Incidental Mutation 'R6259:Cacna1h'
| ID |
506582 |
| 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 |
044376-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6259 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
25593259-25652757 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 25616630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078496]
[ENSMUST00000159048]
[ENSMUST00000159610]
[ENSMUST00000159623]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000078496
|
| SMART Domains |
Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
| 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 null
Transcript: ENSMUST00000159048
|
| SMART Domains |
Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
| 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 null
Transcript: ENSMUST00000159610
|
| SMART Domains |
Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
| 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 null
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
|
| Meta Mutation Damage Score |
0.9476 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
99% (74/75) |
| 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 |
|---|
| 5730507C01Rik |
C |
A |
12: 18,584,120 (GRCm39) |
N393K |
probably benign |
Het |
| Acap3 |
A |
T |
4: 155,980,575 (GRCm39) |
I19F |
possibly damaging |
Het |
| Acsbg3 |
A |
G |
17: 57,184,513 (GRCm39) |
Y96C |
probably benign |
Het |
| Adamts5 |
C |
T |
16: 85,696,641 (GRCm39) |
R172H |
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,156,483 (GRCm39) |
F416L |
possibly damaging |
Het |
| Amy1 |
T |
C |
3: 113,363,059 (GRCm39) |
D96G |
possibly damaging |
Het |
| Ank2 |
A |
G |
3: 126,810,635 (GRCm39) |
S484P |
probably benign |
Het |
| Arsa |
A |
G |
15: 89,359,724 (GRCm39) |
C68R |
probably damaging |
Het |
| Asprv1 |
A |
G |
6: 86,605,361 (GRCm39) |
Y69C |
probably benign |
Het |
| Ass1 |
A |
G |
2: 31,378,654 (GRCm39) |
E162G |
possibly damaging |
Het |
| Atf7 |
G |
T |
15: 102,455,673 (GRCm39) |
N230K |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,092,065 (GRCm39) |
M367V |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,861,050 (GRCm39) |
Y179C |
probably damaging |
Het |
| BC004004 |
A |
T |
17: 29,517,686 (GRCm39) |
Q300L |
possibly damaging |
Het |
| Bglap3 |
A |
T |
3: 88,276,067 (GRCm39) |
I95N |
probably damaging |
Het |
| Caskin2 |
C |
T |
11: 115,691,279 (GRCm39) |
G1141D |
probably damaging |
Het |
| Clcn4 |
G |
A |
7: 7,294,529 (GRCm39) |
R351W |
possibly damaging |
Het |
| Col11a1 |
T |
C |
3: 113,932,096 (GRCm39) |
C89R |
probably benign |
Het |
| Csrp1 |
T |
G |
1: 135,667,252 (GRCm39) |
|
probably null |
Het |
| Cwf19l2 |
T |
C |
9: 3,458,879 (GRCm39) |
I776T |
probably damaging |
Het |
| Cyp2b19 |
A |
T |
7: 26,470,817 (GRCm39) |
Q486L |
possibly damaging |
Het |
| Cyp2j9 |
T |
A |
4: 96,472,243 (GRCm39) |
Y165F |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dennd1c |
G |
A |
17: 57,374,104 (GRCm39) |
R522C |
probably damaging |
Het |
| Dmgdh |
T |
C |
13: 93,888,816 (GRCm39) |
V818A |
probably benign |
Het |
| Dst |
T |
A |
1: 34,221,477 (GRCm39) |
V2427E |
probably benign |
Het |
| Duox1 |
C |
T |
2: 122,175,264 (GRCm39) |
T1354M |
probably benign |
Het |
| Ehbp1 |
A |
G |
11: 22,235,684 (GRCm39) |
|
probably benign |
Het |
| Epc2 |
T |
A |
2: 49,378,866 (GRCm39) |
|
probably null |
Het |
| Eya2 |
T |
C |
2: 165,558,019 (GRCm39) |
V205A |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,061,395 (GRCm39) |
H4326R |
probably benign |
Het |
| Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
| Gm10100 |
G |
T |
10: 77,562,498 (GRCm39) |
C60F |
possibly damaging |
Het |
| Hhip |
T |
A |
8: 80,699,033 (GRCm39) |
R678W |
probably damaging |
Het |
| Il21r |
T |
A |
7: 125,229,891 (GRCm39) |
I266K |
possibly damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,744,970 (GRCm39) |
S1689P |
probably damaging |
Het |
| L3mbtl2 |
A |
G |
15: 81,566,128 (GRCm39) |
E317G |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lratd1 |
T |
A |
12: 14,200,646 (GRCm39) |
D27V |
probably damaging |
Het |
| Lrr1 |
A |
G |
12: 69,221,589 (GRCm39) |
N244D |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,586,450 (GRCm39) |
H422L |
probably benign |
Het |
| Map4k5 |
A |
G |
12: 69,899,514 (GRCm39) |
S46P |
probably damaging |
Het |
| Ngf |
A |
G |
3: 102,417,113 (GRCm39) |
|
probably benign |
Het |
| Nploc4 |
T |
C |
11: 120,276,691 (GRCm39) |
I452V |
probably benign |
Het |
| Oas1d |
T |
A |
5: 121,057,244 (GRCm39) |
Y283* |
probably null |
Het |
| Or52h1 |
A |
T |
7: 103,829,261 (GRCm39) |
M118K |
possibly damaging |
Het |
| Or56b35 |
A |
T |
7: 104,963,264 (GRCm39) |
I18F |
probably benign |
Het |
| Or5b109 |
A |
G |
19: 13,211,785 (GRCm39) |
H57R |
probably damaging |
Het |
| Or5l13 |
T |
C |
2: 87,779,779 (GRCm39) |
N266S |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,655,562 (GRCm39) |
E485V |
probably damaging |
Het |
| Peg3 |
A |
G |
7: 6,712,810 (GRCm39) |
V804A |
probably damaging |
Het |
| Piezo2 |
T |
A |
18: 63,250,749 (GRCm39) |
Y450F |
possibly damaging |
Het |
| Pprc1 |
T |
A |
19: 46,052,849 (GRCm39) |
V789E |
probably damaging |
Het |
| Prcc |
A |
G |
3: 87,769,454 (GRCm39) |
M436T |
possibly damaging |
Het |
| Prepl |
A |
T |
17: 85,377,859 (GRCm39) |
V507D |
probably damaging |
Het |
| Rag1 |
T |
A |
2: 101,474,797 (GRCm39) |
N115I |
possibly damaging |
Het |
| Rap1gap |
T |
C |
4: 137,409,068 (GRCm39) |
|
probably null |
Het |
| Reln |
A |
C |
5: 22,265,331 (GRCm39) |
F454V |
probably damaging |
Het |
| Slc39a11 |
A |
T |
11: 113,354,780 (GRCm39) |
S150T |
probably benign |
Het |
| Slc45a1 |
T |
A |
4: 150,722,817 (GRCm39) |
I356F |
possibly damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,060,343 (GRCm39) |
G529D |
possibly damaging |
Het |
| Stkld1 |
A |
T |
2: 26,839,393 (GRCm39) |
D353V |
possibly damaging |
Het |
| Susd2 |
T |
C |
10: 75,473,880 (GRCm39) |
S572G |
probably damaging |
Het |
| Synrg |
T |
A |
11: 83,899,484 (GRCm39) |
D563E |
probably damaging |
Het |
| Tmem131 |
C |
T |
1: 36,858,209 (GRCm39) |
V713I |
probably benign |
Het |
| Tnfrsf8 |
A |
G |
4: 145,004,094 (GRCm39) |
|
probably null |
Het |
| Trim26 |
C |
T |
17: 37,167,110 (GRCm39) |
A267V |
probably benign |
Het |
| Trpm1 |
T |
G |
7: 63,918,226 (GRCm39) |
F522C |
possibly damaging |
Het |
| Uggt1 |
T |
C |
1: 36,273,997 (GRCm39) |
I29V |
probably benign |
Het |
| Unc5d |
C |
T |
8: 29,156,820 (GRCm39) |
M808I |
probably benign |
Het |
| Vmn2r108 |
T |
A |
17: 20,683,371 (GRCm39) |
D611V |
possibly damaging |
Het |
| Vps13a |
A |
C |
19: 16,664,534 (GRCm39) |
Y1436* |
probably null |
Het |
| Wdfy3 |
C |
T |
5: 102,020,831 (GRCm39) |
R2491Q |
possibly damaging |
Het |
| Zfp518a |
G |
T |
19: 40,901,225 (GRCm39) |
V385F |
probably benign |
Het |
| Zfp541 |
C |
T |
7: 15,829,451 (GRCm39) |
A1222V |
probably benign |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
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 |
|
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'- AGGGCCATCAACATATGCACTC -3'
(R):5'- CACATTAGCATGCTGGTCATCATG -3'
Sequencing Primer
(F):5'- TATGCACTCTGTCAAACCTGAG -3'
(R):5'- ATGCTGGTCATCATGCTGAAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation