Incidental Mutation 'R1457:Cacna1h'
| ID |
158613 |
| 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 |
039512-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1457 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25593259-25652757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25616594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 149
(V149E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078496]
[ENSMUST00000159048]
[ENSMUST00000159610]
[ENSMUST00000159623]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078496
AA Change: V149E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: V149E
| 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 damaging
Transcript: ENSMUST00000159048
AA Change: V43E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: V43E
| 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: V149E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: V149E
| 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: ENSMUST00000159623
|
| SMART Domains |
Protein: ENSMUSP00000125664
Gene: ENSMUSG00000024112
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161454
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.7%
- 20x: 87.3%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,888,683 (GRCm39) |
I1210F |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,433,705 (GRCm39) |
H688R |
possibly damaging |
Het |
| Arhgap24 |
T |
A |
5: 102,811,972 (GRCm39) |
N66K |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,497,782 (GRCm39) |
G335D |
probably damaging |
Het |
| Cacna1g |
C |
T |
11: 94,350,381 (GRCm39) |
R488H |
possibly damaging |
Het |
| Cd22 |
G |
T |
7: 30,572,595 (GRCm39) |
P338Q |
probably benign |
Het |
| Cntln |
G |
T |
4: 85,015,076 (GRCm39) |
M1122I |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,012,768 (GRCm39) |
N302S |
probably benign |
Het |
| Cog8 |
T |
C |
8: 107,779,528 (GRCm39) |
R250G |
probably damaging |
Het |
| Cracdl |
A |
T |
1: 37,665,093 (GRCm39) |
Y268* |
probably null |
Het |
| Creld2 |
T |
C |
15: 88,707,956 (GRCm39) |
C232R |
probably damaging |
Het |
| Cyp2b23 |
G |
A |
7: 26,372,574 (GRCm39) |
P347L |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,403,688 (GRCm39) |
|
probably null |
Het |
| Eml6 |
C |
T |
11: 29,974,459 (GRCm39) |
V40I |
probably damaging |
Het |
| Epb42 |
C |
T |
2: 120,860,448 (GRCm39) |
|
probably null |
Het |
| Fcrla |
A |
G |
1: 170,748,573 (GRCm39) |
L190P |
probably damaging |
Het |
| Galnt18 |
A |
T |
7: 111,378,635 (GRCm39) |
Y40* |
probably null |
Het |
| Gdf7 |
A |
T |
12: 8,348,073 (GRCm39) |
M416K |
probably damaging |
Het |
| Gm11232 |
T |
A |
4: 71,675,156 (GRCm39) |
|
probably null |
Het |
| Gpam |
T |
A |
19: 55,076,608 (GRCm39) |
N198Y |
probably damaging |
Het |
| Grip1 |
C |
T |
10: 119,822,255 (GRCm39) |
S327F |
possibly damaging |
Het |
| Hey2 |
C |
T |
10: 30,710,352 (GRCm39) |
A134T |
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,428,668 (GRCm39) |
I1341T |
probably benign |
Het |
| Kcnd3 |
T |
C |
3: 105,575,502 (GRCm39) |
L542P |
probably benign |
Het |
| Lars1 |
G |
A |
18: 42,343,115 (GRCm39) |
R1101C |
probably damaging |
Het |
| Lman2 |
T |
C |
13: 55,499,064 (GRCm39) |
D234G |
probably benign |
Het |
| Map3k19 |
A |
C |
1: 127,745,635 (GRCm39) |
I1273R |
probably damaging |
Het |
| Matn1 |
T |
A |
4: 130,677,330 (GRCm39) |
F180I |
possibly damaging |
Het |
| Meikin |
T |
A |
11: 54,261,767 (GRCm39) |
L61* |
probably null |
Het |
| Mroh2b |
G |
T |
15: 4,955,166 (GRCm39) |
D720Y |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,221,872 (GRCm39) |
I199T |
probably damaging |
Het |
| Myh4 |
T |
A |
11: 67,139,287 (GRCm39) |
S535T |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,120,347 (GRCm39) |
M1715T |
probably damaging |
Het |
| Nat8 |
A |
T |
6: 85,807,971 (GRCm39) |
V54D |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,992,748 (GRCm39) |
V286A |
probably damaging |
Het |
| Ndnf |
A |
G |
6: 65,680,998 (GRCm39) |
K426E |
possibly damaging |
Het |
| Nup210l |
T |
A |
3: 90,098,279 (GRCm39) |
N1410K |
possibly damaging |
Het |
| Oca2 |
A |
T |
7: 55,971,269 (GRCm39) |
T399S |
probably damaging |
Het |
| Or10al2 |
A |
T |
17: 37,983,816 (GRCm39) |
K301* |
probably null |
Het |
| Or1af1 |
A |
C |
2: 37,109,671 (GRCm39) |
T57P |
possibly damaging |
Het |
| Or51a43 |
A |
T |
7: 103,717,666 (GRCm39) |
C191S |
probably damaging |
Het |
| Or52h7 |
T |
A |
7: 104,214,278 (GRCm39) |
N283K |
probably damaging |
Het |
| Or8c10 |
G |
A |
9: 38,279,492 (GRCm39) |
V217I |
probably benign |
Het |
| Or8j3 |
A |
G |
2: 86,028,596 (GRCm39) |
S167P |
probably damaging |
Het |
| Otogl |
A |
C |
10: 107,714,013 (GRCm39) |
|
probably null |
Het |
| Pde4b |
C |
T |
4: 102,462,373 (GRCm39) |
T511I |
probably damaging |
Het |
| Proser3 |
A |
G |
7: 30,239,172 (GRCm39) |
|
probably null |
Het |
| Psmd12 |
G |
A |
11: 107,370,472 (GRCm39) |
V24M |
probably damaging |
Het |
| Rbm17 |
A |
T |
2: 11,598,272 (GRCm39) |
M170K |
probably benign |
Het |
| Rims2 |
C |
T |
15: 39,374,710 (GRCm39) |
T1064I |
possibly damaging |
Het |
| Ripor3 |
C |
T |
2: 167,834,573 (GRCm39) |
V281M |
probably damaging |
Het |
| Rreb1 |
C |
A |
13: 38,130,904 (GRCm39) |
Q1353K |
possibly damaging |
Het |
| Sgo2a |
A |
G |
1: 58,054,965 (GRCm39) |
D383G |
probably benign |
Het |
| Sik3 |
C |
T |
9: 46,132,446 (GRCm39) |
T1346M |
probably damaging |
Het |
| Slx1b |
A |
T |
7: 126,291,968 (GRCm39) |
V63E |
probably damaging |
Het |
| Son |
A |
G |
16: 91,453,974 (GRCm39) |
D907G |
probably damaging |
Het |
| Src |
G |
A |
2: 157,311,132 (GRCm39) |
V401M |
probably damaging |
Het |
| St3gal4 |
T |
C |
9: 34,966,053 (GRCm39) |
K24E |
possibly damaging |
Het |
| Stat6 |
A |
G |
10: 127,494,114 (GRCm39) |
K647R |
probably damaging |
Het |
| Tbl1xr1 |
G |
A |
3: 22,247,333 (GRCm39) |
|
probably null |
Het |
| Tlk2 |
G |
A |
11: 105,147,778 (GRCm39) |
|
probably null |
Het |
| Tmbim6 |
T |
A |
15: 99,299,496 (GRCm39) |
I3K |
probably benign |
Het |
| Tmeff2 |
A |
T |
1: 51,221,026 (GRCm39) |
I334F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,670,659 (GRCm39) |
|
probably null |
Het |
| Ubl7 |
T |
A |
9: 57,821,894 (GRCm39) |
I81N |
probably damaging |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,433 (GRCm39) |
Y77C |
probably damaging |
Het |
| Uqcrfs1 |
A |
G |
13: 30,724,890 (GRCm39) |
C217R |
probably damaging |
Het |
| Usp50 |
T |
C |
2: 126,603,554 (GRCm39) |
T331A |
probably benign |
Het |
| Vmn1r65 |
A |
G |
7: 6,012,156 (GRCm39) |
V26A |
probably benign |
Het |
| Wdfy3 |
A |
C |
5: 102,065,445 (GRCm39) |
V1241G |
possibly damaging |
Het |
| Wtap |
A |
C |
17: 13,200,631 (GRCm39) |
|
probably null |
Het |
| Zbtb40 |
C |
A |
4: 136,712,148 (GRCm39) |
A1187S |
possibly damaging |
Het |
| Zfp57 |
T |
C |
17: 37,316,990 (GRCm39) |
S20P |
probably damaging |
Het |
| Zfp592 |
A |
G |
7: 80,674,227 (GRCm39) |
D397G |
probably damaging |
Het |
| Zfp747 |
A |
T |
7: 126,973,676 (GRCm39) |
S165T |
probably benign |
Het |
| Zfp949 |
C |
T |
9: 88,451,891 (GRCm39) |
T487I |
probably damaging |
Het |
| Zscan4d |
A |
G |
7: 10,898,921 (GRCm39) |
C119R |
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 |
|
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 |
|
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'- TGCACTCTGTCAAACCTGAGCC -3'
(R):5'- TGTCTGCTGCACAGCCCTTAAC -3'
Sequencing Primer
(F):5'- GAGCCTCTCTCAGGTCTCAG -3'
(R):5'- ATCATGCTGAACTGCGTGAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation