Mutagenetix > Incidental Mutation

Incidental Mutation 'R4940:Catsperd'

383045

Institutional Source

Beutler Lab

Gene Symbol

Catsperd

Ensembl Gene

ENSMUSG00000040828

Gene Name

cation channel sperm associated auxiliary subunit delta

Synonyms

4933402B14Rik, 4921529N20Rik, Gm6095, Tmem146

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R4940 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56628143-56664456 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56662736 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 610 (Y610F)

Ref Sequence

ENSEMBL: ENSMUSP00000108603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112979]

AlphaFold

E9Q9F6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112979
AA Change: Y610F

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108603
Gene: ENSMUSG00000040828
AA Change: Y610F

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:CATSPERD	38	766	N/A	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a deletion in this gene display male infertility. Hyperactivity of sperm fails to develop under capacitating conditions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	G	5: 98,737,636	H134R	possibly damaging	Het
3632451O06Rik	A	T	14: 49,773,482	M256K	probably benign	Het
4931414P19Rik	T	C	14: 54,591,325	T240A	probably benign	Het
Abca15	T	C	7: 120,332,694	Y57H	probably benign	Het
Adgrf4	A	G	17: 42,666,529	I641T	possibly damaging	Het
Ankrd11	A	G	8: 122,889,821	Y2410H	probably damaging	Het
Apbb2	C	A	5: 66,452,261	L14F	probably null	Het
Arhgdia	T	C	11: 120,579,235	D204G	probably damaging	Het
Cblb	T	A	16: 52,033,103	D27E	probably damaging	Het
Ccdc180	A	T	4: 45,917,453	I893F	probably damaging	Het
Ccdc180	A	G	4: 45,917,508	H911R	probably damaging	Het
Cdh23	T	A	10: 60,307,935	I2966F	probably damaging	Het
Chat	G	A	14: 32,419,105	P445L	probably damaging	Het
Chdh	G	T	14: 30,032,852	R273L	possibly damaging	Het
Clic3	T	C	2: 25,457,917	V72A	probably benign	Het
Cyp2d12	T	A	15: 82,558,050	D244E	probably benign	Het
Ddr1	T	A	17: 35,690,130	D241V	probably damaging	Het
Dock7	T	A	4: 99,020,077	K605N	probably damaging	Het
Dsg2	T	A	18: 20,579,430	F164I	probably damaging	Het
Dstyk	T	A	1: 132,453,106	N446K	probably damaging	Het
Epb42	A	T	2: 121,034,451	L53Q	probably damaging	Het
Extl2	G	C	3: 116,027,192	K229N	probably benign	Het
Frmd4b	T	A	6: 97,298,090	S617C	probably damaging	Het
Fscb	C	T	12: 64,473,814	V293I	probably benign	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gm4978	A	C	9: 69,450,872		probably benign	Het
Gm6729	A	G	10: 86,540,388		noncoding transcript	Het
Gnat2	A	C	3: 108,100,616	N293T	probably benign	Het
Herpud1	T	C	8: 94,390,842	I142T	probably benign	Het
Irak2	G	A	6: 113,693,730	V536I	probably benign	Het
Kcnu1	A	T	8: 25,897,862		probably null	Het
Kdm4a	A	G	4: 118,161,754	S422P	probably benign	Het
Lair1	T	A	7: 4,028,949	D53V	probably benign	Het
Lhx1	G	T	11: 84,519,909	Y196*	probably null	Het
Lrrc37a	G	A	11: 103,497,612	T2329I	unknown	Het
Mag	T	C	7: 30,909,200	D163G	probably damaging	Het
Magi3	A	G	3: 104,051,392	V459A	probably damaging	Het
Med13	A	G	11: 86,288,118	Y1451H	probably damaging	Het
Megf8	T	A	7: 25,360,706	C2341S	probably damaging	Het
Mppe1	A	G	18: 67,228,024	C221R	probably damaging	Het
Mtus1	T	A	8: 41,041,478	H39L	possibly damaging	Het
Nkpd1	C	T	7: 19,523,573	Q276*	probably null	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Nutm2	T	C	13: 50,474,873	C658R	possibly damaging	Het
Olfm1	T	C	2: 28,222,590	V239A	possibly damaging	Het
Pcnx	C	T	12: 81,917,793	H245Y	possibly damaging	Het
Pgm3	A	G	9: 86,559,476	L356S	probably damaging	Het
Pik3r4	C	G	9: 105,668,994	H207D	probably benign	Het
Pkd1l1	T	C	11: 8,844,585	T1859A	probably benign	Het
Pon3	A	T	6: 5,221,625	V335E	possibly damaging	Het
Ppp4r3b	A	G	11: 29,211,740	T705A	probably benign	Het
Prmt7	T	C	8: 106,237,278	V268A	probably benign	Het
Psd	C	T	19: 46,322,417	G398R	probably damaging	Het
Pygl	A	G	12: 70,206,381	V188A	probably damaging	Het
Rnf13	T	A	3: 57,796,206	N110K	probably damaging	Het
Rnf170	C	T	8: 26,125,911	Q77*	probably null	Het
Rrp8	A	T	7: 105,734,077	Y327*	probably null	Het
Ruvbl2	T	C	7: 45,424,726	D228G	probably damaging	Het
Scgn	T	A	13: 23,989,824	T35S	probably benign	Het
Scyl3	C	T	1: 163,934,747	P74S	probably damaging	Het
Sec61b	T	G	4: 47,483,074	S123A	probably benign	Het
Sertad2	T	C	11: 20,647,899	S32P	possibly damaging	Het
Slc23a3	T	C	1: 75,133,803		probably null	Het
Sult2a2	T	G	7: 13,738,298	V140G	probably benign	Het
Tbc1d4	A	T	14: 101,507,231	S320T	probably benign	Het
Trabd2b	T	C	4: 114,408,944	Y52H	probably damaging	Het
Traf2	T	C	2: 25,530,288	E183G	probably null	Het
Trip10	G	T	17: 57,263,017	V561F	possibly damaging	Het
Ttc7	G	T	17: 87,306,958	V184F	probably benign	Het
Ubc	A	G	5: 125,386,229	V678A	probably benign	Het
Unk	A	G	11: 116,053,665	E414G	possibly damaging	Het
Usp42	T	C	5: 143,719,762	N365D	probably damaging	Het
Zbtb26	A	T	2: 37,436,769	I85K	probably damaging	Het
Zfhx2	A	T	14: 55,066,434	H1364Q	possibly damaging	Het

