Incidental Mutation 'R7182:Cacna1h'
| ID |
559079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1h
|
| Ensembl Gene |
ENSMUSG00000024112 |
| Gene Name |
calcium channel, voltage-dependent, T type, alpha 1H subunit |
| Synonyms |
alpha13.2, T-type Cav3.2, Cav3.2 |
| MMRRC Submission |
045234-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7182 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25593259-25652757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25596629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 1828
(R1828H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077586
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024999]
[ENSMUST00000078496]
[ENSMUST00000159048]
[ENSMUST00000159610]
[ENSMUST00000160377]
[ENSMUST00000160485]
[ENSMUST00000160920]
[ENSMUST00000162021]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024999
|
| SMART Domains |
Protein: ENSMUSP00000024999
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
29 |
257 |
1.06e-87 |
SMART |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078496
AA Change: R1828H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: R1828H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
138 |
418 |
8.4e-65 |
PFAM |
|
low complexity region
|
500 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
723 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
824 |
1011 |
4.7e-46 |
PFAM |
|
low complexity region
|
1130 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1248 |
1259 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1341 |
1565 |
4.5e-56 |
PFAM |
|
low complexity region
|
1576 |
1602 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1656 |
1864 |
7.8e-48 |
PFAM |
|
Pfam:PKD_channel
|
1714 |
1871 |
1.2e-10 |
PFAM |
|
Blast:Tryp_SPc
|
1915 |
2077 |
1e-38 |
BLAST |
|
low complexity region
|
2086 |
2097 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159048
AA Change: R1722H
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: R1722H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
32 |
312 |
8e-65 |
PFAM |
|
low complexity region
|
394 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
602 |
617 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
718 |
905 |
4.6e-46 |
PFAM |
|
low complexity region
|
1024 |
1041 |
N/A |
INTRINSIC |
|
low complexity region
|
1142 |
1153 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1235 |
1459 |
4.3e-56 |
PFAM |
|
low complexity region
|
1470 |
1496 |
N/A |
INTRINSIC |
|
Pfam:PKD_channel
|
1524 |
1608 |
1.6e-6 |
PFAM |
|
Pfam:Ion_trans
|
1550 |
1758 |
7.6e-48 |
PFAM |
|
Pfam:PKD_channel
|
1609 |
1765 |
1.2e-10 |
PFAM |
|
Blast:Tryp_SPc
|
1809 |
1854 |
9e-6 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159610
AA Change: R1828H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: R1828H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
99 |
430 |
7e-79 |
PFAM |
|
low complexity region
|
500 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
557 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
723 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
789 |
1023 |
2.4e-58 |
PFAM |
|
low complexity region
|
1130 |
1147 |
N/A |
INTRINSIC |
|
low complexity region
|
1248 |
1259 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
1304 |
1577 |
4.5e-65 |
PFAM |
|
Pfam:Ion_trans
|
1621 |
1876 |
4.2e-59 |
PFAM |
|
Pfam:PKD_channel
|
1629 |
1715 |
9.3e-7 |
PFAM |
|
Pfam:PKD_channel
|
1713 |
1871 |
2.2e-11 |
PFAM |
|
Blast:Tryp_SPc
|
1915 |
2077 |
1e-38 |
BLAST |
|
low complexity region
|
2086 |
2097 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160377
|
| SMART Domains |
Protein: ENSMUSP00000124008
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
4 |
154 |
1.79e-30 |
SMART |
|
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160485
|
| SMART Domains |
Protein: ENSMUSP00000124721
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
4 |
154 |
1.79e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160920
|
| SMART Domains |
Protein: ENSMUSP00000123828
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
1 |
184 |
7.18e-44 |
SMART |
|
transmembrane domain
|
201 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000123906
Gene: ENSMUSG00000024112
AA Change: R121H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
1 |
73 |
2.1e-9 |
PFAM |
|
Pfam:Ion_trans
|
72 |
170 |
2.8e-17 |
PFAM |
|
Blast:Tryp_SPc
|
209 |
291 |
3e-13 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161658
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162021
|
| SMART Domains |
Protein: ENSMUSP00000125180
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
5 |
111 |
2.35e-4 |
SMART |
|
transmembrane domain
|
128 |
150 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (70/73) |
| MGI Phenotype |
FUNCTION: Voltage-dependent Ca(2+) channels mediate the entry of Ca(2+) ions into excitable cells and are involved in a variety of Ca(2+)-dependent processes, including muscle contraction, hormone or neurotransmitter release, and gene expression. The protein encoded by this gene is an integral membrane protein that belongs to the calcium channel alpha-1 subunits family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
PHENOTYPE: Mutation of this locus results in constitutive coronary arteriole contraction and focal myocardial fibrosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,578 (GRCm39) |
V323A |
unknown |
Het |
| AC117241.1 |
A |
G |
17: 7,620,087 (GRCm39) |
V158A |
unknown |
Het |
| Acadm |
A |
G |
3: 153,647,518 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
T |
G |
1: 165,371,039 (GRCm39) |
|
probably null |
Het |
| Aldh6a1 |
C |
T |
12: 84,488,605 (GRCm39) |
A94T |
probably benign |
Het |
| Ano2 |
T |
A |
6: 125,767,256 (GRCm39) |
L229Q |
probably damaging |
Het |
| Ccdc33 |
A |
T |
9: 57,941,456 (GRCm39) |
|
probably null |
Het |
| Cep112 |
A |
C |
11: 108,573,670 (GRCm39) |
D6A |
probably benign |
Het |
| Chd9 |
T |
C |
8: 91,733,250 (GRCm39) |
F1373S |
unknown |
Het |
| Cog5 |
T |
C |
12: 31,735,707 (GRCm39) |
L158P |
probably damaging |
Het |
| Col6a3 |
G |
A |
1: 90,731,400 (GRCm39) |
Q1618* |
probably null |
Het |
| Dlg5 |
A |
G |
14: 24,294,924 (GRCm39) |
V3A |
|
Het |
| Dnah7a |
T |
A |
1: 53,659,620 (GRCm39) |
|
probably null |
Het |
| Dpp10 |
A |
T |
1: 123,268,880 (GRCm39) |
H716Q |
probably benign |
Het |
| Epor |
A |
G |
9: 21,874,625 (GRCm39) |
F35L |
probably benign |
Het |
| Ergic1 |
A |
T |
17: 26,873,856 (GRCm39) |
Y92F |
|
Het |
| Fam98a |
G |
A |
17: 75,846,013 (GRCm39) |
Q273* |
probably null |
Het |
| Fhdc1 |
G |
A |
3: 84,356,157 (GRCm39) |
T429I |
probably damaging |
Het |
| Fmnl2 |
T |
A |
2: 52,997,453 (GRCm39) |
L468Q |
unknown |
Het |
| Fmnl3 |
C |
T |
15: 99,219,663 (GRCm39) |
R695Q |
probably damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,811,333 (GRCm39) |
M271V |
probably damaging |
Het |
| Garin4 |
C |
T |
1: 190,895,548 (GRCm39) |
R365H |
probably damaging |
Het |
| Gk5 |
G |
T |
9: 96,001,579 (GRCm39) |
V26L |
possibly damaging |
Het |
| Gm14412 |
A |
C |
2: 177,007,408 (GRCm39) |
N162K |
probably benign |
Het |
| Gm3604 |
T |
C |
13: 62,519,689 (GRCm39) |
D22G |
probably damaging |
Het |
| Gm5565 |
G |
T |
5: 146,094,865 (GRCm39) |
H294N |
probably benign |
Het |
| Hsf2 |
T |
A |
10: 57,381,272 (GRCm39) |
D287E |
possibly damaging |
Het |
| Ift70b |
A |
T |
2: 75,768,293 (GRCm39) |
Y153* |
probably null |
Het |
| Impdh2 |
G |
A |
9: 108,440,407 (GRCm39) |
R231H |
possibly damaging |
Het |
| Irak3 |
T |
C |
10: 120,002,416 (GRCm39) |
H234R |
probably damaging |
Het |
| Lrba |
GTTCCCTTC |
GTTC |
3: 86,648,765 (GRCm39) |
|
probably null |
Het |
| Lrch3 |
T |
A |
16: 32,814,149 (GRCm39) |
D551E |
probably benign |
Het |
| Manba |
A |
T |
3: 135,273,274 (GRCm39) |
N736I |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,451,812 (GRCm39) |
D234G |
possibly damaging |
Het |
| Mdk |
C |
A |
2: 91,761,197 (GRCm39) |
K121N |
unknown |
Het |
| Mfn1 |
T |
A |
3: 32,618,369 (GRCm39) |
L526Q |
probably damaging |
Het |
| Mfsd2b |
A |
G |
12: 4,916,157 (GRCm39) |
|
probably null |
Het |
| Mnat1 |
G |
T |
12: 73,277,452 (GRCm39) |
E233* |
probably null |
Het |
| Mtmr4 |
T |
C |
11: 87,495,431 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
A |
G |
14: 79,660,904 (GRCm39) |
E432G |
possibly damaging |
Het |
| Muc5b |
C |
T |
7: 141,396,382 (GRCm39) |
R165C |
unknown |
Het |
| Naip6 |
T |
A |
13: 100,452,657 (GRCm39) |
I135F |
probably benign |
Het |
| Nod2 |
A |
G |
8: 89,390,460 (GRCm39) |
T256A |
probably benign |
Het |
| Notch4 |
T |
A |
17: 34,802,473 (GRCm39) |
V1298E |
probably damaging |
Het |
| Nudc |
G |
T |
4: 133,261,776 (GRCm39) |
D169E |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,925,927 (GRCm39) |
I5602N |
probably damaging |
Het |
| Or5b114-ps1 |
G |
A |
19: 13,353,208 (GRCm39) |
G294E |
unknown |
Het |
| Osbpl10 |
G |
A |
9: 114,896,319 (GRCm39) |
D18N |
probably damaging |
Het |
| Pigk |
G |
A |
3: 152,428,188 (GRCm39) |
V72I |
possibly damaging |
Het |
| Prl8a6 |
C |
T |
13: 27,621,153 (GRCm39) |
E26K |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,553 (GRCm39) |
Y318C |
possibly damaging |
Het |
| Rab13 |
A |
G |
3: 90,132,070 (GRCm39) |
D159G |
possibly damaging |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Ryr2 |
T |
C |
13: 11,774,643 (GRCm39) |
H1171R |
probably benign |
Het |
| Scn4a |
T |
A |
11: 106,221,134 (GRCm39) |
I842F |
probably benign |
Het |
| Scnm1 |
A |
T |
3: 95,041,165 (GRCm39) |
N14K |
possibly damaging |
Het |
| Serinc1 |
A |
T |
10: 57,400,457 (GRCm39) |
I137N |
probably benign |
Het |
| Slc30a3 |
T |
C |
5: 31,244,169 (GRCm39) |
Q371R |
probably benign |
Het |
| Slc30a3 |
A |
C |
5: 31,247,014 (GRCm39) |
M103R |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,857,565 (GRCm39) |
C589S |
probably damaging |
Het |
| Slco1b2 |
A |
G |
6: 141,602,656 (GRCm39) |
Y203C |
probably damaging |
Het |
| Spty2d1 |
A |
T |
7: 46,648,271 (GRCm39) |
D219E |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,043,991 (GRCm39) |
S3552T |
probably benign |
Het |
| Tmem62 |
A |
G |
2: 120,835,224 (GRCm39) |
I516M |
probably benign |
Het |
| Trim61 |
A |
T |
8: 65,466,266 (GRCm39) |
S332T |
probably damaging |
Het |
| Trmt10b |
A |
C |
4: 45,308,520 (GRCm39) |
T227P |
probably benign |
Het |
| Trpc3 |
T |
C |
3: 36,709,258 (GRCm39) |
Q406R |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,485,740 (GRCm39) |
Y2950F |
probably benign |
Het |
| Usp32 |
C |
T |
11: 84,930,996 (GRCm39) |
G478D |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,091,758 (GRCm39) |
L527P |
possibly damaging |
Het |
| Wdr73 |
A |
G |
7: 80,543,426 (GRCm39) |
V163A |
possibly damaging |
Het |
|
| Other mutations in Cacna1h |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00505:Cacna1h
|
APN |
17 |
25,600,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01412:Cacna1h
|
APN |
17 |
25,610,924 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL01625:Cacna1h
|
APN |
17 |
25,604,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01625:Cacna1h
|
APN |
17 |
25,602,459 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01684:Cacna1h
|
APN |
17 |
25,607,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01862:Cacna1h
|
APN |
17 |
25,602,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01877:Cacna1h
|
APN |
17 |
25,607,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02040:Cacna1h
|
APN |
17 |
25,616,585 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02190:Cacna1h
|
APN |
17 |
25,652,000 (GRCm39) |
missense |
probably benign |
|
|
IGL02686:Cacna1h
|
APN |
17 |
25,604,723 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02883:Cacna1h
|
APN |
17 |
25,599,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02945:Cacna1h
|
APN |
17 |
25,607,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03025:Cacna1h
|
APN |
17 |
25,651,868 (GRCm39) |
nonsense |
probably null |
|
|
IGL03095:Cacna1h
|
APN |
17 |
25,602,752 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03207:Cacna1h
|
APN |
17 |
25,610,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02991:Cacna1h
|
UTSW |
17 |
25,610,286 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL03097:Cacna1h
|
UTSW |
17 |
25,610,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Cacna1h
|
UTSW |
17 |
25,599,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Cacna1h
|
UTSW |
17 |
25,599,898 (GRCm39) |
unclassified |
probably benign |
|
|
R0361:Cacna1h
|
UTSW |
17 |
25,608,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0501:Cacna1h
|
UTSW |
17 |
25,607,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Cacna1h
|
UTSW |
17 |
25,600,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0588:Cacna1h
|
UTSW |
17 |
25,606,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0626:Cacna1h
|
UTSW |
17 |
25,612,520 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0811:Cacna1h
|
UTSW |
17 |
25,607,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Cacna1h
|
UTSW |
17 |
25,607,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0964:Cacna1h
|
UTSW |
17 |
25,597,749 (GRCm39) |
unclassified |
probably benign |
|
|
R1351:Cacna1h
|
UTSW |
17 |
25,610,925 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1457:Cacna1h
|
UTSW |
17 |
25,616,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Cacna1h
|
UTSW |
17 |
25,616,328 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1564:Cacna1h
|
UTSW |
17 |
25,596,835 (GRCm39) |
nonsense |
probably null |
|
|
R1611:Cacna1h
|
UTSW |
17 |
25,600,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1669:Cacna1h
|
UTSW |
17 |
25,602,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Cacna1h
|
UTSW |
17 |
25,611,050 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1858:Cacna1h
|
UTSW |
17 |
25,599,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1887:Cacna1h
|
UTSW |
17 |
25,595,861 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2039:Cacna1h
|
UTSW |
17 |
25,610,819 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2091:Cacna1h
|
UTSW |
17 |
25,651,850 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2133:Cacna1h
|
UTSW |
17 |
25,602,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2203:Cacna1h
|
UTSW |
17 |
25,599,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2205:Cacna1h
|
UTSW |
17 |
25,599,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Cacna1h
|
UTSW |
17 |
25,603,987 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2207:Cacna1h
|
UTSW |
17 |
25,603,987 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2224:Cacna1h
|
UTSW |
17 |
25,604,917 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2226:Cacna1h
|
UTSW |
17 |
25,604,917 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2261:Cacna1h
|
UTSW |
17 |
25,652,139 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2361:Cacna1h
|
UTSW |
17 |
25,602,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2917:Cacna1h
|
UTSW |
17 |
25,614,426 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3031:Cacna1h
|
UTSW |
17 |
25,652,108 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3856:Cacna1h
|
UTSW |
17 |
25,611,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4230:Cacna1h
|
UTSW |
17 |
25,606,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4408:Cacna1h
|
UTSW |
17 |
25,599,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4687:Cacna1h
|
UTSW |
17 |
25,612,884 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4887:Cacna1h
|
UTSW |
17 |
25,596,261 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4895:Cacna1h
|
UTSW |
17 |
25,608,396 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5067:Cacna1h
|
UTSW |
17 |
25,616,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5077:Cacna1h
|
UTSW |
17 |
25,594,224 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5148:Cacna1h
|
UTSW |
17 |
25,606,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5336:Cacna1h
|
UTSW |
17 |
25,611,205 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5450:Cacna1h
|
UTSW |
17 |
25,602,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5616:Cacna1h
|
UTSW |
17 |
25,596,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5738:Cacna1h
|
UTSW |
17 |
25,606,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5883:Cacna1h
|
UTSW |
17 |
25,595,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5954:Cacna1h
|
UTSW |
17 |
25,602,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5961:Cacna1h
|
UTSW |
17 |
25,596,246 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6110:Cacna1h
|
UTSW |
17 |
25,610,250 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6125:Cacna1h
|
UTSW |
17 |
25,604,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6189:Cacna1h
|
UTSW |
17 |
25,616,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6216:Cacna1h
|
UTSW |
17 |
25,597,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6259:Cacna1h
|
UTSW |
17 |
25,616,630 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6296:Cacna1h
|
UTSW |
17 |
25,602,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6394:Cacna1h
|
UTSW |
17 |
25,606,455 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6695:Cacna1h
|
UTSW |
17 |
25,612,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6746:Cacna1h
|
UTSW |
17 |
25,600,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6914:Cacna1h
|
UTSW |
17 |
25,604,013 (GRCm39) |
missense |
probably benign |
|
|
R6942:Cacna1h
|
UTSW |
17 |
25,604,013 (GRCm39) |
missense |
probably benign |
|
|
R6955:Cacna1h
|
UTSW |
17 |
25,607,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7041:Cacna1h
|
UTSW |
17 |
25,612,977 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7120:Cacna1h
|
UTSW |
17 |
25,610,481 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7125:Cacna1h
|
UTSW |
17 |
25,602,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7270:Cacna1h
|
UTSW |
17 |
25,603,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7274:Cacna1h
|
UTSW |
17 |
25,597,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7319:Cacna1h
|
UTSW |
17 |
25,608,435 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7406:Cacna1h
|
UTSW |
17 |
25,604,600 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7634:Cacna1h
|
UTSW |
17 |
25,611,083 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7684:Cacna1h
|
UTSW |
17 |
25,608,346 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7769:Cacna1h
|
UTSW |
17 |
25,604,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7856:Cacna1h
|
UTSW |
17 |
25,608,451 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7876:Cacna1h
|
UTSW |
17 |
25,594,225 (GRCm39) |
missense |
probably benign |
|
|
R7898:Cacna1h
|
UTSW |
17 |
25,611,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8038:Cacna1h
|
UTSW |
17 |
25,594,865 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8042:Cacna1h
|
UTSW |
17 |
25,611,445 (GRCm39) |
nonsense |
probably null |
|
|
R8139:Cacna1h
|
UTSW |
17 |
25,602,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8391:Cacna1h
|
UTSW |
17 |
25,596,204 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8795:Cacna1h
|
UTSW |
17 |
25,612,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9227:Cacna1h
|
UTSW |
17 |
25,599,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9230:Cacna1h
|
UTSW |
17 |
25,599,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9236:Cacna1h
|
UTSW |
17 |
25,600,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9360:Cacna1h
|
UTSW |
17 |
25,594,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9476:Cacna1h
|
UTSW |
17 |
25,611,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9567:Cacna1h
|
UTSW |
17 |
25,612,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9696:Cacna1h
|
UTSW |
17 |
25,602,215 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
V1662:Cacna1h
|
UTSW |
17 |
25,596,283 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Z1176:Cacna1h
|
UTSW |
17 |
25,610,224 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Cacna1h
|
UTSW |
17 |
25,612,558 (GRCm39) |
missense |
probably benign |
0.15 |
|
Z1177:Cacna1h
|
UTSW |
17 |
25,610,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Cacna1h
|
UTSW |
17 |
25,594,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTGGCTTTCCTATGGTG -3'
(R):5'- CAGCGAGGATAATCCCTGTG -3'
Sequencing Primer
(F):5'- AGAAGCCTCACCTGTGCTGTG -3'
(R):5'- TGTGAGGGCCTGAGCAGAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation