Incidental Mutation 'R1523:Cacna1g'
ID |
167656 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cacna1g
|
Ensembl Gene |
ENSMUSG00000020866 |
Gene Name |
calcium channel, voltage-dependent, T type, alpha 1G subunit |
Synonyms |
a1G, Cav3.1d |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.450)
|
Stock # |
R1523 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
94299217-94365024 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 94333555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021234]
[ENSMUST00000021234]
[ENSMUST00000100561]
[ENSMUST00000100561]
[ENSMUST00000103166]
[ENSMUST00000103166]
[ENSMUST00000107785]
[ENSMUST00000107785]
[ENSMUST00000107786]
[ENSMUST00000107786]
[ENSMUST00000107788]
[ENSMUST00000107788]
[ENSMUST00000107789]
[ENSMUST00000107789]
[ENSMUST00000107792]
[ENSMUST00000107792]
[ENSMUST00000107791]
[ENSMUST00000107791]
[ENSMUST00000107793]
[ENSMUST00000107793]
[ENSMUST00000107790]
[ENSMUST00000107790]
|
AlphaFold |
Q5SUF7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000021234
|
SMART Domains |
Protein: ENSMUSP00000021234 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
9.2e-66 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
7.9e-46 |
PFAM |
low complexity region
|
1040 |
1051 |
N/A |
INTRINSIC |
low complexity region
|
1063 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1127 |
N/A |
INTRINSIC |
low complexity region
|
1193 |
1204 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1290 |
1514 |
3e-55 |
PFAM |
coiled coil region
|
1519 |
1559 |
N/A |
INTRINSIC |
low complexity region
|
1562 |
1573 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1630 |
1835 |
3e-49 |
PFAM |
Pfam:PKD_channel
|
1688 |
1842 |
7.8e-11 |
PFAM |
low complexity region
|
2180 |
2211 |
N/A |
INTRINSIC |
low complexity region
|
2230 |
2246 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000021234
|
SMART Domains |
Protein: ENSMUSP00000021234 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
9.2e-66 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
7.9e-46 |
PFAM |
low complexity region
|
1040 |
1051 |
N/A |
INTRINSIC |
low complexity region
|
1063 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1127 |
N/A |
INTRINSIC |
low complexity region
|
1193 |
1204 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1290 |
1514 |
3e-55 |
PFAM |
coiled coil region
|
1519 |
1559 |
N/A |
INTRINSIC |
low complexity region
|
1562 |
1573 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1630 |
1835 |
3e-49 |
PFAM |
Pfam:PKD_channel
|
1688 |
1842 |
7.8e-11 |
PFAM |
low complexity region
|
2180 |
2211 |
N/A |
INTRINSIC |
low complexity region
|
2230 |
2246 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000100561
|
SMART Domains |
Protein: ENSMUSP00000098127 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
1.9e-65 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
1.6e-45 |
PFAM |
low complexity region
|
1063 |
1074 |
N/A |
INTRINSIC |
low complexity region
|
1086 |
1113 |
N/A |
INTRINSIC |
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
low complexity region
|
1216 |
1227 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1313 |
1537 |
6.1e-55 |
PFAM |
coiled coil region
|
1542 |
1582 |
N/A |
INTRINSIC |
low complexity region
|
1585 |
1596 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1653 |
1858 |
6.2e-49 |
PFAM |
Pfam:PKD_channel
|
1711 |
1865 |
1.4e-10 |
PFAM |
low complexity region
|
2203 |
2234 |
N/A |
INTRINSIC |
low complexity region
|
2253 |
2269 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000100561
|
SMART Domains |
Protein: ENSMUSP00000098127 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
1.9e-65 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
1.6e-45 |
PFAM |
low complexity region
|
1063 |
1074 |
N/A |
INTRINSIC |
low complexity region
|
1086 |
1113 |
N/A |
INTRINSIC |
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
low complexity region
|
1216 |
1227 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1313 |
1537 |
6.1e-55 |
PFAM |
coiled coil region
|
1542 |
1582 |
N/A |
INTRINSIC |
low complexity region
|
1585 |
1596 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1653 |
1858 |
6.2e-49 |
PFAM |
Pfam:PKD_channel
|
1711 |
1865 |
1.4e-10 |
PFAM |
low complexity region
|
2203 |
2234 |
N/A |
INTRINSIC |
low complexity region
|
2253 |
2269 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000103166
|
SMART Domains |
Protein: ENSMUSP00000099455 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
