Incidental Mutation 'R0626:Cacna1h'
| ID |
57555 |
| 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 |
038815-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0626 (G1)
|
| Quality Score |
205 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
25593259-25652757 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25612520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 287
(F287L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123741
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078496]
[ENSMUST00000159048]
[ENSMUST00000159610]
[ENSMUST00000159623]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078496
AA Change: F393L
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: F393L
| 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 |
possibly damaging
Transcript: ENSMUST00000159048
AA Change: F287L
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: F287L
| 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: F393L
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: F393L
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162820
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.2%
|
| 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: 108 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,679,547 (GRCm39) |
|
probably benign |
Het |
| 6430571L13Rik |
T |
A |
9: 107,219,707 (GRCm39) |
D53E |
possibly damaging |
Het |
| A2ml1 |
T |
A |
6: 128,527,736 (GRCm39) |
N1018I |
probably damaging |
Het |
| Abi3 |
C |
A |
11: 95,727,937 (GRCm39) |
A85S |
probably benign |
Het |
| Acsl5 |
A |
T |
19: 55,272,904 (GRCm39) |
M340L |
probably benign |
Het |
| Adam29 |
T |
A |
8: 56,324,612 (GRCm39) |
H614L |
probably benign |
Het |
| Adgrg6 |
A |
T |
10: 14,312,628 (GRCm39) |
S720T |
probably damaging |
Het |
| Adrb2 |
G |
T |
18: 62,312,441 (GRCm39) |
A128E |
probably damaging |
Het |
| Afap1l1 |
T |
C |
18: 61,872,291 (GRCm39) |
E510G |
probably benign |
Het |
| Angel1 |
A |
G |
12: 86,764,487 (GRCm39) |
|
probably null |
Het |
| Aox3 |
T |
G |
1: 58,211,458 (GRCm39) |
I1005S |
possibly damaging |
Het |
| Apc |
C |
A |
18: 34,451,507 (GRCm39) |
P2767Q |
probably damaging |
Het |
| Apob |
T |
G |
12: 8,066,193 (GRCm39) |
D4387E |
probably benign |
Het |
| Apobr |
T |
C |
7: 126,185,827 (GRCm39) |
V446A |
possibly damaging |
Het |
| Arhgap28 |
A |
T |
17: 68,203,108 (GRCm39) |
|
probably null |
Het |
| Aspm |
G |
T |
1: 139,419,339 (GRCm39) |
K3001N |
probably damaging |
Het |
| Asxl3 |
G |
T |
18: 22,655,937 (GRCm39) |
V1316F |
probably benign |
Het |
| Atp2a1 |
T |
A |
7: 126,046,162 (GRCm39) |
|
probably null |
Het |
| Bach1 |
A |
G |
16: 87,526,359 (GRCm39) |
D607G |
possibly damaging |
Het |
| Batf3 |
A |
G |
1: 190,832,935 (GRCm39) |
D27G |
probably damaging |
Het |
| Baz1a |
G |
T |
12: 55,022,055 (GRCm39) |
Q76K |
probably damaging |
Het |
| Bdnf |
G |
A |
2: 109,553,883 (GRCm39) |
V86M |
probably benign |
Het |
| Birc7 |
A |
G |
2: 180,573,098 (GRCm39) |
I172V |
probably benign |
Het |
| Bod1l |
A |
C |
5: 41,988,880 (GRCm39) |
V409G |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,364,563 (GRCm39) |
E337V |
probably damaging |
Het |
| Ces1e |
A |
G |
8: 93,950,671 (GRCm39) |
Y37H |
probably benign |
Het |
| Clasrp |
A |
T |
7: 19,318,418 (GRCm39) |
|
probably benign |
Het |
| Clec2d |
T |
A |
6: 129,160,090 (GRCm39) |
S35T |
probably damaging |
Het |
| Cntn4 |
T |
A |
6: 106,639,539 (GRCm39) |
D556E |
probably benign |
Het |
| Cntnap5c |
A |
T |
17: 58,349,422 (GRCm39) |
D245V |
probably benign |
Het |
| Col5a1 |
T |
A |
2: 27,818,255 (GRCm39) |
L160* |
probably null |
Het |
| Col6a6 |
T |
C |
9: 105,654,943 (GRCm39) |
E926G |
probably benign |
Het |
| Cpsf2 |
T |
A |
12: 101,951,490 (GRCm39) |
H142Q |
probably benign |
Het |
| Cr2 |
A |
C |
1: 194,853,419 (GRCm39) |
S20A |
possibly damaging |
Het |
| Ct45a |
G |
A |
X: 55,590,399 (GRCm39) |
P134L |
probably benign |
Het |
| Cyp2j5 |
A |
T |
4: 96,547,749 (GRCm39) |
H164Q |
probably benign |
Het |
| D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,703,811 (GRCm39) |
V1124M |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,323,838 (GRCm39) |
H1182R |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,368,509 (GRCm39) |
S1709T |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,560,844 (GRCm39) |
V776A |
probably damaging |
Het |
| Emc3 |
T |
C |
6: 113,492,992 (GRCm39) |
T220A |
probably benign |
Het |
| Entpd1 |
A |
C |
19: 40,715,769 (GRCm39) |
N312T |
probably benign |
Het |
| Fam8a1 |
A |
T |
13: 46,824,699 (GRCm39) |
I229F |
probably damaging |
Het |
| Fancc |
G |
A |
13: 63,465,205 (GRCm39) |
P501S |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,702,751 (GRCm39) |
R1704G |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,819,302 (GRCm39) |
I5012V |
probably benign |
Het |
| Glce |
T |
C |
9: 61,968,282 (GRCm39) |
T290A |
probably benign |
Het |
| Gns |
G |
A |
10: 121,219,349 (GRCm39) |
|
probably null |
Het |
| Gsdma2 |
A |
G |
11: 98,542,810 (GRCm39) |
N190S |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,415,887 (GRCm39) |
S563T |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,674,470 (GRCm39) |
|
probably null |
Het |
| Jup |
A |
T |
11: 100,267,589 (GRCm39) |
M578K |
probably benign |
Het |
| Kir3dl1 |
G |
A |
X: 135,434,594 (GRCm39) |
|
probably null |
Het |
| Krt75 |
A |
G |
15: 101,482,025 (GRCm39) |
F81S |
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,403,233 (GRCm39) |
D2113E |
probably damaging |
Het |
| Maged2 |
T |
A |
X: 149,594,830 (GRCm39) |
N176Y |
probably damaging |
Het |
| Mrc1 |
T |
A |
2: 14,333,382 (GRCm39) |
C1354* |
probably null |
Het |
| Mup7 |
A |
C |
4: 60,069,742 (GRCm39) |
V74G |
possibly damaging |
Het |
| Naca |
A |
G |
10: 127,877,031 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
T |
G |
10: 109,659,325 (GRCm39) |
Y764S |
probably damaging |
Het |
| Nkpd1 |
A |
T |
7: 19,257,099 (GRCm39) |
T293S |
probably benign |
Het |
| Numb |
A |
G |
12: 83,842,614 (GRCm39) |
Y510H |
probably damaging |
Het |
| Nynrin |
T |
G |
14: 56,105,492 (GRCm39) |
L834R |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or2ak5 |
G |
T |
11: 58,611,347 (GRCm39) |
H176N |
probably benign |
Het |
| Or8g18 |
T |
A |
9: 39,149,162 (GRCm39) |
N186I |
possibly damaging |
Het |
| Otog |
T |
C |
7: 45,920,797 (GRCm39) |
V1000A |
possibly damaging |
Het |
| Pafah1b3 |
A |
G |
7: 24,996,554 (GRCm39) |
V43A |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,030,450 (GRCm39) |
Y1775C |
possibly damaging |
Het |
| Phka1 |
G |
A |
X: 101,564,437 (GRCm39) |
R1074C |
probably damaging |
Het |
| Pi4ka |
T |
A |
16: 17,111,765 (GRCm39) |
Y1570F |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,152,329 (GRCm39) |
K2588E |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,794,549 (GRCm39) |
T2079A |
probably damaging |
Het |
| Plekhd1 |
G |
T |
12: 80,764,075 (GRCm39) |
Q212H |
probably damaging |
Het |
| Plekhh1 |
C |
T |
12: 79,087,359 (GRCm39) |
R16* |
probably null |
Het |
| Polm |
C |
A |
11: 5,786,207 (GRCm39) |
R120L |
probably damaging |
Het |
| Ptpn22 |
T |
C |
3: 103,767,721 (GRCm39) |
M1T |
probably null |
Het |
| Ptprh |
G |
A |
7: 4,567,271 (GRCm39) |
L534F |
probably benign |
Het |
| Rabl6 |
C |
T |
2: 25,482,778 (GRCm39) |
|
probably null |
Het |
| Rap2a |
A |
G |
14: 120,716,403 (GRCm39) |
S89G |
probably damaging |
Het |
| Rara |
A |
T |
11: 98,862,406 (GRCm39) |
|
probably null |
Het |
| Reck |
A |
G |
4: 43,930,295 (GRCm39) |
D623G |
probably benign |
Het |
| Relt |
A |
T |
7: 100,498,023 (GRCm39) |
L237Q |
probably damaging |
Het |
| Rngtt |
A |
G |
4: 33,329,598 (GRCm39) |
|
probably null |
Het |
| Rtn4rl2 |
T |
G |
2: 84,710,763 (GRCm39) |
Y167S |
probably damaging |
Het |
| Sec24c |
C |
T |
14: 20,738,505 (GRCm39) |
R353C |
probably damaging |
Het |
| Slc35g2 |
T |
C |
9: 100,435,495 (GRCm39) |
S59G |
probably benign |
Het |
| Smarcd2 |
A |
T |
11: 106,158,241 (GRCm39) |
M107K |
probably benign |
Het |
| Smg1 |
T |
C |
7: 117,781,606 (GRCm39) |
N1227S |
possibly damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,063,734 (GRCm39) |
N638D |
possibly damaging |
Het |
| Sntb1 |
A |
G |
15: 55,506,179 (GRCm39) |
S465P |
probably benign |
Het |
| Sp4 |
A |
G |
12: 118,263,314 (GRCm39) |
L244P |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,887,716 (GRCm39) |
|
probably null |
Het |
| Tbc1d17 |
T |
C |
7: 44,492,509 (GRCm39) |
T385A |
probably benign |
Het |
| Tbx10 |
C |
A |
19: 4,047,873 (GRCm39) |
D206E |
probably benign |
Het |
| Tcea2 |
C |
T |
2: 181,329,431 (GRCm39) |
P275S |
probably damaging |
Het |
| Tns3 |
C |
A |
11: 8,443,121 (GRCm39) |
R414L |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,852,235 (GRCm39) |
R610G |
possibly damaging |
Het |
| Ugt2b1 |
T |
C |
5: 87,073,720 (GRCm39) |
K213R |
probably null |
Het |
| Unc80 |
A |
G |
1: 66,647,601 (GRCm39) |
S1514G |
probably benign |
Het |
| Usp7 |
G |
T |
16: 8,511,778 (GRCm39) |
Q867K |
possibly damaging |
Het |
| Vim |
T |
C |
2: 13,579,463 (GRCm39) |
V74A |
probably benign |
Het |
| Vmn1r234 |
A |
G |
17: 21,450,007 (GRCm39) |
Y307C |
probably benign |
Het |
| Vmn2r74 |
A |
T |
7: 85,610,517 (GRCm39) |
Y58* |
probably null |
Het |
| Wdr36 |
C |
A |
18: 32,983,584 (GRCm39) |
A445E |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,532,359 (GRCm39) |
W465R |
probably damaging |
Het |
| Zscan4d |
T |
A |
7: 10,898,946 (GRCm39) |
R110S |
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 |
|
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 |
|
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'- TTCCTTCAACCACAGGCTAGGCAG -3'
(R):5'- GATCGCCATCTTCCAGGTATGCTC -3'
Sequencing Primer
(F):5'- GGCTAGGCAGAAAAGCCCC -3'
(R):5'- TCCAGGTATGCTCTAGGATAGCC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation