Incidental Mutation 'R6824:Spaca1'
ID 534040
Institutional Source Beutler Lab
Gene Symbol Spaca1
Ensembl Gene ENSMUSG00000028264
Gene Name sperm acrosome associated 1
Synonyms 1700124L11Rik, 4930540L03Rik
MMRRC Submission 044936-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6824 (G1)
Quality Score 194.009
Status Validated
Chromosome 4
Chromosomal Location 34024872-34050067 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34049869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 43 (V43A)
Ref Sequence ENSEMBL: ENSMUSP00000081785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029927] [ENSMUST00000084734]
AlphaFold Q9DA48
Predicted Effect probably benign
Transcript: ENSMUST00000029927
AA Change: V43A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029927
Gene: ENSMUSG00000028264
AA Change: V43A

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 46 79 N/A INTRINSIC
transmembrane domain 228 250 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000084734
AA Change: V43A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000081785
Gene: ENSMUSG00000028264
AA Change: V43A

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 46 79 N/A INTRINSIC
transmembrane domain 228 250 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from infertile males. Furthermore, antibodies generated against the recombinant protein block in vitro fertilization. This protein localizes to the acrosomal membrane of spermatids and mature spermatozoa where it is thought to play a role in acrosomal morphogenesis and in sperm-egg binding and fusion, respectively. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null male mice are infertile and display globozoospermia and asthenozoospermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck2 A G 6: 39,552,058 (GRCm39) D275G probably benign Het
Cdh4 G A 2: 179,439,351 (GRCm39) R166H probably damaging Het
Chl1 A G 6: 103,691,510 (GRCm39) K1051E probably damaging Het
Chn2 A T 6: 54,249,938 (GRCm39) M16L probably benign Het
Cmas A G 6: 142,716,962 (GRCm39) T285A possibly damaging Het
Cnga4 A T 7: 105,056,036 (GRCm39) M213L probably benign Het
Ctif C T 18: 75,654,782 (GRCm39) R248Q probably damaging Het
Cyth3 T C 5: 143,672,265 (GRCm39) I60T probably damaging Het
Dach1 A G 14: 98,256,328 (GRCm39) I310T possibly damaging Het
Defb6 T C 8: 19,278,099 (GRCm39) I57T probably benign Het
Dnajc27 T C 12: 4,156,897 (GRCm39) V262A possibly damaging Het
Emsy G A 7: 98,242,614 (GRCm39) T1175M probably benign Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fat4 T A 3: 39,011,674 (GRCm39) V2258E probably benign Het
Gm136 G A 4: 34,746,591 (GRCm39) T140I probably benign Het
Gps1 T C 11: 120,678,254 (GRCm39) F265S probably damaging Het
Grik5 C T 7: 24,745,780 (GRCm39) R431Q possibly damaging Het
Hnrnpul2 T C 19: 8,804,081 (GRCm39) V560A possibly damaging Het
Kmt2b A G 7: 30,285,701 (GRCm39) probably benign Het
Krt8 T C 15: 101,906,875 (GRCm39) N317S possibly damaging Het
Lad1 A G 1: 135,755,479 (GRCm39) T252A probably benign Het
Maml2 G A 9: 13,608,513 (GRCm39) S743N possibly damaging Het
Mrpl9 C A 3: 94,350,677 (GRCm39) P7H possibly damaging Het
Myb T A 10: 21,021,019 (GRCm39) H470L probably benign Het
Nicol1 T C 5: 34,141,069 (GRCm39) probably benign Het
Nr1i3 T C 1: 171,042,542 (GRCm39) I56T probably benign Het
Nrdc A G 4: 108,900,622 (GRCm39) Y338C probably damaging Het
Or13n4 A G 7: 106,423,664 (GRCm39) V23A probably benign Het
Pcdhb20 T A 18: 37,638,752 (GRCm39) M426K probably benign Het
Pde6d T C 1: 86,473,485 (GRCm39) T104A possibly damaging Het
Ptprz1 A T 6: 23,002,130 (GRCm39) T1407S probably benign Het
Recql5 C T 11: 115,814,038 (GRCm39) R369Q possibly damaging Het
Rnf180 T A 13: 105,318,023 (GRCm39) D463V probably damaging Het
Sart3 C T 5: 113,882,600 (GRCm39) probably null Het
Sdk2 T C 11: 113,758,760 (GRCm39) D488G probably benign Het
Slc9a9 C T 9: 95,109,251 (GRCm39) P538S probably damaging Het
Snap29 A G 16: 17,240,370 (GRCm39) K159E probably benign Het
Stk10 T C 11: 32,537,363 (GRCm39) S191P probably damaging Het
Tbc1d1 A G 5: 64,414,245 (GRCm39) H73R probably benign Het
Tcerg1l A G 7: 137,995,844 (GRCm39) probably null Het
Tmem67 T C 4: 12,051,449 (GRCm39) Y793C probably damaging Het
Ttll12 A T 15: 83,475,578 (GRCm39) probably null Het
Vmn2r61 G T 7: 41,949,403 (GRCm39) V608L probably benign Het
Xpo4 A T 14: 57,850,860 (GRCm39) I348N probably damaging Het
Zfp941 G A 7: 140,392,612 (GRCm39) T249M probably benign Het
Other mutations in Spaca1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Spaca1 APN 4 34,029,077 (GRCm39) missense probably damaging 0.99
IGL01871:Spaca1 APN 4 34,040,894 (GRCm39) missense probably damaging 0.98
F5770:Spaca1 UTSW 4 34,039,311 (GRCm39) missense probably damaging 0.99
FR4342:Spaca1 UTSW 4 34,049,838 (GRCm39) small insertion probably benign
FR4548:Spaca1 UTSW 4 34,049,856 (GRCm39) small insertion probably benign
FR4737:Spaca1 UTSW 4 34,049,836 (GRCm39) small insertion probably benign
FR4976:Spaca1 UTSW 4 34,049,849 (GRCm39) small insertion probably benign
FR4976:Spaca1 UTSW 4 34,049,844 (GRCm39) small insertion probably benign
R0377:Spaca1 UTSW 4 34,044,267 (GRCm39) splice site probably null
R1861:Spaca1 UTSW 4 34,044,206 (GRCm39) missense probably damaging 0.99
R3105:Spaca1 UTSW 4 34,028,468 (GRCm39) missense probably damaging 1.00
R4930:Spaca1 UTSW 4 34,044,236 (GRCm39) missense possibly damaging 0.65
R5030:Spaca1 UTSW 4 34,039,247 (GRCm39) missense possibly damaging 0.65
R5137:Spaca1 UTSW 4 34,029,095 (GRCm39) missense probably damaging 1.00
R5264:Spaca1 UTSW 4 34,049,863 (GRCm39) missense possibly damaging 0.53
R6158:Spaca1 UTSW 4 34,029,176 (GRCm39) missense probably damaging 0.99
R8039:Spaca1 UTSW 4 34,044,207 (GRCm39) missense probably damaging 0.99
R8094:Spaca1 UTSW 4 34,049,837 (GRCm39) missense possibly damaging 0.55
R8134:Spaca1 UTSW 4 34,042,157 (GRCm39) splice site probably null
R9120:Spaca1 UTSW 4 34,029,168 (GRCm39) missense probably damaging 0.97
RF006:Spaca1 UTSW 4 34,049,853 (GRCm39) small insertion probably benign
RF017:Spaca1 UTSW 4 34,049,853 (GRCm39) small insertion probably benign
RF032:Spaca1 UTSW 4 34,049,854 (GRCm39) small insertion probably benign
RF043:Spaca1 UTSW 4 34,049,846 (GRCm39) small insertion probably benign
RF044:Spaca1 UTSW 4 34,049,854 (GRCm39) small insertion probably benign
RF044:Spaca1 UTSW 4 34,049,846 (GRCm39) small insertion probably benign
RF060:Spaca1 UTSW 4 34,049,841 (GRCm39) small insertion probably benign
V7580:Spaca1 UTSW 4 34,039,311 (GRCm39) missense probably damaging 0.99
V7581:Spaca1 UTSW 4 34,039,311 (GRCm39) missense probably damaging 0.99
V7582:Spaca1 UTSW 4 34,039,311 (GRCm39) missense probably damaging 0.99
V7583:Spaca1 UTSW 4 34,039,311 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCCAGAAAACTCTACAGAAGATGGC -3'
(R):5'- ACTGTTCGAAGCAGCCTCTC -3'

Sequencing Primer
(F):5'- TTCTTTTCTACAAAAGGATGGGC -3'
(R):5'- GAAGCAGCCTCTCCTCCAG -3'
Posted On 2018-09-12