Incidental Mutation 'R8094:Spaca1'
ID 630053
Institutional Source Beutler Lab
Gene Symbol Spaca1
Ensembl Gene ENSMUSG00000028264
Gene Name sperm acrosome associated 1
Synonyms 1700124L11Rik, 4930540L03Rik
MMRRC Submission 067526-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8094 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 34024874-34050191 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34049837 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 54 (E54K)
Ref Sequence ENSEMBL: ENSMUSP00000029927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029927] [ENSMUST00000084734]
AlphaFold Q9DA48
Predicted Effect possibly damaging
Transcript: ENSMUST00000029927
AA Change: E54K

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000029927
Gene: ENSMUSG00000028264
AA Change: E54K

signal peptide 1 28 N/A INTRINSIC
low complexity region 46 79 N/A INTRINSIC
transmembrane domain 228 250 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000084734
AA Change: E54K

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000081785
Gene: ENSMUSG00000028264
AA Change: E54K

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.2%
  • 20x: 98.0%
Validation Efficiency
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik T A 8: 12,279,824 (GRCm38) L93H unknown Het
A2ml1 A G 6: 128,572,082 (GRCm38) Y246H probably damaging Het
Akap11 C A 14: 78,512,973 (GRCm38) C658F Het
Akap2 A G 4: 57,886,319 (GRCm38) T859A possibly damaging Het
Arid2 T G 15: 96,368,711 (GRCm38) S547A possibly damaging Het
Atf1 C A 15: 100,245,289 (GRCm38) D46E probably damaging Het
Brca2 T A 5: 150,536,169 (GRCm38) F303Y possibly damaging Het
Btbd18 T A 2: 84,667,916 (GRCm38) S633T possibly damaging Het
Btg4 T G 9: 51,119,145 (GRCm38) F182V probably benign Het
Cacna1e G A 1: 154,561,770 (GRCm38) S340F probably damaging Het
Camta2 A G 11: 70,686,077 (GRCm38) W41R probably damaging Het
Cbl A T 9: 44,163,399 (GRCm38) D455E probably benign Het
Ccdc162 A T 10: 41,612,868 (GRCm38) D1208E probably benign Het
Cd177 A T 7: 24,744,417 (GRCm38) M752K probably damaging Het
Cep290 A T 10: 100,544,931 (GRCm38) H100L possibly damaging Het
Chrnb2 T A 3: 89,761,391 (GRCm38) I206F probably damaging Het
Cyp2c40 T A 19: 39,802,571 (GRCm38) Y272F probably benign Het
Cyp2c40 A G 19: 39,802,565 (GRCm38) L274S probably benign Het
Cyp2d22 C A 15: 82,374,355 (GRCm38) A102S probably benign Het
Cyp51 C T 5: 4,086,490 (GRCm38) E435K probably benign Het
Dchs2 T C 3: 83,355,622 (GRCm38) F3066L probably benign Het
Disp1 C A 1: 183,087,628 (GRCm38) R1076L probably damaging Het
Dkk2 C T 3: 132,086,040 (GRCm38) A3V probably benign Het
Dnah7b T C 1: 46,126,804 (GRCm38) F543S probably benign Het
Dpt A T 1: 164,796,912 (GRCm38) S61C probably damaging Het
Drg2 A T 11: 60,462,270 (GRCm38) Y243F probably damaging Het
Dsg2 A G 18: 20,583,004 (GRCm38) probably benign Het
Dst T G 1: 34,188,959 (GRCm38) L1878V possibly damaging Het
F5 A G 1: 164,208,940 (GRCm38) Y1890C probably benign Het
Fat1 T C 8: 44,952,702 (GRCm38) V830A probably damaging Het
Fat2 C T 11: 55,296,139 (GRCm38) D1294N probably benign Het
Fbxo15 A G 18: 84,965,493 (GRCm38) Y322C probably benign Het
Fhit A T 14: 10,751,666 (GRCm38) N7K unknown Het
Fuk A G 8: 110,895,972 (GRCm38) F108S probably damaging Het
Gabrb2 A G 11: 42,597,543 (GRCm38) I279V probably damaging Het
Galk2 T C 2: 125,931,269 (GRCm38) F207S probably damaging Het
Gm16486 T C 8: 70,709,418 (GRCm38) V420A probably benign Het
Gtpbp3 C T 8: 71,488,836 (GRCm38) L17F possibly damaging Het
Gucy2c T A 6: 136,737,448 (GRCm38) D460V probably benign Het
Herc1 G A 9: 66,493,180 (GRCm38) V4329I probably damaging Het
Kirrel3 G A 9: 35,035,164 (GRCm38) V740M probably damaging Het
Macf1 C A 4: 123,369,867 (GRCm38) V6956L probably damaging Het
Mill1 C T 7: 18,255,910 (GRCm38) A39V probably benign Het
Mkln1 T A 6: 31,492,653 (GRCm38) Y599* probably null Het
Mrpl14 T A 17: 45,698,113 (GRCm38) L46Q possibly damaging Het
Myom2 G T 8: 15,069,418 (GRCm38) R103L possibly damaging Het
Naip2 A C 13: 100,161,782 (GRCm38) I582S probably benign Het
Ndst2 A T 14: 20,728,164 (GRCm38) V449D probably damaging Het
Nell1 T A 7: 50,120,587 (GRCm38) H131Q probably benign Het
Nos3 G C 5: 24,367,220 (GRCm38) R97P probably benign Het
Npc1 A T 18: 12,194,240 (GRCm38) F1099L probably benign Het
Nxpe5 T A 5: 138,251,540 (GRCm38) W531R probably damaging Het
Olfr1215 T C 2: 89,002,368 (GRCm38) probably benign Het
Olfr1450 A T 19: 12,954,002 (GRCm38) T138S probably benign Het
Olfr3 A T 2: 36,812,318 (GRCm38) L258H probably damaging Het
Olfr800 A G 10: 129,660,064 (GRCm38) D86G probably damaging Het
Osmr T C 15: 6,815,621 (GRCm38) N889S possibly damaging Het
Oxct2b A G 4: 123,116,508 (GRCm38) I74V possibly damaging Het
Phldb3 C A 7: 24,626,709 (GRCm38) A572D probably damaging Het
Pigr A G 1: 130,846,510 (GRCm38) E409G probably damaging Het
Ptprs T C 17: 56,428,947 (GRCm38) E674G probably benign Het
Ptpru G A 4: 131,793,592 (GRCm38) T801I possibly damaging Het
Ralgapa1 T A 12: 55,782,846 (GRCm38) D200V probably damaging Het
Rb1cc1 A T 1: 6,263,224 (GRCm38) R1429* probably null Het
Rictor C T 15: 6,772,154 (GRCm38) S441L probably benign Het
Rnpep A T 1: 135,283,776 (GRCm38) L78Q probably damaging Het
Rtn2 A T 7: 19,293,866 (GRCm38) I394F probably damaging Het
Satb2 A T 1: 56,831,464 (GRCm38) V572D possibly damaging Het
Sds T C 5: 120,478,936 (GRCm38) probably benign Het
Sgo2a T C 1: 58,017,141 (GRCm38) I828T possibly damaging Het
Slc25a33 T A 4: 149,756,152 (GRCm38) K79N probably benign Het
Slc25a51 A C 4: 45,399,783 (GRCm38) F136V probably benign Het
Slfn14 T A 11: 83,283,293 (GRCm38) K291* probably null Het
Sp100 A G 1: 85,697,098 (GRCm38) K403E possibly damaging Het
Sympk T G 7: 19,053,448 (GRCm38) probably null Het
Syne1 A T 10: 5,117,031 (GRCm38) V7078D probably damaging Het
Tas2r121 T A 6: 132,700,809 (GRCm38) I67L probably benign Het
Tha1 T C 11: 117,868,497 (GRCm38) K389E probably benign Het
Thbs2 T A 17: 14,680,322 (GRCm38) Q541L probably benign Het
Tmem161b C A 13: 84,222,418 (GRCm38) probably benign Het
Tmem94 T C 11: 115,788,392 (GRCm38) probably null Het
Tnfsf13 A G 11: 69,685,157 (GRCm38) C35R probably damaging Het
Trcg1 C A 9: 57,242,281 (GRCm38) Q379K probably benign Het
Ubr4 T C 4: 139,440,696 (GRCm38) S1507P probably damaging Het
Uckl1 A G 2: 181,573,256 (GRCm38) I268T probably damaging Het
Uvrag T C 7: 98,991,967 (GRCm38) K289E possibly damaging Het
Vmn2r104 C A 17: 20,030,221 (GRCm38) C596F possibly damaging Het
Vmn2r11 A T 5: 109,053,760 (GRCm38) F293I probably damaging Het
Vps13b T A 15: 35,668,906 (GRCm38) probably null Het
Wipf1 G A 2: 73,437,535 (GRCm38) P173L possibly damaging Het
Zfp217 G A 2: 170,119,651 (GRCm38) S252F possibly damaging Het
Zscan4f T A 7: 11,401,227 (GRCm38) C187S possibly damaging Het
Other mutations in Spaca1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Spaca1 APN 4 34,029,077 (GRCm38) missense probably damaging 0.99
IGL01871:Spaca1 APN 4 34,040,894 (GRCm38) missense probably damaging 0.98
F5770:Spaca1 UTSW 4 34,039,311 (GRCm38) missense probably damaging 0.99
FR4342:Spaca1 UTSW 4 34,049,838 (GRCm38) small insertion probably benign
FR4548:Spaca1 UTSW 4 34,049,856 (GRCm38) small insertion probably benign
FR4737:Spaca1 UTSW 4 34,049,836 (GRCm38) small insertion probably benign
FR4976:Spaca1 UTSW 4 34,049,849 (GRCm38) small insertion probably benign
FR4976:Spaca1 UTSW 4 34,049,844 (GRCm38) small insertion probably benign
R0377:Spaca1 UTSW 4 34,044,267 (GRCm38) splice site probably null
R1861:Spaca1 UTSW 4 34,044,206 (GRCm38) missense probably damaging 0.99
R3105:Spaca1 UTSW 4 34,028,468 (GRCm38) missense probably damaging 1.00
R4930:Spaca1 UTSW 4 34,044,236 (GRCm38) missense possibly damaging 0.65
R5030:Spaca1 UTSW 4 34,039,247 (GRCm38) missense possibly damaging 0.65
R5137:Spaca1 UTSW 4 34,029,095 (GRCm38) missense probably damaging 1.00
R5264:Spaca1 UTSW 4 34,049,863 (GRCm38) missense possibly damaging 0.53
R6158:Spaca1 UTSW 4 34,029,176 (GRCm38) missense probably damaging 0.99
R6824:Spaca1 UTSW 4 34,049,869 (GRCm38) missense probably benign 0.00
R8039:Spaca1 UTSW 4 34,044,207 (GRCm38) missense probably damaging 0.99
R8134:Spaca1 UTSW 4 34,042,157 (GRCm38) splice site probably null
R9120:Spaca1 UTSW 4 34,029,168 (GRCm38) missense probably damaging 0.97
RF006:Spaca1 UTSW 4 34,049,853 (GRCm38) small insertion probably benign
RF017:Spaca1 UTSW 4 34,049,853 (GRCm38) small insertion probably benign
RF032:Spaca1 UTSW 4 34,049,854 (GRCm38) small insertion probably benign
RF043:Spaca1 UTSW 4 34,049,846 (GRCm38) small insertion probably benign
RF044:Spaca1 UTSW 4 34,049,854 (GRCm38) small insertion probably benign
RF044:Spaca1 UTSW 4 34,049,846 (GRCm38) small insertion probably benign
RF060:Spaca1 UTSW 4 34,049,841 (GRCm38) small insertion probably benign
V7580:Spaca1 UTSW 4 34,039,311 (GRCm38) missense probably damaging 0.99
V7581:Spaca1 UTSW 4 34,039,311 (GRCm38) missense probably damaging 0.99
V7582:Spaca1 UTSW 4 34,039,311 (GRCm38) missense probably damaging 0.99
V7583:Spaca1 UTSW 4 34,039,311 (GRCm38) missense probably damaging 0.99
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-06-30