Incidental Mutation 'IGL02095:Acrbp'
ID 279603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Acrbp
Ensembl Gene ENSMUSG00000072770
Gene Name proacrosin binding protein
Synonyms OY-TES-1, sp32
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL02095
Quality Score
Status
Chromosome 6
Chromosomal Location 125026890-125040228 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 125030919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 313 (Y313*)
Ref Sequence ENSEMBL: ENSMUSP00000108033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032480] [ENSMUST00000032481] [ENSMUST00000088294] [ENSMUST00000112413] [ENSMUST00000112414] [ENSMUST00000140131] [ENSMUST00000112417]
AlphaFold Q3V140
Predicted Effect probably benign
Transcript: ENSMUST00000032480
SMART Domains Protein: ENSMUSP00000032480
Gene: ENSMUSG00000030330

DomainStartEndE-ValueType
Pfam:ING 5 107 5.5e-35 PFAM
low complexity region 118 131 N/A INTRINSIC
PHD 197 242 3.67e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000032481
SMART Domains Protein: ENSMUSP00000032481
Gene: ENSMUSG00000072770

DomainStartEndE-ValueType
Pfam:PBP_sp32 1 140 4.8e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088294
SMART Domains Protein: ENSMUSP00000085632
Gene: ENSMUSG00000072770

DomainStartEndE-ValueType
Pfam:PBP_sp32 1 239 1.6e-139 PFAM
KAZAL 466 506 1.42e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000112412
SMART Domains Protein: ENSMUSP00000108031
Gene: ENSMUSG00000072770

DomainStartEndE-ValueType
Pfam:PBP_sp32 1 87 6.5e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112413
SMART Domains Protein: ENSMUSP00000108032
Gene: ENSMUSG00000072770

DomainStartEndE-ValueType
Pfam:PBP_sp32 1 169 6.2e-100 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112414
AA Change: Y313*
SMART Domains Protein: ENSMUSP00000108033
Gene: ENSMUSG00000072770
AA Change: Y313*

DomainStartEndE-ValueType
Pfam:PBP_sp32 1 239 1.9e-138 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205110
Predicted Effect probably benign
Transcript: ENSMUST00000140131
SMART Domains Protein: ENSMUSP00000121519
Gene: ENSMUSG00000030330

DomainStartEndE-ValueType
Pfam:ING 6 107 2.1e-35 PFAM
low complexity region 114 139 N/A INTRINSIC
PHD 198 243 3.67e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112417
SMART Domains Protein: ENSMUSP00000108036
Gene: ENSMUSG00000030330

DomainStartEndE-ValueType
Pfam:ING 5 107 6.5e-35 PFAM
low complexity region 118 126 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140883
SMART Domains Protein: ENSMUSP00000118561
Gene: ENSMUSG00000030330

DomainStartEndE-ValueType
Pfam:ING 5 107 1e-34 PFAM
low complexity region 118 131 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.] The protein encoded by this gene is similar to proacrosin binding protein sp32 precursor found in mouse, guinea pig, and pig. This protein is located in the sperm acrosome and is thought to function as a binding protein to proacrosin for packaging and condensation of the acrosin zymogen in the acrosomal matrix. This protein is a member of the cancer/testis family of antigens and it is found to be immunogenic. In normal tissues, this mRNA is expressed only in testis, whereas it is detected in a range of different tumor types such as bladder, breast, lung, liver, and colon. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in delayed fertilization due to a delay in sperm penetration of the zona pellucida. Homozygous sperm also show reduced fertilization rates of oocytes with a thick or hardened zona pellucida. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,383,583 (GRCm39) Q794L probably benign Het
Adam9 A G 8: 25,486,745 (GRCm39) S178P probably benign Het
Adgrv1 T C 13: 81,727,909 (GRCm39) I244V possibly damaging Het
Atad5 A G 11: 79,985,533 (GRCm39) S207G probably benign Het
Atp10a A G 7: 58,457,141 (GRCm39) D880G probably damaging Het
Cadps2 A G 6: 23,427,309 (GRCm39) I573T probably benign Het
Camsap3 A G 8: 3,653,845 (GRCm39) D494G probably damaging Het
Cbfa2t3 T C 8: 123,360,232 (GRCm39) E438G probably damaging Het
Cisd2 T C 3: 135,116,980 (GRCm39) D37G possibly damaging Het
Cndp2 T C 18: 84,699,157 (GRCm39) E36G possibly damaging Het
Ddx54 G A 5: 120,761,856 (GRCm39) G544D possibly damaging Het
Dok2 G T 14: 71,015,301 (GRCm39) G343W possibly damaging Het
Dscaml1 A G 9: 45,359,001 (GRCm39) N87D probably damaging Het
Ehf T C 2: 103,097,336 (GRCm39) Y237C probably damaging Het
Exoc3 T C 13: 74,328,655 (GRCm39) T569A probably damaging Het
Fam151a T C 4: 106,605,072 (GRCm39) V478A probably damaging Het
Fam227b T A 2: 125,942,924 (GRCm39) H291L probably damaging Het
Fmn2 A G 1: 174,330,167 (GRCm39) T186A unknown Het
Ggnbp2 T C 11: 84,723,954 (GRCm39) Y660C probably damaging Het
Ggt5 G A 10: 75,444,637 (GRCm39) M318I probably benign Het
Gprc5d A G 6: 135,093,175 (GRCm39) I244T probably damaging Het
Gucy2e A G 11: 69,123,613 (GRCm39) S429P possibly damaging Het
Igf2r T C 17: 12,920,892 (GRCm39) D1341G probably damaging Het
Kcnq4 T C 4: 120,557,224 (GRCm39) probably benign Het
Krt40 T C 11: 99,432,497 (GRCm39) D173G probably damaging Het
Lrrc27 C T 7: 138,810,169 (GRCm39) T380I probably benign Het
Lrrc4c A G 2: 97,459,749 (GRCm39) N125S probably benign Het
Mtor C T 4: 148,628,998 (GRCm39) R2217C probably damaging Het
Nfrkb C T 9: 31,322,527 (GRCm39) R866W probably damaging Het
Or10s1 T A 9: 39,985,967 (GRCm39) Y125* probably null Het
Or4d10b C A 19: 12,036,913 (GRCm39) V68F probably benign Het
P2ry6 T A 7: 100,588,071 (GRCm39) D96V probably damaging Het
Pcdh18 A T 3: 49,710,605 (GRCm39) S237T probably benign Het
Pck2 G A 14: 55,779,967 (GRCm39) R72Q probably benign Het
Pik3c2a C T 7: 115,945,423 (GRCm39) R1461Q probably damaging Het
Polr3a A G 14: 24,504,678 (GRCm39) V1130A possibly damaging Het
Ppm1d T A 11: 85,217,832 (GRCm39) D198E probably benign Het
Rasa1 T A 13: 85,364,274 (GRCm39) E1022D probably benign Het
Rbm25 T C 12: 83,718,748 (GRCm39) Y507H probably damaging Het
Rbm26 A T 14: 105,381,696 (GRCm39) I488K probably damaging Het
Ryr2 T A 13: 11,774,645 (GRCm39) E1170D probably damaging Het
Sdk2 T G 11: 113,725,656 (GRCm39) T1198P probably damaging Het
Sema3g C T 14: 30,949,781 (GRCm39) T654I probably benign Het
Spag9 A T 11: 93,999,408 (GRCm39) H1108L probably damaging Het
Trgc2 T A 13: 19,491,580 (GRCm39) probably benign Het
Ubap2 T C 4: 41,229,709 (GRCm39) N142S probably benign Het
Usp33 T C 3: 152,087,431 (GRCm39) F699L possibly damaging Het
Ythdc2 A G 18: 45,006,207 (GRCm39) probably benign Het
Other mutations in Acrbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:Acrbp APN 6 125,027,477 (GRCm39) missense probably damaging 1.00
IGL01656:Acrbp APN 6 125,030,675 (GRCm39) missense possibly damaging 0.88
IGL02186:Acrbp APN 6 125,031,773 (GRCm39) splice site probably null
IGL02473:Acrbp APN 6 125,031,661 (GRCm39) missense probably benign
IGL02831:Acrbp APN 6 125,038,212 (GRCm39) missense possibly damaging 0.89
IGL03110:Acrbp APN 6 125,039,436 (GRCm39) missense probably damaging 0.99
R0071:Acrbp UTSW 6 125,027,915 (GRCm39) unclassified probably benign
R0071:Acrbp UTSW 6 125,027,915 (GRCm39) unclassified probably benign
R0279:Acrbp UTSW 6 125,030,917 (GRCm39) critical splice donor site probably null
R0483:Acrbp UTSW 6 125,031,759 (GRCm39) missense possibly damaging 0.61
R1017:Acrbp UTSW 6 125,038,223 (GRCm39) splice site probably benign
R1486:Acrbp UTSW 6 125,027,585 (GRCm39) missense probably damaging 1.00
R4679:Acrbp UTSW 6 125,037,881 (GRCm39) missense probably damaging 0.96
R4898:Acrbp UTSW 6 125,027,501 (GRCm39) missense probably damaging 0.97
R4987:Acrbp UTSW 6 125,030,725 (GRCm39) missense probably benign 0.23
R5249:Acrbp UTSW 6 125,037,885 (GRCm39) missense probably damaging 0.98
R5458:Acrbp UTSW 6 125,027,013 (GRCm39) unclassified probably benign
R5579:Acrbp UTSW 6 125,038,062 (GRCm39) missense probably benign 0.00
R6491:Acrbp UTSW 6 125,028,442 (GRCm39) unclassified probably benign
R7643:Acrbp UTSW 6 125,030,795 (GRCm39) missense possibly damaging 0.92
R8217:Acrbp UTSW 6 125,037,921 (GRCm39) missense probably damaging 0.99
R9167:Acrbp UTSW 6 125,039,942 (GRCm39) missense probably damaging 1.00
R9280:Acrbp UTSW 6 125,039,938 (GRCm39) missense probably damaging 0.96
R9492:Acrbp UTSW 6 125,038,062 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16