Incidental Mutation 'R6145:Cacna1g'
| ID |
488829 |
| 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 |
044292-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.548)
|
| Stock # |
R6145 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94408391-94474198 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94462261 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 313
(C313S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103421
(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 damaging
Transcript: ENSMUST00000021234
AA Change: C313S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021234
Gene: ENSMUSG00000020866
AA Change: C313S
| 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: C313S
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000098127
Gene: ENSMUSG00000020866
AA Change: C313S
| 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: C313S
PolyPhen 2
Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099455
Gene: ENSMUSG00000020866
AA Change: C313S
| 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: C313S
PolyPhen 2
Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103414
Gene: ENSMUSG00000020866
AA Change: C313S
| 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: C313S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103415
Gene: ENSMUSG00000020866
AA Change: C313S
| 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: C313S
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000103417
Gene: ENSMUSG00000020866
AA Change: C313S
| 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: C313S
PolyPhen 2
Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103418
Gene: ENSMUSG00000020866
AA Change: C313S
| 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: ENSMUST00000107790
AA Change: C313S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103419
Gene: ENSMUSG00000020866
AA Change: C313S
| 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: ENSMUST00000107791
AA Change: C313S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103420
Gene: ENSMUSG00000020866
AA Change: C313S
| 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 damaging
Transcript: ENSMUST00000107792
AA Change: C313S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103421
Gene: ENSMUSG00000020866
AA Change: C313S
| 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: ENSMUST00000107793
AA Change: C313S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103422
Gene: ENSMUSG00000020866
AA Change: C313S
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 98.0%
- 20x: 95.0%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810459M11Rik |
T |
A |
1: 86,052,942 (GRCm38) |
|
probably null |
Het |
| Abca8b |
A |
G |
11: 109,973,808 (GRCm38) |
V316A |
probably benign |
Het |
| Acad10 |
A |
T |
5: 121,622,033 (GRCm38) |
V999D |
probably damaging |
Het |
| Acot8 |
A |
G |
2: 164,803,065 (GRCm38) |
V66A |
probably benign |
Het |
| Ankrd11 |
T |
C |
8: 122,892,661 (GRCm38) |
H1484R |
probably damaging |
Het |
| Anxa6 |
A |
G |
11: 54,994,904 (GRCm38) |
F405S |
probably damaging |
Het |
| Asmt |
G |
A |
X: 170,674,663 (GRCm38) |
V101I |
probably damaging |
Het |
| Atp1a2 |
C |
T |
1: 172,287,238 (GRCm38) |
V327I |
probably damaging |
Het |
| Brdt |
A |
G |
5: 107,377,999 (GRCm38) |
E906G |
possibly damaging |
Het |
| Camk2d |
T |
C |
3: 126,805,858 (GRCm38) |
I329T |
probably benign |
Het |
| Cavin4 |
A |
T |
4: 48,663,794 (GRCm38) |
H58L |
probably damaging |
Het |
| Ccdc78 |
C |
A |
17: 25,789,065 (GRCm38) |
P317T |
probably benign |
Het |
| Cdc16 |
T |
G |
8: 13,767,573 (GRCm38) |
Y295D |
possibly damaging |
Het |
| Cdyl2 |
T |
A |
8: 116,594,978 (GRCm38) |
N270I |
probably damaging |
Het |
| Cfap221 |
T |
A |
1: 119,984,816 (GRCm38) |
I114F |
possibly damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,912,766 (GRCm38) |
E2414G |
possibly damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,778,473 (GRCm38) |
I247V |
probably benign |
Het |
| Dnah1 |
C |
A |
14: 31,300,970 (GRCm38) |
R1070L |
probably benign |
Het |
| Dnah14 |
T |
C |
1: 181,666,417 (GRCm38) |
S1713P |
probably benign |
Het |
| Dock10 |
C |
A |
1: 80,575,904 (GRCm38) |
G602* |
probably null |
Het |
| Ep400 |
A |
T |
5: 110,756,703 (GRCm38) |
V10D |
possibly damaging |
Het |
| Epas1 |
T |
C |
17: 86,829,429 (GRCm38) |
C807R |
probably benign |
Het |
| Esrrb |
C |
T |
12: 86,505,899 (GRCm38) |
P200L |
probably benign |
Het |
| Fbxw26 |
T |
C |
9: 109,732,623 (GRCm38) |
I168V |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,993,768 (GRCm38) |
H6615L |
possibly damaging |
Het |
| Galk2 |
A |
T |
2: 125,946,842 (GRCm38) |
Q272L |
possibly damaging |
Het |
| Gas7 |
A |
C |
11: 67,629,612 (GRCm38) |
T43P |
probably damaging |
Het |
| Gm5134 |
A |
T |
10: 75,995,839 (GRCm38) |
I371F |
probably damaging |
Het |
| Gpr31b |
C |
T |
17: 13,051,379 (GRCm38) |
R301Q |
possibly damaging |
Het |
| Grk1 |
T |
A |
8: 13,405,765 (GRCm38) |
Y216* |
probably null |
Het |
| Grm5 |
T |
A |
7: 88,026,601 (GRCm38) |
M441K |
probably damaging |
Het |
| Heatr6 |
A |
G |
11: 83,766,136 (GRCm38) |
E408G |
probably damaging |
Het |
| Hoxc9 |
G |
T |
15: 102,983,959 (GRCm38) |
K201N |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,331,656 (GRCm38) |
Y368F |
possibly damaging |
Het |
| Il2ra |
A |
T |
2: 11,680,246 (GRCm38) |
D131V |
probably damaging |
Het |
| Imp4 |
A |
G |
1: 34,440,096 (GRCm38) |
E19G |
probably benign |
Het |
| Kcnk18 |
T |
C |
19: 59,235,607 (GRCm38) |
*395Q |
probably null |
Het |
| Kdm6b |
A |
T |
11: 69,405,026 (GRCm38) |
L805Q |
unknown |
Het |
| Lgr4 |
T |
A |
2: 110,007,243 (GRCm38) |
L427* |
probably null |
Het |
| Myt1l |
G |
A |
12: 29,832,381 (GRCm38) |
S525N |
unknown |
Het |
| Nasp |
G |
A |
4: 116,611,077 (GRCm38) |
T237I |
probably benign |
Het |
| Nell2 |
G |
T |
15: 95,473,561 (GRCm38) |
Q98K |
probably damaging |
Het |
| Nfasc |
C |
T |
1: 132,634,717 (GRCm38) |
G107R |
probably damaging |
Het |
| Nsun4 |
A |
G |
4: 116,040,206 (GRCm38) |
S203P |
probably damaging |
Het |
| Or1m1 |
T |
G |
9: 18,755,569 (GRCm38) |
D22A |
probably benign |
Het |
| Or7g35 |
T |
C |
9: 19,584,888 (GRCm38) |
V117A |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,777,117 (GRCm38) |
|
silent |
Het |
| Pde10a |
T |
C |
17: 8,929,117 (GRCm38) |
V366A |
probably damaging |
Het |
| Pdxk |
T |
A |
10: 78,443,791 (GRCm38) |
D250V |
probably benign |
Het |
| Pih1d1 |
T |
A |
7: 45,159,044 (GRCm38) |
I179N |
probably damaging |
Het |
| Plaa |
T |
A |
4: 94,583,992 (GRCm38) |
I294F |
probably damaging |
Het |
| Pmel |
C |
A |
10: 128,715,935 (GRCm38) |
P213T |
probably damaging |
Het |
| Pom121l2 |
A |
T |
13: 21,982,302 (GRCm38) |
R248* |
probably null |
Het |
| Pou2f1 |
T |
C |
1: 165,875,433 (GRCm38) |
|
probably benign |
Het |
| Ppm1j |
G |
A |
3: 104,781,379 (GRCm38) |
R98H |
probably damaging |
Het |
| Prkdc |
C |
T |
16: 15,772,073 (GRCm38) |
P2600L |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,029,649 (GRCm38) |
N422S |
probably benign |
Het |
| Pspn |
C |
T |
17: 56,999,467 (GRCm38) |
C154Y |
probably damaging |
Het |
| Ptdss1 |
T |
C |
13: 66,972,637 (GRCm38) |
|
probably null |
Het |
| Rapgef1 |
A |
G |
2: 29,736,666 (GRCm38) |
Y993C |
probably damaging |
Het |
| Scrn2 |
A |
C |
11: 97,032,853 (GRCm38) |
T219P |
probably benign |
Het |
| Sec23ip |
T |
G |
7: 128,778,484 (GRCm38) |
S874R |
probably damaging |
Het |
| Septin4 |
G |
A |
11: 87,585,246 (GRCm38) |
|
probably null |
Het |
| Slc15a3 |
C |
T |
19: 10,857,251 (GRCm38) |
L499F |
probably damaging |
Het |
| Spaca9 |
G |
A |
2: 28,693,781 (GRCm38) |
R64W |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,667,575 (GRCm38) |
M193T |
probably damaging |
Het |
| Srsf4 |
G |
T |
4: 131,900,294 (GRCm38) |
|
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,052,750 (GRCm38) |
D8055G |
probably damaging |
Het |
| Syne4 |
T |
A |
7: 30,316,563 (GRCm38) |
|
probably null |
Het |
| Tbc1d24 |
C |
A |
17: 24,208,229 (GRCm38) |
G253V |
probably damaging |
Het |
| Tbck |
T |
A |
3: 132,732,215 (GRCm38) |
I467N |
probably damaging |
Het |
| Tln1 |
T |
A |
4: 43,538,030 (GRCm38) |
M1857L |
possibly damaging |
Het |
| Ttll2 |
T |
C |
17: 7,351,632 (GRCm38) |
R299G |
probably benign |
Het |
| Ugt2b36 |
T |
G |
5: 87,066,213 (GRCm38) |
E524A |
probably benign |
Het |
| Vmn2r124 |
C |
T |
17: 18,062,851 (GRCm38) |
T269I |
probably benign |
Het |
| Vmn2r4 |
A |
G |
3: 64,406,943 (GRCm38) |
F206L |
probably benign |
Het |
| Zfp346 |
A |
G |
13: 55,115,574 (GRCm38) |
K156R |
probably damaging |
Het |
|
| Other mutations in Cacna1g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01300:Cacna1g
|
APN |
11 |
94,433,912 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL01382:Cacna1g
|
APN |
11 |
94,465,858 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01694:Cacna1g
|
APN |
11 |
94,429,112 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01866:Cacna1g
|
APN |
11 |
94,457,111 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02341:Cacna1g
|
APN |
11 |
94,462,152 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02506:Cacna1g
|
APN |
11 |
94,429,129 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02706:Cacna1g
|
APN |
11 |
94,456,992 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02879:Cacna1g
|
APN |
11 |
94,409,605 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL03366:Cacna1g
|
APN |
11 |
94,457,151 (GRCm38) |
missense |
probably damaging |
1.00 |
|
ANU23:Cacna1g
|
UTSW |
11 |
94,466,228 (GRCm38) |
critical splice acceptor site |
probably benign |
|
|
IGL03134:Cacna1g
|
UTSW |
11 |
94,459,825 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0092:Cacna1g
|
UTSW |
11 |
94,457,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0123:Cacna1g
|
UTSW |
11 |
94,409,476 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0178:Cacna1g
|
UTSW |
11 |
94,463,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0375:Cacna1g
|
UTSW |
11 |
94,411,054 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R0389:Cacna1g
|
UTSW |
11 |
94,459,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0433:Cacna1g
|
UTSW |
11 |
94,459,207 (GRCm38) |
missense |
probably benign |
0.16 |
|
R0458:Cacna1g
|
UTSW |
11 |
94,409,440 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0498:Cacna1g
|
UTSW |
11 |
94,459,859 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0629:Cacna1g
|
UTSW |
11 |
94,409,543 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0800:Cacna1g
|
UTSW |
11 |
94,426,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1341:Cacna1g
|
UTSW |
11 |
94,433,756 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1457:Cacna1g
|
UTSW |
11 |
94,459,555 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R1523:Cacna1g
|
UTSW |
11 |
94,442,729 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1532:Cacna1g
|
UTSW |
11 |
94,443,331 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1540:Cacna1g
|
UTSW |
11 |
94,457,039 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1652:Cacna1g
|
UTSW |
11 |
94,427,404 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1688:Cacna1g
|
UTSW |
11 |
94,425,953 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R1750:Cacna1g
|
UTSW |
11 |
94,443,292 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1751:Cacna1g
|
UTSW |
11 |
94,459,802 (GRCm38) |
missense |
probably benign |
0.35 |
|
R1767:Cacna1g
|
UTSW |
11 |
94,459,802 (GRCm38) |
missense |
probably benign |
0.35 |
|
R1847:Cacna1g
|
UTSW |
11 |
94,466,181 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1924:Cacna1g
|
UTSW |
11 |
94,444,054 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1973:Cacna1g
|
UTSW |
11 |
94,459,777 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R2050:Cacna1g
|
UTSW |
11 |
94,409,474 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2261:Cacna1g
|
UTSW |
11 |
94,457,135 (GRCm38) |
missense |
probably benign |
0.42 |
|
R2273:Cacna1g
|
UTSW |
11 |
94,415,936 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2274:Cacna1g
|
UTSW |
11 |
94,415,936 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2275:Cacna1g
|
UTSW |
11 |
94,415,936 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2376:Cacna1g
|
UTSW |
11 |
94,465,908 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3686:Cacna1g
|
UTSW |
11 |
94,459,090 (GRCm38) |
splice site |
probably null |
|
|
R3809:Cacna1g
|
UTSW |
11 |
94,416,096 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3875:Cacna1g
|
UTSW |
11 |
94,437,923 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4133:Cacna1g
|
UTSW |
11 |
94,432,544 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4642:Cacna1g
|
UTSW |
11 |
94,418,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4732:Cacna1g
|
UTSW |
11 |
94,443,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4733:Cacna1g
|
UTSW |
11 |
94,443,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4773:Cacna1g
|
UTSW |
11 |
94,411,472 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R4798:Cacna1g
|
UTSW |
11 |
94,433,847 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4839:Cacna1g
|
UTSW |
11 |
94,459,607 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4900:Cacna1g
|
UTSW |
11 |
94,459,351 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R4927:Cacna1g
|
UTSW |
11 |
94,429,147 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4930:Cacna1g
|
UTSW |
11 |
94,444,073 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5050:Cacna1g
|
UTSW |
11 |
94,459,715 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5117:Cacna1g
|
UTSW |
11 |
94,432,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5186:Cacna1g
|
UTSW |
11 |
94,442,848 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5364:Cacna1g
|
UTSW |
11 |
94,416,858 (GRCm38) |
missense |
probably benign |
0.29 |
|
R5512:Cacna1g
|
UTSW |
11 |
94,444,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5564:Cacna1g
|
UTSW |
11 |
94,430,486 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5603:Cacna1g
|
UTSW |
11 |
94,439,752 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R5682:Cacna1g
|
UTSW |
11 |
94,459,114 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5818:Cacna1g
|
UTSW |
11 |
94,418,120 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5828:Cacna1g
|
UTSW |
11 |
94,457,154 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5882:Cacna1g
|
UTSW |
11 |
94,459,819 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5884:Cacna1g
|
UTSW |
11 |
94,437,867 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6075:Cacna1g
|
UTSW |
11 |
94,416,665 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6112:Cacna1g
|
UTSW |
11 |
94,409,246 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6122:Cacna1g
|
UTSW |
11 |
94,430,171 (GRCm38) |
missense |
probably benign |
0.11 |
|
R6362:Cacna1g
|
UTSW |
11 |
94,439,707 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6415:Cacna1g
|
UTSW |
11 |
94,463,417 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6468:Cacna1g
|
UTSW |
11 |
94,439,722 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6648:Cacna1g
|
UTSW |
11 |
94,432,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6746:Cacna1g
|
UTSW |
11 |
94,409,427 (GRCm38) |
nonsense |
probably null |
|
|
R6764:Cacna1g
|
UTSW |
11 |
94,413,188 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6782:Cacna1g
|
UTSW |
11 |
94,459,550 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6888:Cacna1g
|
UTSW |
11 |
94,459,207 (GRCm38) |
missense |
probably benign |
0.16 |
|
R7148:Cacna1g
|
UTSW |
11 |
94,465,930 (GRCm38) |
missense |
probably benign |
0.32 |
|
R7181:Cacna1g
|
UTSW |
11 |
94,415,865 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7183:Cacna1g
|
UTSW |
11 |
94,439,737 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7193:Cacna1g
|
UTSW |
11 |
94,409,231 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R7237:Cacna1g
|
UTSW |
11 |
94,437,879 (GRCm38) |
missense |
probably benign |
0.21 |
|
R7254:Cacna1g
|
UTSW |
11 |
94,432,567 (GRCm38) |
nonsense |
probably null |
|
|
R7312:Cacna1g
|
UTSW |
11 |
94,432,557 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7451:Cacna1g
|
UTSW |
11 |
94,429,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7470:Cacna1g
|
UTSW |
11 |
94,461,939 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R7534:Cacna1g
|
UTSW |
11 |
94,411,078 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7585:Cacna1g
|
UTSW |
11 |
94,473,542 (GRCm38) |
missense |
probably benign |
0.39 |
|
R7706:Cacna1g
|
UTSW |
11 |
94,415,041 (GRCm38) |
missense |
probably benign |
0.06 |
|
R7812:Cacna1g
|
UTSW |
11 |
94,444,054 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7918:Cacna1g
|
UTSW |
11 |
94,444,030 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7947:Cacna1g
|
UTSW |
11 |
94,457,175 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8013:Cacna1g
|
UTSW |
11 |
94,456,970 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8016:Cacna1g
|
UTSW |
11 |
94,443,181 (GRCm38) |
missense |
probably benign |
0.36 |
|
R8029:Cacna1g
|
UTSW |
11 |
94,409,738 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8098:Cacna1g
|
UTSW |
11 |
94,416,512 (GRCm38) |
missense |
probably benign |
0.20 |
|
R8264:Cacna1g
|
UTSW |
11 |
94,473,566 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8478:Cacna1g
|
UTSW |
11 |
94,426,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8679:Cacna1g
|
UTSW |
11 |
94,429,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8697:Cacna1g
|
UTSW |
11 |
94,416,698 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8772:Cacna1g
|
UTSW |
11 |
94,465,887 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9011:Cacna1g
|
UTSW |
11 |
94,415,837 (GRCm38) |
missense |
probably benign |
0.21 |
|
R9085:Cacna1g
|
UTSW |
11 |
94,443,220 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9155:Cacna1g
|
UTSW |
11 |
94,459,597 (GRCm38) |
missense |
|
|
|
R9243:Cacna1g
|
UTSW |
11 |
94,457,067 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R9288:Cacna1g
|
UTSW |
11 |
94,418,071 (GRCm38) |
nonsense |
probably null |
|
|
R9408:Cacna1g
|
UTSW |
11 |
94,430,224 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9496:Cacna1g
|
UTSW |
11 |
94,465,885 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9607:Cacna1g
|
UTSW |
11 |
94,465,888 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9720:Cacna1g
|
UTSW |
11 |
94,411,471 (GRCm38) |
missense |
probably benign |
0.01 |
|
X0001:Cacna1g
|
UTSW |
11 |
94,409,645 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
X0019:Cacna1g
|
UTSW |
11 |
94,459,253 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0065:Cacna1g
|
UTSW |
11 |
94,462,425 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Cacna1g
|
UTSW |
11 |
94,438,111 (GRCm38) |
missense |
probably benign |
0.31 |
|
Z1177:Cacna1g
|
UTSW |
11 |
94,473,590 (GRCm38) |
missense |
probably benign |
0.21 |
|
Z1177:Cacna1g
|
UTSW |
11 |
94,459,596 (GRCm38) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGGCACCACTAAAGTCTC -3'
(R):5'- GGAGCCTTACTACCAGACAGAG -3'
Sequencing Primer
(F):5'- ATGAGCACTCCCAAGTTGTG -3'
(R):5'- GAATGAGGACGAGAGCCCCTTC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation