Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02167:Smcp'

282753

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smcp

Ensembl Gene

ENSMUSG00000074435

Gene Name

sperm mitochondria-associated cysteine-rich protein

Synonyms

Mcsp

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL02167

Quality Score

Status

Chromosome

Chromosomal Location

92491174-92496304 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92491506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 114 (T114A)

Ref Sequence

ENSEMBL: ENSMUSP00000142023 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098888] [ENSMUST00000194965]

AlphaFold

P15265

Predicted Effect

unknown
Transcript: ENSMUST00000098888
AA Change: T114A

SMART Domains

Protein: ENSMUSP00000096487
Gene: ENSMUSG00000074435
AA Change: T114A

Domain	Start	End	E-Value	Type
low complexity region	9	102	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000194965
AA Change: T114A

SMART Domains

Protein: ENSMUSP00000142023
Gene: ENSMUSG00000074435
AA Change: T114A

Domain	Start	End	E-Value	Type
low complexity region	9	102	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: On a 129 inbred background, males homozygous for a targeted null mutation produce sperm with reduced motility and capacity to penetrate oocytes resulting in infertility. Noninbred mutant males are normally fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,122,721 (GRCm39)		probably benign	Het
Cacna1f	T	C	X: 7,482,258 (GRCm39)	Y581H	probably damaging	Het
Camsap1	C	T	2: 25,824,312 (GRCm39)	R1416H	probably damaging	Het
Ccdc117	T	C	11: 5,481,333 (GRCm39)	E266G	possibly damaging	Het
Ccdc9	A	T	7: 16,018,284 (GRCm39)	L8*	probably null	Het
Cited2	T	C	10: 17,600,018 (GRCm39)	S109P	probably benign	Het
Cnot4	T	C	6: 35,033,159 (GRCm39)	D286G	possibly damaging	Het
Col5a1	T	C	2: 27,908,568 (GRCm39)	I52T	probably benign	Het
Cry2	T	C	2: 92,264,166 (GRCm39)	N68S	possibly damaging	Het
Cul4a	T	C	8: 13,172,826 (GRCm39)	F153S	probably damaging	Het
Ddr1	T	C	17: 36,000,963 (GRCm39)	S261G	possibly damaging	Het
Depdc5	G	A	5: 33,061,145 (GRCm39)	R324Q	probably damaging	Het
Dmgdh	A	G	13: 93,857,135 (GRCm39)		probably benign	Het
Epha8	A	T	4: 136,658,405 (GRCm39)	M990K	probably damaging	Het
Gpr137c	G	T	14: 45,517,412 (GRCm39)	G383C	probably damaging	Het
Hydin	T	A	8: 111,145,055 (GRCm39)	I802N	possibly damaging	Het
Ifne	A	G	4: 88,798,065 (GRCm39)	Y118H	possibly damaging	Het
Kansl2	T	C	15: 98,431,396 (GRCm39)		probably benign	Het
Lig4	T	A	8: 10,021,821 (GRCm39)	N653I	probably benign	Het
Nagk	A	G	6: 83,778,088 (GRCm39)	D246G	probably damaging	Het
Nav1	A	G	1: 135,398,699 (GRCm39)	S628P	probably damaging	Het
Ncoa3	A	G	2: 165,912,056 (GRCm39)	Y1401C	probably damaging	Het
Ndufa9	A	G	6: 126,821,748 (GRCm39)		probably benign	Het
Nynrin	G	T	14: 56,100,792 (GRCm39)	R194L	probably damaging	Het
Or10a4	A	T	7: 106,696,868 (GRCm39)	R65S	probably benign	Het
Or10ag53	G	A	2: 87,082,542 (GRCm39)	C87Y	probably benign	Het
Or13a17	T	A	7: 140,271,664 (GRCm39)	V282D	probably damaging	Het
Orc2	A	T	1: 58,522,798 (GRCm39)		probably benign	Het
Oxgr1	T	A	14: 120,259,342 (GRCm39)	R288S	probably damaging	Het
Pgap6	T	C	17: 26,338,045 (GRCm39)	S450P	probably damaging	Het
Prkcg	T	C	7: 3,371,097 (GRCm39)		probably null	Het
Prox1	T	C	1: 189,893,477 (GRCm39)	N323D	probably benign	Het
Prrt1	A	C	17: 34,850,829 (GRCm39)	E215A	possibly damaging	Het
Rab2b	T	C	14: 52,506,153 (GRCm39)	D103G	probably damaging	Het
Sardh	G	T	2: 27,081,987 (GRCm39)	N846K	probably damaging	Het
Slc38a8	T	A	8: 120,214,099 (GRCm39)	T248S	probably benign	Het
Slc6a18	T	C	13: 73,814,591 (GRCm39)		probably null	Het
Trpv1	A	G	11: 73,145,623 (GRCm39)	N754D	probably damaging	Het
Txnrd1	A	T	10: 82,717,745 (GRCm39)	H243L	probably benign	Het
Wdfy3	T	C	5: 102,109,023 (GRCm39)	M125V	probably damaging	Het
Wnk2	T	C	13: 49,224,601 (GRCm39)		probably null	Het
Wrn	T	C	8: 33,807,583 (GRCm39)	M292V	probably damaging	Het
Zbtb17	T	C	4: 141,189,140 (GRCm39)	L20P	possibly damaging	Het
Zfp608	T	C	18: 55,121,296 (GRCm39)	H97R	probably damaging	Het
Zfp68	T	A	5: 138,604,629 (GRCm39)	M565L	probably benign	Het
Zfp687	T	C	3: 94,917,841 (GRCm39)	T644A	probably benign	Het
Zfp777	C	T	6: 48,021,460 (GRCm39)	G54D	probably damaging	Het

Other mutations in Smcp

Allele	Source	Chr	Coord	Type	Predicted Effect
R0128:Smcp	UTSW	3	92,491,827 (GRCm39)	missense	unknown
R0130:Smcp	UTSW	3	92,491,827 (GRCm39)	missense	unknown
R1552:Smcp	UTSW	3	92,491,710 (GRCm39)	missense	unknown
R1648:Smcp	UTSW	3	92,491,788 (GRCm39)	missense	unknown
R3713:Smcp	UTSW	3	92,491,431 (GRCm39)	missense	unknown
R5323:Smcp	UTSW	3	92,491,454 (GRCm39)	missense	unknown
R5501:Smcp	UTSW	3	92,491,731 (GRCm39)	missense	unknown
R5990:Smcp	UTSW	3	92,491,557 (GRCm39)	missense	unknown
R7639:Smcp	UTSW	3	92,491,797 (GRCm39)	missense	unknown
R8906:Smcp	UTSW	3	92,491,530 (GRCm39)	missense	unknown
R9103:Smcp	UTSW	3	92,491,838 (GRCm39)	missense	unknown

Posted On

2015-04-16