Incidental Mutation 'R9085:Cacna1g'
| ID |
690543 |
| 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 |
068904-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.339)
|
| Stock # |
R9085 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
94299217-94365024 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94334046 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 865
(V865E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098127
(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: V865E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021234
Gene: ENSMUSG00000020866
AA Change: V865E
| 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: V865E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000098127
Gene: ENSMUSG00000020866
AA Change: V865E
| 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: V865E
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000099455
Gene: ENSMUSG00000020866
AA Change: V865E
| 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: V865E
PolyPhen 2
Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103414
Gene: ENSMUSG00000020866
AA Change: V865E
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000103415
Gene: ENSMUSG00000020866
AA Change: V848E
| 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 damaging
Transcript: ENSMUST00000107788
AA Change: V865E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103417
Gene: ENSMUSG00000020866
AA Change: V865E
| 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 |
possibly damaging
Transcript: ENSMUST00000107789
AA Change: V865E
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103418
Gene: ENSMUSG00000020866
AA Change: V865E
| 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: V865E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103419
Gene: ENSMUSG00000020866
AA Change: V865E
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000103420
Gene: ENSMUSG00000020866
AA Change: V865E
| 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: V865E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103421
Gene: ENSMUSG00000020866
AA Change: V865E
| 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: V865E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103422
Gene: ENSMUSG00000020866
AA Change: V865E
| 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 |
0.9747 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (72/72) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg1l |
G |
A |
10: 42,194,637 (GRCm39) |
T385M |
probably damaging |
Het |
| Arhgap29 |
T |
A |
3: 121,808,249 (GRCm39) |
D1142E |
probably benign |
Het |
| Ash1l |
C |
T |
3: 88,889,294 (GRCm39) |
A391V |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,891,529 (GRCm39) |
V1136A |
probably benign |
Het |
| Cacna1c |
G |
T |
6: 118,615,466 (GRCm39) |
Y1308* |
probably null |
Het |
| Cbx2 |
C |
T |
11: 118,919,914 (GRCm39) |
T493M |
possibly damaging |
Het |
| Cyp2a12 |
T |
C |
7: 26,735,944 (GRCm39) |
F451S |
probably damaging |
Het |
| Dlec1 |
G |
T |
9: 118,953,252 (GRCm39) |
C572F |
probably damaging |
Het |
| Dmtn |
A |
G |
14: 70,853,534 (GRCm39) |
S92P |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,839,237 (GRCm39) |
L1225P |
|
Het |
| Dnah2 |
G |
T |
11: 69,320,224 (GRCm39) |
H3954Q |
possibly damaging |
Het |
| Dntt |
C |
T |
19: 41,044,220 (GRCm39) |
R462C |
probably damaging |
Het |
| Emc1 |
T |
C |
4: 139,094,474 (GRCm39) |
Y676H |
possibly damaging |
Het |
| Epb41l4b |
A |
T |
4: 57,041,064 (GRCm39) |
|
probably null |
Het |
| Fer |
T |
A |
17: 64,228,767 (GRCm39) |
M214K |
probably damaging |
Het |
| Fgf17 |
A |
G |
14: 70,874,436 (GRCm39) |
F129L |
probably damaging |
Het |
| Foxn3 |
C |
T |
12: 99,355,095 (GRCm39) |
S23N |
probably damaging |
Het |
| Frmd4b |
A |
C |
6: 97,269,334 (GRCm39) |
S993A |
probably benign |
Het |
| Gdap1l1 |
T |
C |
2: 163,280,508 (GRCm39) |
W15R |
probably damaging |
Het |
| Golga5 |
T |
A |
12: 102,458,476 (GRCm39) |
S640T |
probably benign |
Het |
| Gucy2g |
A |
T |
19: 55,221,597 (GRCm39) |
Y301* |
probably null |
Het |
| Il31ra |
T |
C |
13: 112,660,628 (GRCm39) |
S654G |
|
Het |
| Lmnb2 |
