Incidental Mutation 'R7319:Cacna1h'
ID |
568092 |
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 |
045415-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7319 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
25593259-25652757 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25608435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 824
(I824T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077586
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078496]
[ENSMUST00000159048]
[ENSMUST00000159610]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078496
AA Change: I824T
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000077586 Gene: ENSMUSG00000024112 AA Change: I824T
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: I718T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123741 Gene: ENSMUSG00000024112 AA Change: I718T
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 |
possibly damaging
Transcript: ENSMUST00000159610
AA Change: I824T
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000125541 Gene: ENSMUSG00000024112 AA Change: I824T
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
96% (79/82) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
A |
T |
14: 70,393,635 (GRCm39) |
I287N |
probably benign |
Het |
Aco2 |
G |
T |
15: 81,787,820 (GRCm39) |
E223D |
probably damaging |
Het |
Acsf3 |
T |
A |
8: 123,539,770 (GRCm39) |
I466N |
probably damaging |
Het |
Albfm1 |
G |
A |
5: 90,719,625 (GRCm39) |
|
probably null |
Het |
Aox3 |
T |
A |
1: 58,191,761 (GRCm39) |
F438I |
probably benign |
Het |
Arhgap33 |
T |
C |
7: 30,225,794 (GRCm39) |
T591A |
probably benign |
Het |
Ash1l |
C |
T |
3: 88,888,694 (GRCm39) |
A191V |
probably benign |
Het |
Btg2 |
T |
C |
1: 134,006,779 (GRCm39) |
K5E |
probably benign |
Het |
C1galt1 |
T |
A |
6: 7,871,150 (GRCm39) |
Y329N |
probably damaging |
Het |
Carmil3 |
A |
G |
14: 55,731,817 (GRCm39) |
I182V |
probably benign |
Het |
Ccdc150 |
T |
A |
1: 54,302,496 (GRCm39) |
|
probably null |
Het |
Chek1 |
T |
A |
9: 36,633,939 (GRCm39) |
R129W |
probably damaging |
Het |
Chrna6 |
A |
G |
8: 27,896,815 (GRCm39) |
M354T |
possibly damaging |
Het |
Cpq |
A |
G |
15: 33,250,185 (GRCm39) |
T181A |
probably benign |
Het |
Csmd2 |
A |
T |
4: 128,287,472 (GRCm39) |
Y1069F |
|
Het |
Defb28 |
T |
A |
2: 152,361,974 (GRCm39) |
C45S |
possibly damaging |
Het |
Dnah1 |
A |
G |
14: 31,018,551 (GRCm39) |
Y1360H |
probably benign |
Het |
Dnah7c |
T |
C |
1: 46,823,608 (GRCm39) |
V3749A |
possibly damaging |
Het |
Dnah7c |
T |
A |
1: 46,819,935 (GRCm39) |
D3728E |
probably benign |
Het |
Dym |
G |
A |
18: 75,196,245 (GRCm39) |
|
probably null |
Het |
Dync2i2 |
G |
A |
2: 29,928,341 (GRCm39) |
P95L |
probably benign |
Het |
Dzip3 |
A |
G |
16: 48,747,903 (GRCm39) |
|
probably null |
Het |
Eef1akmt4 |
A |
G |
16: 20,436,666 (GRCm39) |
K163E |
probably benign |
Het |
Fbrs |
A |
G |
7: 127,081,985 (GRCm39) |
T242A |
possibly damaging |
Het |
Fgfr3 |
G |
A |
5: 33,885,146 (GRCm39) |
V87M |
possibly damaging |
Het |
Fst |
A |
T |
13: 114,595,068 (GRCm39) |
C19S |
probably benign |
Het |
Gm7276 |
G |
A |
18: 77,273,216 (GRCm39) |
R173W |
unknown |
Het |
Gm9195 |
G |
A |
14: 72,697,929 (GRCm39) |
H1284Y |
probably benign |
Het |
Herc6 |
C |
A |
6: 57,581,074 (GRCm39) |
T258K |
probably damaging |
Het |
Hip1r |
A |
G |
5: 124,137,174 (GRCm39) |
Y678C |
probably damaging |
Het |
Ifne |
A |
T |
4: 88,798,243 (GRCm39) |
N58K |
probably damaging |
Het |
Ighv1-26 |
A |
T |
12: 114,752,163 (GRCm39) |
H60Q |
possibly damaging |
Het |
Ints1 |
A |
G |
5: 139,746,520 (GRCm39) |
F1276L |
probably damaging |
Het |
Itprid2 |
A |
T |
2: 79,466,416 (GRCm39) |
D82V |
probably damaging |
Het |
Kcnc4 |
T |
A |
3: 107,366,100 (GRCm39) |
E36V |
probably benign |
Het |
Kcnq2 |
C |
T |
2: 180,750,895 (GRCm39) |
G315S |
probably damaging |
Het |
Kdm4c |
G |
A |
4: 74,255,200 (GRCm39) |
V585M |
probably damaging |
Het |
Klhl26 |
C |
T |
8: 70,905,592 (GRCm39) |
R106H |
probably damaging |
Het |
Kmo |
T |
C |
1: 175,481,221 (GRCm39) |
F313S |
probably damaging |
Het |
Lmtk3 |
T |
A |
7: 45,443,740 (GRCm39) |
S808T |
unknown |
Het |
Lrch3 |
A |
G |
16: 32,815,363 (GRCm39) |
T585A |
probably benign |
Het |
Lrch4 |
T |
A |
5: 137,637,977 (GRCm39) |
H86Q |
|
Het |
Map3k20 |
A |
G |
2: 72,195,062 (GRCm39) |
D113G |
probably damaging |
Het |
Mbd3l1 |
T |
C |
9: 18,396,417 (GRCm39) |
S181P |
probably benign |
Het |
Mccc2 |
T |
C |
13: 100,104,241 (GRCm39) |
T303A |
probably benign |
Het |
Med27 |
A |
G |
2: 29,303,490 (GRCm39) |
R147G |
possibly damaging |
Het |
Mrps5 |
T |
A |
2: 127,437,762 (GRCm39) |
S196R |
possibly damaging |
Het |
Muc21 |
GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG |
GGGGTGGG |
17: 35,932,935 (GRCm39) |
|
probably benign |
Het |
Myo16 |
A |
T |
8: 10,526,185 (GRCm39) |
|
probably null |
Het |
Nudt2 |
A |
T |
4: 41,477,575 (GRCm39) |
M19L |
probably benign |
Het |
Pcdha11 |
C |
T |
18: 37,146,245 (GRCm39) |
P779S |
probably benign |
Het |
Phykpl |
A |
G |
11: 51,489,530 (GRCm39) |
T379A |
probably benign |
Het |
Plekha8 |
A |
C |
6: 54,601,206 (GRCm39) |
M270L |
probably benign |
Het |
Plekhg5 |
A |
G |
4: 152,192,885 (GRCm39) |
H593R |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,637,196 (GRCm39) |
N293S |
possibly damaging |
Het |
Pramel32 |
G |
A |
4: 88,548,184 (GRCm39) |
P74S |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,232,532 (GRCm39) |
N866K |
probably benign |
Het |
Psme4 |
A |
T |
11: 30,757,790 (GRCm39) |
I308L |
probably benign |
Het |
Ptprb |
T |
C |
10: 116,177,309 (GRCm39) |
V1003A |
probably benign |
Het |
Rbbp8 |
T |
A |
18: 11,865,269 (GRCm39) |
D719E |
probably damaging |
Het |
Rnaset2b |
A |
T |
17: 7,259,166 (GRCm39) |
D144V |
probably benign |
Het |
Senp6 |
T |
G |
9: 80,033,481 (GRCm39) |
D662E |
probably damaging |
Het |
Serpinb3c |
T |
C |
1: 107,200,817 (GRCm39) |
N200S |
possibly damaging |
Het |
Serpinb9g |
C |
G |
13: 33,672,543 (GRCm39) |
Y113* |
probably null |
Het |
Sgf29 |
T |
C |
7: 126,270,821 (GRCm39) |
I134T |
probably benign |
Het |
Sh3bp4 |
T |
G |
1: 89,080,824 (GRCm39) |
|
probably null |
Het |
Stab1 |
G |
A |
14: 30,862,783 (GRCm39) |
L2243F |
probably damaging |
Het |
Sympk |
T |
C |
7: 18,769,770 (GRCm39) |
V149A |
probably benign |
Het |
Syt3 |
C |
T |
7: 44,041,953 (GRCm39) |
Q271* |
probably null |
Het |
Tas2r109 |
A |
G |
6: 132,957,663 (GRCm39) |
I89T |
probably benign |
Het |
Tgif1 |
A |
G |
17: 71,151,847 (GRCm39) |
S255P |
probably damaging |
Het |
Tm9sf1 |
G |
A |
14: 55,875,432 (GRCm39) |
|
probably benign |
Het |
Tnf |
A |
G |
17: 35,419,347 (GRCm39) |
F161S |
possibly damaging |
Het |
Topaz1 |
T |
A |
9: 122,579,428 (GRCm39) |
S779R |
possibly damaging |
Het |
Topors |
A |
G |
4: 40,260,540 (GRCm39) |
S915P |
unknown |
Het |
Tpm4 |
C |
T |
8: 72,900,321 (GRCm39) |
L161F |
probably damaging |
Het |
Trim38 |
C |
T |
13: 23,975,384 (GRCm39) |
T441I |
probably damaging |
Het |
Trpv1 |
A |
G |
11: 73,141,620 (GRCm39) |
M548V |
probably benign |
Het |
Vmn2r68 |
T |
A |
7: 84,883,042 (GRCm39) |
T237S |
probably benign |
Het |
Zc3hav1 |
A |
G |
6: 38,309,209 (GRCm39) |
S538P |
probably benign |
Het |
Zfp541 |
C |
T |
7: 15,813,294 (GRCm39) |
T649I |
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 |
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 |
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'- ACTTTGTTCTCTGAGGTGCC -3'
(R):5'- AGAGAAGCCGACTGTCTTATCTAG -3'
Sequencing Primer
(F):5'- TCTCTGAGGTGCCTACTGAGC -3'
(R):5'- GTCTTATCTAGACGAGACAGCCCTAG -3'
|
Posted On |
2019-06-26 |