Mutagenetix > Incidental Mutation

Incidental Mutation 'R1932:Catsperg1'

215468

Institutional Source

Beutler Lab

Gene Symbol

Catsperg1

Ensembl Gene

ENSMUSG00000049676

Gene Name

cation channel sperm associated auxiliary subunit gamma 1

Synonyms

A230107C01Rik, Catsperg

MMRRC Submission

039950-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29181321-29214035 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 29198143 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 239 (G239R)

Ref Sequence

ENSEMBL: ENSMUSP00000131827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047846] [ENSMUST00000069861] [ENSMUST00000163782] [ENSMUST00000164653] [ENSMUST00000169143]

AlphaFold

E9Q355

Predicted Effect

probably benign
Transcript: ENSMUST00000047846
AA Change: G426R

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000045233
Gene: ENSMUSG00000049676
AA Change: G426R

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	1	920	N/A	PFAM
transmembrane domain	1012	1034	N/A	INTRINSIC
low complexity region	1058	1073	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000069861

SMART Domains

Protein: ENSMUSP00000067388
Gene: ENSMUSG00000049676

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	1	57	7.9e-14	PFAM
Pfam:CATSPERG	73	205	7e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000085819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163445

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163614

Predicted Effect

probably benign
Transcript: ENSMUST00000163782

SMART Domains

Protein: ENSMUSP00000127409
Gene: ENSMUSG00000049676

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	1	93	1.7e-52	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164653
AA Change: G239R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131827
Gene: ENSMUSG00000049676
AA Change: G239R

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	1	111	1.4e-44	PFAM
Pfam:CATSPERG	108	334	8.5e-93	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165907

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166654

Predicted Effect

probably benign
Transcript: ENSMUST00000169143
AA Change: G426R

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000129837
Gene: ENSMUSG00000049676
AA Change: G426R

Domain	Start	End	E-Value	Type
Pfam:CATSPERG	2	973	N/A	PFAM
transmembrane domain	1065	1087	N/A	INTRINSIC
low complexity region	1111	1126	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172226

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,279,394	Q278H	probably benign	Het
Ace3	T	C	11: 106,004,610		probably null	Het
Aco1	T	C	4: 40,176,499	V221A	probably damaging	Het
Adamts20	T	A	15: 94,404,010	H27L	probably benign	Het
Adamts8	A	G	9: 30,956,512	D544G	probably benign	Het
Angptl4	C	A	17: 33,781,275	E40*	probably null	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atf7ip2	T	A	16: 10,241,703	I369N	possibly damaging	Het
Atp6ap1l	T	A	13: 90,883,687	Y292F	probably damaging	Het
Atp6v1b2	A	T	8: 69,102,807	K217*	probably null	Het
Bid	C	T	6: 120,897,255	A110T	possibly damaging	Het
Blvra	T	A	2: 127,095,148	W174R	probably damaging	Het
Ccdc157	G	T	11: 4,146,549	A400D	probably damaging	Het
Chd2	G	T	7: 73,454,445	P1298T	probably damaging	Het
CK137956	G	A	4: 127,946,858	L352F	possibly damaging	Het
Col22a1	G	A	15: 71,870,140	P503S	unknown	Het
Cox15	C	T	19: 43,746,785	R181H	probably benign	Het
Crem	C	T	18: 3,299,284	G47R	probably benign	Het
Crygs	T	A	16: 22,806,554	T46S	probably benign	Het
Cts8	T	A	13: 61,253,615	H62L	probably damaging	Het
Cyp4a32	T	A	4: 115,611,277	F319I	possibly damaging	Het
Dchs1	T	C	7: 105,765,902	S692G	probably damaging	Het
Ddx23	G	A	15: 98,650,718	R370W	possibly damaging	Het
Defa29	A	T	8: 21,326,849	S43T	probably damaging	Het
Dnajc14	A	G	10: 128,816,792	D573G	probably damaging	Het
Drd5	A	G	5: 38,319,976	Y104C	probably benign	Het
Efcab7	C	T	4: 99,911,018	P102L	probably damaging	Het
Efhc1	A	G	1: 20,967,400	Y267C	probably damaging	Het
Eif2ak4	T	C	2: 118,448,486	Y243H	probably damaging	Het
Gfm2	T	A	13: 97,141,967	I7N	probably damaging	Het
Gmds	A	G	13: 32,127,997	F150L	possibly damaging	Het
Gp2	T	C	7: 119,454,232	T169A	possibly damaging	Het
Grb14	A	G	2: 64,912,802	F508L	probably damaging	Het
Hdac5	T	A	11: 102,195,872		probably benign	Het
Heatr1	T	A	13: 12,435,185	M620K	probably damaging	Het
Herc3	A	G	6: 58,876,793	E608G	probably damaging	Het
Hoxb4	T	C	11: 96,320,041	Y156H	probably damaging	Het
Ifi205	T	A	1: 174,028,414	I17F	possibly damaging	Het
Il2rb	A	T	15: 78,491,777	S25T	possibly damaging	Het
Kansl1	T	C	11: 104,335,097	T998A	probably damaging	Het
Kcna6	G	T	6: 126,738,488	H479Q	probably benign	Het
Kif2a	T	C	13: 106,978,091	K350R	probably benign	Het
Lct	G	T	1: 128,294,161	A1547E	probably damaging	Het
Lhx9	T	A	1: 138,842,009		probably benign	Het
Lingo1	T	A	9: 56,619,650	I552F	possibly damaging	Het
Lrp4	G	A	2: 91,497,355	W1516*	probably null	Het
Lrp5	C	T	19: 3,610,131	V978I	probably benign	Het
Ltbp1	T	A	17: 75,313,034	D719E	probably benign	Het
Ltbp4	A	G	7: 27,307,766		probably null	Het
Macf1	A	G	4: 123,452,037	I1326T	probably damaging	Het
Manba	T	C	3: 135,544,740	F376S	probably benign	Het
Mink1	T	C	11: 70,608,428		probably null	Het
Nfatc2ip	C	T	7: 126,384,992	V410I	probably damaging	Het
Nlrp1b	A	T	11: 71,182,138	I293N	probably damaging	Het
Olfr432	T	C	1: 174,050,678	Y102H	probably damaging	Het
Otol1	A	C	3: 70,028,104	E476D	probably benign	Het
Pcdhb4	C	T	18: 37,309,541	P635S	probably benign	Het
Pfkfb4	T	A	9: 108,999,169	F91I	probably damaging	Het
Polq	G	A	16: 37,062,304	R1610Q	possibly damaging	Het
Polr3c	A	T	3: 96,719,298	L270H	probably damaging	Het
Ppp1r15b	C	T	1: 133,131,625		probably benign	Het
Prkca	T	G	11: 108,192,149	D90A	probably benign	Het
Sall3	T	C	18: 80,969,753	D1156G	probably benign	Het
Scn7a	A	T	2: 66,676,102	L1481H	probably damaging	Het
Selenon	A	T	4: 134,544,618	I292N	probably damaging	Het
Sema6d	T	A	2: 124,659,886		probably null	Het
Sgpp1	G	T	12: 75,716,179	Y409*	probably null	Het
Sh3pxd2a	A	G	19: 47,267,508	S924P	probably benign	Het
Slc25a13	A	G	6: 6,042,264	V638A	probably benign	Het
Snhg11	T	C	2: 158,376,826		probably benign	Het
Sorbs2	A	G	8: 45,796,352	Q800R	probably benign	Het
Srf	C	A	17: 46,549,986	G401C	probably damaging	Het
Stradb	A	C	1: 58,991,105	N173H	probably benign	Het
Swap70	C	T	7: 110,279,263	A480V	possibly damaging	Het
Sycp2	A	G	2: 178,381,957	V422A	probably damaging	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tet3	T	C	6: 83,404,379	N269S	possibly damaging	Het
Thap12	A	T	7: 98,716,838	I738F	possibly damaging	Het
Tiam2	C	T	17: 3,514,725	R1413C	possibly damaging	Het
Tmem229a	A	T	6: 24,955,011	F248Y	probably damaging	Het
Tmprss7	G	A	16: 45,684,593	Q145*	probably null	Het
Tnc	A	T	4: 63,993,025		probably null	Het
Tonsl	A	T	15: 76,624,597	Y21N	probably damaging	Het
Tpr	A	G	1: 150,421,663	D1009G	probably benign	Het
Trpm2	G	A	10: 77,941,158	A435V	probably damaging	Het
Ubr3	T	A	2: 69,953,476		probably null	Het
Vcan	T	C	13: 89,705,534	N436D	possibly damaging	Het
Vmn2r104	T	A	17: 20,040,769	Y464F	probably damaging	Het
Vmn2r44	T	A	7: 8,367,982	R688S	probably benign	Het
Wdr74	G	T	19: 8,737,947	V157L	probably benign	Het
Wnt7a	T	A	6: 91,394,548	D144V	probably benign	Het
Zfp106	C	T	2: 120,531,681	A986T	possibly damaging	Het

Other mutations in Catsperg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00808:Catsperg1	APN	7	29198146	missense	probably damaging	1.00
IGL01693:Catsperg1	APN	7	29185098	unclassified	probably benign
IGL01935:Catsperg1	APN	7	29195871	splice site	probably null
IGL02484:Catsperg1	APN	7	29210920	start gained	probably benign
IGL02584:Catsperg1	APN	7	29184721	missense	probably damaging	1.00
IGL02880:Catsperg1	APN	7	29195485	missense	possibly damaging	0.75
IGL03268:Catsperg1	APN	7	29200243	missense	probably damaging	1.00
IGL03285:Catsperg1	APN	7	29198172	missense	possibly damaging	0.89
solid	UTSW	7	29190298	nonsense	probably null
K7894:Catsperg1	UTSW	7	29197154	intron	probably benign
R0180:Catsperg1	UTSW	7	29190431	splice site	probably null
R0344:Catsperg1	UTSW	7	29195540	missense	probably damaging	1.00
R0523:Catsperg1	UTSW	7	29185190	unclassified	probably benign
R0561:Catsperg1	UTSW	7	29182312	missense	probably damaging	1.00
R0610:Catsperg1	UTSW	7	29190619	missense	probably damaging	1.00
R0762:Catsperg1	UTSW	7	29189952	missense	probably benign	0.03
R1074:Catsperg1	UTSW	7	29206849	missense	probably damaging	1.00
R1201:Catsperg1	UTSW	7	29191670	missense	possibly damaging	0.77
R1346:Catsperg1	UTSW	7	29182334	splice site	probably null
R1387:Catsperg1	UTSW	7	29206864	missense	probably damaging	1.00
R1467:Catsperg1	UTSW	7	29185008	missense	probably damaging	1.00
R1467:Catsperg1	UTSW	7	29185008	missense	probably damaging	1.00
R1486:Catsperg1	UTSW	7	29185495	missense	probably damaging	1.00
R1883:Catsperg1	UTSW	7	29182236	critical splice donor site	probably null
R1942:Catsperg1	UTSW	7	29206807	missense	possibly damaging	0.89
R2127:Catsperg1	UTSW	7	29185040	missense	probably damaging	1.00
R2205:Catsperg1	UTSW	7	29185246	nonsense	probably null
R4214:Catsperg1	UTSW	7	29195932	missense	possibly damaging	0.80
R4678:Catsperg1	UTSW	7	29190296	missense	probably benign	0.13
R5008:Catsperg1	UTSW	7	29195434	nonsense	probably null
R5217:Catsperg1	UTSW	7	29190298	nonsense	probably null
R5268:Catsperg1	UTSW	7	29195247	missense	probably benign	0.41
R5372:Catsperg1	UTSW	7	29210712	missense	probably benign	0.08
R5393:Catsperg1	UTSW	7	29185499	missense	probably damaging	1.00
R5406:Catsperg1	UTSW	7	29185523	missense	probably damaging	1.00
R5557:Catsperg1	UTSW	7	29195871	missense	possibly damaging	0.89
R5921:Catsperg1	UTSW	7	29190523	missense	possibly damaging	0.78
R5928:Catsperg1	UTSW	7	29206615	missense	probably damaging	0.99
R5960:Catsperg1	UTSW	7	29184783	unclassified	probably benign
R6053:Catsperg1	UTSW	7	29210814	nonsense	probably null
R6144:Catsperg1	UTSW	7	29210695	missense	probably damaging	0.99
R6215:Catsperg1	UTSW	7	29200239	missense	probably damaging	1.00
R6334:Catsperg1	UTSW	7	29206357	missense	probably benign	0.01
R6446:Catsperg1	UTSW	7	29206567	missense	probably benign	0.00
R6854:Catsperg1	UTSW	7	29181702	missense	possibly damaging	0.72
R7171:Catsperg1	UTSW	7	29185212	missense	probably damaging	1.00
R7326:Catsperg1	UTSW	7	29210759	missense	possibly damaging	0.82
R7382:Catsperg1	UTSW	7	29204844	missense	probably benign	0.02
R7473:Catsperg1	UTSW	7	29195478	missense	probably damaging	1.00
R7555:Catsperg1	UTSW	7	29189814	missense	probably damaging	0.97
R7714:Catsperg1	UTSW	7	29185482	missense	probably null	1.00
R7914:Catsperg1	UTSW	7	29195426	missense	probably benign
R7935:Catsperg1	UTSW	7	29195919	missense	possibly damaging	0.94
R8684:Catsperg1	UTSW	7	29198400	missense	probably damaging	1.00
R8733:Catsperg1	UTSW	7	29191686	missense	possibly damaging	0.95
R8821:Catsperg1	UTSW	7	29204936	splice site	probably benign
R9014:Catsperg1	UTSW	7	29206641	missense	probably damaging	1.00
R9016:Catsperg1	UTSW	7	29191737	missense	probably benign
R9093:Catsperg1	UTSW	7	29184727	missense	probably damaging	1.00
R9094:Catsperg1	UTSW	7	29184727	missense	probably damaging	1.00
R9096:Catsperg1	UTSW	7	29184727	missense	probably damaging	1.00
R9146:Catsperg1	UTSW	7	29210487	missense	probably benign	0.07
R9149:Catsperg1	UTSW	7	29210487	missense	probably benign	0.07
R9297:Catsperg1	UTSW	7	29191660	missense	probably benign	0.23
R9339:Catsperg1	UTSW	7	29195460	missense	probably benign	0.44
R9435:Catsperg1	UTSW	7	29190326	missense	probably benign	0.02
R9451:Catsperg1	UTSW	7	29198347	critical splice donor site	probably null
R9478:Catsperg1	UTSW	7	29198352	missense	possibly damaging	0.55
R9557:Catsperg1	UTSW	7	29204798	missense	probably damaging	1.00
Z1186:Catsperg1	UTSW	7	29181861	missense	possibly damaging	0.85
Z1186:Catsperg1	UTSW	7	29181862	missense	possibly damaging	0.85
Z1186:Catsperg1	UTSW	7	29181872	missense	probably benign	0.00
Z1186:Catsperg1	UTSW	7	29182052	missense	probably damaging	1.00
Z1186:Catsperg1	UTSW	7	29182122	missense	probably benign	0.00
Z1186:Catsperg1	UTSW	7	29190250	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAATCTCCTTGTGGACTACAGG -3'
(R):5'- TTCGAGATGGTGCCAGATGG -3'

Sequencing Primer
(F):5'- TTGTGGACTACAGGGCCCTC -3'
(R):5'- GGCTGGTCAGTATGTGAAAAATTACC -3'

Posted On

2014-07-14