T |
C |
10: 80,740,091 (GRCm39) |
D442G |
probably benign |
Het |
| Lpin1 |
T |
C |
12: 16,623,715 (GRCm39) |
Y223C |
|
Het |
| Lrrc37 |
A |
G |
11: 103,507,565 (GRCm39) |
Y1468H |
unknown |
Het |
| Mast3 |
A |
T |
8: 71,249,361 (GRCm39) |
W53R |
unknown |
Het |
| Mettl2 |
T |
C |
11: 105,021,274 (GRCm39) |
V180A |
possibly damaging |
Het |
| Mospd3 |
C |
T |
5: 137,598,870 (GRCm39) |
|
probably benign |
Het |
| Mrpl18 |
A |
T |
17: 13,134,582 (GRCm39) |
V61E |
probably damaging |
Het |
| Mrtfb |
A |
C |
16: 13,230,092 (GRCm39) |
T926P |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,287,058 (GRCm39) |
C154S |
probably damaging |
Het |
| Mypn |
T |
G |
10: 62,983,894 (GRCm39) |
|
probably null |
Het |
| Nelfb |
C |
T |
2: 25,094,292 (GRCm39) |
C357Y |
probably damaging |
Het |
| Nes |
T |
G |
3: 87,887,069 (GRCm39) |
V1776G |
possibly damaging |
Het |
| Nin |
T |
A |
12: 70,076,786 (GRCm39) |
R1797* |
probably null |
Het |
| Nxpe2 |
A |
T |
9: 48,250,872 (GRCm39) |
I25K |
probably benign |
Het |
| Or4a39 |
A |
G |
2: 89,236,641 (GRCm39) |
S261P |
probably damaging |
Het |
| Or5ak24 |
T |
A |
2: 85,260,619 (GRCm39) |
T185S |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 13,062,093 (GRCm39) |
H60R |
probably damaging |
Het |
| Papss1 |
C |
A |
3: 131,324,817 (GRCm39) |
H425N |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,601,385 (GRCm39) |
N2344S |
probably benign |
Het |
| Pde6c |
G |
A |
19: 38,166,569 (GRCm39) |
V704I |
probably benign |
Het |
| Pknox1 |
C |
T |
17: 31,822,229 (GRCm39) |
T332M |
possibly damaging |
Het |
| Pla2r1 |
A |
T |
2: 60,255,791 (GRCm39) |
V1251D |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,976 (GRCm39) |
D321G |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,057,275 (GRCm39) |
S4221P |
probably damaging |
Het |
| Psg23 |
T |
G |
7: 18,348,660 (GRCm39) |
N49T |
possibly damaging |
Het |
| Qrfpr |
A |
G |
3: 36,276,099 (GRCm39) |
F97S |
probably damaging |
Het |
| Rab3ip |
G |
A |
10: 116,775,310 (GRCm39) |
S16L |
probably damaging |
Het |
| Rbm43 |
A |
G |
2: 51,824,930 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1l |
T |
C |
8: 92,014,303 (GRCm39) |
N314D |
possibly damaging |
Het |
| Rpn2 |
C |
T |
2: 157,125,567 (GRCm39) |
T26I |
possibly damaging |
Het |
| Rsph6a |
A |
T |
7: 18,799,250 (GRCm39) |
N294Y |
probably damaging |
Het |
| Serpinb9h |
T |
C |
13: 33,581,781 (GRCm39) |
Y113H |
probably damaging |
Het |
| Sesn1 |
C |
T |
10: 41,686,835 (GRCm39) |
|
probably benign |
Het |
| Sh3d19 |
T |
C |
3: 86,033,992 (GRCm39) |
Y782H |
probably damaging |
Het |
| Sh3rf1 |
C |
A |
8: 61,802,493 (GRCm39) |
D275E |
probably benign |
Het |
| Siglecg |
T |
C |
7: 43,061,049 (GRCm39) |
V374A |
probably benign |
Het |
| Slc6a11 |
A |
T |
6: 114,202,808 (GRCm39) |
I301F |
probably damaging |
Het |
| Spock1 |
A |
T |
13: 57,570,956 (GRCm39) |
F348I |
unknown |
Het |
| Sptlc2 |
T |
C |
12: 87,382,839 (GRCm39) |
K422E |
probably benign |
Het |
| Tas2r115 |
A |
T |
6: 132,714,327 (GRCm39) |
V208E |
probably benign |
Het |
| Tmem132a |
G |
T |
19: 10,843,835 (GRCm39) |
Q174K |
probably damaging |
Het |
| Tmtc1 |
A |
T |
6: 148,237,749 (GRCm39) |
Y338* |
probably null |
Het |
| Tnfaip1 |
G |
T |
11: 78,420,965 (GRCm39) |
L32I |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,067,481 (GRCm39) |
C67R |
probably benign |
Het |
| Ube2o |
C |
T |
11: 116,436,209 (GRCm39) |
G311S |
probably damaging |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Vav3 |
C |
T |
3: 109,413,722 (GRCm39) |
A220V |
probably benign |
Het |
| Xaf1 |
A |
G |
11: 72,197,419 (GRCm39) |
K132E |
probably benign |
Het |
| Zeb1 |
T |
C |
18: 5,766,716 (GRCm39) |
L409S |
probably damaging |
Het |
| Zfp51 |
T |
A |
17: 21,684,660 (GRCm39) |
L425H |
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 |
|
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 |
|
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'- CCGTTCAGATGCGAACTTGC -3'
(R):5'- AGTCTCAGATGTCACCAATGGG -3'
Sequencing Primer
(F):5'- TGCGAACTTGCAACCAAAAAGG -3'
(R):5'- CCAATGGGTCCTCAGAAAGGG -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation