Mutagenetix > Incidental Mutation

Incidental Mutation 'R6948:Catsperb'

540980

Institutional Source

Beutler Lab

Gene Symbol

Catsperb

Ensembl Gene

ENSMUSG00000047014

Gene Name

cation channel sperm associated auxiliary subunit beta

Synonyms

4932415G16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R6948 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101370912-101592268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101447327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 276 (I276L)

Ref Sequence

ENSEMBL: ENSMUSP00000152678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055156] [ENSMUST00000221241]

AlphaFold

A2RTF1

Predicted Effect

probably benign
Transcript: ENSMUST00000055156
AA Change: I276L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: I276L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
transmembrane domain	73	95	N/A	INTRINSIC
Pfam:CATSPERB	569	1088	1.1e-258	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000221241
AA Change: I276L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgap2	A	G	2: 91,097,524 (GRCm39)	T107A	probably benign	Het
Calhm3	T	A	19: 47,140,344 (GRCm39)	M250L	probably damaging	Het
Cd70	T	C	17: 57,456,594 (GRCm39)	E3G	probably damaging	Het
Cenpj	A	T	14: 56,790,683 (GRCm39)	S455R	probably damaging	Het
Cgn	C	G	3: 94,680,531 (GRCm39)	E590D	probably benign	Het
Cpvl	T	A	6: 53,873,468 (GRCm39)	I423F	possibly damaging	Het
Cyp2c54	T	A	19: 40,034,636 (GRCm39)	M345L	possibly damaging	Het
Dner	T	C	1: 84,383,738 (GRCm39)	N549D	probably damaging	Het
Fat4	T	A	3: 39,063,595 (GRCm39)	L4517Q	probably damaging	Het
Fbxw11	A	G	11: 32,692,597 (GRCm39)	T523A	probably damaging	Het
Flg	A	G	3: 93,195,475 (GRCm39)		probably benign	Het
Gcfc2	A	G	6: 81,910,734 (GRCm39)	E237G	probably benign	Het
Ipo5	G	T	14: 121,160,527 (GRCm39)	M181I	probably benign	Het
Itprid1	C	T	6: 55,955,470 (GRCm39)	T1026I	probably benign	Het
Klhl32	A	G	4: 24,629,250 (GRCm39)	Y506H	probably benign	Het
Mast3	G	A	8: 71,238,126 (GRCm39)	T505I	probably damaging	Het
Mrgprx2	A	T	7: 48,132,464 (GRCm39)	V118D	possibly damaging	Het
Mtor	T	G	4: 148,621,209 (GRCm39)	V1869G	probably benign	Het
Mycbp2	A	T	14: 103,522,703 (GRCm39)	M720K	possibly damaging	Het
Npy4r	A	G	14: 33,868,731 (GRCm39)	Y186H	probably benign	Het
Obscn	A	G	11: 58,997,142 (GRCm39)	S1520P	probably damaging	Het
Or10g1b	A	T	14: 52,627,614 (GRCm39)	F205L	probably benign	Het
Pex1	A	G	5: 3,655,994 (GRCm39)	N274D	probably benign	Het
Plxnb1	T	C	9: 108,945,702 (GRCm39)	Y2078H	probably damaging	Het
Rasgrp1	T	C	2: 117,129,085 (GRCm39)	D178G	probably damaging	Het
Reln	A	G	5: 22,177,033 (GRCm39)	S1878P	probably damaging	Het
Rims2	T	C	15: 39,374,737 (GRCm39)	V1033A	probably benign	Het
Scaf1	G	T	7: 44,662,971 (GRCm39)	S14*	probably null	Het
Serpinb9d	A	G	13: 33,384,706 (GRCm39)	S228G	possibly damaging	Het
Slc22a14	C	A	9: 119,060,482 (GRCm39)	A93S	probably damaging	Het
Sox30	G	A	11: 45,908,166 (GRCm39)	V778M	probably damaging	Het
Tecrl	T	C	5: 83,457,097 (GRCm39)	I128V	probably benign	Het
Trip10	T	A	17: 57,569,448 (GRCm39)	C491S	probably damaging	Het
Vmn1r26	A	T	6: 57,985,718 (GRCm39)	M157K	probably damaging	Het
Zbtb1	A	T	12: 76,432,601 (GRCm39)	S196C	probably damaging	Het
Zfp236	T	C	18: 82,662,187 (GRCm39)	D582G	possibly damaging	Het
Zfp384	A	G	6: 125,001,873 (GRCm39)	T125A	probably benign	Het
Zpr1	T	G	9: 46,184,939 (GRCm39)		probably null	Het

Other mutations in Catsperb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00532:Catsperb	APN	12	101,429,378 (GRCm39)	missense	probably damaging	1.00
IGL00580:Catsperb	APN	12	101,557,788 (GRCm39)	missense	probably benign	0.01
IGL00661:Catsperb	APN	12	101,554,357 (GRCm39)	missense	probably damaging	1.00
IGL00979:Catsperb	APN	12	101,381,584 (GRCm39)	missense	probably benign	0.34
IGL01154:Catsperb	APN	12	101,591,940 (GRCm39)	missense	possibly damaging	0.79
IGL01360:Catsperb	APN	12	101,591,513 (GRCm39)	missense	probably damaging	1.00
IGL01607:Catsperb	APN	12	101,446,985 (GRCm39)	splice site	probably benign
IGL01679:Catsperb	APN	12	101,557,841 (GRCm39)	splice site	probably null
IGL01827:Catsperb	APN	12	101,557,799 (GRCm39)	missense	probably benign	0.00
IGL01866:Catsperb	APN	12	101,475,570 (GRCm39)	nonsense	probably null
IGL02161:Catsperb	APN	12	101,375,674 (GRCm39)	splice site	probably benign
IGL02177:Catsperb	APN	12	101,507,721 (GRCm39)	missense	probably damaging	1.00
IGL02618:Catsperb	APN	12	101,446,983 (GRCm39)	splice site	probably benign
IGL02721:Catsperb	APN	12	101,591,556 (GRCm39)	missense	probably null	1.00
IGL02828:Catsperb	APN	12	101,447,041 (GRCm39)	missense	probably benign	0.00
BB001:Catsperb	UTSW	12	101,486,824 (GRCm39)	missense	probably benign	0.02
BB011:Catsperb	UTSW	12	101,486,824 (GRCm39)	missense	probably benign	0.02
R0571:Catsperb	UTSW	12	101,569,033 (GRCm39)	missense	possibly damaging	0.72
R0727:Catsperb	UTSW	12	101,560,614 (GRCm39)	splice site	probably null
R0842:Catsperb	UTSW	12	101,429,307 (GRCm39)	missense	probably damaging	1.00
R1187:Catsperb	UTSW	12	101,591,991 (GRCm39)	missense	probably benign	0.07
R1432:Catsperb	UTSW	12	101,588,476 (GRCm39)	missense	probably damaging	1.00
R1449:Catsperb	UTSW	12	101,554,456 (GRCm39)	missense	probably benign	0.09
R1488:Catsperb	UTSW	12	101,560,526 (GRCm39)	missense	probably damaging	0.97
R1540:Catsperb	UTSW	12	101,378,589 (GRCm39)	missense	probably benign	0.02
R1560:Catsperb	UTSW	12	101,591,985 (GRCm39)	missense	probably benign	0.01
R1563:Catsperb	UTSW	12	101,554,361 (GRCm39)	missense	probably damaging	1.00
R1583:Catsperb	UTSW	12	101,429,373 (GRCm39)	missense	probably damaging	0.96
R1989:Catsperb	UTSW	12	101,568,970 (GRCm39)	missense	probably damaging	1.00
R1993:Catsperb	UTSW	12	101,569,026 (GRCm39)	missense	possibly damaging	0.86
R1995:Catsperb	UTSW	12	101,569,026 (GRCm39)	missense	possibly damaging	0.86
R2037:Catsperb	UTSW	12	101,474,221 (GRCm39)	missense	probably damaging	1.00
R2186:Catsperb	UTSW	12	101,447,041 (GRCm39)	missense	probably benign	0.00
R2217:Catsperb	UTSW	12	101,560,478 (GRCm39)	missense	probably damaging	0.99
R2391:Catsperb	UTSW	12	101,590,965 (GRCm39)	missense	probably damaging	1.00
R2679:Catsperb	UTSW	12	101,429,404 (GRCm39)	missense	probably damaging	1.00
R3848:Catsperb	UTSW	12	101,475,585 (GRCm39)	missense	probably damaging	0.98
R4023:Catsperb	UTSW	12	101,568,942 (GRCm39)	nonsense	probably null
R4507:Catsperb	UTSW	12	101,447,087 (GRCm39)	critical splice donor site	probably null
R4558:Catsperb	UTSW	12	101,557,799 (GRCm39)	missense	possibly damaging	0.94
R4649:Catsperb	UTSW	12	101,507,771 (GRCm39)	missense	probably benign	0.01
R4651:Catsperb	UTSW	12	101,507,771 (GRCm39)	missense	probably benign	0.01
R4866:Catsperb	UTSW	12	101,474,208 (GRCm39)	missense	probably damaging	1.00
R4873:Catsperb	UTSW	12	101,554,244 (GRCm39)	missense	possibly damaging	0.90
R4875:Catsperb	UTSW	12	101,554,244 (GRCm39)	missense	possibly damaging	0.90
R4897:Catsperb	UTSW	12	101,569,025 (GRCm39)	missense	probably damaging	0.98
R5002:Catsperb	UTSW	12	101,486,813 (GRCm39)	missense	probably benign
R5137:Catsperb	UTSW	12	101,516,070 (GRCm39)	missense	probably damaging	0.96
R5396:Catsperb	UTSW	12	101,560,543 (GRCm39)	missense	possibly damaging	0.90
R5450:Catsperb	UTSW	12	101,412,327 (GRCm39)	missense	possibly damaging	0.92
R5484:Catsperb	UTSW	12	101,542,175 (GRCm39)	missense	probably benign	0.38
R5846:Catsperb	UTSW	12	101,569,025 (GRCm39)	missense	probably damaging	0.98
R5905:Catsperb	UTSW	12	101,568,959 (GRCm39)	missense	possibly damaging	0.69
R5906:Catsperb	UTSW	12	101,476,721 (GRCm39)	missense	probably damaging	1.00
R6034:Catsperb	UTSW	12	101,542,091 (GRCm39)	missense	probably benign
R6034:Catsperb	UTSW	12	101,542,091 (GRCm39)	missense	probably benign
R6149:Catsperb	UTSW	12	101,516,098 (GRCm39)	missense	probably damaging	1.00
R6165:Catsperb	UTSW	12	101,542,075 (GRCm39)	missense	possibly damaging	0.90
R6210:Catsperb	UTSW	12	101,378,827 (GRCm39)	splice site	probably null
R6297:Catsperb	UTSW	12	101,557,655 (GRCm39)	splice site	probably null
R6302:Catsperb	UTSW	12	101,554,402 (GRCm39)	missense	possibly damaging	0.95
R6681:Catsperb	UTSW	12	101,590,994 (GRCm39)	nonsense	probably null
R6698:Catsperb	UTSW	12	101,475,466 (GRCm39)	missense	probably damaging	1.00
R6869:Catsperb	UTSW	12	101,446,996 (GRCm39)	missense	probably benign	0.09
R7035:Catsperb	UTSW	12	101,381,593 (GRCm39)	missense	probably damaging	1.00
R7073:Catsperb	UTSW	12	101,475,497 (GRCm39)	missense	probably benign	0.09
R7100:Catsperb	UTSW	12	101,412,297 (GRCm39)	missense	possibly damaging	0.83
R7338:Catsperb	UTSW	12	101,447,243 (GRCm39)	missense	probably benign	0.08
R7397:Catsperb	UTSW	12	101,554,282 (GRCm39)	missense	possibly damaging	0.84
R7413:Catsperb	UTSW	12	101,447,307 (GRCm39)	missense	probably damaging	1.00
R7422:Catsperb	UTSW	12	101,554,293 (GRCm39)	missense	probably damaging	1.00
R7425:Catsperb	UTSW	12	101,557,757 (GRCm39)	missense	probably damaging	0.96
R7578:Catsperb	UTSW	12	101,554,544 (GRCm39)	missense	probably benign	0.01
R7924:Catsperb	UTSW	12	101,486,824 (GRCm39)	missense	probably benign	0.02
R8021:Catsperb	UTSW	12	101,554,322 (GRCm39)	missense	probably benign	0.22
R8060:Catsperb	UTSW	12	101,569,025 (GRCm39)	missense	probably damaging	0.98
R8167:Catsperb	UTSW	12	101,557,714 (GRCm39)	missense	probably benign	0.00
R8323:Catsperb	UTSW	12	101,375,658 (GRCm39)	missense	probably benign	0.02
R8425:Catsperb	UTSW	12	101,569,028 (GRCm39)	missense	probably benign
R8547:Catsperb	UTSW	12	101,412,305 (GRCm39)	missense	probably damaging	1.00
R8671:Catsperb	UTSW	12	101,560,596 (GRCm39)	missense	possibly damaging	0.70
R8906:Catsperb	UTSW	12	101,486,904 (GRCm39)	missense	possibly damaging	0.92
R9227:Catsperb	UTSW	12	101,516,053 (GRCm39)	missense	probably benign
R9230:Catsperb	UTSW	12	101,516,053 (GRCm39)	missense	probably benign
R9298:Catsperb	UTSW	12	101,560,600 (GRCm39)	missense	possibly damaging	0.91
RF006:Catsperb	UTSW	12	101,542,238 (GRCm39)	critical splice donor site	probably null
Z1177:Catsperb	UTSW	12	101,412,307 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCATTCAGTATTTCGGAAATGAC -3'
(R):5'- GGGACCTTGACTCATAGAGC -3'

Sequencing Primer
(F):5'- TCGGAAATGACTTTGCTAAAGAG -3'
(R):5'- GGACCTTGACTCATAGAGCTCACC -3'

Posted On

2018-11-28