1.9e-65 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
1.6e-45 |
PFAM |
low complexity region
|
1063 |
1074 |
N/A |
INTRINSIC |
low complexity region
|
1086 |
1113 |
N/A |
INTRINSIC |
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
low complexity region
|
1216 |
1227 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1313 |
1537 |
6.1e-55 |
PFAM |
SCOP:d1g2qa_
|
1545 |
1589 |
6e-3 |
SMART |
Pfam:Ion_trans
|
1646 |
1851 |
6.2e-49 |
PFAM |
Pfam:PKD_channel
|
1704 |
1858 |
1.4e-10 |
PFAM |
low complexity region
|
2196 |
2227 |
N/A |
INTRINSIC |
low complexity region
|
2246 |
2262 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000103166
|
SMART Domains |
Protein: ENSMUSP00000099455 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
1.9e-65 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
1.6e-45 |
PFAM |
low complexity region
|
1063 |
1074 |
N/A |
INTRINSIC |
low complexity region
|
1086 |
1113 |
N/A |
INTRINSIC |
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
low complexity region
|
1216 |
1227 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1313 |
1537 |
6.1e-55 |
PFAM |
SCOP:d1g2qa_
|
1545 |
1589 |
6e-3 |
SMART |
Pfam:Ion_trans
|
1646 |
1851 |
6.2e-49 |
PFAM |
Pfam:PKD_channel
|
1704 |
1858 |
1.4e-10 |
PFAM |
low complexity region
|
2196 |
2227 |
N/A |
INTRINSIC |
low complexity region
|
2246 |
2262 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107785
|
SMART Domains |
Protein: ENSMUSP00000103414 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
1.8e-65 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
1.5e-45 |
PFAM |
low complexity region
|
1040 |
1051 |
N/A |
INTRINSIC |
low complexity region
|
1063 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1127 |
N/A |
INTRINSIC |
low complexity region
|
1193 |
1204 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1290 |
1514 |
5.7e-55 |
PFAM |
coiled coil region
|
1519 |
1558 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1612 |
1817 |
5.8e-49 |
PFAM |
Pfam:PKD_channel
|
1670 |
1824 |
1.4e-10 |
PFAM |
low complexity region
|
2027 |
2042 |
N/A |
INTRINSIC |
low complexity region
|
2084 |
2115 |
N/A |
INTRINSIC |
low complexity region
|
2134 |
2150 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107785
|
SMART Domains |
Protein: ENSMUSP00000103414 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
1.8e-65 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
1.5e-45 |
PFAM |
low complexity region
|
1040 |
1051 |
N/A |
INTRINSIC |
low complexity region
|
1063 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1127 |
N/A |
INTRINSIC |
low complexity region
|
1193 |
1204 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1290 |
1514 |
5.7e-55 |
PFAM |
coiled coil region
|
1519 |
1558 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1612 |
1817 |
5.8e-49 |
PFAM |
Pfam:PKD_channel
|
1670 |
1824 |
1.4e-10 |
PFAM |
low complexity region
|
2027 |
2042 |
N/A |
INTRINSIC |
low complexity region
|
2084 |
2115 |
N/A |
INTRINSIC |
low complexity region
|
2134 |
2150 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107786
|
SMART Domains |
Protein: ENSMUSP00000103415 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
383 |
4e-60 |
PFAM |
low complexity region
|
466 |
490 |
N/A |
INTRINSIC |
low complexity region
|
518 |
530 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
760 |
946 |
1.6e-45 |
PFAM |
low complexity region
|
1023 |
1034 |
N/A |
INTRINSIC |
low complexity region
|
1046 |
1073 |
N/A |
INTRINSIC |
low complexity region
|
1094 |
1110 |
N/A |
INTRINSIC |
low complexity region
|
1176 |
1187 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1273 |
1497 |
5.9e-55 |
PFAM |
SCOP:d1g2qa_
|
1505 |
1549 |
6e-3 |
SMART |
Pfam:Ion_trans
|
1606 |
1811 |
6e-49 |
PFAM |
Pfam:PKD_channel
|
1664 |
1818 |
1.4e-10 |
PFAM |
low complexity region
|
2156 |
2187 |
N/A |
INTRINSIC |
low complexity region
|
2206 |
2222 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107786
|
SMART Domains |
Protein: ENSMUSP00000103415 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
383 |
4e-60 |
PFAM |
low complexity region
|
466 |
490 |
N/A |
INTRINSIC |
low complexity region
|
518 |
530 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
760 |
946 |
1.6e-45 |
PFAM |
low complexity region
|
1023 |
1034 |
N/A |
INTRINSIC |
low complexity region
|
1046 |
1073 |
N/A |
INTRINSIC |
low complexity region
|
1094 |
1110 |
N/A |
INTRINSIC |
low complexity region
|
1176 |
1187 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1273 |
1497 |
5.9e-55 |
PFAM |
SCOP:d1g2qa_
|
1505 |
1549 |
6e-3 |
SMART |
Pfam:Ion_trans
|
1606 |
1811 |
6e-49 |
PFAM |
Pfam:PKD_channel
|
1664 |
1818 |
1.4e-10 |
PFAM |
low complexity region
|
2156 |
2187 |
N/A |
INTRINSIC |
low complexity region
|
2206 |
2222 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107788
|
SMART Domains |
Protein: ENSMUSP00000103417 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
1.9e-65 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
1.6e-45 |
PFAM |
low complexity region
|
1063 |
1074 |
N/A |
INTRINSIC |
low complexity region
|
1086 |
1113 |
N/A |
INTRINSIC |
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
low complexity region
|
1216 |
1227 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1313 |
1537 |
6e-55 |
PFAM |
coiled coil region
|
1542 |
1574 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1628 |
1833 |
6.1e-49 |
PFAM |
Pfam:PKD_channel
|
1686 |
1840 |
1.4e-10 |
PFAM |
low complexity region
|
2178 |
2209 |
N/A |
INTRINSIC |
low complexity region
|
2228 |
2244 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107788
|
SMART Domains |
Protein: ENSMUSP00000103417 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
1.9e-65 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
1.6e-45 |
PFAM |
low complexity region
|
1063 |
1074 |
N/A |
INTRINSIC |
low complexity region
|
1086 |
1113 |
N/A |
INTRINSIC |
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
low complexity region
|
1216 |
1227 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1313 |
1537 |
6e-55 |
PFAM |
coiled coil region
|
1542 |
1574 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1628 |
1833 |
6.1e-49 |
PFAM |
Pfam:PKD_channel
|
1686 |
1840 |
1.4e-10 |
PFAM |
low complexity region
|
2178 |
2209 |
N/A |
INTRINSIC |
low complexity region
|
2228 |
2244 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107789
|
SMART Domains |
Protein: ENSMUSP00000103418 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
80 |
406 |
1.6e-76 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
742 |
972 |
3.4e-56 |
PFAM |
low complexity region
|
1063 |
1074 |
N/A |
INTRINSIC |
low complexity region
|
1086 |
1113 |
N/A |
INTRINSIC |
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
low complexity region
|
1216 |
1227 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1276 |
1549 |
1.5e-61 |
PFAM |
low complexity region
|
1578 |
1589 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1611 |
1863 |
2.1e-56 |
PFAM |
Pfam:PKD_channel
|
1703 |
1858 |
3.4e-9 |
PFAM |
low complexity region
|
2289 |
2320 |
N/A |
INTRINSIC |
low complexity region
|
2339 |
2355 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107789
|
SMART Domains |
Protein: ENSMUSP00000103418 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
80 |
406 |
1.6e-76 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
742 |
972 |
3.4e-56 |
PFAM |
low complexity region
|
1063 |
1074 |
N/A |
INTRINSIC |
low complexity region
|
1086 |
1113 |
N/A |
INTRINSIC |
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
low complexity region
|
1216 |
1227 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1276 |
1549 |
1.5e-61 |
PFAM |
low complexity region
|
1578 |
1589 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1611 |
1863 |
2.1e-56 |
PFAM |
Pfam:PKD_channel
|
1703 |
1858 |
3.4e-9 |
PFAM |
low complexity region
|
2289 |
2320 |
N/A |
INTRINSIC |
low complexity region
|
2339 |
2355 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107792
|
SMART Domains |
Protein: ENSMUSP00000103421 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
1.8e-65 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
1.6e-45 |
PFAM |
low complexity region
|
1040 |
1051 |
N/A |
INTRINSIC |
low complexity region
|
1063 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1127 |
N/A |
INTRINSIC |
low complexity region
|
1193 |
1204 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1290 |
1514 |
5.9e-55 |
PFAM |
coiled coil region
|
1519 |
1551 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1605 |
1810 |
6e-49 |
PFAM |
Pfam:PKD_channel
|
1663 |
1817 |
1.4e-10 |
PFAM |
low complexity region
|
2155 |
2186 |
N/A |
INTRINSIC |
low complexity region
|
2205 |
2221 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107792
|
SMART Domains |
Protein: ENSMUSP00000103421 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
1.8e-65 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
1.6e-45 |
PFAM |
low complexity region
|
1040 |
1051 |
N/A |
INTRINSIC |
low complexity region
|
1063 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1127 |
N/A |
INTRINSIC |
low complexity region
|
1193 |
1204 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1290 |
1514 |
5.9e-55 |
PFAM |
coiled coil region
|
1519 |
1551 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1605 |
1810 |
6e-49 |
PFAM |
Pfam:PKD_channel
|
1663 |
1817 |
1.4e-10 |
PFAM |
low complexity region
|
2155 |
2186 |
N/A |
INTRINSIC |
low complexity region
|
2205 |
2221 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107791
|
SMART Domains |
Protein: ENSMUSP00000103420 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
1.8e-65 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
1.6e-45 |
PFAM |
low complexity region
|
1040 |
1051 |
N/A |
INTRINSIC |
low complexity region
|
1063 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1127 |
N/A |
INTRINSIC |
low complexity region
|
1193 |
1204 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1290 |
1514 |
6e-55 |
PFAM |
coiled coil region
|
1519 |
1558 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1612 |
1817 |
6e-49 |
PFAM |
Pfam:PKD_channel
|
1670 |
1824 |
1.4e-10 |
PFAM |
low complexity region
|
2162 |
2193 |
N/A |
INTRINSIC |
low complexity region
|
2212 |
2228 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107791
|
SMART Domains |
Protein: ENSMUSP00000103420 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
1.8e-65 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
1.6e-45 |
PFAM |
low complexity region
|
1040 |
1051 |
N/A |
INTRINSIC |
low complexity region
|
1063 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1127 |
N/A |
INTRINSIC |
low complexity region
|
1193 |
1204 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1290 |
1514 |
6e-55 |
PFAM |
coiled coil region
|
1519 |
1558 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1612 |
1817 |
6e-49 |
PFAM |
Pfam:PKD_channel
|
1670 |
1824 |
1.4e-10 |
PFAM |
low complexity region
|
2162 |
2193 |
N/A |
INTRINSIC |
low complexity region
|
2212 |
2228 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107793
|
SMART Domains |
Protein: ENSMUSP00000103422 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
1.9e-65 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
1.6e-45 |
PFAM |
low complexity region
|
1063 |
1074 |
N/A |
INTRINSIC |
low complexity region
|
1086 |
1113 |
N/A |
INTRINSIC |
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
low complexity region
|
1216 |
1227 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1313 |
1537 |
6e-55 |
PFAM |
coiled coil region
|
1542 |
1581 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1635 |
1840 |
6.1e-49 |
PFAM |
Pfam:PKD_channel
|
1693 |
1847 |
1.4e-10 |
PFAM |
low complexity region
|
2185 |
2216 |
N/A |
INTRINSIC |
low complexity region
|
2235 |
2251 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107793
|
SMART Domains |
Protein: ENSMUSP00000103422 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
1.9e-65 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
1.6e-45 |
PFAM |
low complexity region
|
1063 |
1074 |
N/A |
INTRINSIC |
low complexity region
|
1086 |
1113 |
N/A |
INTRINSIC |
low complexity region
|
1134 |
1150 |
N/A |
INTRINSIC |
low complexity region
|
1216 |
1227 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1313 |
1537 |
6e-55 |
PFAM |
coiled coil region
|
1542 |
1581 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1635 |
1840 |
6.1e-49 |
PFAM |
Pfam:PKD_channel
|
1693 |
1847 |
1.4e-10 |
PFAM |
low complexity region
|
2185 |
2216 |
N/A |
INTRINSIC |
low complexity region
|
2235 |
2251 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152811
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107790
|
SMART Domains |
Protein: ENSMUSP00000103419 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
1.9e-65 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
1.6e-45 |
PFAM |
low complexity region
|
1040 |
1051 |
N/A |
INTRINSIC |
low complexity region
|
1063 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1127 |
N/A |
INTRINSIC |
low complexity region
|
1193 |
1204 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1290 |
1514 |
6e-55 |
PFAM |
SCOP:d1g2qa_
|
1522 |
1566 |
6e-3 |
SMART |
Pfam:Ion_trans
|
1623 |
1828 |
6.1e-49 |
PFAM |
Pfam:PKD_channel
|
1681 |
1835 |
1.4e-10 |
PFAM |
low complexity region
|
2173 |
2204 |
N/A |
INTRINSIC |
low complexity region
|
2223 |
2239 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107790
|
SMART Domains |
Protein: ENSMUSP00000103419 Gene: ENSMUSG00000020866
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
119 |
394 |
1.9e-65 |
PFAM |
low complexity region
|
483 |
507 |
N/A |
INTRINSIC |
low complexity region
|
535 |
547 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
777 |
963 |
1.6e-45 |
PFAM |
low complexity region
|
1040 |
1051 |
N/A |
INTRINSIC |
low complexity region
|
1063 |
1090 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1127 |
N/A |
INTRINSIC |
low complexity region
|
1193 |
1204 |
N/A |
INTRINSIC |
Pfam:Ion_trans
|
1290 |
1514 |
6e-55 |
PFAM |
SCOP:d1g2qa_
|
1522 |
1566 |
6e-3 |
SMART |
Pfam:Ion_trans
|
1623 |
1828 |
6.1e-49 |
PFAM |
Pfam:PKD_channel
|
1681 |
1835 |
1.4e-10 |
PFAM |
low complexity region
|
2173 |
2204 |
N/A |
INTRINSIC |
low complexity region
|
2223 |
2239 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-sensitive calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division, and cell death. This gene encodes a T-type, low-voltage activated calcium channel. The T-type channels generate currents that are both transient, owing to fast inactivation, and tiny, owing to small conductance. T-type channels are thought to be involved in pacemaker activity, low-threshold calcium spikes, neuronal oscillations and resonance, and rebound burst firing. Many alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2011] PHENOTYPE: Homozygote null mice display disrupted sleeping patterns, altered amounts of activity, abnormal action potentials in the brain, prolonged electrical conductance in the heart, and resistance to diet-induced obesity. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L24Rik |
G |
T |
11: 83,331,232 (GRCm39) |
E48* |
probably null |
Het |
4930503B20Rik |
A |
G |
3: 146,356,864 (GRCm39) |
S15P |
probably damaging |
Het |
5530400C23Rik |
A |
G |
6: 133,271,256 (GRCm39) |
E100G |
possibly damaging |
Het |
Abcg2 |
T |
C |
6: 58,662,679 (GRCm39) |
F507S |
possibly damaging |
Het |
Adgrf5 |
A |
T |
17: 43,761,044 (GRCm39) |
Q913L |
probably benign |
Het |
Ak7 |
A |
T |
12: 105,732,867 (GRCm39) |
N537I |
probably benign |
Het |
Anks1 |
T |
A |
17: 28,270,629 (GRCm39) |
|
probably null |
Het |
Arhgap32 |
T |
A |
9: 32,168,048 (GRCm39) |
V677D |
probably damaging |
Het |
Ark2c |
G |
A |
18: 77,550,634 (GRCm39) |
T98I |
probably benign |
Het |
Arnt |
C |
T |
3: 95,396,965 (GRCm39) |
P466L |
possibly damaging |
Het |
Arrb1 |
T |
G |
7: 99,243,872 (GRCm39) |
L274R |
probably damaging |
Het |
Atf2 |
A |
T |
2: 73,693,552 (GRCm39) |
D3E |
probably damaging |
Het |
Baz2b |
C |
T |
2: 59,798,981 (GRCm39) |
R381Q |
possibly damaging |
Het |
Ccr10 |
C |
T |
11: 101,064,501 (GRCm39) |
R343Q |
probably damaging |
Het |
Clca3a2 |
G |
T |
3: 144,777,405 (GRCm39) |
S822* |
probably null |
Het |
Col12a1 |
A |
T |
9: 79,568,278 (GRCm39) |
Y1649N |
probably benign |
Het |
Col23a1 |
G |
A |
11: 51,452,743 (GRCm39) |
|
probably null |
Het |
Cp |
T |
C |
3: 20,043,229 (GRCm39) |
Y1006H |
probably benign |
Het |
Ctbs |
A |
G |
3: 146,160,735 (GRCm39) |
T101A |
probably benign |
Het |
Cyp4a31 |
T |
C |
4: 115,426,951 (GRCm39) |
F170L |
probably benign |
Het |
Dock1 |
A |
C |
7: 134,345,976 (GRCm39) |
I173L |
possibly damaging |
Het |
Dock4 |
A |
G |
12: 40,743,024 (GRCm39) |
D393G |
possibly damaging |
Het |
Dsg1a |
T |
A |
18: 20,455,374 (GRCm39) |
S113T |
probably damaging |
Het |
Epha3 |
T |
C |
16: 63,431,311 (GRCm39) |
D530G |
probably damaging |
Het |
Erbb4 |
T |
A |
1: 68,435,411 (GRCm39) |
H162L |
possibly damaging |
Het |
Fam131c |
C |
T |
4: 141,110,142 (GRCm39) |
T180I |
probably benign |
Het |
Fndc1 |
A |
G |
17: 7,992,041 (GRCm39) |
S552P |
unknown |
Het |
Foxf1 |
A |
G |
8: 121,811,297 (GRCm39) |
|
probably null |
Het |
Frem2 |
T |
C |
3: 53,562,828 (GRCm39) |
T560A |
possibly damaging |
Het |
Gabra4 |
G |
A |
5: 71,790,975 (GRCm39) |
T289M |
probably damaging |
Het |
Gcnt1 |
A |
G |
19: 17,307,197 (GRCm39) |
V176A |
probably damaging |
Het |
Gemin8 |
G |
A |
X: 164,963,644 (GRCm39) |
S100N |
probably benign |
Het |
Gm1527 |
T |
C |
3: 28,974,567 (GRCm39) |
I460T |
probably damaging |
Het |
Gm6729 |
A |
G |
10: 86,376,039 (GRCm39) |
|
noncoding transcript |
Het |
Gprin2 |
T |
C |
14: 33,917,036 (GRCm39) |
S245G |
probably benign |
Het |
Gsdmc |
A |
T |
15: 63,675,479 (GRCm39) |
I112N |
probably damaging |
Het |
Hspb6 |
A |
G |
7: 30,252,848 (GRCm39) |
D30G |
probably benign |
Het |
Hydin |
A |
G |
8: 111,259,903 (GRCm39) |
D2625G |
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Irf2 |
T |
A |
8: 47,290,875 (GRCm39) |
|
probably null |
Het |
Kdm3b |
T |
C |
18: 34,926,226 (GRCm39) |
|
probably null |
Het |
Khdc3 |
G |
A |
9: 73,010,773 (GRCm39) |
E208K |
possibly damaging |
Het |
Kifc1 |
A |
T |
17: 34,102,636 (GRCm39) |
S263T |
probably benign |
Het |
Lrig3 |
C |
A |
10: 125,844,567 (GRCm39) |
T677K |
probably damaging |
Het |
Magec2 |
T |
A |
X: 61,334,512 (GRCm39) |
D177E |
probably benign |
Het |
Mapkapk3 |
A |
T |
9: 107,140,822 (GRCm39) |
|
probably null |
Het |
Mertk |
T |
C |
2: 128,632,248 (GRCm39) |
|
probably null |
Het |
Metrn |
A |
G |
17: 26,013,951 (GRCm39) |
*292R |
probably null |
Het |
Mllt6 |
G |
T |
11: 97,555,849 (GRCm39) |
A60S |
probably damaging |
Het |
Mmp21 |
T |
C |
7: 133,280,774 (GRCm39) |
I65M |
probably benign |
Het |
Myo7b |
A |
G |
18: 32,099,929 (GRCm39) |
L1651P |
probably damaging |
Het |
Nhsl1 |
A |
G |
10: 18,284,103 (GRCm39) |
S15G |
probably benign |
Het |
Nos1ap |
T |
C |
1: 170,165,687 (GRCm39) |
D192G |
probably benign |
Het |
Nrcam |
A |
G |
12: 44,619,032 (GRCm39) |
T844A |
probably damaging |
Het |
Pax4 |
A |
G |
6: 28,444,840 (GRCm39) |
L203P |
probably damaging |
Het |
Pbld2 |
T |
C |
10: 62,912,212 (GRCm39) |
I280T |
probably benign |
Het |
Pclo |
A |
G |
5: 14,838,420 (GRCm39) |
Y4681C |
unknown |
Het |
Phyhip |
T |
A |
14: 70,699,200 (GRCm39) |
M1K |
probably null |
Het |
Plppr4 |
T |
C |
3: 117,116,490 (GRCm39) |
N456D |
probably damaging |
Het |
Prpf31 |
T |
C |
7: 3,643,856 (GRCm39) |
Y473H |
probably damaging |
Het |
Rapgef2 |
A |
T |
3: 79,000,056 (GRCm39) |
V564D |
probably damaging |
Het |
Rexo1 |
T |
C |
10: 80,378,585 (GRCm39) |
S1123G |
probably benign |
Het |
Rnasel |
C |
A |
1: 153,631,759 (GRCm39) |
Q513K |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,332,714 (GRCm39) |
V2641A |
probably damaging |
Het |
Rnf40 |
G |
T |
7: 127,189,787 (GRCm39) |
R184L |
probably damaging |
Het |
Rnf8 |
A |
G |
17: 29,845,946 (GRCm39) |
K179R |
probably damaging |
Het |
Sipa1l2 |
C |
T |
8: 126,174,352 (GRCm39) |
D1309N |
possibly damaging |
Het |
Slc25a38 |
T |
A |
9: 119,952,769 (GRCm39) |
M307K |
possibly damaging |
Het |
Snx33 |
T |
C |
9: 56,833,466 (GRCm39) |
D201G |
possibly damaging |
Het |
Sulf1 |
T |
A |
1: 12,887,574 (GRCm39) |
Y249* |
probably null |
Het |
Sult2a4 |
G |
A |
7: 13,643,785 (GRCm39) |
Q261* |
probably null |
Het |
Syndig1 |
G |
A |
2: 149,845,154 (GRCm39) |
A226T |
probably damaging |
Het |
Tcaf2 |
C |
T |
6: 42,601,385 (GRCm39) |
W891* |
probably null |
Het |
Tcf15 |
C |
A |
2: 151,985,808 (GRCm39) |
T88K |
probably damaging |
Het |
Tmem19 |
A |
T |
10: 115,183,122 (GRCm39) |
M117K |
probably damaging |
Het |
Trim32 |
T |
C |
4: 65,532,241 (GRCm39) |
L266P |
probably benign |
Het |
Vmn2r11 |
T |
C |
5: 109,201,707 (GRCm39) |
I266V |
probably benign |
Het |
Vmn2r73 |
A |
T |
7: 85,519,486 (GRCm39) |
Y491N |
probably benign |
Het |
Wrn |
C |
T |
8: 33,782,744 (GRCm39) |
E486K |
probably benign |
Het |
Zfp457 |
T |
C |
13: 67,441,501 (GRCm39) |
E262G |
probably damaging |
Het |
Zfp598 |
A |
G |
17: 24,897,603 (GRCm39) |
D308G |
probably null |
Het |
Zup1 |
T |
C |
10: 33,803,436 (GRCm39) |
I549M |
probably damaging |
Het |
|
Other mutations in Cacna1g |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01300:Cacna1g
|
APN |
11 |
94,324,738 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01382:Cacna1g
|
APN |
11 |
94,356,684 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01694:Cacna1g
|
APN |
11 |
94,319,938 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01866:Cacna1g
|
APN |
11 |
94,347,937 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02341:Cacna1g
|
APN |
11 |
94,352,978 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02506:Cacna1g
|
APN |
11 |
94,319,955 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02706:Cacna1g
|
APN |
11 |
94,347,818 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02879:Cacna1g
|
APN |
11 |
94,300,431 (GRCm39) |
missense |
probably benign |
0.12 |
IGL03366:Cacna1g
|
APN |
11 |
94,347,977 (GRCm39) |
missense |
probably damaging |
1.00 |
ANU23:Cacna1g
|
UTSW |
11 |
94,357,054 (GRCm39) |
critical splice acceptor site |
probably benign |
|
IGL03134:Cacna1g
|
UTSW |
11 |
94,350,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Cacna1g
|
UTSW |
11 |
94,348,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R0123:Cacna1g
|
UTSW |
11 |
94,300,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R0178:Cacna1g
|
UTSW |
11 |
94,354,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R0375:Cacna1g
|
UTSW |
11 |
94,301,880 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0389:Cacna1g
|
UTSW |
11 |
94,350,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R0433:Cacna1g
|
UTSW |
11 |
94,350,033 (GRCm39) |
missense |
probably benign |
0.16 |
R0458:Cacna1g
|
UTSW |
11 |
94,300,266 (GRCm39) |
missense |
probably damaging |
0.96 |
R0498:Cacna1g
|
UTSW |
11 |
94,350,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R0629:Cacna1g
|
UTSW |
11 |
94,300,369 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0800:Cacna1g
|
UTSW |
11 |
94,317,265 (GRCm39) |
missense |
probably damaging |
1.00 |
R1341:Cacna1g
|
UTSW |
11 |
94,324,582 (GRCm39) |
missense |
probably damaging |
0.99 |
R1457:Cacna1g
|
UTSW |
11 |
94,350,381 (GRCm39) |
missense |
possibly damaging |
0.76 |
R1532:Cacna1g
|
UTSW |
11 |
94,334,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R1540:Cacna1g
|
UTSW |
11 |
94,347,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R1652:Cacna1g
|
UTSW |
11 |
94,318,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R1688:Cacna1g
|
UTSW |
11 |
94,316,779 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1750:Cacna1g
|
UTSW |
11 |
94,334,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R1751:Cacna1g
|
UTSW |
11 |
94,350,628 (GRCm39) |
missense |
probably benign |
0.35 |
R1767:Cacna1g
|
UTSW |
11 |
94,350,628 (GRCm39) |
missense |
probably benign |
0.35 |
R1847:Cacna1g
|
UTSW |
11 |
94,357,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R1924:Cacna1g
|
UTSW |
11 |
94,334,880 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1973:Cacna1g
|
UTSW |
11 |
94,350,603 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2050:Cacna1g
|
UTSW |
11 |
94,300,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R2261:Cacna1g
|
UTSW |
11 |
94,347,961 (GRCm39) |
missense |
probably benign |
0.42 |
R2273:Cacna1g
|
UTSW |
11 |
94,306,762 (GRCm39) |
missense |
probably damaging |
0.98 |
R2274:Cacna1g
|
UTSW |
11 |
94,306,762 (GRCm39) |
missense |
probably damaging |
0.98 |
R2275:Cacna1g
|
UTSW |
11 |
94,306,762 (GRCm39) |
missense |
probably damaging |
0.98 |
R2376:Cacna1g
|
UTSW |
11 |
94,356,734 (GRCm39) |
missense |
probably damaging |
0.99 |
R3686:Cacna1g
|
UTSW |
11 |
94,349,916 (GRCm39) |
splice site |
probably null |
|
R3809:Cacna1g
|
UTSW |
11 |
94,306,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R3875:Cacna1g
|
UTSW |
11 |
94,328,749 (GRCm39) |
missense |
probably damaging |
0.98 |
R4133:Cacna1g
|
UTSW |
11 |
94,323,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R4642:Cacna1g
|
UTSW |
11 |
94,308,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R4732:Cacna1g
|
UTSW |
11 |
94,334,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R4733:Cacna1g
|
UTSW |
11 |
94,334,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R4773:Cacna1g
|
UTSW |
11 |
94,302,298 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4798:Cacna1g
|
UTSW |
11 |
94,324,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R4839:Cacna1g
|
UTSW |
11 |
94,350,433 (GRCm39) |
missense |
probably benign |
0.16 |
R4900:Cacna1g
|
UTSW |
11 |
94,350,177 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4927:Cacna1g
|
UTSW |
11 |
94,319,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R4930:Cacna1g
|
UTSW |
11 |
94,334,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R5050:Cacna1g
|
UTSW |
11 |
94,350,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R5117:Cacna1g
|
UTSW |
11 |
94,323,329 (GRCm39) |
missense |
probably damaging |
1.00 |
R5186:Cacna1g
|
UTSW |
11 |
94,333,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R5364:Cacna1g
|
UTSW |
11 |
94,307,684 (GRCm39) |
missense |
probably benign |
0.29 |
R5512:Cacna1g
|
UTSW |
11 |
94,334,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R5564:Cacna1g
|
UTSW |
11 |
94,321,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R5603:Cacna1g
|
UTSW |
11 |
94,330,578 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5682:Cacna1g
|
UTSW |
11 |
94,349,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R5818:Cacna1g
|
UTSW |
11 |
94,308,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R5828:Cacna1g
|
UTSW |
11 |
94,347,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R5882:Cacna1g
|
UTSW |
11 |
94,350,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R5884:Cacna1g
|
UTSW |
11 |
94,328,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R6075:Cacna1g
|
UTSW |
11 |
94,307,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R6112:Cacna1g
|
UTSW |
11 |
94,300,072 (GRCm39) |
missense |
probably damaging |
0.98 |
R6122:Cacna1g
|
UTSW |
11 |
94,320,997 (GRCm39) |
missense |
probably benign |
0.11 |
R6145:Cacna1g
|
UTSW |
11 |
94,353,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R6362:Cacna1g
|
UTSW |
11 |
94,330,533 (GRCm39) |
critical splice donor site |
probably null |
|
R6415:Cacna1g
|
UTSW |
11 |
94,354,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R6468:Cacna1g
|
UTSW |
11 |
94,330,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R6648:Cacna1g
|
UTSW |
11 |
94,323,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R6746:Cacna1g
|
UTSW |
11 |
94,300,253 (GRCm39) |
nonsense |
probably null |
|
R6764:Cacna1g
|
UTSW |
11 |
94,304,014 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6782:Cacna1g
|
UTSW |
11 |
94,350,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R6888:Cacna1g
|
UTSW |
11 |
94,350,033 (GRCm39) |
missense |
probably benign |
0.16 |
R7148:Cacna1g
|
UTSW |
11 |
94,356,756 (GRCm39) |
missense |
probably benign |
0.32 |
R7181:Cacna1g
|
UTSW |
11 |
94,306,691 (GRCm39) |
missense |
probably benign |
0.21 |
R7183:Cacna1g
|
UTSW |
11 |
94,330,563 (GRCm39) |
missense |
probably benign |
0.04 |
R7193:Cacna1g
|
UTSW |
11 |
94,300,057 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7237:Cacna1g
|
UTSW |
11 |
94,328,705 (GRCm39) |
missense |
probably benign |
0.21 |
R7254:Cacna1g
|
UTSW |
11 |
94,323,393 (GRCm39) |
nonsense |
probably null |
|
R7312:Cacna1g
|
UTSW |
11 |
94,323,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R7451:Cacna1g
|
UTSW |
11 |
94,319,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R7470:Cacna1g
|
UTSW |
11 |
94,352,765 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7534:Cacna1g
|
UTSW |
11 |
94,301,904 (GRCm39) |
missense |
probably benign |
0.00 |
R7585:Cacna1g
|
UTSW |
11 |
94,364,368 (GRCm39) |
missense |
probably benign |
0.39 |
R7706:Cacna1g
|
UTSW |
11 |
94,305,867 (GRCm39) |
missense |
probably benign |
0.06 |
R7812:Cacna1g
|
UTSW |
11 |
94,334,880 (GRCm39) |
missense |
probably benign |
0.03 |
R7918:Cacna1g
|
UTSW |
11 |
94,334,856 (GRCm39) |
missense |
probably benign |
0.03 |
R7947:Cacna1g
|
UTSW |
11 |
94,348,001 (GRCm39) |
missense |
probably benign |
0.01 |
R8013:Cacna1g
|
UTSW |
11 |
94,347,796 (GRCm39) |
missense |
probably damaging |
0.99 |
R8016:Cacna1g
|
UTSW |
11 |
94,334,007 (GRCm39) |
missense |
probably benign |
0.36 |
R8029:Cacna1g
|
UTSW |
11 |
94,300,564 (GRCm39) |
missense |
probably benign |
0.01 |
R8098:Cacna1g
|
UTSW |
11 |
94,307,338 (GRCm39) |
missense |
probably benign |
0.20 |
R8264:Cacna1g
|
UTSW |
11 |
94,364,392 (GRCm39) |
missense |
probably benign |
0.21 |
R8478:Cacna1g
|
UTSW |
11 |
94,317,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R8679:Cacna1g
|
UTSW |
11 |
94,319,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R8697:Cacna1g
|
UTSW |
11 |
94,307,524 (GRCm39) |
missense |
probably benign |
0.09 |
R8772:Cacna1g
|
UTSW |
11 |
94,356,713 (GRCm39) |
missense |
probably benign |
0.03 |
R9011:Cacna1g
|
UTSW |
11 |
94,306,663 (GRCm39) |
missense |
probably benign |
0.21 |
R9085:Cacna1g
|
UTSW |
11 |
94,334,046 (GRCm39) |
missense |
probably benign |
0.01 |
R9155:Cacna1g
|
UTSW |
11 |
94,350,423 (GRCm39) |
missense |
|
|
R9243:Cacna1g
|
UTSW |
11 |
94,347,893 (GRCm39) |
missense |
possibly damaging |
0.84 |
R9288:Cacna1g
|
UTSW |
11 |
94,308,897 (GRCm39) |
nonsense |
probably null |
|
R9408:Cacna1g
|
UTSW |
11 |
94,321,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R9496:Cacna1g
|
UTSW |
11 |
94,356,711 (GRCm39) |
missense |
probably benign |
0.03 |
R9607:Cacna1g
|
UTSW |
11 |
94,356,714 (GRCm39) |
missense |
probably benign |
0.03 |
R9720:Cacna1g
|
UTSW |
11 |
94,302,297 (GRCm39) |
missense |
probably benign |
0.01 |
X0001:Cacna1g
|
UTSW |
11 |
94,300,471 (GRCm39) |
missense |
possibly damaging |
0.90 |
X0019:Cacna1g
|
UTSW |
11 |
94,350,079 (GRCm39) |
missense |
probably damaging |
0.97 |
X0065:Cacna1g
|
UTSW |
11 |
94,353,251 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cacna1g
|
UTSW |
11 |
94,328,937 (GRCm39) |
missense |
probably benign |
0.31 |
Z1177:Cacna1g
|
UTSW |
11 |
94,364,416 (GRCm39) |
missense |
probably benign |
0.21 |
Z1177:Cacna1g
|
UTSW |
11 |
94,350,422 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTATGAGACGGAGCACCTCCCAC -3'
(R):5'- GTTGCCAGACCGGAAGAATTTTGAC -3'
Sequencing Primer
(F):5'- GAGCACCTCCCACCTGAG -3'
(R):5'- ACCGGAAGAATTTTGACTCCCTG -3'
|
Posted On |
2014-04-13 |