Incidental Mutation 'R2207:Cacna1h'
| ID |
239188 |
| 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 |
040209-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2207 (G1)
|
| Quality Score |
165 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25593259-25652757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25603987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1282
(S1282T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078496]
[ENSMUST00000159048]
[ENSMUST00000159610]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078496
AA Change: S1282T
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: S1282T
| 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: S1176T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: S1176T
| 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 benign
Transcript: ENSMUST00000159610
AA Change: S1282T
PolyPhen 2
Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: S1282T
| 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: ENSMUST00000161035
|
| SMART Domains |
Protein: ENSMUSP00000123906
Gene: ENSMUSG00000024112
| 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 |
noncoding transcript
Transcript: ENSMUST00000162820
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
|
| 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: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
A |
G |
17: 37,288,965 (GRCm39) |
|
probably benign |
Het |
| Abcb1b |
C |
T |
5: 8,874,803 (GRCm39) |
R488C |
probably benign |
Het |
| Adam34 |
T |
C |
8: 44,105,274 (GRCm39) |
I124V |
probably benign |
Het |
| Aicda |
T |
A |
6: 122,538,244 (GRCm39) |
V134D |
possibly damaging |
Het |
| Akt2 |
T |
A |
7: 27,336,625 (GRCm39) |
|
probably null |
Het |
| Aldh1a3 |
T |
C |
7: 66,055,769 (GRCm39) |
R341G |
probably damaging |
Het |
| Ankrd12 |
G |
T |
17: 66,338,569 (GRCm39) |
|
probably null |
Het |
| Anxa11 |
A |
G |
14: 25,874,721 (GRCm39) |
Y244C |
probably damaging |
Het |
| Atp2c2 |
G |
A |
8: 120,475,048 (GRCm39) |
R551Q |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bcl11a |
G |
T |
11: 24,113,343 (GRCm39) |
G229W |
probably damaging |
Het |
| Brip1 |
A |
G |
11: 85,952,703 (GRCm39) |
V1026A |
probably benign |
Het |
| Calcr |
T |
C |
6: 3,717,133 (GRCm39) |
Y109C |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,890,882 (GRCm39) |
I241V |
probably damaging |
Het |
| Ccdc9 |
A |
G |
7: 16,018,194 (GRCm39) |
|
probably benign |
Het |
| Cdk17 |
G |
A |
10: 93,064,624 (GRCm39) |
D298N |
probably damaging |
Het |
| Cdkl3 |
A |
G |
11: 51,918,020 (GRCm39) |
*354W |
probably null |
Het |
| Celf6 |
A |
T |
9: 59,511,610 (GRCm39) |
Y401F |
possibly damaging |
Het |
| Clec4a4 |
C |
T |
6: 122,990,766 (GRCm39) |
L169F |
probably damaging |
Het |
| Col14a1 |
T |
C |
15: 55,327,082 (GRCm39) |
F1411L |
unknown |
Het |
| Col4a2 |
G |
T |
8: 11,493,352 (GRCm39) |
G1354W |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Cst13 |
A |
T |
2: 148,665,202 (GRCm39) |
R66W |
probably damaging |
Het |
| Depp1 |
G |
A |
6: 116,628,683 (GRCm39) |
V9M |
possibly damaging |
Het |
| Dhx8 |
A |
G |
11: 101,641,797 (GRCm39) |
T632A |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,869,906 (GRCm39) |
F838S |
possibly damaging |
Het |
| Dlg1 |
A |
G |
16: 31,672,664 (GRCm39) |
H599R |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,503,744 (GRCm39) |
V1654E |
probably damaging |
Het |
| Dnah5 |
C |
T |
15: 28,343,817 (GRCm39) |
L2406F |
probably benign |
Het |
| Fam98b |
C |
G |
2: 117,098,300 (GRCm39) |
R257G |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,214,471 (GRCm39) |
C900* |
probably null |
Het |
| Fgf1 |
A |
G |
18: 38,980,138 (GRCm39) |
Y79H |
possibly damaging |
Het |
| Foxn1 |
C |
A |
11: 78,249,630 (GRCm39) |
A632S |
probably benign |
Het |
| Fsip2 |
T |
G |
2: 82,807,823 (GRCm39) |
S1381A |
probably benign |
Het |
| Gtf2b |
G |
A |
3: 142,484,081 (GRCm39) |
G85D |
probably benign |
Het |
| Gyg1 |
C |
A |
3: 20,204,703 (GRCm39) |
G161C |
probably damaging |
Het |
| Hemgn |
G |
T |
4: 46,396,301 (GRCm39) |
L312I |
possibly damaging |
Het |
| Hic2 |
T |
C |
16: 17,075,324 (GRCm39) |
M51T |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hpx |
C |
T |
7: 105,241,633 (GRCm39) |
R287H |
probably damaging |
Het |
| Igf2bp3 |
C |
T |
6: 49,065,488 (GRCm39) |
G468E |
possibly damaging |
Het |
| Il5ra |
C |
A |
6: 106,689,402 (GRCm39) |
E397* |
probably null |
Het |
| Itfg1 |
A |
T |
8: 86,502,827 (GRCm39) |
S246R |
probably benign |
Het |
| Kdm2a |
A |
T |
19: 4,412,898 (GRCm39) |
D29E |
probably damaging |
Het |
| Lamc2 |
T |
G |
1: 153,009,452 (GRCm39) |
E784D |
possibly damaging |
Het |
| Lrp2 |
A |
T |
2: 69,297,372 (GRCm39) |
N3196K |
possibly damaging |
Het |
| Lyzl1 |
T |
A |
18: 4,181,962 (GRCm39) |
C96* |
probably null |
Het |
| Maf1 |
A |
G |
15: 76,236,718 (GRCm39) |
T17A |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,567,591 (GRCm39) |
D1710G |
unknown |
Het |
| Megf8 |
C |
T |
7: 25,049,222 (GRCm39) |
T1773I |
probably damaging |
Het |
| Mei1 |
T |
C |
15: 81,987,450 (GRCm39) |
M414T |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,396,860 (GRCm39) |
N2643S |
probably benign |
Het |
| Ndufa9 |
A |
G |
6: 126,821,772 (GRCm39) |
Y64H |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,101,579 (GRCm39) |
L4354* |
probably null |
Het |
| Nom1 |
T |
A |
5: 29,644,972 (GRCm39) |
I480N |
probably damaging |
Het |
| Nrxn3 |
C |
T |
12: 89,315,082 (GRCm39) |
T331M |
probably damaging |
Het |
| Or1a1 |
G |
T |
11: 74,087,150 (GRCm39) |
V274L |
possibly damaging |
Het |
| Or1j16 |
G |
T |
2: 36,530,201 (GRCm39) |
R50M |
possibly damaging |
Het |
| Or4f14b |
A |
C |
2: 111,775,270 (GRCm39) |
F177C |
probably damaging |
Het |
| Or51a42 |
A |
G |
7: 103,708,612 (GRCm39) |
S66P |
probably damaging |
Het |
| Pcdhb15 |
A |
T |
18: 37,608,075 (GRCm39) |
T436S |
probably benign |
Het |
| Pcdhb18 |
T |
A |
18: 37,624,342 (GRCm39) |
N557K |
probably damaging |
Het |
| Pcdhb6 |
T |
C |
18: 37,468,633 (GRCm39) |
M518T |
probably benign |
Het |
| Pgm2l1 |
T |
A |
7: 99,917,319 (GRCm39) |
|
probably null |
Het |
| Pih1d2 |
C |
A |
9: 50,532,379 (GRCm39) |
H162N |
probably benign |
Het |
| Pitrm1 |
T |
A |
13: 6,619,327 (GRCm39) |
Y721N |
probably damaging |
Het |
| Pla2r1 |
C |
A |
2: 60,288,779 (GRCm39) |
V618F |
probably damaging |
Het |
| Plb1 |
T |
C |
5: 32,473,984 (GRCm39) |
S599P |
possibly damaging |
Het |
| Prkg1 |
T |
C |
19: 30,556,260 (GRCm39) |
D562G |
probably damaging |
Het |
| Proser1 |
T |
G |
3: 53,385,812 (GRCm39) |
S565A |
probably benign |
Het |
| Prx |
T |
A |
7: 27,216,213 (GRCm39) |
V238E |
probably damaging |
Het |
| Psapl1 |
T |
C |
5: 36,362,509 (GRCm39) |
I367T |
probably damaging |
Het |
| Rc3h1 |
T |
C |
1: 160,767,595 (GRCm39) |
V128A |
probably damaging |
Het |
| Rrm1 |
T |
A |
7: 102,091,233 (GRCm39) |
M1K |
probably null |
Het |
| Rsf1 |
GCG |
GCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Rsl1 |
A |
G |
13: 67,330,892 (GRCm39) |
T447A |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,825,823 (GRCm39) |
S552P |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,190,896 (GRCm39) |
S225P |
possibly damaging |
Het |
| Serpina3c |
T |
A |
12: 104,117,757 (GRCm39) |
I194F |
probably benign |
Het |
| Setd3 |
C |
T |
12: 108,073,544 (GRCm39) |
V578M |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc6a1 |
T |
A |
6: 114,285,632 (GRCm39) |
V356E |
probably damaging |
Het |
| Slfn1 |
A |
G |
11: 83,011,992 (GRCm39) |
E36G |
possibly damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,218,655 (GRCm39) |
H609R |
possibly damaging |
Het |
| Spag16 |
A |
G |
1: 70,764,043 (GRCm39) |
H621R |
probably benign |
Het |
| Spata31d1e |
A |
G |
13: 59,890,920 (GRCm39) |
V300A |
probably benign |
Het |
| Tg |
G |
A |
15: 66,553,788 (GRCm39) |
G401D |
probably benign |
Het |
| Tnxb |
A |
C |
17: 34,928,391 (GRCm39) |
T2602P |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,839,701 (GRCm39) |
N1643S |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,709,687 (GRCm39) |
R1581* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,796,155 (GRCm39) |
I590K |
probably benign |
Het |
| Vmn1r225 |
A |
G |
17: 20,722,611 (GRCm39) |
I17M |
possibly damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,910,678 (GRCm39) |
V690E |
possibly damaging |
Het |
| Xaf1 |
A |
T |
11: 72,194,228 (GRCm39) |
E36D |
possibly damaging |
Het |
| Zfp131 |
A |
T |
13: 120,237,348 (GRCm39) |
F303I |
probably damaging |
Het |
| Zfp513 |
T |
G |
5: 31,357,767 (GRCm39) |
K202T |
probably damaging |
Het |
| Zfp788 |
A |
T |
7: 41,299,064 (GRCm39) |
I567F |
probably damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,292,861 (GRCm39) |
V2096A |
probably 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 |
|
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 |
|
R7182:Cacna1h
|
UTSW |
17 |
25,596,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AACATCTTGTGTGCGATGACTTTC -3'
(R):5'- GCAACAAAGACTGGCCTGAG -3'
Sequencing Primer
(F):5'- CGATGACTTTCTGGCAGGAGAC -3'
(R):5'- AGACTGGCCTGAGGTGGG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation