Mutagenetix > Incidental Mutation

Incidental Mutation 'R0629:Cacna1f'

57791

Institutional Source

Beutler Lab

Gene Symbol

Cacna1f

Ensembl Gene

ENSMUSG00000031142

Gene Name

calcium channel, voltage-dependent, alpha 1F subunit

Synonyms

Sfc17, Cav1.4

MMRRC Submission

038818-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0629 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7473342-7501435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 7486673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 888 (S888N)

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 damaging
Transcript: ENSMUST00000115725
AA Change: S888N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111390
Gene: ENSMUSG00000031142
AA Change: S888N

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 damaging
Transcript: ENSMUST00000115726
AA Change: S888N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111391
Gene: ENSMUSG00000031142
AA Change: S888N

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

noncoding transcript
Transcript: ENSMUST00000141634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144522

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

Meta Mutation Damage Score

0.6801

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

100% (66/66)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,818,473 (GRCm39)	D86V	probably damaging	Het
Adamts14	G	A	10: 61,047,403 (GRCm39)	Q733*	probably null	Het
Adcy10	A	G	1: 165,370,674 (GRCm39)	D651G	probably damaging	Het
Apcdd1	T	A	18: 63,067,041 (GRCm39)	C52S	probably damaging	Het
Bclaf1	T	C	10: 20,209,172 (GRCm39)	S463P	probably damaging	Het
Cabcoco1	T	C	10: 68,352,108 (GRCm39)	Y68C	probably damaging	Het
Cacna1g	A	G	11: 94,300,369 (GRCm39)	C2134R	possibly damaging	Het
Cdc37	A	C	9: 21,052,064 (GRCm39)	M325R	possibly damaging	Het
Clca3a2	T	A	3: 144,778,000 (GRCm39)	M762L	probably benign	Het
Cntn3	C	T	6: 102,180,937 (GRCm39)	V753M	probably damaging	Het
Col6a6	A	T	9: 105,604,364 (GRCm39)		probably benign	Het
Dscaml1	A	G	9: 45,632,716 (GRCm39)	D1194G	probably damaging	Het
Egfr	G	A	11: 16,819,333 (GRCm39)	G288S	probably damaging	Het
Fbxl17	G	T	17: 63,778,409 (GRCm39)	N19K	probably damaging	Het
Fmo3	A	G	1: 162,785,796 (GRCm39)		probably benign	Het
Frmd6	T	C	12: 70,930,536 (GRCm39)	Y219H	probably damaging	Het
Fuca1	T	C	4: 135,652,955 (GRCm39)	V193A	possibly damaging	Het
Gm7461	C	T	8: 4,727,769 (GRCm39)		noncoding transcript	Het
Gpc5	T	A	14: 115,789,651 (GRCm39)	N508K	possibly damaging	Het
Iqch	A	T	9: 63,332,664 (GRCm39)	D1019E	probably benign	Het
Isyna1	A	G	8: 71,047,358 (GRCm39)	Y27C	probably damaging	Het
Itgb8	T	G	12: 119,166,216 (GRCm39)	H105P	probably benign	Het
Kbtbd11	C	T	8: 15,077,572 (GRCm39)	P57L	probably benign	Het
Kcns3	A	C	12: 11,142,559 (GRCm39)	C47G	probably damaging	Het
Kif21b	A	T	1: 136,099,895 (GRCm39)		probably null	Het
Lama3	A	T	18: 12,552,302 (GRCm39)	H418L	possibly damaging	Het
Lrit3	A	G	3: 129,581,951 (GRCm39)	Y679H	probably damaging	Het
Lrrc19	T	A	4: 94,526,489 (GRCm39)	D356V	probably damaging	Het
Morc2b	A	G	17: 33,354,781 (GRCm39)	M997T	probably benign	Het
Mroh9	T	C	1: 162,888,205 (GRCm39)	H290R	possibly damaging	Het
Mtcl1	A	T	17: 66,645,137 (GRCm39)	S1886T	possibly damaging	Het
Muc20	T	C	16: 32,613,791 (GRCm39)	T529A	possibly damaging	Het
Myo7a	A	C	7: 97,734,673 (GRCm39)	L607R	probably damaging	Het
Myom2	T	A	8: 15,119,783 (GRCm39)	F180I	probably damaging	Het
Myt1l	G	A	12: 29,861,484 (GRCm39)	E89K	unknown	Het
Nek2	A	G	1: 191,563,429 (GRCm39)	N431S	probably benign	Het
Oprm1	A	T	10: 6,782,604 (GRCm39)		probably null	Het
Or2aj4	A	T	16: 19,384,730 (GRCm39)	V301E	possibly damaging	Het
Or5t7	T	A	2: 86,506,873 (GRCm39)	H268L	possibly damaging	Het
Oxsr1	A	G	9: 119,070,850 (GRCm39)		probably benign	Het
Pasd1	G	C	X: 70,982,379 (GRCm39)	R296P	possibly damaging	Het
Pdgfrb	G	A	18: 61,211,720 (GRCm39)		probably null	Het
Proser1	C	A	3: 53,386,485 (GRCm39)	P789Q	probably benign	Het
Ptgs2	A	G	1: 149,976,788 (GRCm39)	Q7R	probably benign	Het
Rab3d	A	G	9: 21,825,982 (GRCm39)	V144A	probably benign	Het
Ralgapb	T	A	2: 158,281,467 (GRCm39)	L167H	probably damaging	Het
Ranbp3	A	G	17: 57,015,200 (GRCm39)	T301A	possibly damaging	Het
Rasgrf1	G	A	9: 89,866,322 (GRCm39)	V587M	probably damaging	Het
Sec16b	A	G	1: 157,392,433 (GRCm39)		probably benign	Het
Sin3b	T	C	8: 73,480,164 (GRCm39)		probably benign	Het
Slc10a2	T	C	8: 5,148,562 (GRCm39)	S128G	probably benign	Het
Tbl1xr1	G	A	3: 22,264,565 (GRCm39)	V507I	probably benign	Het
Tmem8b	T	G	4: 43,669,896 (GRCm39)		probably null	Het
Trak1	A	T	9: 121,196,233 (GRCm39)	T22S	probably benign	Het
Trim30d	A	G	7: 104,136,862 (GRCm39)	I114T	probably damaging	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Ttn	T	C	2: 76,658,474 (GRCm39)		probably benign	Het
Vipr1	T	A	9: 121,489,237 (GRCm39)	Y99*	probably null	Het
Vmn1r210	T	C	13: 23,012,044 (GRCm39)	K81E	probably damaging	Het
Wwc1	T	C	11: 35,744,299 (GRCm39)	Y841C	probably benign	Het
Xrcc4	A	G	13: 90,149,024 (GRCm39)		probably benign	Het
Zdhhc22	A	T	12: 87,035,071 (GRCm39)	I127N	probably damaging	Het
Zdhhc7	A	G	8: 120,814,785 (GRCm39)	L8P	possibly damaging	Het
Zfp664	C	A	5: 124,962,659 (GRCm39)	L18I	probably damaging	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
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
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'- TAGCCAAACCAACCCGTGAGTG -3'
(R):5'- GACTCCTCTGTGTCTGCCCAAATAC -3'

Sequencing Primer
(F):5'- AACCCGTGAGTGTTGGGAATG -3'
(R):5'- CACTTCTCAGAGTATGGAAATGGC -3'

Posted On

2013-07-11