Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02014:Spats1'

183452

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spats1

Ensembl Gene

ENSMUSG00000023935

Gene Name

spermatogenesis associated, serine-rich 1

Synonyms

Srsp1, 4933400B06Rik, 1700011H05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02014

Quality Score

Status

Chromosome

Chromosomal Location

45754156-45785864 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45772166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 81 (R81C)

Ref Sequence

ENSEMBL: ENSMUSP00000024731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024731]

AlphaFold

A2RRY8

Predicted Effect

probably benign
Transcript: ENSMUST00000024731
AA Change: R81C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000024731
Gene: ENSMUSG00000023935
AA Change: R81C

Domain	Start	End	E-Value	Type
Pfam:SASRP1	10	257	1.1e-140	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000095268

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd44	C	T	1: 54,696,779 (GRCm39)	G654S	possibly damaging	Het
Ark2c	A	T	18: 77,556,055 (GRCm39)	V167E	probably damaging	Het
Arl14ep	C	T	2: 106,797,458 (GRCm39)	A180T	probably benign	Het
Btbd9	A	C	17: 30,736,124 (GRCm39)	S330A	probably damaging	Het
Cep78	T	C	19: 15,962,102 (GRCm39)	D48G	probably damaging	Het
Col4a4	C	T	1: 82,501,681 (GRCm39)		probably benign	Het
Ctdsp1	C	T	1: 74,433,175 (GRCm39)		probably benign	Het
Gapvd1	G	A	2: 34,594,203 (GRCm39)	P949L	probably damaging	Het
Gas6	T	C	8: 13,518,359 (GRCm39)	T492A	possibly damaging	Het
Igbp1b	A	T	6: 138,634,601 (GRCm39)	V281D	probably benign	Het
Mapk8ip3	G	A	17: 25,122,254 (GRCm39)		probably benign	Het
Met	T	C	6: 17,527,256 (GRCm39)		probably benign	Het
Mmachc	A	G	4: 116,560,907 (GRCm39)	F196S	probably damaging	Het
Or52z13	T	A	7: 103,246,937 (GRCm39)	I138N	probably damaging	Het
Pah	A	T	10: 87,417,789 (GRCm39)	T427S	probably benign	Het
Pcdh7	C	A	5: 57,877,045 (GRCm39)	P200Q	probably benign	Het
Pde3a	C	A	6: 141,404,870 (GRCm39)	P365Q	probably null	Het
Pkm	A	G	9: 59,576,244 (GRCm39)	T143A	possibly damaging	Het
Plppr4	A	G	3: 117,129,222 (GRCm39)	S82P	probably damaging	Het
Ryr3	T	C	2: 112,777,260 (GRCm39)	E299G	possibly damaging	Het
Sdk2	G	A	11: 113,729,320 (GRCm39)	P1086S	probably damaging	Het
Spmap2l	T	A	5: 77,195,002 (GRCm39)	F59I	probably damaging	Het
Tbc1d2	T	C	4: 46,649,778 (GRCm39)	N86S	possibly damaging	Het
Vezt	T	A	10: 93,832,811 (GRCm39)	Y10F	probably benign	Het
Vmn1r174	C	A	7: 23,453,583 (GRCm39)	P83H	probably damaging	Het
Vmn1r218	C	T	13: 23,321,001 (GRCm39)	T36I	probably damaging	Het
Zmym4	A	T	4: 126,794,462 (GRCm39)	N889K	possibly damaging	Het

Other mutations in Spats1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Spats1	APN	17	45,765,011 (GRCm39)	splice site	probably null
IGL02547:Spats1	APN	17	45,785,743 (GRCm39)	utr 5 prime	probably benign
R3150:Spats1	UTSW	17	45,775,480 (GRCm39)	missense	probably damaging	1.00
R5229:Spats1	UTSW	17	45,777,059 (GRCm39)	intron	probably benign
R6406:Spats1	UTSW	17	45,768,191 (GRCm39)	missense	probably damaging	1.00
R6512:Spats1	UTSW	17	45,763,599 (GRCm39)	splice site	probably null
R7161:Spats1	UTSW	17	45,760,095 (GRCm39)	missense	probably benign	0.02
R7255:Spats1	UTSW	17	45,765,131 (GRCm39)	missense	probably damaging	1.00
R7474:Spats1	UTSW	17	45,768,087 (GRCm39)	missense	possibly damaging	0.55
R7826:Spats1	UTSW	17	45,763,644 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07