Mutagenetix > Incidental Mutation

Incidental Mutation 'R8021:Catsperb'

617388

Institutional Source

Beutler Lab

Gene Symbol

Catsperb

Ensembl Gene

ENSMUSG00000047014

Gene Name

cation channel sperm associated auxiliary subunit beta

Synonyms

4932415G16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R8021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101404653-101626009 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 101588063 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 672 (N672T)

Ref Sequence

ENSEMBL: ENSMUSP00000052089 (fasta)

Gene Model

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

AlphaFold

A2RTF1

Predicted Effect

probably benign
Transcript: ENSMUST00000055156
AA Change: N672T

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: N672T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	A	G	11: 107,025,927	I12V	unknown	Het
9130011E15Rik	C	T	19: 45,956,741		probably null	Het
A630010A05Rik	C	T	16: 14,589,246	T13I		Het
Acsm5	A	G	7: 119,542,393	E537G	possibly damaging	Het
Adam25	C	A	8: 40,754,759	A354E	probably damaging	Het
Adamts3	T	C	5: 89,683,184	K1004E	possibly damaging	Het
Ap3d1	C	A	10: 80,714,301	V699L	probably benign	Het
Arel1	T	G	12: 84,934,958	H216P	possibly damaging	Het
Armc12	T	A	17: 28,530,905	F8I	probably benign	Het
Ascc3	T	A	10: 50,731,648	M1416K	probably benign	Het
Ccdc30	T	C	4: 119,352,679	H291R	probably benign	Het
Cd33	A	G	7: 43,528,838	V371A	unknown	Het
Cpt1b	A	T	15: 89,421,426	M362K	probably benign	Het
Dusp5	T	A	19: 53,529,498	S61T	probably benign	Het
Eogt	T	G	6: 97,134,330	D190A	probably damaging	Het
Fat3	T	A	9: 15,999,109	I1866F	probably damaging	Het
Fer1l4	T	A	2: 156,022,591	I1668F	probably damaging	Het
Foxn3	A	T	12: 99,388,902	M1K	probably null	Het
Frs3	T	A	17: 47,703,114	V244E	probably damaging	Het
Gm8765	A	G	13: 50,701,094	N256S	possibly damaging	Het
Grik1	C	T	16: 87,914,222	V832I		Het
Gtf2ird2	T	A	5: 134,203,334	V242E	probably benign	Het
Gtpbp2	C	T	17: 46,164,269	R97C	possibly damaging	Het
Habp2	T	A	19: 56,314,053	V263E	probably benign	Het
Iars2	T	A	1: 185,322,457	I337L	probably benign	Het
Ifi204	T	C	1: 173,759,353		probably benign	Het
Itih2	T	C	2: 10,105,652	T543A	probably benign	Het
Kdm2b	A	G	5: 122,932,919	S372P	probably damaging	Het
Kit	T	A	5: 75,615,491	V311E	possibly damaging	Het
Kmt2c	C	G	5: 25,287,119	V4230L	possibly damaging	Het
Lao1	T	C	4: 118,968,477	I498T	probably damaging	Het
Lrp1	G	T	10: 127,548,346	D3641E	possibly damaging	Het
Mapk8ip1	A	T	2: 92,386,415	S477T	possibly damaging	Het
Mast3	C	T	8: 70,788,252	G218S	probably benign	Het
Mical1	T	C	10: 41,482,724	V546A	probably damaging	Het
Nck2	T	C	1: 43,554,260	V209A	probably benign	Het
Ndufs4	A	G	13: 114,307,815		probably null	Het
Nek3	C	T	8: 22,157,190	V139M	probably damaging	Het
Olfr1417	T	C	19: 11,828,892	I45V	probably benign	Het
Olfr863-ps1	A	C	9: 19,942,079	Y120*	probably null	Het
Olfr877	T	A	9: 37,855,296	H159Q	probably damaging	Het
Olfr994	A	T	2: 85,430,652	M59K	probably damaging	Het
Otog	A	T	7: 46,267,342	N901I	probably damaging	Het
Pclo	A	C	5: 14,539,784	Q699H	unknown	Het
Pcnx	C	T	12: 81,918,819	R59*	probably null	Het
Pde12	A	T	14: 26,665,699	Y551*	probably null	Het
Pigg	A	G	5: 108,319,939	D268G	probably damaging	Het
Ppp1r21	A	G	17: 88,549,507	D130G	probably benign	Het
Psip1	T	C	4: 83,459,955	T435A	possibly damaging	Het
Rad54l2	T	C	9: 106,719,641	S189G	probably benign	Het
Rgs14	T	C	13: 55,383,756	C498R	probably damaging	Het
Ripply3	C	A	16: 94,328,510	A5E	probably benign	Het
Rps6ka4	T	C	19: 6,830,409	D676G	probably benign	Het
Rsbn1	T	C	3: 103,928,582	L312S	possibly damaging	Het
Secisbp2	T	A	13: 51,665,628	*415R	probably null	Het
Sephs1	T	A	2: 4,906,623	F336Y	probably benign	Het
Setdb2	A	T	14: 59,423,384	Y103*	probably null	Het
Slit2	T	A	5: 48,302,492	C1371*	probably null	Het
Stab2	C	T	10: 86,905,539	A1239T	possibly damaging	Het
Taf4b	T	A	18: 14,804,524	V218E	probably damaging	Het
Tars2	T	C	3: 95,747,514	N393S	probably benign	Het
Tbc1d30	A	G	10: 121,267,543	M528T	probably benign	Het
Tchp	A	G	5: 114,718,417	E363G	probably damaging	Het
Tec	T	A	5: 72,757,469	N568I	probably benign	Het
Ticam1	A	G	17: 56,270,089	S669P	unknown	Het
Tnk1	A	G	11: 69,854,984	S372P	probably benign	Het
Tnpo2	G	A	8: 85,055,206	A847T	probably damaging	Het
Tsc1	A	T	2: 28,686,889	I1068F	possibly damaging	Het
Ttc14	T	A	3: 33,809,121	Y559*	probably null	Het
Ttc41	C	A	10: 86,733,714	T652N	probably benign	Het
Tut1	T	A	19: 8,955,509	S69T	probably benign	Het
Uck1	T	C	2: 32,259,917	S40G	probably benign	Het
Vmn2r76	G	A	7: 86,225,750	T673I	probably damaging	Het
Vps13d	G	T	4: 145,148,675	P1760H		Het
Zbp1	T	C	2: 173,209,210	N289S	possibly damaging	Het
Zc3hav1l	C	A	6: 38,297,947		probably benign	Het
Zzef1	A	T	11: 72,823,416	D244V	probably damaging	Het

Other mutations in Catsperb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00532:Catsperb	APN	12	101463119	missense	probably damaging	1.00
IGL00580:Catsperb	APN	12	101591529	missense	probably benign	0.01
IGL00661:Catsperb	APN	12	101588098	missense	probably damaging	1.00
IGL00979:Catsperb	APN	12	101415325	missense	probably benign	0.34
IGL01154:Catsperb	APN	12	101625681	missense	possibly damaging	0.79
IGL01360:Catsperb	APN	12	101625254	missense	probably damaging	1.00
IGL01607:Catsperb	APN	12	101480726	splice site	probably benign
IGL01679:Catsperb	APN	12	101591582	splice site	probably null
IGL01827:Catsperb	APN	12	101591540	missense	probably benign	0.00
IGL01866:Catsperb	APN	12	101509311	nonsense	probably null
IGL02161:Catsperb	APN	12	101409415	splice site	probably benign
IGL02177:Catsperb	APN	12	101541462	missense	probably damaging	1.00
IGL02618:Catsperb	APN	12	101480724	splice site	probably benign
IGL02721:Catsperb	APN	12	101625297	missense	probably null	1.00
IGL02828:Catsperb	APN	12	101480782	missense	probably benign	0.00
BB001:Catsperb	UTSW	12	101520565	missense	probably benign	0.02
BB011:Catsperb	UTSW	12	101520565	missense	probably benign	0.02
R0571:Catsperb	UTSW	12	101602774	missense	possibly damaging	0.72
R0727:Catsperb	UTSW	12	101594355	splice site	probably null
R0842:Catsperb	UTSW	12	101463048	missense	probably damaging	1.00
R1187:Catsperb	UTSW	12	101625732	missense	probably benign	0.07
R1432:Catsperb	UTSW	12	101622217	missense	probably damaging	1.00
R1449:Catsperb	UTSW	12	101588197	missense	probably benign	0.09
R1488:Catsperb	UTSW	12	101594267	missense	probably damaging	0.97
R1540:Catsperb	UTSW	12	101412330	missense	probably benign	0.02
R1560:Catsperb	UTSW	12	101625726	missense	probably benign	0.01
R1563:Catsperb	UTSW	12	101588102	missense	probably damaging	1.00
R1583:Catsperb	UTSW	12	101463114	missense	probably damaging	0.96
R1989:Catsperb	UTSW	12	101602711	missense	probably damaging	1.00
R1993:Catsperb	UTSW	12	101602767	missense	possibly damaging	0.86
R1995:Catsperb	UTSW	12	101602767	missense	possibly damaging	0.86
R2037:Catsperb	UTSW	12	101507962	missense	probably damaging	1.00
R2186:Catsperb	UTSW	12	101480782	missense	probably benign	0.00
R2217:Catsperb	UTSW	12	101594219	missense	probably damaging	0.99
R2391:Catsperb	UTSW	12	101624706	missense	probably damaging	1.00
R2679:Catsperb	UTSW	12	101463145	missense	probably damaging	1.00
R3848:Catsperb	UTSW	12	101509326	missense	probably damaging	0.98
R4023:Catsperb	UTSW	12	101602683	nonsense	probably null
R4507:Catsperb	UTSW	12	101480828	critical splice donor site	probably null
R4558:Catsperb	UTSW	12	101591540	missense	possibly damaging	0.94
R4649:Catsperb	UTSW	12	101541512	missense	probably benign	0.01
R4651:Catsperb	UTSW	12	101541512	missense	probably benign	0.01
R4866:Catsperb	UTSW	12	101507949	missense	probably damaging	1.00
R4873:Catsperb	UTSW	12	101587985	missense	possibly damaging	0.90
R4875:Catsperb	UTSW	12	101587985	missense	possibly damaging	0.90
R4897:Catsperb	UTSW	12	101602766	missense	probably damaging	0.98
R5002:Catsperb	UTSW	12	101520554	missense	probably benign
R5137:Catsperb	UTSW	12	101549811	missense	probably damaging	0.96
R5396:Catsperb	UTSW	12	101594284	missense	possibly damaging	0.90
R5450:Catsperb	UTSW	12	101446068	missense	possibly damaging	0.92
R5484:Catsperb	UTSW	12	101575916	missense	probably benign	0.38
R5846:Catsperb	UTSW	12	101602766	missense	probably damaging	0.98
R5905:Catsperb	UTSW	12	101602700	missense	possibly damaging	0.69
R5906:Catsperb	UTSW	12	101510462	missense	probably damaging	1.00
R6034:Catsperb	UTSW	12	101575832	missense	probably benign
R6034:Catsperb	UTSW	12	101575832	missense	probably benign
R6149:Catsperb	UTSW	12	101549839	missense	probably damaging	1.00
R6165:Catsperb	UTSW	12	101575816	missense	possibly damaging	0.90
R6210:Catsperb	UTSW	12	101412568	splice site	probably null
R6297:Catsperb	UTSW	12	101591396	splice site	probably null
R6302:Catsperb	UTSW	12	101588143	missense	possibly damaging	0.95
R6681:Catsperb	UTSW	12	101624735	nonsense	probably null
R6698:Catsperb	UTSW	12	101509207	missense	probably damaging	1.00
R6869:Catsperb	UTSW	12	101480737	missense	probably benign	0.09
R6948:Catsperb	UTSW	12	101481068	missense	probably benign	0.00
R7035:Catsperb	UTSW	12	101415334	missense	probably damaging	1.00
R7073:Catsperb	UTSW	12	101509238	missense	probably benign	0.09
R7100:Catsperb	UTSW	12	101446038	missense	possibly damaging	0.83
R7338:Catsperb	UTSW	12	101480984	missense	probably benign	0.08
R7397:Catsperb	UTSW	12	101588023	missense	possibly damaging	0.84
R7413:Catsperb	UTSW	12	101481048	missense	probably damaging	1.00
R7422:Catsperb	UTSW	12	101588034	missense	probably damaging	1.00
R7425:Catsperb	UTSW	12	101591498	missense	probably damaging	0.96
R7578:Catsperb	UTSW	12	101588285	missense	probably benign	0.01
R7924:Catsperb	UTSW	12	101520565	missense	probably benign	0.02
R8060:Catsperb	UTSW	12	101602766	missense	probably damaging	0.98
R8167:Catsperb	UTSW	12	101591455	missense	probably benign	0.00
R8323:Catsperb	UTSW	12	101409399	missense	probably benign	0.02
R8425:Catsperb	UTSW	12	101602769	missense	probably benign
R8547:Catsperb	UTSW	12	101446046	missense	probably damaging	1.00
R8671:Catsperb	UTSW	12	101594337	missense	possibly damaging	0.70
R8906:Catsperb	UTSW	12	101520645	missense	possibly damaging	0.92
R9227:Catsperb	UTSW	12	101549794	missense	probably benign
R9230:Catsperb	UTSW	12	101549794	missense	probably benign
R9298:Catsperb	UTSW	12	101594341	missense	possibly damaging	0.91
RF006:Catsperb	UTSW	12	101575979	critical splice donor site	probably null
Z1177:Catsperb	UTSW	12	101446048	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAAATGTTCTGAGGCTATGATC -3'
(R):5'- CAATCAGGGAGCCACATTGAATATC -3'

Sequencing Primer
(F):5'- GTTAATTATGATCACAGTTGCTT -3'
(R):5'- AGCAAGCTTACCTTTTGGAATAATC -3'

Posted On

2020-01-23