Incidental Mutation 'R2133:Cacna1h'
ID |
233594 |
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 |
040136-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2133 (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 G
at 25602502 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 1403
(F1403L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123741
(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: F1509L
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000077586 Gene: ENSMUSG00000024112 AA Change: F1509L
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: F1403L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123741 Gene: ENSMUSG00000024112 AA Change: F1403L
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 |
possibly damaging
Transcript: ENSMUST00000159610
AA Change: F1509L
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125541 Gene: ENSMUSG00000024112 AA Change: F1509L
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162820
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
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: 121 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067P10Rik |
A |
G |
17: 48,400,972 (GRCm39) |
K86E |
possibly damaging |
Het |
Abcb11 |
A |
T |
2: 69,154,227 (GRCm39) |
V113E |
possibly damaging |
Het |
Acacb |
TGGGG |
TGGG |
5: 114,347,828 (GRCm39) |
|
probably null |
Het |
Adgrb1 |
T |
A |
15: 74,401,757 (GRCm39) |
L251Q |
probably damaging |
Het |
Akap13 |
G |
T |
7: 75,261,182 (GRCm39) |
A1269S |
probably benign |
Het |
Aox3 |
A |
G |
1: 58,209,002 (GRCm39) |
H845R |
probably damaging |
Het |
Apc |
C |
A |
18: 34,445,098 (GRCm39) |
Q665K |
possibly damaging |
Het |
Atp13a2 |
T |
A |
4: 140,732,327 (GRCm39) |
M864K |
probably damaging |
Het |
Atp6v1c2 |
T |
C |
12: 17,371,612 (GRCm39) |
T62A |
probably benign |
Het |
Atp7b |
T |
C |
8: 22,501,093 (GRCm39) |
T937A |
probably damaging |
Het |
BC034090 |
C |
T |
1: 155,101,532 (GRCm39) |
G244D |
probably benign |
Het |
C2 |
G |
A |
17: 35,098,878 (GRCm39) |
T146M |
probably damaging |
Het |
Camk2b |
T |
C |
11: 5,927,880 (GRCm39) |
E390G |
probably benign |
Het |
Cars1 |
C |
A |
7: 143,146,211 (GRCm39) |
R71M |
probably damaging |
Het |
Castor2 |
G |
A |
5: 134,164,992 (GRCm39) |
C187Y |
probably damaging |
Het |
Ccdc141 |
G |
A |
2: 76,889,951 (GRCm39) |
T447I |
probably benign |
Het |
Cep164 |
T |
C |
9: 45,714,481 (GRCm39) |
E182G |
probably damaging |
Het |
Clstn3 |
T |
C |
6: 124,426,462 (GRCm39) |
T575A |
probably benign |
Het |
Cntnap2 |
T |
C |
6: 47,275,379 (GRCm39) |
L1277P |
probably damaging |
Het |
Cyp4a14 |
A |
T |
4: 115,348,588 (GRCm39) |
S325R |
probably damaging |
Het |
Dbt |
T |
A |
3: 116,332,773 (GRCm39) |
D16E |
probably damaging |
Het |
Ddx10 |
T |
A |
9: 53,060,812 (GRCm39) |
R768S |
probably benign |
Het |
Dis3 |
A |
T |
14: 99,317,313 (GRCm39) |
N710K |
probably benign |
Het |
Dmrta1 |
A |
T |
4: 89,576,946 (GRCm39) |
Q134L |
probably damaging |
Het |
Eif3i |
A |
T |
4: 129,490,719 (GRCm39) |
H18Q |
probably benign |
Het |
Emx2 |
A |
G |
19: 59,452,465 (GRCm39) |
T250A |
probably damaging |
Het |
Epb41l4a |
T |
C |
18: 34,007,248 (GRCm39) |
T248A |
probably damaging |
Het |
Epm2a |
A |
G |
10: 11,219,426 (GRCm39) |
E71G |
probably benign |
Het |
Eps15l1 |
A |
T |
8: 73,140,712 (GRCm39) |
V260D |
probably benign |
Het |
Etv4 |
A |
G |
11: 101,666,243 (GRCm39) |
I95T |
probably damaging |
Het |
Etv6 |
T |
C |
6: 134,225,717 (GRCm39) |
V316A |
possibly damaging |
Het |
Exoc4 |
T |
C |
6: 33,735,093 (GRCm39) |
V570A |
probably benign |
Het |
Exoc4 |
T |
C |
6: 33,887,473 (GRCm39) |
S754P |
probably benign |
Het |
Faf1 |
A |
G |
4: 109,568,042 (GRCm39) |
N34S |
probably damaging |
Het |
Fam217a |
T |
C |
13: 35,097,663 (GRCm39) |
H208R |
probably damaging |
Het |
Fgf17 |
T |
C |
14: 70,875,927 (GRCm39) |
R102G |
probably damaging |
Het |
Fhad1 |
G |
A |
4: 141,655,711 (GRCm39) |
R798C |
probably damaging |
Het |
Fkbp15 |
C |
A |
4: 62,246,136 (GRCm39) |
G431W |
probably damaging |
Het |
Gemin4 |
G |
C |
11: 76,101,876 (GRCm39) |
P962A |
probably damaging |
Het |
Gm1587 |
A |
T |
14: 78,032,296 (GRCm39) |
C113* |
probably null |
Het |
Gm28040 |
AGTG |
AGTGGCACCTTTGGTG |
1: 133,255,059 (GRCm39) |
|
probably benign |
Het |
Golim4 |
A |
T |
3: 75,815,456 (GRCm39) |
V116D |
probably damaging |
Het |
Gpr132 |
A |
G |
12: 112,816,023 (GRCm39) |
S268P |
probably damaging |
Het |
Gtpbp2 |
T |
C |
17: 46,472,128 (GRCm39) |
M21T |
probably benign |
Het |
Guca2b |
T |
C |
4: 119,514,828 (GRCm39) |
R78G |
probably benign |
Het |
Helz |
T |
A |
11: 107,561,310 (GRCm39) |
N775K |
unknown |
Het |
Ift20 |
G |
A |
11: 78,430,860 (GRCm39) |
E68K |
probably damaging |
Het |
Insrr |
G |
A |
3: 87,717,879 (GRCm39) |
|
probably null |
Het |
Ipo9 |
A |
G |
1: 135,329,988 (GRCm39) |
V484A |
probably benign |
Het |
Ipo9 |
ATCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTCCTC |
1: 135,314,006 (GRCm39) |
|
probably benign |
Het |
Ipo9 |
TCC |
TCCACC |
1: 135,314,013 (GRCm39) |
|
probably benign |
Het |
Irak3 |
A |
G |
10: 120,001,082 (GRCm39) |
I281T |
probably benign |
Het |
Kcnh8 |
T |
C |
17: 53,200,961 (GRCm39) |
V465A |
probably damaging |
Het |
Khsrp |
A |
T |
17: 57,334,832 (GRCm39) |
I138N |
probably benign |
Het |
Larp1b |
T |
C |
3: 40,924,970 (GRCm39) |
M149T |
possibly damaging |
Het |
Ldhc |
A |
T |
7: 46,519,023 (GRCm39) |
D82V |
probably damaging |
Het |
Lgmn |
T |
C |
12: 102,361,167 (GRCm39) |
Y400C |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lmtk2 |
C |
T |
5: 144,111,806 (GRCm39) |
T842I |
possibly damaging |
Het |
Lpo |
T |
A |
11: 87,711,956 (GRCm39) |
I34F |
probably benign |
Het |
Magel2 |
A |
T |
7: 62,027,486 (GRCm39) |
H130L |
unknown |
Het |
Mamld1 |
C |
A |
X: 70,162,998 (GRCm39) |
Q670K |
probably benign |
Het |
Mcrs1 |
A |
T |
15: 99,141,256 (GRCm39) |
D402E |
probably damaging |
Het |
Mki67 |
T |
A |
7: 135,305,970 (GRCm39) |
|
probably null |
Het |
Morc2a |
T |
A |
11: 3,630,302 (GRCm39) |
C499* |
probably null |
Het |
Mpp2 |
G |
A |
11: 101,955,421 (GRCm39) |
R110C |
probably benign |
Het |
Msra |
T |
A |
14: 64,471,377 (GRCm39) |
T47S |
probably damaging |
Het |
Nrp1 |
A |
T |
8: 129,224,997 (GRCm39) |
E782D |
probably damaging |
Het |
Ogdhl |
T |
C |
14: 32,047,891 (GRCm39) |
V47A |
probably benign |
Het |
Olfml3 |
T |
A |
3: 103,643,185 (GRCm39) |
M399L |
probably benign |
Het |
Optc |
A |
T |
1: 133,831,534 (GRCm39) |
|
probably null |
Het |
Or1j13 |
A |
G |
2: 36,370,059 (GRCm39) |
S28P |
possibly damaging |
Het |
Or2f1 |
C |
A |
6: 42,721,069 (GRCm39) |
L33M |
possibly damaging |
Het |
Or4a72 |
G |
A |
2: 89,405,600 (GRCm39) |
Q157* |
probably null |
Het |
Osbpl6 |
T |
A |
2: 76,416,558 (GRCm39) |
I546K |
probably damaging |
Het |
Pard6g |
T |
C |
18: 80,160,523 (GRCm39) |
V212A |
probably damaging |
Het |
Pcdhb14 |
C |
A |
18: 37,580,923 (GRCm39) |
Q10K |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,379,581 (GRCm39) |
I1069T |
possibly damaging |
Het |
Plcb1 |
T |
A |
2: 135,167,587 (GRCm39) |
Y460* |
probably null |
Het |
Plekha6 |
C |
A |
1: 133,207,103 (GRCm39) |
|
probably null |
Het |
Prelp |
C |
T |
1: 133,842,869 (GRCm39) |
R92K |
probably benign |
Het |
Ptprg |
T |
A |
14: 12,211,637 (GRCm38) |
I198N |
probably damaging |
Het |
Rbm12 |
A |
T |
2: 155,937,430 (GRCm39) |
C947* |
probably null |
Het |
Rc3h2 |
A |
T |
2: 37,268,928 (GRCm39) |
I846K |
probably benign |
Het |
Ren1 |
C |
A |
1: 133,286,720 (GRCm39) |
|
probably null |
Het |
Rfwd3 |
A |
T |
8: 112,024,034 (GRCm39) |
V96E |
probably benign |
Het |
Rnf157 |
A |
G |
11: 116,249,520 (GRCm39) |
V232A |
possibly damaging |
Het |
Ro60 |
T |
C |
1: 143,635,772 (GRCm39) |
D458G |
probably benign |
Het |
Ror1 |
A |
G |
4: 100,267,222 (GRCm39) |
N308D |
probably benign |
Het |
Rrp1 |
T |
C |
10: 78,237,728 (GRCm39) |
|
probably benign |
Het |
Rsph6a |
T |
A |
7: 18,802,031 (GRCm39) |
V360E |
probably damaging |
Het |
Senp1 |
T |
A |
15: 97,973,848 (GRCm39) |
T132S |
probably benign |
Het |
Septin4 |
A |
T |
11: 87,474,262 (GRCm39) |
Q60L |
probably benign |
Het |
Slc41a3 |
C |
T |
6: 90,603,363 (GRCm39) |
A128V |
probably damaging |
Het |
Slc7a9 |
T |
C |
7: 35,152,918 (GRCm39) |
F112S |
probably damaging |
Het |
Slc9a4 |
T |
G |
1: 40,646,901 (GRCm39) |
|
probably null |
Het |
Sort1 |
T |
A |
3: 108,259,002 (GRCm39) |
F678Y |
probably benign |
Het |
Spidr |
G |
A |
16: 15,871,137 (GRCm39) |
L278F |
probably benign |
Het |
Stard13 |
T |
C |
5: 150,968,633 (GRCm39) |
Y879C |
probably damaging |
Het |
Synpo |
T |
C |
18: 60,735,967 (GRCm39) |
N421D |
probably damaging |
Het |
Syt17 |
C |
T |
7: 117,981,270 (GRCm39) |
G351S |
possibly damaging |
Het |
Tacc1 |
A |
T |
8: 25,654,509 (GRCm39) |
N271K |
probably damaging |
Het |
Tasor |
A |
G |
14: 27,198,571 (GRCm39) |
N1301S |
possibly damaging |
Het |
Tdrd6 |
T |
C |
17: 43,935,724 (GRCm39) |
T1775A |
probably benign |
Het |
Tecpr1 |
T |
A |
5: 144,145,463 (GRCm39) |
T595S |
probably benign |
Het |
Tjp3 |
T |
A |
10: 81,113,888 (GRCm39) |
M457L |
possibly damaging |
Het |
Tmem132a |
C |
A |
19: 10,841,430 (GRCm39) |
R298L |
probably benign |
Het |
Trabd2b |
A |
T |
4: 114,467,205 (GRCm39) |
Q478L |
probably benign |
Het |
Trappc12 |
A |
T |
12: 28,796,597 (GRCm39) |
S312T |
probably benign |
Het |
Ttc9b |
T |
A |
7: 27,353,774 (GRCm39) |
|
probably null |
Het |
Ttn |
G |
A |
2: 76,680,956 (GRCm39) |
Q1044* |
probably null |
Het |
Ugt2b34 |
C |
T |
5: 87,054,416 (GRCm39) |
D122N |
probably benign |
Het |
Vps35l |
T |
C |
7: 118,393,798 (GRCm39) |
Y516H |
probably damaging |
Het |
Zc3h6 |
A |
G |
2: 128,809,750 (GRCm39) |
H9R |
possibly damaging |
Het |
Zdhhc13 |
T |
A |
7: 48,474,392 (GRCm39) |
L548Q |
possibly damaging |
Het |
Zfp236 |
T |
C |
18: 82,639,429 (GRCm39) |
M1225V |
probably benign |
Het |
Zfp280d |
T |
C |
9: 72,215,287 (GRCm39) |
F133L |
probably damaging |
Het |
Zfp521 |
G |
A |
18: 13,977,762 (GRCm39) |
P884S |
possibly damaging |
Het |
Zfp64 |
A |
G |
2: 168,782,663 (GRCm39) |
Y146H |
probably damaging |
Het |
Zfyve26 |
T |
A |
12: 79,315,208 (GRCm39) |
I1423F |
possibly damaging |
Het |
Zswim6 |
T |
A |
13: 107,880,522 (GRCm39) |
|
noncoding transcript |
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 |
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'- CAGAGATTCTGGGGAAGGTTTC -3'
(R):5'- ACTACTGCGAGGGTACAGATAC -3'
Sequencing Primer
(F):5'- CTGAGGCGACTTGCTCCAATC -3'
(R):5'- TATCACCACCAAGGCCGAGTG -3'
|
Posted On |
2014-10-01 |