Incidental Mutation 'R0558:Cacna1h'
ID |
45766 |
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 |
038750-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0558 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
25593259-25652757 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 25600524 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 1606
(A1606T)
|
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 damaging
Transcript: ENSMUST00000078496
AA Change: A1606T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000077586 Gene: ENSMUSG00000024112 AA Change: A1606T
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: A1500T
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000123741 Gene: ENSMUSG00000024112 AA Change: A1500T
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 |
noncoding transcript
Transcript: ENSMUST00000159331
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000159610
AA Change: A1606T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125541 Gene: ENSMUSG00000024112 AA Change: A1606T
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
|
Meta Mutation Damage Score |
0.1646 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
100% (80/80) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
G |
A |
19: 43,789,163 (GRCm39) |
G273R |
probably benign |
Het |
Adamts10 |
T |
C |
17: 33,769,583 (GRCm39) |
V935A |
probably benign |
Het |
Anapc15-ps |
T |
C |
10: 95,508,983 (GRCm39) |
D90G |
probably damaging |
Het |
Atic |
T |
A |
1: 71,602,947 (GRCm39) |
V107E |
probably benign |
Het |
Atp4b |
T |
C |
8: 13,443,523 (GRCm39) |
T52A |
possibly damaging |
Het |
Cacng6 |
T |
A |
7: 3,483,324 (GRCm39) |
Y217* |
probably null |
Het |
Cc2d2a |
T |
G |
5: 43,881,729 (GRCm39) |
|
probably benign |
Het |
Cd226 |
T |
A |
18: 89,225,338 (GRCm39) |
H78Q |
probably benign |
Het |
Cers3 |
A |
G |
7: 66,433,166 (GRCm39) |
D161G |
probably damaging |
Het |
Ces1f |
T |
C |
8: 94,002,017 (GRCm39) |
H37R |
probably benign |
Het |
Cfhr4 |
A |
G |
1: 139,667,230 (GRCm39) |
V376A |
probably damaging |
Het |
Chek1 |
T |
A |
9: 36,623,411 (GRCm39) |
N421I |
possibly damaging |
Het |
Cibar1 |
T |
C |
4: 12,164,095 (GRCm39) |
D248G |
probably damaging |
Het |
Cma2 |
T |
C |
14: 56,210,249 (GRCm39) |
Y45H |
probably damaging |
Het |
Cmas |
C |
A |
6: 142,720,970 (GRCm39) |
Y401* |
probably null |
Het |
Cyp2j8 |
A |
T |
4: 96,332,871 (GRCm39) |
S492T |
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,430,465 (GRCm39) |
S358P |
probably benign |
Het |
Dnajc13 |
T |
C |
9: 104,079,151 (GRCm39) |
|
probably null |
Het |
Ep400 |
A |
C |
5: 110,832,933 (GRCm39) |
|
probably benign |
Het |
Fam209 |
T |
A |
2: 172,314,758 (GRCm39) |
N82K |
probably benign |
Het |
G3bp2 |
A |
T |
5: 92,221,056 (GRCm39) |
Y20N |
probably damaging |
Het |
Gli2 |
T |
C |
1: 118,765,379 (GRCm39) |
D924G |
probably benign |
Het |
Gm10787 |
T |
C |
10: 76,857,850 (GRCm39) |
|
noncoding transcript |
Het |
Gm11568 |
A |
G |
11: 99,748,872 (GRCm39) |
R26G |
unknown |
Het |
Hivep3 |
T |
G |
4: 119,953,763 (GRCm39) |
L693R |
probably damaging |
Het |
Hook1 |
A |
G |
4: 95,881,449 (GRCm39) |
|
probably benign |
Het |
Ibtk |
A |
C |
9: 85,619,591 (GRCm39) |
D116E |
probably damaging |
Het |
Insrr |
C |
T |
3: 87,718,288 (GRCm39) |
T927I |
possibly damaging |
Het |
Irx1 |
T |
G |
13: 72,107,747 (GRCm39) |
S312R |
probably benign |
Het |
Itga11 |
T |
C |
9: 62,659,570 (GRCm39) |
Y441H |
probably benign |
Het |
Itsn1 |
A |
G |
16: 91,696,511 (GRCm39) |
D38G |
possibly damaging |
Het |
Kat6b |
G |
T |
14: 21,719,489 (GRCm39) |
E1280D |
probably benign |
Het |
Kcnk10 |
T |
A |
12: 98,402,560 (GRCm39) |
Y293F |
possibly damaging |
Het |
Krt74 |
T |
A |
15: 101,669,398 (GRCm39) |
|
noncoding transcript |
Het |
Lars1 |
T |
G |
18: 42,347,902 (GRCm39) |
I974L |
probably benign |
Het |
Limch1 |
A |
G |
5: 67,126,498 (GRCm39) |
D42G |
probably damaging |
Het |
Mau2 |
G |
C |
8: 70,495,082 (GRCm39) |
T85R |
probably damaging |
Het |
Mkrn3 |
A |
G |
7: 62,068,612 (GRCm39) |
I393T |
probably benign |
Het |
Mpl |
A |
C |
4: 118,301,217 (GRCm39) |
S541R |
probably damaging |
Het |
Nfrkb |
T |
C |
9: 31,321,564 (GRCm39) |
S754P |
possibly damaging |
Het |
Or4c125 |
A |
G |
2: 89,170,580 (GRCm39) |
L22P |
probably benign |
Het |
Or5bw2 |
T |
C |
7: 6,573,652 (GRCm39) |
Y221H |
possibly damaging |
Het |
Or5d41 |
A |
G |
2: 88,054,818 (GRCm39) |
V186A |
possibly damaging |
Het |
Or8g18 |
T |
A |
9: 39,149,496 (GRCm39) |
T75S |
probably damaging |
Het |
P2rx7 |
A |
T |
5: 122,811,861 (GRCm39) |
I391F |
possibly damaging |
Het |
Pbrm1 |
T |
A |
14: 30,807,016 (GRCm39) |
|
probably null |
Het |
Pcdh8 |
T |
C |
14: 80,007,516 (GRCm39) |
D349G |
probably damaging |
Het |
Pias1 |
A |
G |
9: 62,789,291 (GRCm39) |
S639P |
possibly damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,347,820 (GRCm39) |
I232F |
probably damaging |
Het |
Plxnc1 |
C |
T |
10: 94,673,797 (GRCm39) |
R995Q |
probably damaging |
Het |
Pnliprp2 |
T |
A |
19: 58,762,519 (GRCm39) |
S375T |
probably benign |
Het |
Prkar1b |
C |
T |
5: 139,005,847 (GRCm39) |
V313M |
probably benign |
Het |
Prr35 |
T |
C |
17: 26,166,523 (GRCm39) |
N338S |
probably benign |
Het |
Ptpn13 |
T |
C |
5: 103,677,583 (GRCm39) |
S734P |
probably damaging |
Het |
Rdh1 |
T |
C |
10: 127,595,810 (GRCm39) |
W2R |
possibly damaging |
Het |
Rsph10b |
A |
T |
5: 143,886,156 (GRCm39) |
I285L |
probably benign |
Het |
Rubcnl |
T |
C |
14: 75,284,987 (GRCm39) |
F502S |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,653,329 (GRCm39) |
I3693F |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,814,747 (GRCm39) |
Y675C |
probably damaging |
Het |
Scaper |
T |
C |
9: 55,593,207 (GRCm39) |
T477A |
probably benign |
Het |
Scn2a |
G |
T |
2: 65,542,269 (GRCm39) |
V791L |
probably benign |
Het |
Sdk1 |
A |
T |
5: 142,117,820 (GRCm39) |
T1573S |
probably damaging |
Het |
Sema3c |
A |
T |
5: 17,919,413 (GRCm39) |
H483L |
probably benign |
Het |
Sema6c |
T |
C |
3: 95,076,002 (GRCm39) |
S219P |
probably damaging |
Het |
Slc10a5 |
T |
G |
3: 10,400,177 (GRCm39) |
E161A |
probably damaging |
Het |
Slc22a23 |
C |
T |
13: 34,528,366 (GRCm39) |
G139S |
possibly damaging |
Het |
Slc34a3 |
C |
T |
2: 25,123,077 (GRCm39) |
|
probably benign |
Het |
Slc38a9 |
A |
T |
13: 112,865,730 (GRCm39) |
|
probably null |
Het |
Taok1 |
A |
C |
11: 77,450,670 (GRCm39) |
S367R |
possibly damaging |
Het |
Tlr6 |
G |
A |
5: 65,112,203 (GRCm39) |
Q235* |
probably null |
Het |
Top2a |
A |
G |
11: 98,887,665 (GRCm39) |
V1281A |
probably benign |
Het |
Tpgs1 |
T |
C |
10: 79,511,616 (GRCm39) |
Y253H |
probably damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,703,462 (GRCm39) |
T288A |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,154,213 (GRCm39) |
E2140G |
probably benign |
Het |
Uso1 |
A |
G |
5: 92,321,878 (GRCm39) |
Q257R |
probably benign |
Het |
Zfp106 |
A |
G |
2: 120,362,677 (GRCm39) |
V48A |
probably damaging |
Het |
Zfp174 |
T |
A |
16: 3,666,118 (GRCm39) |
S128T |
possibly damaging |
Het |
Zscan26 |
T |
A |
13: 21,629,225 (GRCm39) |
D426V |
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 |
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 |
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'- ATCAGTGTCCACACTTGCAGACAG -3'
(R):5'- TGTTCCCCAGACTAAGCCACAGAAG -3'
Sequencing Primer
(F):5'- gcagacaggcaggcagg -3'
(R):5'- TCCCTGGGTACAGTGTGAC -3'
|
Posted On |
2013-06-11 |