Other mutations in Catsperd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02514:Catsperd	APN	17	56661271	missense	probably damaging	0.98
IGL02598:Catsperd	APN	17	56647815	splice site	probably null
IGL03037:Catsperd	APN	17	56641583	missense	possibly damaging	0.80
IGL03330:Catsperd	APN	17	56632316	missense	possibly damaging	0.45
R0391:Catsperd	UTSW	17	56662821	missense	probably benign	0.00
R0463:Catsperd	UTSW	17	56659554	missense	probably damaging	0.99
R0506:Catsperd	UTSW	17	56658078	missense	possibly damaging	0.95
R0538:Catsperd	UTSW	17	56662828	missense	probably benign	0.00
R0550:Catsperd	UTSW	17	56663427	critical splice donor site	probably null
R1503:Catsperd	UTSW	17	56654525	missense	possibly damaging	0.63
R1705:Catsperd	UTSW	17	56633521	missense	probably damaging	0.97
R1919:Catsperd	UTSW	17	56635548	missense	probably damaging	0.99
R2851:Catsperd	UTSW	17	56660169	critical splice acceptor site	probably null
R2852:Catsperd	UTSW	17	56660169	critical splice acceptor site	probably null
R3147:Catsperd	UTSW	17	56664039	missense	possibly damaging	0.86
R3148:Catsperd	UTSW	17	56664039	missense	possibly damaging	0.86
R4084:Catsperd	UTSW	17	56654453	missense	probably benign	0.14
R4329:Catsperd	UTSW	17	56654517	missense	possibly damaging	0.80
R4944:Catsperd	UTSW	17	56662744	missense	probably damaging	0.97
R4952:Catsperd	UTSW	17	56632303	missense	probably damaging	0.99
R5079:Catsperd	UTSW	17	56658153	critical splice donor site	probably null
R5259:Catsperd	UTSW	17	56660235	missense	possibly damaging	0.93
R5635:Catsperd	UTSW	17	56632335	missense	possibly damaging	0.95
R5929:Catsperd	UTSW	17	56652493	missense	probably benign	0.00
R6789:Catsperd	UTSW	17	56654426	splice site	probably null
R6909:Catsperd	UTSW	17	56650781	missense	probably damaging	0.96
R6920:Catsperd	UTSW	17	56655175	nonsense	probably null
R7099:Catsperd	UTSW	17	56628811	splice site	probably null
R7106:Catsperd	UTSW	17	56658070	splice site	probably null
R7371:Catsperd	UTSW	17	56650801	missense	probably benign	0.22
R7405:Catsperd	UTSW	17	56632335	missense	possibly damaging	0.95
R7478:Catsperd	UTSW	17	56664055	missense	probably benign	0.00
R7781:Catsperd	UTSW	17	56664072	missense	probably benign	0.00
R7918:Catsperd	UTSW	17	56631564	missense	probably benign	0.06
R7981:Catsperd	UTSW	17	56631562	missense	possibly damaging	0.85
R8200:Catsperd	UTSW	17	56632368	critical splice donor site	probably null
R8487:Catsperd	UTSW	17	56663419	missense	probably damaging	1.00
R8974:Catsperd	UTSW	17	56652525	missense	possibly damaging	0.45
R9025:Catsperd	UTSW	17	56655156	missense	probably damaging	0.98
R9179:Catsperd	UTSW	17	56661252	missense	probably benign	0.00
R9180:Catsperd	UTSW	17	56661252	missense	probably benign	0.00
R9185:Catsperd	UTSW	17	56661252	missense	probably benign	0.00
R9200:Catsperd	UTSW	17	56628229	missense	unknown
R9328:Catsperd	UTSW	17	56658074	missense	possibly damaging	0.51
R9419:Catsperd	UTSW	17	56651821	missense	probably benign	0.00
R9443:Catsperd	UTSW	17	56662720	missense	possibly damaging	0.95
R9575:Catsperd	UTSW	17	56628231	missense	unknown
R9617:Catsperd	UTSW	17	56661252	missense	probably benign	0.00
R9663:Catsperd	UTSW	17	56653751	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GAGTGTCCTCCAGTCAAGATG -3'
(R):5'- GGCCTCAAACTTGCTCTTCAG -3'

Sequencing Primer
(F):5'- GTCAAGATGACCCCGTCAG -3'
(R):5'- TCCAACACCACAGGGATATGATGG -3'

Posted On

2016-04-27