Mutagenetix > Incidental Mutation

Incidental Mutation 'RF032:Cacna1f'

604427

Institutional Source

Beutler Lab

Gene Symbol

Cacna1f

Ensembl Gene

ENSMUSG00000031142

Gene Name

calcium channel, voltage-dependent, alpha 1F subunit

Synonyms

Cav1.4, Sfc17

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF032 (G1)

Quality Score

184.468

Status

Not validated

Chromosome

Chromosomal Location

7607083-7635196 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

GAG to GAGTAG at 7620063 bp (GRCm38)

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: 24,287,727		probably null	Het
Acap3	CTGCTG	CTGCTGCATCCTGGGATGCTG	4: 155,905,102		probably benign	Het
Arid1b	GCG	GCGTCG	17: 4,995,588		probably benign	Het
Blm	CTCC	CTCCTCCTCCTCGTCC	7: 80,512,930		probably benign	Het
Calhm1	C	CTGTGGCCGTGG	19: 47,141,283		probably null	Het
Cluh	CCCGAGCC	CCCGAGCCCGAGCC	11: 74,669,515		probably benign	Het
Cyb5r4	ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,413		probably benign	Het
Dmkn	GT	GTTGTGAAAGTGGTGGAAGTGGTGGAATT	7: 30,767,182		probably benign	Het
Efhd2	CGCC	CGCCGCAGCC	4: 141,874,772		probably benign	Het
Enah	TGGCGGTGG	TG	1: 181,921,929		probably null	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,511,778		probably benign	Het
H2-T10	TTTCCCACTGTA	T	17: 36,120,294		probably null	Het
Ifi207	GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC	GCCTGAGCTGTGGAAGTCTC	1: 173,735,157		probably benign	Het
Igf1r	GATGGAGC	GATGGAGCTGGATATGGAGC	7: 68,226,179		probably benign	Het
Krtap28-10	AGCCACAGCCACCACAGCCACAGCCACCAC	AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC	1: 83,042,258		probably benign	Het
Lmx1b	TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA	TACATCTTGATGCCGTCCA	2: 33,640,489		probably null	Het
Med12l	CAG	CAGAAG	3: 59,275,981		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,275,985		probably benign	Het
Med12l	GCA	GCACCA	3: 59,275,989		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,419,711		probably benign	Het
Nf2	AAAAG	A	11: 4,829,936		probably null	Het
Nusap1	TTAGCAGTGAGGAGCAAGCTGAGA	TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA	2: 119,627,587		probably benign	Het
Olfr418	GTGACATC	G	1: 173,270,709		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972		probably benign	Het
Pik3c2g	G	GGAGA	6: 139,635,658		probably null	Het
Pou3f1	GGCGGCCG	GGCGGCCGCGGCCG	4: 124,657,805		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC	5: 90,608,939		probably benign	Het
Reep1	CC	CCCGAC	6: 71,707,968		probably null	Het
Slc12a1	ACAAACC	ACAAACCTTTGGCCACCAAACC	2: 125,154,210		probably benign	Het
Smpx	CCCCCCA	C	X: 157,720,923		probably benign	Het
Spaca1	TCGC	TCGCTCACGC	4: 34,049,854		probably benign	Het
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,727,666		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,616,063		probably benign	Het
Tgoln1	T	TCACCTCCCGTGGGCTTGCCAGAAG	6: 72,616,074		probably benign	Het
Triobp	CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	15: 78,967,036		probably benign	Het
Vat1l	C	T	8: 114,289,329	L320F	probably damaging	Het
Zfhx3	CAGCAACAG	CAGCAACAGAAGCAACAG	8: 108,956,092		probably benign	Het

Other mutations in Cacna1f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00796:Cacna1f	APN	X	7631031	missense	probably damaging	1.00
IGL01693:Cacna1f	APN	X	7625367	missense	probably damaging	1.00
IGL02143:Cacna1f	APN	X	7613995	intron	probably benign
IGL02167:Cacna1f	APN	X	7616019	missense	probably damaging	1.00
IGL02381:Cacna1f	APN	X	7616068	missense	probably damaging	1.00
IGL02466:Cacna1f	APN	X	7629405	splice site	probably null
IGL03006:Cacna1f	APN	X	7626903	missense	probably damaging	1.00
FR4304:Cacna1f	UTSW	X	7620061	utr 3 prime	probably benign
FR4340:Cacna1f	UTSW	X	7620067	utr 3 prime	probably benign
FR4548:Cacna1f	UTSW	X	7620058	utr 3 prime	probably benign
R0629:Cacna1f	UTSW	X	7620434	missense	probably damaging	0.99
R1791:Cacna1f	UTSW	X	7620439	missense	probably damaging	0.99
R2507:Cacna1f	UTSW	X	7626448	splice site	probably null
R2508:Cacna1f	UTSW	X	7626448	splice site	probably null
R4195:Cacna1f	UTSW	X	7608930	missense	probably damaging	1.00
R4365:Cacna1f	UTSW	X	7609974	missense	probably damaging	1.00
R4366:Cacna1f	UTSW	X	7609974	missense	probably damaging	1.00
R8111:Cacna1f	UTSW	X	7621087	missense	probably damaging	1.00
RF011:Cacna1f	UTSW	X	7620056	utr 3 prime	probably benign
RF025:Cacna1f	UTSW	X	7620057	nonsense	probably null
RF026:Cacna1f	UTSW	X	7620075	nonsense	probably null
RF027:Cacna1f	UTSW	X	7620054	nonsense	probably null
RF028:Cacna1f	UTSW	X	7620060	utr 3 prime	probably benign
RF028:Cacna1f	UTSW	X	7620063	utr 3 prime	probably benign
RF035:Cacna1f	UTSW	X	7620054	nonsense	probably null
RF040:Cacna1f	UTSW	X	7618971	frame shift	probably null
RF044:Cacna1f	UTSW	X	7620057	nonsense	probably null
RF056:Cacna1f	UTSW	X	7620075	nonsense	probably null
RF060:Cacna1f	UTSW	X	7620060	utr 3 prime	probably benign
Z1088:Cacna1f	UTSW	X	7610251	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