Incidental Mutation 'R1751:Cacna1g'
ID |
193532 |
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 |
039783-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.450)
|
Stock # |
R1751 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
94299217-94365024 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 94350628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 406
(S406G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021234
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021234]
[ENSMUST00000100561]
[ENSMUST00000103166]
[ENSMUST00000107785]
[ENSMUST00000107786]
[ENSMUST00000107788]
[ENSMUST00000107789]
[ENSMUST00000107790]
[ENSMUST00000107791]
[ENSMUST00000107792]
[ENSMUST00000107793]
|
AlphaFold |
Q5SUF7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021234
AA Change: S406G
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000021234 Gene: ENSMUSG00000020866 AA Change: S406G
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: S406G
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000098127 Gene: ENSMUSG00000020866 AA Change: S406G
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: S406G
PolyPhen 2
Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000099455 Gene: ENSMUSG00000020866 AA Change: S406G
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: S406G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000103414 Gene: ENSMUSG00000020866 AA Change: S406G
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 benign
Transcript: ENSMUST00000107786
AA Change: S389G
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000103415 Gene: ENSMUSG00000020866 AA Change: S389G
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 benign
Transcript: ENSMUST00000107788
AA Change: S406G
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000103417 Gene: ENSMUSG00000020866 AA Change: S406G
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: S406G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000103418 Gene: ENSMUSG00000020866 AA Change: S406G
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 |
noncoding transcript
Transcript: ENSMUST00000152811
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107790
AA Change: S406G
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000103419 Gene: ENSMUSG00000020866 AA Change: S406G
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 benign
Transcript: ENSMUST00000107791
AA Change: S406G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000103420 Gene: ENSMUSG00000020866 AA Change: S406G
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 benign
Transcript: ENSMUST00000107792
AA Change: S406G
PolyPhen 2
Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000103421 Gene: ENSMUSG00000020866 AA Change: S406G
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 benign
Transcript: ENSMUST00000107793
AA Change: S406G
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000103422 Gene: ENSMUSG00000020866 AA Change: S406G
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 |
|
Meta Mutation Damage Score |
0.0705 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
Validation Efficiency |
99% (85/86) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26b |
T |
A |
8: 43,972,948 (GRCm39) |
I685F |
probably benign |
Het |
Alcam |
A |
T |
16: 52,091,077 (GRCm39) |
N480K |
probably damaging |
Het |
Arhgef2 |
A |
G |
3: 88,551,260 (GRCm39) |
Q778R |
probably damaging |
Het |
Ascc3 |
T |
A |
10: 50,594,472 (GRCm39) |
I1189N |
probably damaging |
Het |
AU040320 |
G |
A |
4: 126,734,517 (GRCm39) |
G713D |
probably damaging |
Het |
Bank1 |
G |
T |
3: 135,940,375 (GRCm39) |
R203S |
probably benign |
Het |
Bank1 |
A |
G |
3: 135,960,698 (GRCm39) |
V53A |
probably benign |
Het |
Ccdc198 |
G |
A |
14: 49,473,341 (GRCm39) |
T128I |
probably benign |
Het |
Ccdc40 |
T |
A |
11: 119,121,522 (GRCm39) |
|
probably null |
Het |
Cdc5l |
A |
T |
17: 45,718,731 (GRCm39) |
D628E |
probably benign |
Het |
Chd3 |
G |
A |
11: 69,244,727 (GRCm39) |
|
probably benign |
Het |
Clstn3 |
A |
T |
6: 124,408,958 (GRCm39) |
W860R |
probably damaging |
Het |
Cntn4 |
G |
A |
6: 106,595,371 (GRCm39) |
|
probably null |
Het |
Coq10b |
A |
G |
1: 55,100,513 (GRCm39) |
R66G |
probably damaging |
Het |
Cpn2 |
A |
T |
16: 30,078,485 (GRCm39) |
Y405* |
probably null |
Het |
Cyp2b9 |
T |
C |
7: 25,886,100 (GRCm39) |
V89A |
probably benign |
Het |
Depdc1a |
T |
C |
3: 159,228,924 (GRCm39) |
C559R |
probably damaging |
Het |
Ephx1 |
C |
T |
1: 180,822,242 (GRCm39) |
G101S |
probably damaging |
Het |
Fam20a |
A |
T |
11: 109,568,664 (GRCm39) |
N287K |
probably damaging |
Het |
Flg |
A |
T |
3: 93,187,220 (GRCm39) |
Y224F |
possibly damaging |
Het |
Fzd8 |
C |
T |
18: 9,213,643 (GRCm39) |
R242C |
probably damaging |
Het |
Gart |
A |
C |
16: 91,439,837 (GRCm39) |
|
probably benign |
Het |
Gm11116 |
T |
C |
5: 88,259,311 (GRCm39) |
|
probably benign |
Het |
Gm5519 |
T |
C |
19: 33,802,391 (GRCm39) |
Y145H |
possibly damaging |
Het |
Gmeb1 |
G |
A |
4: 131,962,198 (GRCm39) |
Q154* |
probably null |
Het |
Gnas |
T |
A |
2: 174,139,687 (GRCm39) |
|
probably benign |
Het |
Greb1 |
A |
G |
12: 16,773,439 (GRCm39) |
|
probably benign |
Het |
Grin3a |
A |
T |
4: 49,844,423 (GRCm39) |
V220E |
probably damaging |
Het |
Gstt2 |
T |
C |
10: 75,670,098 (GRCm39) |
D8G |
probably damaging |
Het |
Gucy2c |
A |
T |
6: 136,725,773 (GRCm39) |
|
probably benign |
Het |
Igf2r |
A |
C |
17: 12,916,328 (GRCm39) |
S1677A |
possibly damaging |
Het |
Jmjd1c |
T |
C |
10: 67,061,469 (GRCm39) |
L1274P |
probably benign |
Het |
Krt13 |
A |
C |
11: 100,011,926 (GRCm39) |
H132Q |
possibly damaging |
Het |
L1td1 |
T |
C |
4: 98,625,686 (GRCm39) |
V627A |
probably benign |
Het |
Lrp6 |
A |
G |
6: 134,441,531 (GRCm39) |
L1145S |
probably damaging |
Het |
Lrrn4cl |
A |
G |
19: 8,829,135 (GRCm39) |
T38A |
probably benign |
Het |
Ly96 |
A |
G |
1: 16,776,399 (GRCm39) |
T112A |
probably benign |
Het |
Meltf |
G |
T |
16: 31,702,747 (GRCm39) |
C158F |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,485,841 (GRCm39) |
H1040Q |
probably damaging |
Het |
Nol8 |
A |
T |
13: 49,820,884 (GRCm39) |
T914S |
probably benign |
Het |
Npas4 |
G |
A |
19: 5,038,211 (GRCm39) |
P199L |
probably benign |
Het |
Or12d17 |
A |
T |
17: 37,777,792 (GRCm39) |
M232L |
probably benign |
Het |
Pcdh10 |
A |
T |
3: 45,338,612 (GRCm39) |
H923L |
probably damaging |
Het |
Pcp4 |
A |
C |
16: 96,326,689 (GRCm39) |
Q290P |
probably damaging |
Het |
Pdlim1 |
C |
T |
19: 40,240,348 (GRCm39) |
|
probably benign |
Het |
Pias3 |
T |
C |
3: 96,608,719 (GRCm39) |
S228P |
probably damaging |
Het |
Pign |
A |
G |
1: 105,580,917 (GRCm39) |
V154A |
probably benign |
Het |
Pik3c2a |
A |
C |
7: 115,945,471 (GRCm39) |
V1445G |
probably damaging |
Het |
Plod3 |
T |
A |
5: 137,019,030 (GRCm39) |
V305E |
possibly damaging |
Het |
Plxnc1 |
A |
G |
10: 94,685,677 (GRCm39) |
|
probably benign |
Het |
Prkra |
G |
T |
2: 76,477,584 (GRCm39) |
H40Q |
possibly damaging |
Het |
Retnlg |
A |
T |
16: 48,693,991 (GRCm39) |
D49V |
possibly damaging |
Het |
Rfx2 |
A |
G |
17: 57,091,754 (GRCm39) |
V313A |
probably benign |
Het |
Robo2 |
A |
G |
16: 73,831,912 (GRCm39) |
V256A |
probably damaging |
Het |
Rtp1 |
A |
G |
16: 23,250,124 (GRCm39) |
E163G |
probably damaging |
Het |
Sbpl |
A |
G |
17: 24,173,777 (GRCm39) |
|
probably null |
Het |
Scg3 |
G |
A |
9: 75,576,622 (GRCm39) |
T251M |
probably damaging |
Het |
Setbp1 |
T |
C |
18: 78,900,613 (GRCm39) |
D1018G |
probably damaging |
Het |
Slc38a11 |
T |
A |
2: 65,180,452 (GRCm39) |
I182F |
probably benign |
Het |
Slc6a20a |
T |
A |
9: 123,466,165 (GRCm39) |
I522F |
probably damaging |
Het |
Smarca2 |
T |
C |
19: 26,617,780 (GRCm39) |
|
probably benign |
Het |
Ssbp3 |
G |
T |
4: 106,904,612 (GRCm39) |
D336Y |
probably damaging |
Het |
Stox1 |
T |
C |
10: 62,495,445 (GRCm39) |
T943A |
probably damaging |
Het |
Sun2 |
A |
G |
15: 79,609,758 (GRCm39) |
S694P |
probably benign |
Het |
Tdp1 |
G |
A |
12: 99,857,602 (GRCm39) |
|
probably null |
Het |
Tfap2a |
A |
T |
13: 40,878,613 (GRCm39) |
I204N |
probably damaging |
Het |
Tfip11 |
T |
A |
5: 112,482,298 (GRCm39) |
W519R |
probably damaging |
Het |
Tie1 |
T |
C |
4: 118,333,373 (GRCm39) |
E831G |
possibly damaging |
Het |
Tln2 |
C |
T |
9: 67,193,796 (GRCm39) |
A1773T |
probably benign |
Het |
Tmem39b |
A |
C |
4: 129,586,976 (GRCm39) |
I78M |
possibly damaging |
Het |
Trank1 |
T |
C |
9: 111,220,547 (GRCm39) |
V2428A |
probably benign |
Het |
Trim35 |
A |
G |
14: 66,541,617 (GRCm39) |
E247G |
probably damaging |
Het |
Trpc7 |
T |
A |
13: 56,923,956 (GRCm39) |
D743V |
probably damaging |
Het |
Trrap |
T |
C |
5: 144,751,385 (GRCm39) |
|
probably null |
Het |
Tsc1 |
A |
G |
2: 28,566,038 (GRCm39) |
I485V |
probably damaging |
Het |
Tsc22d1 |
T |
C |
14: 76,655,542 (GRCm39) |
S674P |
probably damaging |
Het |
Tsn |
A |
T |
1: 118,228,618 (GRCm39) |
D201E |
probably damaging |
Het |
Tsr3 |
T |
C |
17: 25,461,613 (GRCm39) |
I317T |
possibly damaging |
Het |
Tubb1 |
A |
G |
2: 174,298,689 (GRCm39) |
S124G |
probably benign |
Het |
Vmn1r192 |
A |
G |
13: 22,371,441 (GRCm39) |
S260P |
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,682,786 (GRCm39) |
V806E |
probably damaging |
Het |
Wnt10b |
A |
T |
15: 98,670,556 (GRCm39) |
L228Q |
probably damaging |
Het |
Zfp108 |
C |
A |
7: 23,961,321 (GRCm39) |
H637Q |
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 |
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 |
R1750:Cacna1g
|
UTSW |
11 |
94,334,118 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- AACTCTGAGCGTCCCATTACCCAG -3'
(R):5'- AGGTACTCCATTGATTGTGGCAGC -3'
Sequencing Primer
(F):5'- gtggtagtggtgatggtgg -3'
(R):5'- CTTCATGATCAACCTGTGCC -3'
|
Posted On |
2014-05-23 |