Incidental Mutation 'R1750:Cacna1g'
ID |
193435 |
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 |
MMRRC Submission |
039782-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.450)
|
Stock # |
R1750 (G1)
|
Quality Score |
187 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
94299217-94365024 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 94334118 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 841
(V841E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103422
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021234]
[ENSMUST00000100561]
[ENSMUST00000103166]
[ENSMUST00000107785]
[ENSMUST00000107786]
[ENSMUST00000107788]
[ENSMUST00000107789]
[ENSMUST00000107792]
[ENSMUST00000107790]
[ENSMUST00000107793]
[ENSMUST00000107791]
|
AlphaFold |
Q5SUF7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021234
AA Change: V841E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000021234 Gene: ENSMUSG00000020866 AA Change: V841E
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 benign
Transcript: ENSMUST00000100561
AA Change: V841E
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000098127 Gene: ENSMUSG00000020866 AA Change: V841E
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 benign
Transcript: ENSMUST00000103166
AA Change: V841E
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000099455 Gene: ENSMUSG00000020866 AA Change: V841E
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 benign
Transcript: ENSMUST00000107785
AA Change: V841E
PolyPhen 2
Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000103414 Gene: ENSMUSG00000020866 AA Change: V841E
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 damaging
Transcript: ENSMUST00000107786
AA Change: V824E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103415 Gene: ENSMUSG00000020866 AA Change: V824E
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 |
possibly damaging
Transcript: ENSMUST00000107788
AA Change: V841E
PolyPhen 2
Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103417 Gene: ENSMUSG00000020866 AA Change: V841E
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 benign
Transcript: ENSMUST00000107789
AA Change: V841E
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000103418 Gene: ENSMUSG00000020866 AA Change: V841E
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 damaging
Transcript: ENSMUST00000107792
AA Change: V841E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103421 Gene: ENSMUSG00000020866 AA Change: V841E
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 damaging
Transcript: ENSMUST00000107790
AA Change: V841E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103419 Gene: ENSMUSG00000020866 AA Change: V841E
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 damaging
Transcript: ENSMUST00000107793
AA Change: V841E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103422 Gene: ENSMUSG00000020866 AA Change: V841E
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 damaging
Transcript: ENSMUST00000107791
AA Change: V841E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103420 Gene: ENSMUSG00000020866 AA Change: V841E
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 |
noncoding transcript
Transcript: ENSMUST00000152811
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 91.9%
|
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: 113 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402N03Rik |
G |
T |
7: 130,747,859 (GRCm39) |
N44K |
probably benign |
Het |
Acd |
C |
A |
8: 106,425,524 (GRCm39) |
A270S |
possibly damaging |
Het |
Acnat1 |
G |
A |
4: 49,451,042 (GRCm39) |
T23I |
probably benign |
Het |
Adam26a |
T |
G |
8: 44,023,226 (GRCm39) |
E88A |
possibly damaging |
Het |
Adgrb1 |
G |
A |
15: 74,413,676 (GRCm39) |
V589M |
probably benign |
Het |
Agbl2 |
T |
A |
2: 90,646,720 (GRCm39) |
|
probably benign |
Het |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Amh |
AGCGCCTTGG |
AG |
10: 80,641,419 (GRCm39) |
|
probably null |
Het |
Asap2 |
T |
C |
12: 21,253,999 (GRCm39) |
L170P |
probably damaging |
Het |
Btg2 |
T |
C |
1: 134,006,769 (GRCm39) |
D8G |
probably benign |
Het |
Cacna2d1 |
C |
T |
5: 16,469,286 (GRCm39) |
P230L |
probably benign |
Het |
Cacna2d2 |
A |
T |
9: 107,401,843 (GRCm39) |
D766V |
probably damaging |
Het |
Carns1 |
A |
G |
19: 4,223,156 (GRCm39) |
W23R |
possibly damaging |
Het |
Cdk11b |
T |
A |
4: 155,713,137 (GRCm39) |
|
probably null |
Het |
Chrna3 |
T |
C |
9: 54,923,341 (GRCm39) |
S156G |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,232,171 (GRCm39) |
N972K |
probably benign |
Het |
Cpne7 |
C |
A |
8: 123,861,263 (GRCm39) |
P541T |
probably damaging |
Het |
Cracd |
A |
G |
5: 77,005,522 (GRCm39) |
I628V |
unknown |
Het |
Csmd1 |
A |
T |
8: 15,967,303 (GRCm39) |
L3187I |
probably damaging |
Het |
Dbt |
A |
G |
3: 116,339,943 (GRCm39) |
I404V |
probably benign |
Het |
Dgki |
A |
T |
6: 36,893,369 (GRCm39) |
I819K |
probably damaging |
Het |
Dip2b |
T |
A |
15: 100,076,347 (GRCm39) |
S782T |
probably benign |
Het |
Dlc1 |
A |
T |
8: 37,325,244 (GRCm39) |
|
probably null |
Het |
Dnajc13 |
A |
T |
9: 104,098,676 (GRCm39) |
V459E |
probably damaging |
Het |
Enam |
A |
G |
5: 88,651,086 (GRCm39) |
E790G |
probably damaging |
Het |
Epb41l4a |
G |
C |
18: 33,961,261 (GRCm39) |
Y424* |
probably null |
Het |
Extl1 |
A |
G |
4: 134,089,999 (GRCm39) |
S370P |
probably benign |
Het |
Fan1 |
T |
C |
7: 64,022,761 (GRCm39) |
Y164C |
probably benign |
Het |
Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
Fbxw25 |
A |
T |
9: 109,479,141 (GRCm39) |
I370N |
probably benign |
Het |
Fcgbp |
T |
A |
7: 27,792,868 (GRCm39) |
Y957* |
probably null |
Het |
Gkap1 |
C |
A |
13: 58,384,857 (GRCm39) |
E77* |
probably null |
Het |
Gkn1 |
A |
T |
6: 87,326,105 (GRCm39) |
N28K |
unknown |
Het |
Gls2 |
A |
G |
10: 128,037,194 (GRCm39) |
E245G |
probably damaging |
Het |
Glyat |
G |
A |
19: 12,623,679 (GRCm39) |
V32I |
probably benign |
Het |
Gm2431 |
A |
T |
7: 141,811,762 (GRCm39) |
C47* |
probably null |
Het |
Gm5431 |
T |
C |
11: 48,785,658 (GRCm39) |
D239G |
probably benign |
Het |
Ift70a1 |
C |
T |
2: 75,810,599 (GRCm39) |
V495I |
probably benign |
Het |
Inpp5d |
T |
C |
1: 87,626,803 (GRCm39) |
F540L |
probably damaging |
Het |
Kcna1 |
A |
C |
6: 126,619,771 (GRCm39) |
I183S |
probably benign |
Het |
Kpna2 |
G |
T |
11: 106,882,271 (GRCm39) |
L212I |
probably damaging |
Het |
Krt36 |
C |
G |
11: 99,994,884 (GRCm39) |
R229S |
probably benign |
Het |
Krt78 |
G |
A |
15: 101,854,812 (GRCm39) |
H1000Y |
probably benign |
Het |
Krt90 |
A |
G |
15: 101,461,800 (GRCm39) |
|
probably benign |
Het |
Ldlrad4 |
C |
A |
18: 68,239,758 (GRCm39) |
F59L |
probably benign |
Het |
Lrrc3b |
T |
C |
14: 15,358,601 (GRCm38) |
N2D |
probably benign |
Het |
Madd |
T |
C |
2: 90,998,236 (GRCm39) |
D239G |
probably damaging |
Het |
Mapk8ip3 |
C |
T |
17: 25,133,433 (GRCm39) |
G332S |
probably null |
Het |
Mastl |
A |
T |
2: 23,036,093 (GRCm39) |
L141* |
probably null |
Het |
Mdh1b |
T |
C |
1: 63,758,681 (GRCm39) |
N304D |
probably benign |
Het |
Mfsd4b3-ps |
G |
T |
10: 39,823,929 (GRCm39) |
N110K |
probably benign |
Het |
Mtus2 |
T |
C |
5: 148,214,443 (GRCm39) |
S1035P |
probably damaging |
Het |
Muc21 |
T |
A |
17: 35,931,940 (GRCm39) |
|
probably benign |
Het |
Myh11 |
T |
A |
16: 14,018,622 (GRCm39) |
D1908V |
probably damaging |
Het |
Myh11 |
T |
C |
16: 14,033,654 (GRCm39) |
E1080G |
probably damaging |
Het |
Mypn |
A |
C |
10: 62,971,976 (GRCm39) |
M688R |
probably benign |
Het |
Nat8l |
G |
T |
5: 34,158,130 (GRCm39) |
C180F |
probably damaging |
Het |
Nip7 |
T |
A |
8: 107,784,018 (GRCm39) |
L86Q |
probably damaging |
Het |
Nisch |
C |
T |
14: 30,896,839 (GRCm39) |
|
probably benign |
Het |
Nop2 |
A |
G |
6: 125,114,601 (GRCm39) |
I283V |
probably benign |
Het |
Oas1h |
T |
A |
5: 121,009,840 (GRCm39) |
|
probably null |
Het |
Or10ag56 |
T |
C |
2: 87,139,196 (GRCm39) |
V41A |
probably benign |
Het |
Or2g25 |
A |
C |
17: 37,970,564 (GRCm39) |
I220S |
probably damaging |
Het |
Or4c101 |
C |
A |
2: 88,390,402 (GRCm39) |
D185E |
possibly damaging |
Het |
Or4c104 |
T |
C |
2: 88,586,117 (GRCm39) |
R301G |
probably benign |
Het |
Or56b1b |
A |
T |
7: 108,164,564 (GRCm39) |
L146* |
probably null |
Het |
Or5w17 |
T |
A |
2: 87,583,530 (GRCm39) |
D269V |
probably damaging |
Het |
Or8b42 |
T |
A |
9: 38,341,986 (GRCm39) |
M136K |
probably damaging |
Het |
P4hb |
A |
G |
11: 120,453,546 (GRCm39) |
V373A |
probably damaging |
Het |
Pappa2 |
C |
A |
1: 158,590,720 (GRCm39) |
E1645* |
probably null |
Het |
Pcdh10 |
G |
T |
3: 45,336,316 (GRCm39) |
E877* |
probably null |
Het |
Pcdhb17 |
C |
T |
18: 37,618,764 (GRCm39) |
R185C |
probably damaging |
Het |
Pcdhb17 |
A |
G |
18: 37,620,070 (GRCm39) |
H620R |
possibly damaging |
Het |
Pdcl3 |
T |
A |
1: 39,034,946 (GRCm39) |
F168I |
probably damaging |
Het |
Pde4a |
T |
A |
9: 21,114,528 (GRCm39) |
I365N |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,385,950 (GRCm39) |
V940A |
probably damaging |
Het |
Picalm |
T |
A |
7: 89,840,390 (GRCm39) |
S399T |
possibly damaging |
Het |
Pigk |
A |
T |
3: 152,450,101 (GRCm39) |
I249F |
probably damaging |
Het |
Plxnb1 |
C |
A |
9: 108,940,836 (GRCm39) |
H1570Q |
probably benign |
Het |
Plxnc1 |
A |
G |
10: 94,635,359 (GRCm39) |
Y1321H |
probably damaging |
Het |
Ppm1g |
G |
A |
5: 31,363,560 (GRCm39) |
S114F |
probably damaging |
Het |
Rassf4 |
A |
G |
6: 116,617,228 (GRCm39) |
M259T |
probably damaging |
Het |
Rbm47 |
T |
C |
5: 66,176,653 (GRCm39) |
K557E |
possibly damaging |
Het |
Rhobtb1 |
A |
G |
10: 69,115,236 (GRCm39) |
K21R |
probably damaging |
Het |
Selenoi |
T |
C |
5: 30,462,771 (GRCm39) |
F212S |
probably benign |
Het |
Shc3 |
T |
G |
13: 51,603,328 (GRCm39) |
Y259S |
probably damaging |
Het |
Skic3 |
T |
A |
13: 76,288,720 (GRCm39) |
L951Q |
possibly damaging |
Het |
Slc11a2 |
T |
C |
15: 100,299,168 (GRCm39) |
N134S |
probably damaging |
Het |
Slc9a7 |
A |
T |
X: 20,028,717 (GRCm39) |
M368K |
probably damaging |
Het |
Slx4ip |
T |
A |
2: 136,888,669 (GRCm39) |
C117S |
probably damaging |
Het |
Spata31d1d |
T |
A |
13: 59,876,509 (GRCm39) |
Q342L |
probably benign |
Het |
Spink13 |
T |
A |
18: 62,740,820 (GRCm39) |
Y93F |
probably damaging |
Het |
St6galnac5 |
A |
T |
3: 152,551,958 (GRCm39) |
I203N |
possibly damaging |
Het |
Syne2 |
T |
A |
12: 76,099,579 (GRCm39) |
C5335S |
probably damaging |
Het |
Tagap |
T |
A |
17: 8,148,742 (GRCm39) |
D173E |
probably benign |
Het |
Tekt3 |
A |
C |
11: 62,960,867 (GRCm39) |
Y12S |
probably damaging |
Het |
Tmem81 |
T |
A |
1: 132,435,321 (GRCm39) |
N42K |
probably damaging |
Het |
Tnc |
A |
G |
4: 63,890,972 (GRCm39) |
W1728R |
probably damaging |
Het |
Ttc33 |
C |
T |
15: 5,241,579 (GRCm39) |
R135* |
probably null |
Het |
Unc5c |
A |
G |
3: 141,533,278 (GRCm39) |
D842G |
possibly damaging |
Het |
Usp43 |
A |
T |
11: 67,770,779 (GRCm39) |
H618Q |
probably damaging |
Het |
Vmn2r50 |
T |
G |
7: 9,786,915 (GRCm39) |
N64T |
possibly damaging |
Het |
Vmn2r53 |
T |
C |
7: 12,315,632 (GRCm39) |
Y729C |
probably damaging |
Het |
Vmn2r59 |
T |
A |
7: 41,695,251 (GRCm39) |
H387L |
possibly damaging |
Het |
Vstm2a |
G |
T |
11: 16,213,166 (GRCm39) |
V184F |
possibly damaging |
Het |
Wdr53 |
T |
G |
16: 32,070,935 (GRCm39) |
N93K |
probably damaging |
Het |
Wdr95 |
A |
G |
5: 149,505,351 (GRCm39) |
|
probably null |
Het |
Xpot |
A |
T |
10: 121,438,932 (GRCm39) |
|
probably null |
Het |
Xrcc5 |
C |
T |
1: 72,364,246 (GRCm39) |
Q233* |
probably null |
Het |
Zbtb18 |
T |
A |
1: 177,275,077 (GRCm39) |
C137S |
possibly damaging |
Het |
Zfp58 |
C |
A |
13: 67,639,598 (GRCm39) |
G298* |
probably null |
Het |
Zfp963 |
A |
G |
8: 70,196,100 (GRCm39) |
S118P |
possibly damaging |
Het |
Zmynd15 |
A |
T |
11: 70,353,393 (GRCm39) |
Q336L |
probably benign |
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 |
R1523:Cacna1g
|
UTSW |
11 |
94,333,555 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
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'- CGTTCAGATGCGAACTTGCAACC -3'
(R):5'- TCAGATGTCACCAATGGGTCCTCAG -3'
Sequencing Primer
(F):5'- ATGCCCAGGATGCTGGAG -3'
(R):5'- CACCAATGGGTCCTCAGAAAGG -3'
|
Posted On |
2014-05-23 |