Mutagenetix > Incidental Mutation

Incidental Mutation 'R6165:Catsperb'

490104

Institutional Source

Beutler Lab

Gene Symbol

Catsperb

Ensembl Gene

ENSMUSG00000047014

Gene Name

cation channel sperm associated auxiliary subunit beta

Synonyms

4932415G16Rik

MMRRC Submission

044311-MU

Accession Numbers

Essential gene?

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

Stock #

R6165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101370912-101592268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101542075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 592 (Y592N)

Ref Sequence

ENSEMBL: ENSMUSP00000052089 (fasta)

Gene Model

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

AlphaFold

A2RTF1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055156
AA Change: Y592N

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: Y592N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221965

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.1%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	G	3: 96,590,623 (GRCm39)	E303G	possibly damaging	Het
Atosa	A	G	9: 74,932,954 (GRCm39)	T974A	probably damaging	Het
C2cd5	T	C	6: 142,995,954 (GRCm39)	T389A	possibly damaging	Het
Cfap91	A	G	16: 38,154,173 (GRCm39)	F124S	possibly damaging	Het
Cnot9	T	C	1: 74,567,952 (GRCm39)	V280A	probably benign	Het
Cyld	A	G	8: 89,473,561 (GRCm39)	I927V	possibly damaging	Het
Etfdh	A	T	3: 79,512,251 (GRCm39)	S490T	probably benign	Het
Fance	C	T	17: 28,545,068 (GRCm39)	R150C	probably benign	Het
Far1	A	G	7: 113,153,425 (GRCm39)	K353E	probably benign	Het
Fbn1	T	C	2: 125,174,283 (GRCm39)	I1858V	probably damaging	Het
Frem1	T	C	4: 82,874,492 (GRCm39)	K1359E	probably benign	Het
Ghdc	T	G	11: 100,659,928 (GRCm39)	E273A	possibly damaging	Het
Gpt	A	G	15: 76,582,170 (GRCm39)	D209G	probably benign	Het
Hspb7	T	C	4: 141,149,862 (GRCm39)	F83L	probably benign	Het
Itga7	A	G	10: 128,778,804 (GRCm39)	I306M	probably benign	Het
Itgb5	A	G	16: 33,719,612 (GRCm39)	E261G	probably benign	Het
Kcnj14	G	T	7: 45,469,424 (GRCm39)	A27E	possibly damaging	Het
Kif13b	A	G	14: 64,979,760 (GRCm39)	H470R	probably damaging	Het
Macroh2a1	A	T	13: 56,252,268 (GRCm39)	N108K	probably damaging	Het
Morc3	T	C	16: 93,638,271 (GRCm39)	F18L	probably damaging	Het
Mrgprb8	T	A	7: 48,038,565 (GRCm39)	C79S	possibly damaging	Het
Mroh2b	T	A	15: 4,947,832 (GRCm39)	M549K	probably benign	Het
Msl1	T	C	11: 98,695,673 (GRCm39)	V563A	probably damaging	Het
Nwd1	C	T	8: 73,388,814 (GRCm39)	R81W	probably damaging	Het
Or5b124	A	T	19: 13,610,507 (GRCm39)	I11F	possibly damaging	Het
Or5b124	C	T	19: 13,610,952 (GRCm39)	A159V	probably benign	Het
Phf2	C	A	13: 48,967,341 (GRCm39)		probably null	Het
Pjvk	T	G	2: 76,480,562 (GRCm39)		probably null	Het
Rgl2	A	G	17: 34,150,739 (GRCm39)	T66A	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rtkn	G	T	6: 83,122,944 (GRCm39)	E67D	probably damaging	Het
Serpinb9	T	A	13: 33,192,807 (GRCm39)	F121L	possibly damaging	Het
Slc34a1	G	A	13: 23,999,053 (GRCm39)	V149I	probably benign	Het
Sobp	A	G	10: 42,898,599 (GRCm39)	S329P	probably damaging	Het
Syne1	A	T	10: 5,375,678 (GRCm39)	L138Q	probably damaging	Het
Tfr2	T	A	5: 137,578,519 (GRCm39)	V449D	probably damaging	Het
Tmem151b	T	C	17: 45,856,711 (GRCm39)	Y243C	probably damaging	Het
Trank1	T	C	9: 111,220,940 (GRCm39)	V2559A	probably benign	Het
Trim35	T	C	14: 66,546,654 (GRCm39)	Y474H	probably damaging	Het
Uso1	A	T	5: 92,335,126 (GRCm39)	L495F	probably damaging	Het
Wdr24	A	G	17: 26,045,395 (GRCm39)	I377V	probably benign	Het
Xpo5	T	A	17: 46,546,883 (GRCm39)	V878D	possibly damaging	Het
Zfc3h1	A	G	10: 115,256,574 (GRCm39)	I1515V	probably benign	Het
Zfp319	CA	C	8: 96,054,733 (GRCm39)	489	probably null	Het
Zfp384	T	G	6: 125,001,896 (GRCm39)		probably null	Het
Zfp704	G	T	3: 9,508,946 (GRCm39)	P416T	probably benign	Het
Zfr	C	T	15: 12,146,331 (GRCm39)	A294V	unknown	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
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
R6948:Catsperb	UTSW	12	101,447,327 (GRCm39)	missense	probably benign	0.00
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'- AACCTTCATGATCTCCAGCACT -3'
(R):5'- TTGAAGCCAATGGAGATAGGTT -3'

Sequencing Primer
(F):5'- TGATCTCCAGCACTAAACGATGATAG -3'
(R):5'- AACAAGGGCTGTCCTTT -3'

Posted On

2017-10-10