Incidental Mutation 'RF040:Cacna1f'
ID |
604798 |
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 # |
RF040 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
X |
Chromosomal Location |
7473342-7501435 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
CTGAATTGGTTCCCAGACCCGTGT to CT
at 7485210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115725]
[ENSMUST00000115726]
[ENSMUST00000133637]
[ENSMUST00000155090]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
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 benign
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 null
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: 99.4%
- 20x: 98.9%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
TGCTGTG |
TGCTGTGACAGCTGTG |
1: 82,891,298 (GRCm39) |
|
probably benign |
Het |
A030005L19Rik |
G |
GTGGCTGCTC |
1: 82,891,311 (GRCm39) |
|
probably benign |
Het |
Brme1 |
TG |
TGTCAGGGCAGCAGCAG |
8: 84,894,204 (GRCm39) |
|
probably benign |
Het |
Calhm1 |
C |
CTGTGGCTGTGGA |
19: 47,129,716 (GRCm39) |
|
probably benign |
Het |
Cdx1 |
CTGCTG |
CTGCTGATGCTG |
18: 61,152,942 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,462 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
Dnajc2 |
TAGTTG |
T |
5: 21,962,695 (GRCm39) |
|
probably null |
Het |
Fgd6 |
ATT |
A |
10: 93,880,187 (GRCm39) |
|
probably null |
Het |
Flywch1 |
CTCCTGGTGT |
CTCCTGGTGTGGGGAGGCTACGTACTCACCCAGTCCTGGTGT |
17: 23,981,143 (GRCm39) |
|
probably null |
Het |
Gab3 |
CTT |
CTTTTT |
X: 74,043,633 (GRCm39) |
|
probably benign |
Het |
Garin5a |
C |
CGGGGTCAGAGGGAGGAAGGCTGGATCCTGGATACA |
7: 44,149,945 (GRCm39) |
|
probably null |
Het |
Garin5a |
GGGAGGA |
GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA |
7: 44,149,955 (GRCm39) |
|
probably null |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
Heatr3 |
TAT |
TATTGAT |
8: 88,883,085 (GRCm39) |
|
probably benign |
Het |
Kmt2e |
TTT |
TTTTCTT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
Luzp1 |
A |
AGGTGGCCTCTTCAGC |
4: 136,270,507 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
AACA |
AACAACA |
X: 70,162,420 (GRCm39) |
|
probably benign |
Het |
Mast4 |
CCTCGGGGACAAGCTGTGAGTTGGGGAAC |
CC |
13: 102,875,749 (GRCm39) |
|
probably benign |
Het |
Med12l |
AGC |
AGCCGC |
3: 59,183,388 (GRCm39) |
|
probably benign |
Het |
Med12l |
GCA |
GCATCA |
3: 59,183,410 (GRCm39) |
|
probably benign |
Het |
Mn1 |
CAG |
CAGAAG |
5: 111,567,571 (GRCm39) |
|
probably benign |
Het |
Morn4 |
GCAGTGAG |
GCAGTGAGTCAGTCAGTGAG |
19: 42,064,550 (GRCm39) |
|
probably null |
Het |
Ncoa6 |
TGCAGC |
TGC |
2: 155,263,651 (GRCm39) |
|
probably benign |
Het |
Nlrp3 |
GGGTA |
G |
11: 59,449,378 (GRCm39) |
|
probably null |
Het |
Nolc1 |
AGCAGCAGC |
AGCAGCAGCCGCAGCAGC |
19: 46,069,802 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
TTAGCAGTGAGGAGCAAGCTGAGA |
TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,458,068 (GRCm39) |
|
probably benign |
Het |
Or10j2 |
GTGACATC |
G |
1: 173,098,276 (GRCm39) |
|
probably null |
Het |
Or52z15 |
ACTTGCTGATATCTT |
ACTT |
7: 103,332,145 (GRCm39) |
|
probably null |
Het |
Osmr |
TTCT |
TTCTTCT |
15: 6,867,182 (GRCm39) |
|
probably benign |
Het |
Padi3 |
TCTCAC |
TC |
4: 140,520,283 (GRCm39) |
|
probably benign |
Het |
Pdik1l |
AC |
ACCACCGC |
4: 134,006,826 (GRCm39) |
|
probably benign |
Het |
Rpgrip1 |
AGGAAGAGG |
AG |
14: 52,386,994 (GRCm39) |
|
probably null |
Het |
Rragd |
CATGCCTTTCATTCTA |
C |
4: 32,995,150 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
CTGA |
C |
2: 112,740,869 (GRCm39) |
|
probably benign |
Het |
Sh3pxd2b |
CCTGTG |
CCTGTGTCTGTG |
11: 32,373,055 (GRCm39) |
|
probably benign |
Het |
Slc39a4 |
TGTGGTC |
TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC |
15: 76,499,066 (GRCm39) |
|
probably benign |
Het |
Smarca2 |
GC |
GCCCCACC |
19: 26,608,422 (GRCm39) |
|
probably benign |
Het |
Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
Sprr2b |
CAGTATGCTGTGAGCCTTGTCCTCCT |
C |
3: 92,224,871 (GRCm39) |
|
probably null |
Het |
Sry |
GCTG |
GCTGGTGGTGGTGGTCATGGAACTG |
Y: 2,662,590 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
CT |
CTATT |
18: 60,961,480 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
GC |
GCTGCTGAGATGGGCACTTTCCCAGAGATCCCCTTGTC |
18: 60,966,655 (GRCm39) |
|
probably benign |
Het |
Tfeb |
AGC |
AGCCGC |
17: 48,097,036 (GRCm39) |
|
probably benign |
Het |
Tfeb |
GCA |
GCATCA |
17: 48,097,037 (GRCm39) |
|
probably benign |
Het |
Tfeb |
GCA |
GCAACA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
Tfeb |
CAG |
CAGGAG |
17: 48,097,035 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
T |
TCACCTCCCGTGGTCTTGCCAGAAG |
6: 72,593,057 (GRCm39) |
|
probably benign |
Het |
Tmem59 |
TTTGTTT |
TTTGTTTGGTTGTTT |
4: 107,047,723 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
TGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGC |
15: 72,673,141 (GRCm39) |
|
probably benign |
Het |
Triobp |
CAA |
CAACCCCAGGACTCCCTGTGCCCAACGGGGGAA |
15: 78,851,263 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
TT |
TTTAT |
2: 67,355,888 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
CAGCA |
CAGCAACAGGAGCA |
8: 109,682,733 (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 |
|
RF032:Cacna1f
|
UTSW |
X |
7,486,302 (GRCm39) |
nonsense |
probably null |
|
RF035:Cacna1f
|
UTSW |
X |
7,486,293 (GRCm39) |
nonsense |
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'- AGCAGTGAAGGAAACCCTCC -3'
(R):5'- GCCACATTGCTAGGTATGGG -3'
Sequencing Primer
(F):5'- CAAAGTATTGGTGAGTTAGAAGCCTG -3'
(R):5'- GGAGAGACAACCCCTAGGC -3'
|
Posted On |
2019-12-04 |