Incidental Mutation 'IGL02630:Spaca6'
ID 301256
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spaca6
Ensembl Gene ENSMUSG00000080316
Gene Name sperm acrosome associated 6
Synonyms B230206P06Rik, 4930546H06Rik, Ncrna00085
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # IGL02630
Quality Score
Status
Chromosome 17
Chromosomal Location 18047420-18063271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18051351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 9 (L9Q)
Ref Sequence ENSEMBL: ENSMUSP00000119658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000139969] [ENSMUST00000172097] [ENSMUST00000228490] [ENSMUST00000226899] [ENSMUST00000150302]
AlphaFold E9Q8Q8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000012759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133912
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137228
Predicted Effect probably damaging
Transcript: ENSMUST00000139969
AA Change: L9Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119658
Gene: ENSMUSG00000080316
AA Change: L9Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:IG 151 186 1e-17 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000172097
AA Change: L29Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128732
Gene: ENSMUSG00000080316
AA Change: L29Q

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
IG 171 260 2.08e-1 SMART
transmembrane domain 310 332 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155293
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178408
Predicted Effect probably benign
Transcript: ENSMUST00000228490
Predicted Effect probably benign
Transcript: ENSMUST00000226899
Predicted Effect probably benign
Transcript: ENSMUST00000150302
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a transgene insertion that inactivates this gene exhibit impaired fertilization and male infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,989,441 (GRCm39) V3575E probably damaging Het
Arfgef3 G A 10: 18,537,140 (GRCm39) probably benign Het
Arhgap23 A G 11: 97,345,123 (GRCm39) T631A probably benign Het
Chka T A 19: 3,942,112 (GRCm39) H355Q possibly damaging Het
Ctsj C T 13: 61,149,214 (GRCm39) A277T probably damaging Het
Ddx49 T C 8: 70,753,668 (GRCm39) D67G probably damaging Het
Dennd4b T C 3: 90,180,284 (GRCm39) S716P probably benign Het
Enpp5 G T 17: 44,393,766 (GRCm39) D321Y probably damaging Het
Espl1 A G 15: 102,205,253 (GRCm39) E17G probably benign Het
Fam161b G A 12: 84,400,688 (GRCm39) P428L probably benign Het
Fbxw7 T C 3: 84,872,586 (GRCm39) L256S probably damaging Het
Fgfr2 G T 7: 129,830,525 (GRCm39) probably null Het
Foxred2 C T 15: 77,831,362 (GRCm39) V484I probably benign Het
Gm4744 T A 6: 40,927,403 (GRCm39) probably benign Het
H3c1 C T 13: 23,946,231 (GRCm39) V36M probably benign Het
Hipk2 T C 6: 38,795,456 (GRCm39) N271S possibly damaging Het
Ifna1 A G 4: 88,768,496 (GRCm39) D58G possibly damaging Het
Igkv4-80 A T 6: 68,993,680 (GRCm39) Y70* probably null Het
Ivns1abp G A 1: 151,235,386 (GRCm39) R218H probably damaging Het
Kng1 A T 16: 22,898,595 (GRCm39) probably benign Het
Lars1 T C 18: 42,390,234 (GRCm39) D11G probably damaging Het
Lgals12 T C 19: 7,578,607 (GRCm39) probably benign Het
Lpar4 T A X: 105,974,817 (GRCm39) F334I probably benign Het
Muc5b G A 7: 141,416,968 (GRCm39) G3305S probably benign Het
Nalcn T C 14: 123,555,291 (GRCm39) D864G probably benign Het
Ndor1 T C 2: 25,145,299 (GRCm39) E22G probably damaging Het
Nt5c2 T A 19: 46,912,749 (GRCm39) M69L probably benign Het
Or52ab4 A C 7: 102,987,636 (GRCm39) Y125S probably damaging Het
Or8k22 T C 2: 86,163,212 (GRCm39) I163V probably benign Het
Pde12 A T 14: 26,387,552 (GRCm39) H455Q probably damaging Het
Pdia6 A G 12: 17,324,422 (GRCm39) H91R probably benign Het
Pdk4 A T 6: 5,491,671 (GRCm39) I179K possibly damaging Het
Prl2c1 T C 13: 28,041,480 (GRCm39) probably benign Het
Rasgrf2 C T 13: 92,267,900 (GRCm39) E35K probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sash1 T A 10: 8,620,299 (GRCm39) M454L probably benign Het
Secisbp2 C A 13: 51,832,942 (GRCm39) T608K possibly damaging Het
Slco1a7 T C 6: 141,668,836 (GRCm39) Y532C probably damaging Het
Slmap A G 14: 26,143,586 (GRCm39) V750A possibly damaging Het
Sycp1 T C 3: 102,786,080 (GRCm39) probably benign Het
Sycp2 A T 2: 178,043,712 (GRCm39) D131E probably damaging Het
Tc2n A T 12: 101,659,404 (GRCm39) D176E probably damaging Het
Thoc7 T C 14: 13,953,154 (GRCm38) I83V probably damaging Het
Trank1 T C 9: 111,202,143 (GRCm39) V1590A possibly damaging Het
Tyrp1 T C 4: 80,758,994 (GRCm39) V289A possibly damaging Het
Ube2dnl1 T A X: 113,815,483 (GRCm39) C119* probably null Het
Vmn1r191 T A 13: 22,363,431 (GRCm39) I108F possibly damaging Het
Zfp710 T A 7: 79,731,789 (GRCm39) I322N probably damaging Het
Other mutations in Spaca6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:Spaca6 APN 17 18,051,429 (GRCm39) missense probably benign 0.41
IGL03010:Spaca6 APN 17 18,058,667 (GRCm39) missense probably benign 0.01
IGL03352:Spaca6 APN 17 18,058,401 (GRCm39) missense probably damaging 1.00
R0021:Spaca6 UTSW 17 18,058,498 (GRCm39) nonsense probably null
R0964:Spaca6 UTSW 17 18,058,653 (GRCm39) missense possibly damaging 0.46
R1941:Spaca6 UTSW 17 18,058,692 (GRCm39) missense probably damaging 0.99
R1941:Spaca6 UTSW 17 18,058,664 (GRCm39) missense probably benign 0.05
R2197:Spaca6 UTSW 17 18,056,416 (GRCm39) critical splice donor site probably null
R2235:Spaca6 UTSW 17 18,058,507 (GRCm39) critical splice donor site probably null
R4602:Spaca6 UTSW 17 18,051,387 (GRCm39) missense probably damaging 0.99
R4645:Spaca6 UTSW 17 18,056,307 (GRCm39) intron probably benign
R4672:Spaca6 UTSW 17 18,057,005 (GRCm39) nonsense probably null
R5044:Spaca6 UTSW 17 18,051,458 (GRCm39) missense probably benign 0.00
R5212:Spaca6 UTSW 17 18,058,656 (GRCm39) missense probably benign 0.01
R5222:Spaca6 UTSW 17 18,058,367 (GRCm39) missense probably benign 0.02
R5528:Spaca6 UTSW 17 18,051,344 (GRCm39) missense probably benign
R5854:Spaca6 UTSW 17 18,051,509 (GRCm39) nonsense probably null
R6029:Spaca6 UTSW 17 18,051,458 (GRCm39) missense probably benign 0.00
R7041:Spaca6 UTSW 17 18,056,358 (GRCm39) missense probably benign 0.14
R7268:Spaca6 UTSW 17 18,052,369 (GRCm39) missense probably benign 0.09
R8281:Spaca6 UTSW 17 18,052,321 (GRCm39) missense possibly damaging 0.78
R8840:Spaca6 UTSW 17 18,051,365 (GRCm39) missense possibly damaging 0.59
R8926:Spaca6 UTSW 17 18,058,790 (GRCm39) critical splice donor site probably null
R8965:Spaca6 UTSW 17 18,058,718 (GRCm39) missense probably damaging 0.98
R9404:Spaca6 UTSW 17 18,057,800 (GRCm39) missense probably damaging 1.00
R9651:Spaca6 UTSW 17 18,057,829 (GRCm39) missense probably benign 0.14
R9713:Spaca6 UTSW 17 18,058,498 (GRCm39) nonsense probably null
Z1177:Spaca6 UTSW 17 18,051,314 (GRCm39) missense probably benign 0.18
Posted On 2015-04-16