Mutagenetix > Incidental Mutation

Incidental Mutation 'R5323:Smcp'

404954

Institutional Source

Beutler Lab

Gene Symbol

Smcp

Ensembl Gene

ENSMUSG00000074435

Gene Name

sperm mitochondria-associated cysteine-rich protein

Synonyms

Mcsp

MMRRC Submission

042906-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R5323 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92491174-92496304 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92491454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 131 (G131D)

Ref Sequence

ENSEMBL: ENSMUSP00000142023 (fasta)

Gene Model

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

AlphaFold

P15265

Predicted Effect

unknown
Transcript: ENSMUST00000098888
AA Change: G131D

SMART Domains

Protein: ENSMUSP00000096487
Gene: ENSMUSG00000074435
AA Change: G131D

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

Predicted Effect

unknown
Transcript: ENSMUST00000194965
AA Change: G131D

SMART Domains

Protein: ENSMUSP00000142023
Gene: ENSMUSG00000074435
AA Change: G131D

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	A	7: 82,206,269 (GRCm39)	C784S	probably damaging	Het
Ahnak2	A	T	12: 112,745,989 (GRCm39)		probably benign	Het
Apon	A	G	10: 128,090,907 (GRCm39)	E195G	probably damaging	Het
Atxn10	A	G	15: 85,275,944 (GRCm39)	I334V	probably benign	Het
Camsap1	G	T	2: 25,855,823 (GRCm39)	A145E	probably damaging	Het
Capns1	G	T	7: 29,887,147 (GRCm39)	F243L	possibly damaging	Het
Catsper2	A	T	2: 121,237,216 (GRCm39)	I228N	probably damaging	Het
Ceacam14	A	T	7: 17,549,402 (GRCm39)	*264C	probably null	Het
Cel	A	C	2: 28,450,530 (GRCm39)	V165G	probably damaging	Het
Cldnd1	T	A	16: 58,550,016 (GRCm39)	D66E	possibly damaging	Het
Cntnap5b	T	A	1: 100,311,275 (GRCm39)	C589*	probably null	Het
Dnah3	T	A	7: 119,620,234 (GRCm39)	H1554L	probably damaging	Het
Fbxw25	T	A	9: 109,492,573 (GRCm39)	M55L	probably benign	Het
Fn1	T	C	1: 71,636,591 (GRCm39)	H2187R	probably benign	Het
Fsip2	A	G	2: 82,818,489 (GRCm39)	T4741A	possibly damaging	Het
Gabpa	T	A	16: 84,653,934 (GRCm39)	I272N	possibly damaging	Het
Ganab	T	C	19: 8,886,049 (GRCm39)	S212P	probably benign	Het
Ggt1	A	G	10: 75,421,495 (GRCm39)		probably null	Het
Hpgds	T	C	6: 65,109,169 (GRCm39)	T81A	probably benign	Het
Insr	G	A	8: 3,252,902 (GRCm39)	T419I	probably benign	Het
Itgb7	A	G	15: 102,140,059 (GRCm39)		probably benign	Het
Kcnt1	A	G	2: 25,799,289 (GRCm39)	I951V	possibly damaging	Het
Lrrc4c	T	A	2: 97,460,498 (GRCm39)	C375S	probably damaging	Het
Muc17	G	T	5: 137,175,537 (GRCm39)	C44*	probably null	Het
Mycbpap	A	T	11: 94,394,330 (GRCm39)	D313E	probably benign	Het
Neo1	A	G	9: 58,813,931 (GRCm39)		probably null	Het
Ntsr2	C	T	12: 16,709,934 (GRCm39)	S405F	probably benign	Het
Nup153	G	A	13: 46,870,682 (GRCm39)	P21S	probably benign	Het
Obscn	T	A	11: 58,887,703 (GRCm39)	E7705D	probably benign	Het
Ogn	A	G	13: 49,762,817 (GRCm39)	D53G	probably benign	Het
Or10d5j	A	T	9: 39,868,125 (GRCm39)	Y35*	probably null	Het
Or14j10	A	T	17: 37,935,046 (GRCm39)	I160K	probably benign	Het
Or5k8	G	A	16: 58,645,066 (GRCm39)	T2I	probably benign	Het
Or5p5	T	C	7: 107,413,883 (GRCm39)	F33L	possibly damaging	Het
Or9i1b	A	T	19: 13,896,980 (GRCm39)	I199F	possibly damaging	Het
Pde6a	G	A	18: 61,365,983 (GRCm39)	R236H	possibly damaging	Het
Pigk	T	A	3: 152,443,837 (GRCm39)	M85K	probably damaging	Het
Pirb	A	C	7: 3,719,598 (GRCm39)	I516S	possibly damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Pum2	T	A	12: 8,794,706 (GRCm39)	I737N	probably damaging	Het
Recql5	A	T	11: 115,818,215 (GRCm39)	C159S	probably damaging	Het
Rxrg	A	G	1: 167,452,573 (GRCm39)	N125S	probably benign	Het
Sgip1	C	A	4: 102,823,477 (GRCm39)	N699K	probably damaging	Het
Shprh	G	A	10: 11,046,041 (GRCm39)		probably null	Het
St8sia6	A	G	2: 13,798,188 (GRCm39)	L23P	possibly damaging	Het
Stk32c	T	A	7: 138,699,276 (GRCm39)	T335S	probably benign	Het
Stox1	G	A	10: 62,499,812 (GRCm39)	A916V	possibly damaging	Het
Syk	A	T	13: 52,785,753 (GRCm39)	T297S	probably benign	Het
Tert	G	T	13: 73,796,490 (GRCm39)	A1074S	probably benign	Het
Tex9	A	T	9: 72,385,187 (GRCm39)	D135E	probably damaging	Het
Tmem132a	G	A	19: 10,841,371 (GRCm39)	H318Y	possibly damaging	Het
Ttn	A	G	2: 76,738,249 (GRCm39)	S4097P	probably benign	Het
Ush2a	A	T	1: 188,553,874 (GRCm39)		probably null	Het
Usp36	A	T	11: 118,156,020 (GRCm39)	S586T	probably benign	Het
Vsig8	A	G	1: 172,388,244 (GRCm39)	S71G	probably benign	Het
Zfp318	G	A	17: 46,697,662 (GRCm39)	D173N	probably damaging	Het
Zfp638	T	A	6: 83,939,076 (GRCm39)	S936T	probably damaging	Het
Zic2	A	G	14: 122,713,728 (GRCm39)	Y214C	probably damaging	Het

Other mutations in Smcp

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02167:Smcp	APN	3	92,491,506 (GRCm39)	missense	unknown
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
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

Predicted Primers

PCR Primer
(F):5'- TGTCAGGATCACTAGACAAGATG -3'
(R):5'- CCACAGAAGTGTTCGTGCTG -3'

Sequencing Primer
(F):5'- TGCAATAGTAGCCTACAGTTAGGTCG -3'
(R):5'- TGTTCGTGCTGCCCCAAAAAG -3'

Posted On

2016-07-22