Incidental Mutation 'R4887:Cacna1h'
| ID |
377020 |
| 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 |
041979-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4887 (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 25596261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1920
(V1920A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024999]
[ENSMUST00000078496]
[ENSMUST00000159048]
[ENSMUST00000159610]
[ENSMUST00000160377]
[ENSMUST00000160485]
[ENSMUST00000160920]
[ENSMUST00000162021]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024999
|
| SMART Domains |
Protein: ENSMUSP00000024999
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
29 |
257 |
1.06e-87 |
SMART |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078496
AA Change: V1920A
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000077586
Gene: ENSMUSG00000024112
AA Change: V1920A
| 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 benign
Transcript: ENSMUST00000159048
AA Change: V1814A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000123741
Gene: ENSMUSG00000024112
AA Change: V1814A
| 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: V1920A
PolyPhen 2
Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125541
Gene: ENSMUSG00000024112
AA Change: V1920A
| 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: ENSMUST00000160377
|
| SMART Domains |
Protein: ENSMUSP00000124008
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
4 |
154 |
1.79e-30 |
SMART |
|
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160485
|
| SMART Domains |
Protein: ENSMUSP00000124721
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
4 |
154 |
1.79e-30 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161035
AA Change: V213A
|
| SMART Domains |
Protein: ENSMUSP00000123906
Gene: ENSMUSG00000024112
AA Change: V213A
| 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 |
probably benign
Transcript: ENSMUST00000160920
|
| SMART Domains |
Protein: ENSMUSP00000123828
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
1 |
184 |
7.18e-44 |
SMART |
|
transmembrane domain
|
201 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162021
|
| SMART Domains |
Protein: ENSMUSP00000125180
Gene: ENSMUSG00000033200
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
5 |
111 |
2.35e-4 |
SMART |
|
transmembrane domain
|
128 |
150 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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: 94 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
A |
C |
1: 138,779,903 (GRCm39) |
Y116* |
probably null |
Het |
| Abtb3 |
C |
T |
10: 85,223,242 (GRCm39) |
T17M |
unknown |
Het |
| Acer3 |
T |
C |
7: 97,906,908 (GRCm39) |
T91A |
possibly damaging |
Het |
| Acsbg3 |
A |
T |
17: 57,183,324 (GRCm39) |
I22F |
possibly damaging |
Het |
| Adam12 |
T |
C |
7: 133,774,550 (GRCm39) |
K20E |
possibly damaging |
Het |
| Adamtsl3 |
T |
C |
7: 82,223,822 (GRCm39) |
V275A |
possibly damaging |
Het |
| Afg1l |
C |
T |
10: 42,330,374 (GRCm39) |
V98I |
probably benign |
Het |
| Ajm1 |
G |
A |
2: 25,469,759 (GRCm39) |
R51C |
possibly damaging |
Het |
| Alpk1 |
C |
T |
3: 127,467,124 (GRCm39) |
G1052R |
probably damaging |
Het |
| Anln |
A |
T |
9: 22,291,484 (GRCm39) |
S115T |
possibly damaging |
Het |
| Apob |
T |
A |
12: 8,063,099 (GRCm39) |
N3827K |
probably damaging |
Het |
| Aqr |
G |
A |
2: 113,980,990 (GRCm39) |
L264F |
probably damaging |
Het |
| Arhgap33 |
T |
C |
7: 30,231,617 (GRCm39) |
S123G |
probably damaging |
Het |
| Arvcf |
C |
T |
16: 18,216,863 (GRCm39) |
R333* |
probably null |
Het |
| Brca2 |
T |
A |
5: 150,480,402 (GRCm39) |
L2724Q |
probably damaging |
Het |
| C2cd6 |
T |
A |
1: 59,133,893 (GRCm39) |
T43S |
probably benign |
Het |
| Capsl |
A |
T |
15: 9,457,858 (GRCm39) |
I26F |
possibly damaging |
Het |
| Card10 |
A |
T |
15: 78,665,724 (GRCm39) |
V673E |
possibly damaging |
Het |
| Catspere2 |
A |
G |
1: 177,931,515 (GRCm39) |
Y478C |
unknown |
Het |
| Ccar1 |
A |
G |
10: 62,588,997 (GRCm39) |
S829P |
unknown |
Het |
| Ccdc121 |
A |
G |
5: 31,643,596 (GRCm39) |
I109V |
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 179,972,200 (GRCm39) |
M1334T |
possibly damaging |
Het |
| Ceacam2 |
C |
T |
7: 25,220,257 (GRCm39) |
C267Y |
probably benign |
Het |
| Cep68 |
G |
A |
11: 20,189,239 (GRCm39) |
T591M |
probably benign |
Het |
| Chil4 |
T |
C |
3: 106,111,460 (GRCm39) |
K218R |
probably benign |
Het |
| Cldn14 |
G |
T |
16: 93,716,747 (GRCm39) |
T33K |
possibly damaging |
Het |
| Copa |
T |
A |
1: 171,919,843 (GRCm39) |
C140S |
probably benign |
Het |
| Coq6 |
T |
C |
12: 84,419,070 (GRCm39) |
L358P |
probably damaging |
Het |
| Cyfip1 |
C |
T |
7: 55,521,816 (GRCm39) |
P40L |
probably damaging |
Het |
| Dennd2a |
A |
C |
6: 39,474,093 (GRCm39) |
S414A |
probably benign |
Het |
| Dpm1 |
T |
C |
2: 168,059,679 (GRCm39) |
N139S |
probably benign |
Het |
| Dpp7 |
T |
A |
2: 25,242,770 (GRCm39) |
|
probably null |
Het |
| Ednrb |
T |
C |
14: 104,057,447 (GRCm39) |
I372V |
possibly damaging |
Het |
| Edrf1 |
G |
T |
7: 133,260,339 (GRCm39) |
M83I |
probably damaging |
Het |
| Fam135a |
G |
A |
1: 24,063,334 (GRCm39) |
Q1087* |
probably null |
Het |
| Fancg |
T |
C |
4: 43,006,866 (GRCm39) |
T275A |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,151,694 (GRCm39) |
H2520L |
probably damaging |
Het |
| Fmn2 |
T |
C |
1: 174,409,527 (GRCm39) |
S587P |
unknown |
Het |
| Foxr2 |
A |
G |
X: 151,913,312 (GRCm39) |
Q61R |
probably damaging |
Het |
| Frrs1 |
A |
G |
3: 116,696,065 (GRCm39) |
*124W |
probably null |
Het |
| Gm7535 |
T |
A |
17: 18,131,333 (GRCm39) |
|
probably benign |
Het |
| H4c1 |
T |
C |
13: 23,944,935 (GRCm39) |
D69G |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,864,484 (GRCm39) |
V706A |
probably damaging |
Het |
| Hivep3 |
A |
G |
4: 119,980,131 (GRCm39) |
E1723G |
probably damaging |
Het |
| Igsf9b |
A |
G |
9: 27,233,946 (GRCm39) |
I382V |
probably benign |
Het |
| Ints1 |
G |
T |
5: 139,756,911 (GRCm39) |
T467N |
possibly damaging |
Het |
| Iqca1 |
G |
A |
1: 89,973,423 (GRCm39) |
T783M |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 22,886,448 (GRCm39) |
K131R |
possibly damaging |
Het |
| Krt35 |
T |
C |
11: 99,983,956 (GRCm39) |
Y348C |
probably damaging |
Het |
| Ldlrad3 |
A |
G |
2: 101,943,881 (GRCm39) |
C64R |
probably damaging |
Het |
| Lilrb4b |
C |
T |
10: 51,360,616 (GRCm39) |
A272V |
possibly damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,505,698 (GRCm39) |
H2090R |
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,195,697 (GRCm39) |
C1276* |
probably null |
Het |
| Matn1 |
G |
A |
4: 130,679,425 (GRCm39) |
A360T |
probably benign |
Het |
| Minpp1 |
G |
A |
19: 32,475,784 (GRCm39) |
V306I |
probably benign |
Het |
| Mkx |
G |
A |
18: 6,992,904 (GRCm39) |
R127W |
probably damaging |
Het |
| Mrpl48 |
G |
T |
7: 100,195,616 (GRCm39) |
|
probably benign |
Het |
| Ms4a2 |
A |
G |
19: 11,595,793 (GRCm39) |
L166S |
possibly damaging |
Het |
| Mtus2 |
T |
A |
5: 148,013,913 (GRCm39) |
Y235* |
probably null |
Het |
| Myh4 |
G |
T |
11: 67,131,880 (GRCm39) |
W113C |
probably damaging |
Het |
| Nav2 |
T |
A |
7: 49,198,182 (GRCm39) |
C1270* |
probably null |
Het |
| Ncoa5 |
A |
G |
2: 164,844,070 (GRCm39) |
L111P |
probably damaging |
Het |
| Nup107 |
T |
C |
10: 117,606,383 (GRCm39) |
Y453C |
probably damaging |
Het |
| Oca2 |
C |
T |
7: 55,980,106 (GRCm39) |
Q604* |
probably null |
Het |
| Or13a19 |
T |
C |
7: 139,903,014 (GRCm39) |
M134T |
probably benign |
Het |
| Or13p5 |
A |
C |
4: 118,591,885 (GRCm39) |
H53P |
probably benign |
Het |
| Or14j10 |
A |
T |
17: 37,934,782 (GRCm39) |
V248D |
probably damaging |
Het |
| Or5p58 |
T |
A |
7: 107,694,303 (GRCm39) |
N158I |
probably benign |
Het |
| Or8g33 |
T |
C |
9: 39,337,531 (GRCm39) |
T279A |
possibly damaging |
Het |
| Pde3a |
G |
T |
6: 141,416,668 (GRCm39) |
G514V |
possibly damaging |
Het |
| Pik3cb |
A |
T |
9: 98,983,381 (GRCm39) |
C76S |
probably damaging |
Het |
| Plk1 |
T |
C |
7: 121,767,828 (GRCm39) |
V411A |
probably damaging |
Het |
| Pole |
C |
T |
5: 110,472,619 (GRCm39) |
P1600L |
probably damaging |
Het |
| Prr36 |
T |
C |
8: 4,260,881 (GRCm39) |
T979A |
probably benign |
Het |
| Rdh7 |
T |
A |
10: 127,721,590 (GRCm39) |
T229S |
probably benign |
Het |
| Rnpepl1 |
A |
T |
1: 92,842,835 (GRCm39) |
T140S |
probably damaging |
Het |
| Rps6kc1 |
A |
T |
1: 190,530,891 (GRCm39) |
S947T |
probably benign |
Het |
| Rtl1 |
A |
G |
12: 109,558,138 (GRCm39) |
F1234L |
probably damaging |
Het |
| Sdc1 |
G |
A |
12: 8,841,708 (GRCm39) |
M279I |
probably damaging |
Het |
| Siae |
T |
C |
9: 37,539,096 (GRCm39) |
L169P |
possibly damaging |
Het |
| Slc22a22 |
C |
T |
15: 57,113,148 (GRCm39) |
V364I |
probably benign |
Het |
| Sltm |
G |
T |
9: 70,496,260 (GRCm39) |
V932F |
probably damaging |
Het |
| Smad1 |
A |
G |
8: 80,076,381 (GRCm39) |
L279P |
probably damaging |
Het |
| Spag17 |
G |
T |
3: 99,958,147 (GRCm39) |
G935V |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,723,895 (GRCm39) |
S546P |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,684,844 (GRCm39) |
I519V |
probably benign |
Het |
| Syt16 |
A |
T |
12: 74,176,160 (GRCm39) |
I10F |
probably damaging |
Het |
| Trim43b |
C |
G |
9: 88,973,365 (GRCm39) |
G123R |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,843,475 (GRCm39) |
Y1572H |
probably damaging |
Het |
| Umodl1 |
G |
A |
17: 31,227,639 (GRCm39) |
R1324H |
probably benign |
Het |
| Vmn2r44 |
A |
T |
7: 8,380,985 (GRCm39) |
W303R |
probably benign |
Het |
| Wdr93 |
T |
C |
7: 79,435,522 (GRCm39) |
Y684H |
probably damaging |
Het |
| Wnk2 |
G |
A |
13: 49,224,478 (GRCm39) |
R268C |
probably damaging |
Het |
| Zfp438 |
C |
T |
18: 5,213,776 (GRCm39) |
C394Y |
possibly 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 |
|
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 |
|
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'- ATCTGAACTGTGTGGCCTGAG -3'
(R):5'- TCATGAAGCACCTGGAGGAG -3'
Sequencing Primer
(F):5'- GCCACGCTGCCCAATTTC -3'
(R):5'- CCGAGATCGAGCTGGAGATC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation