Incidental Mutation 'RF032:Cacna1f'
| ID |
604427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacna1f
|
| Ensembl Gene |
ENSMUSG00000031142 |
| Gene Name |
calcium channel, voltage-dependent, alpha 1F subunit |
| Synonyms |
Sfc17, Cav1.4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF032 (G1)
|
| Quality Score |
184.468 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
7473342-7501435 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
GAG to GAGTAG
at 7486302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115725]
[ENSMUST00000115726]
[ENSMUST00000133637]
[ENSMUST00000155090]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000115725
|
| SMART Domains |
Protein: ENSMUSP00000111390
Gene: ENSMUSG00000031142
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
129 |
371 |
9.3e-59 |
PFAM |
|
PDB:4DEY|B
|
372 |
415 |
2e-21 |
PDB |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
|
transmembrane domain
|
525 |
547 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
563 |
757 |
3.8e-44 |
PFAM |
|
coiled coil region
|
806 |
834 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
909 |
1139 |
1.1e-50 |
PFAM |
|
Pfam:Ion_trans
|
1227 |
1436 |
2.7e-64 |
PFAM |
|
Pfam:PKD_channel
|
1272 |
1443 |
1e-10 |
PFAM |
|
Blast:EFh
|
1457 |
1485 |
2e-8 |
BLAST |
|
Ca_chan_IQ
|
1571 |
1605 |
3.71e-14 |
SMART |
|
low complexity region
|
1636 |
1655 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115726
|
| SMART Domains |
Protein: ENSMUSP00000111391
Gene: ENSMUSG00000031142
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
91 |
383 |
2.1e-70 |
PFAM |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
525 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
528 |
768 |
3.8e-54 |
PFAM |
|
coiled coil region
|
806 |
834 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
873 |
1151 |
2.4e-59 |
PFAM |
|
Pfam:Ion_trans
|
1192 |
1455 |
2.6e-67 |
PFAM |
|
Pfam:PKD_channel
|
1285 |
1450 |
8.5e-10 |
PFAM |
|
Pfam:GPHH
|
1457 |
1526 |
2.7e-37 |
PFAM |
|
Ca_chan_IQ
|
1578 |
1612 |
3.71e-14 |
SMART |
|
Pfam:CAC1F_C
|
1622 |
1983 |
1.5e-164 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133637
|
| SMART Domains |
Protein: ENSMUSP00000116051
Gene: ENSMUSG00000031142
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
96 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
129 |
371 |
4.8e-59 |
PFAM |
|
PDB:4DEY|B
|
372 |
415 |
9e-22 |
PDB |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
|
transmembrane domain
|
525 |
547 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
563 |
757 |
2.2e-44 |
PFAM |
|
low complexity region
|
822 |
832 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155090
|
| SMART Domains |
Protein: ENSMUSP00000138116
Gene: ENSMUSG00000031142
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
96 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
129 |
371 |
1.1e-59 |
PFAM |
|
PDB:4DEY|B
|
372 |
415 |
4e-22 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]
PHENOTYPE: Homozygous or hemizygous mutation of this gene results in impaired eye electrophysiology, abnormal retinal neuronal layer, bipolar cell, and horizontal cell morphology, and impaired retinal synapse morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
TACCT |
TACCTGACCT |
17: 24,506,701 (GRCm39) |
|
probably null |
Het |
| Acap3 |
CTGCTG |
CTGCTGCATCCTGGGATGCTG |
4: 155,989,559 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
GCG |
GCGTCG |
17: 5,045,863 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTCC |
CTCCTCCTCCTCGTCC |
7: 80,162,678 (GRCm39) |
|
probably benign |
Het |
| Calhm1 |
C |
CTGTGGCCGTGG |
19: 47,129,722 (GRCm39) |
|
probably null |
Het |
| Cluh |
CCCGAGCC |
CCCGAGCCCGAGCC |
11: 74,560,341 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,466 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GT |
GTTGTGAAAGTGGTGGAAGTGGTGGAATT |
7: 30,466,607 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
CGCC |
CGCCGCAGCC |
4: 141,602,083 (GRCm39) |
|
probably benign |
Het |
| Enah |
TGGCGGTGG |
TG |
1: 181,749,494 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| H2-T10 |
TTTCCCACTGTA |
T |
17: 36,431,186 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC |
GCCTGAGCTGTGGAAGTCTC |
1: 173,562,723 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
GATGGAGC |
GATGGAGCTGGATATGGAGC |
7: 67,875,927 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,019,979 (GRCm39) |
|
probably benign |
Het |
| Lmx1b |
TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA |
TACATCTTGATGCCGTCCA |
2: 33,530,501 (GRCm39) |
|
probably null |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCA |
GCACCA |
3: 59,183,410 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCGGC |
3: 59,183,406 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
CAG |
CAGAAG |
5: 111,567,577 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
TTAGCAGTGAGGAGCAAGCTGAGA |
TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,068 (GRCm39) |
|
probably benign |
Het |
| Or10j2 |
GTGACATC |
G |
1: 173,098,276 (GRCm39) |
|
probably null |
Het |
| Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
G |
GGAGA |
6: 139,612,656 (GRCm39) |
|
probably null |
Het |
| Pou3f1 |
GGCGGCCG |
GGCGGCCGCGGCCG |
4: 124,551,598 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
ATTC |
ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC |
5: 90,756,798 (GRCm39) |
|
probably benign |
Het |
| Reep1 |
CC |
CCCGAC |
6: 71,684,952 (GRCm39) |
|
probably null |
Het |
| Slc12a1 |
ACAAACC |
ACAAACCTTTGGCCACCAAACC |
2: 124,996,130 (GRCm39) |
|
probably benign |
Het |
| Smpx |
CCCCCCA |
C |
X: 156,503,919 (GRCm39) |
|
probably benign |
Het |
| Spaca1 |
TCGC |
TCGCTCACGC |
4: 34,049,854 (GRCm39) |
|
probably benign |
Het |
| Supt20 |
GCAGCA |
GCAGCACCAGCA |
3: 54,635,087 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
GCTTGCCAGAAT |
GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT |
6: 72,593,046 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
T |
TCACCTCCCGTGGGCTTGCCAGAAG |
6: 72,593,057 (GRCm39) |
|
probably benign |
Het |
| Triobp |
CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
15: 78,851,236 (GRCm39) |
|
probably benign |
Het |
| Vat1l |
C |
T |
8: 115,016,069 (GRCm39) |
L320F |
probably damaging |
Het |
| Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 109,682,724 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cacna1f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00796:Cacna1f
|
APN |
X |
7,497,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01693:Cacna1f
|
APN |
X |
7,491,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02143:Cacna1f
|
APN |
X |
7,480,234 (GRCm39) |
intron |
probably benign |
|
|
IGL02167:Cacna1f
|
APN |
X |
7,482,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02381:Cacna1f
|
APN |
X |
7,482,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02466:Cacna1f
|
APN |
X |
7,495,644 (GRCm39) |
splice site |
probably null |
|
|
IGL03006:Cacna1f
|
APN |
X |
7,493,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Cacna1f
|
UTSW |
X |
7,486,300 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4340:Cacna1f
|
UTSW |
X |
7,486,306 (GRCm39) |
utr 3 prime |
probably benign |
|
|
FR4548:Cacna1f
|
UTSW |
X |
7,486,297 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0629:Cacna1f
|
UTSW |
X |
7,486,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1791:Cacna1f
|
UTSW |
X |
7,486,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2507:Cacna1f
|
UTSW |
X |
7,492,687 (GRCm39) |
splice site |
probably null |
|
|
R2508:Cacna1f
|
UTSW |
X |
7,492,687 (GRCm39) |
splice site |
probably null |
|
|
R4195:Cacna1f
|
UTSW |
X |
7,475,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4365:Cacna1f
|
UTSW |
X |
7,476,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4366:Cacna1f
|
UTSW |
X |
7,476,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8111:Cacna1f
|
UTSW |
X |
7,487,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF011:Cacna1f
|
UTSW |
X |
7,486,295 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF025:Cacna1f
|
UTSW |
X |
7,486,296 (GRCm39) |
nonsense |
probably null |
|
|
RF026:Cacna1f
|
UTSW |
X |
7,486,314 (GRCm39) |
nonsense |
probably null |
|
|
RF027:Cacna1f
|
UTSW |
X |
7,486,293 (GRCm39) |
nonsense |
probably null |
|
|
RF028:Cacna1f
|
UTSW |
X |
7,486,302 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF028:Cacna1f
|
UTSW |
X |
7,486,299 (GRCm39) |
utr 3 prime |
probably benign |
|
|
RF035:Cacna1f
|
UTSW |
X |
7,486,293 (GRCm39) |
nonsense |
probably null |
|
|
RF040:Cacna1f
|
UTSW |
X |
7,485,210 (GRCm39) |
frame shift |
probably null |
|
|
RF044:Cacna1f
|
UTSW |
X |
7,486,296 (GRCm39) |
nonsense |
probably null |
|
|
RF056:Cacna1f
|
UTSW |
X |
7,486,314 (GRCm39) |
nonsense |
probably null |
|
|
RF060:Cacna1f
|
UTSW |
X |
7,486,299 (GRCm39) |
utr 3 prime |
probably benign |
|
|
Z1088:Cacna1f
|
UTSW |
X |
7,476,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTGCATATAACACTCACTAGGC -3'
(R):5'- TGCCTCCTGGGTAGTTCTAG -3'
Sequencing Primer
(F):5'- TGTCCCAGCGCTGTTCTAAGAG -3'
(R):5'- CCTGGGTAGTTCTAGGGCTCC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation