Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00707:Acrv1'

13273

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acrv1

Ensembl Gene

ENSMUSG00000032110

Gene Name

acrosomal vesicle protein 1

Synonyms

Msa63, SP-10

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL00707

Quality Score

Status

Chromosome

Chromosomal Location

36604550-36610139 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36607904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 188 (T188I)

Ref Sequence

ENSEMBL: ENSMUSP00000034620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034620]

AlphaFold

P50289

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034620
AA Change: T188I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034620
Gene: ENSMUSG00000032110
AA Change: T188I

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	66	100	N/A	INTRINSIC
low complexity region	104	130	N/A	INTRINSIC
low complexity region	135	147	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216487

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 testis-specific, differentiation antigen, acrosomal vesicle protein 1, that arises within the acrosomal vesicle during spermatogenesis, and is associated with the acrosomal membranes and matrix of mature sperm. The acrosomal vesicle protein 1 may be involved in sperm-zona binding or penetration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	G	T	11: 72,069,330 (GRCm39)	T528K	probably damaging	Het
Abca13	A	T	11: 9,241,586 (GRCm39)	T1150S	probably damaging	Het
Atrnl1	A	T	19: 57,661,697 (GRCm39)	Y559F	probably damaging	Het
Ccdc171	A	T	4: 83,599,392 (GRCm39)	M736L	probably benign	Het
Eif4g1	G	A	16: 20,507,764 (GRCm39)	R1480Q	probably damaging	Het
Huwe1	T	A	X: 150,643,730 (GRCm39)	S553T	probably damaging	Het
Myb	T	A	10: 21,024,283 (GRCm39)	E299V	probably damaging	Het
Nuf2	T	A	1: 169,350,004 (GRCm39)		probably benign	Het
Ptafr	A	G	4: 132,307,569 (GRCm39)	T320A	probably benign	Het
Pwp1	T	A	10: 85,714,380 (GRCm39)	H107Q	probably damaging	Het
Tmeff2	A	G	1: 51,172,212 (GRCm39)		probably null	Het
Zp2	C	T	7: 119,732,636 (GRCm39)	A637T	probably benign	Het
Zzz3	T	A	3: 152,154,680 (GRCm39)	L118*	probably null	Het

Other mutations in Acrv1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00934:Acrv1	APN	9	36,605,688 (GRCm39)	missense	possibly damaging	0.66
IGL01325:Acrv1	APN	9	36,609,810 (GRCm39)	missense	probably benign	0.04
R1710:Acrv1	UTSW	9	36,605,551 (GRCm39)	nonsense	probably null
R2361:Acrv1	UTSW	9	36,609,846 (GRCm39)	missense	possibly damaging	0.66
R4959:Acrv1	UTSW	9	36,605,996 (GRCm39)	critical splice donor site	probably null
R5570:Acrv1	UTSW	9	36,605,577 (GRCm39)	missense	probably damaging	1.00
R8890:Acrv1	UTSW	9	36,604,608 (GRCm39)	start codon destroyed	probably benign	0.01

Posted On

2012-12-06