Incidental Mutation 'IGL00934:Acrv1'
ID 28183
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 # IGL00934
Quality Score
Status
Chromosome 9
Chromosomal Location 36604550-36610139 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36605688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 78 (H78Q)
Ref Sequence ENSEMBL: ENSMUSP00000034620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034620]
AlphaFold P50289
Predicted Effect possibly damaging
Transcript: ENSMUST00000034620
AA Change: H78Q

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034620
Gene: ENSMUSG00000032110
AA Change: H78Q

DomainStartEndE-ValueType
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A T 3: 59,659,474 (GRCm39) Y309F probably benign Het
Camk2g C T 14: 20,787,398 (GRCm39) G500S probably damaging Het
Ccr1 A G 9: 123,763,777 (GRCm39) L251P probably damaging Het
Dgkb G A 12: 38,477,455 (GRCm39) A622T probably damaging Het
Fat4 C A 3: 38,944,822 (GRCm39) D1238E probably damaging Het
Gfpt2 G T 11: 49,699,950 (GRCm39) V102F probably benign Het
Kif2a A C 13: 107,105,301 (GRCm39) probably benign Het
Klk1b9 T C 7: 43,627,878 (GRCm39) W59R probably damaging Het
Lonp1 T C 17: 56,921,683 (GRCm39) T875A probably benign Het
Mical2 A G 7: 111,948,610 (GRCm39) Y802C probably damaging Het
Neurl1b C A 17: 26,651,152 (GRCm39) D141E probably damaging Het
Or2f1 A T 6: 42,721,625 (GRCm39) Y218F probably damaging Het
Or51b17 G T 7: 103,542,071 (GRCm39) Y290* probably null Het
Pcdhga3 A G 18: 37,808,486 (GRCm39) E313G possibly damaging Het
Usp32 A T 11: 84,897,902 (GRCm39) D1146E probably damaging Het
Other mutations in Acrv1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00707:Acrv1 APN 9 36,607,904 (GRCm39) missense possibly damaging 0.92
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 2013-04-17