Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02110:Stra8'

280116

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stra8

Ensembl Gene

ENSMUSG00000029848

Gene Name

stimulated by retinoic acid gene 8

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

IGL02110

Quality Score

Status

Chromosome

Chromosomal Location

34897098-34916279 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 34907289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031876] [ENSMUST00000114997] [ENSMUST00000114999] [ENSMUST00000185102]

AlphaFold

P70278

Predicted Effect

probably benign
Transcript: ENSMUST00000031876

SMART Domains

Protein: ENSMUSP00000031876
Gene: ENSMUSG00000029848

Domain	Start	End	E-Value	Type
Blast:HLH	34	83	5e-20	BLAST
coiled coil region	159	201	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114997

SMART Domains

Protein: ENSMUSP00000110649
Gene: ENSMUSG00000029848

Domain	Start	End	E-Value	Type
coiled coil region	48	90	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114999

SMART Domains

Protein: ENSMUSP00000110651
Gene: ENSMUSG00000029848

Domain	Start	End	E-Value	Type
Blast:HLH	34	83	5e-20	BLAST
coiled coil region	159	201	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185102

SMART Domains

Protein: ENSMUSP00000139136
Gene: ENSMUSG00000029848

Domain	Start	End	E-Value	Type
low complexity region	122	146	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a retinoic acid-responsive protein. A homologous protein in mouse has been shown to be involved in the regulation of meiotic initiation in both spermatogenesis and oogenesis, though feature differences between the mouse and human proteins suggest that these homologs are not entirely functionally equivalent. It is thought that this gene may play a role in spermatogenesis in humans. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous null mice display impaired meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol7e	A	G	15: 77,598,548 (GRCm39)		probably null	Het
Arhgef40	C	T	14: 52,226,862 (GRCm39)	T302M	probably damaging	Het
Bap1	T	C	14: 30,979,371 (GRCm39)	L458P	probably damaging	Het
Bbs12	A	G	3: 37,373,336 (GRCm39)	E43G	probably benign	Het
Bod1l	C	T	5: 41,973,796 (GRCm39)	C2506Y	probably damaging	Het
Ccdc170	A	G	10: 4,491,885 (GRCm39)		probably null	Het
Chpf2	A	G	5: 24,796,710 (GRCm39)	E552G	probably damaging	Het
Comp	T	A	8: 70,826,289 (GRCm39)	I23N	probably benign	Het
Cxcl2	T	C	5: 91,052,211 (GRCm39)		probably benign	Het
Dctn5	T	C	7: 121,734,374 (GRCm39)	F73L	probably damaging	Het
Ddx5	T	C	11: 106,675,835 (GRCm39)	E285G	probably damaging	Het
Ddx60	T	G	8: 62,470,281 (GRCm39)		probably null	Het
Dhcr24	T	A	4: 106,430,998 (GRCm39)	I229N	probably damaging	Het
Dnah7a	G	A	1: 53,450,739 (GRCm39)	T3897I	possibly damaging	Het
Dvl2	T	A	11: 69,898,842 (GRCm39)		probably benign	Het
Dytn	A	T	1: 63,686,632 (GRCm39)	V346E	possibly damaging	Het
Eepd1	T	C	9: 25,514,698 (GRCm39)		probably benign	Het
Fbln2	G	T	6: 91,211,084 (GRCm39)	A343S	probably benign	Het
Flywch1	T	C	17: 23,982,066 (GRCm39)		probably null	Het
Gckr	A	T	5: 31,456,082 (GRCm39)	T81S	possibly damaging	Het
Gm6139	T	A	5: 129,700,656 (GRCm39)		noncoding transcript	Het
Gpcpd1	A	T	2: 132,372,530 (GRCm39)	C657*	probably null	Het
Greb1l	A	G	18: 10,515,271 (GRCm39)	I89V	probably damaging	Het
Hdac4	G	A	1: 91,912,127 (GRCm39)	P421S	probably benign	Het
Iqca1l	A	G	5: 24,753,082 (GRCm39)		probably benign	Het
Klhl1	A	G	14: 96,374,039 (GRCm39)	L669P	probably benign	Het
Mios	A	G	6: 8,215,565 (GRCm39)	R254G	probably damaging	Het
Mmp19	A	G	10: 128,630,727 (GRCm39)	N116D	probably damaging	Het
Muc5b	T	A	7: 141,401,453 (GRCm39)	C566*	probably null	Het
Nadsyn1	T	C	7: 143,367,164 (GRCm39)	Y141C	probably damaging	Het
Nlrp4d	T	C	7: 10,116,491 (GRCm39)		noncoding transcript	Het
Nob1	A	T	8: 108,142,804 (GRCm39)	*160R	probably null	Het
Or10ac1	A	G	6: 42,515,113 (GRCm39)	V281A	possibly damaging	Het
Or1f12	T	A	13: 21,722,112 (GRCm39)	Q21L	possibly damaging	Het
Or1j17	A	G	2: 36,578,697 (GRCm39)	T228A	probably benign	Het
Or4k45	C	T	2: 111,395,252 (GRCm39)	C179Y	probably damaging	Het
Or51s1	C	T	7: 102,558,402 (GRCm39)	V215I	probably benign	Het
Or56b1b	C	A	7: 108,164,286 (GRCm39)	A239S	probably damaging	Het
Phc1	T	C	6: 122,298,994 (GRCm39)	D658G	possibly damaging	Het
Pitx2	T	G	3: 129,012,466 (GRCm39)	S299A	probably damaging	Het
Plekha7	C	A	7: 115,753,863 (GRCm39)		probably null	Het
Ptgfr	A	G	3: 151,541,097 (GRCm39)	V137A	probably damaging	Het
Ptprb	T	C	10: 116,167,108 (GRCm39)		probably benign	Het
Rasl2-9	C	T	7: 5,128,346 (GRCm39)	A195T	probably benign	Het
Ripor3	T	A	2: 167,836,626 (GRCm39)	Q121L	possibly damaging	Het
Sgsh	G	T	11: 119,243,632 (GRCm39)	A30E	probably damaging	Het
Sis	G	T	3: 72,836,032 (GRCm39)	C852*	probably null	Het
Slc17a9	A	G	2: 180,374,369 (GRCm39)		probably benign	Het
Slco6b1	A	T	1: 96,915,607 (GRCm39)		noncoding transcript	Het
Smarca2	A	G	19: 26,650,140 (GRCm39)	Y704C	possibly damaging	Het
Spata6	A	T	4: 111,642,003 (GRCm39)	H291L	possibly damaging	Het
Taldo1	T	C	7: 140,982,647 (GRCm39)		probably benign	Het
Tmco6	T	C	18: 36,868,219 (GRCm39)		probably benign	Het
Tmpo	A	C	10: 90,998,727 (GRCm39)	S353R	probably damaging	Het
Tpr	A	T	1: 150,311,493 (GRCm39)	Q1757L	probably damaging	Het
Ubn1	T	C	16: 4,899,754 (GRCm39)		probably benign	Het
Vmn2r83	T	C	10: 79,327,534 (GRCm39)	V714A	possibly damaging	Het
Zfp407	G	T	18: 84,577,165 (GRCm39)	A1316D	probably benign	Het
Zzef1	T	A	11: 72,803,938 (GRCm39)	I2560N	probably damaging	Het

Other mutations in Stra8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00862:Stra8	APN	6	34,914,998 (GRCm39)	missense	probably benign	0.09
IGL01336:Stra8	APN	6	34,910,123 (GRCm39)	missense	possibly damaging	0.75
IGL02572:Stra8	APN	6	34,916,094 (GRCm39)	missense	probably damaging	1.00
rounded	UTSW	6	34,909,975 (GRCm39)	nonsense	probably null
R1740:Stra8	UTSW	6	34,904,654 (GRCm39)	splice site	probably benign
R4928:Stra8	UTSW	6	34,910,091 (GRCm39)	missense	probably benign	0.03
R5412:Stra8	UTSW	6	34,907,885 (GRCm39)	start codon destroyed	probably null	0.46
R5709:Stra8	UTSW	6	34,904,697 (GRCm39)	missense	possibly damaging	0.73
R6558:Stra8	UTSW	6	34,909,975 (GRCm39)	nonsense	probably null
R7081:Stra8	UTSW	6	34,911,302 (GRCm39)	critical splice donor site	probably null
R7673:Stra8	UTSW	6	34,904,853 (GRCm39)	critical splice donor site	probably null
R7845:Stra8	UTSW	6	34,907,899 (GRCm39)	missense	probably benign	0.23
R7946:Stra8	UTSW	6	34,907,816 (GRCm39)	critical splice acceptor site	probably null
R8773:Stra8	UTSW	6	34,912,581 (GRCm39)	missense	probably damaging	0.98
R8933:Stra8	UTSW	6	34,904,624 (GRCm39)	intron	probably benign
R9149:Stra8	UTSW	6	34,911,016 (GRCm39)	missense	probably damaging	1.00
R9484:Stra8	UTSW	6	34,911,121 (GRCm39)	missense	probably damaging	1.00
R9512:Stra8	UTSW	6	34,909,988 (GRCm39)	missense	probably benign	0.03

Posted On

2015-04-16