Incidental Mutation 'R1808:Spaca3'
ID 203621
Institutional Source Beutler Lab
Gene Symbol Spaca3
Ensembl Gene ENSMUSG00000053184
Gene Name sperm acrosome associated 3
Synonyms SLLP1, 1700025M08Rik, ALLP17
MMRRC Submission 039837-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.617) question?
Stock # R1808 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 80749191-80758640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80758511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 158 (V158E)
Ref Sequence ENSEMBL: ENSMUSP00000099512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103222] [ENSMUST00000103223]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000103222
AA Change: V158E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099511
Gene: ENSMUSG00000053184
AA Change: V158E

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
LYZ1 36 162 1.26e-57 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103223
AA Change: V158E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099512
Gene: ENSMUSG00000053184
AA Change: V158E

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
LYZ1 36 162 1.26e-57 SMART
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.1%
  • 20x: 91.9%
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 a sperm surface protein that may be involved in adhesion to the egg prior to fertilization. While the encoded protein has significant similarity to lysozyme at the amino acid level, it has no detectable bacteriocidal activity. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik G T 5: 146,121,691 (GRCm39) Y69* probably null Het
2310011J03Rik A G 10: 80,156,015 (GRCm39) probably null Het
A2ml1 A C 6: 128,520,262 (GRCm39) D1367E probably damaging Het
Adam6a C G 12: 113,508,334 (GRCm39) L236V probably benign Het
Arf3 T C 15: 98,638,954 (GRCm39) N101S probably benign Het
Arhgap42 T C 9: 9,180,051 (GRCm39) E76G probably damaging Het
Atp2a1 A G 7: 126,052,573 (GRCm39) F382S probably damaging Het
Bud13 T A 9: 46,199,705 (GRCm39) F355L probably benign Het
C2 G A 17: 35,083,508 (GRCm39) P349S probably damaging Het
Cbl C A 9: 44,075,526 (GRCm39) G373V probably damaging Het
Ccdc3 T A 2: 5,142,896 (GRCm39) L51Q probably damaging Het
Ccdc34 T A 2: 109,874,601 (GRCm39) M320K probably benign Het
Cntln A G 4: 85,015,000 (GRCm39) E1097G probably damaging Het
Ctsc A C 7: 87,948,750 (GRCm39) K195Q possibly damaging Het
Ctsf C T 19: 4,906,562 (GRCm39) P163L probably benign Het
Dcxr A T 11: 120,616,438 (GRCm39) probably null Het
Dgki T C 6: 37,126,509 (GRCm39) E157G possibly damaging Het
Dnah8 T C 17: 30,903,160 (GRCm39) L933P probably damaging Het
Dtna T C 18: 23,702,697 (GRCm39) L76P probably damaging Het
Fcgbp T A 7: 27,784,515 (GRCm39) C192S probably benign Het
Galnt5 T A 2: 57,916,137 (GRCm39) D683E probably benign Het
Greb1l G A 18: 10,542,143 (GRCm39) A1297T probably benign Het
Grik4 T C 9: 42,540,322 (GRCm39) N286S probably benign Het
Hrc A T 7: 44,986,202 (GRCm39) E451V probably damaging Het
Hrh3 G A 2: 179,741,577 (GRCm39) probably benign Het
Ints13 A G 6: 146,455,695 (GRCm39) I152T probably damaging Het
Irgm1 A T 11: 48,757,259 (GRCm39) V184D probably damaging Het
Itga5 C T 15: 103,258,826 (GRCm39) A791T probably damaging Het
Kcp T C 6: 29,505,654 (GRCm39) T73A probably benign Het
Kidins220 A G 12: 25,053,008 (GRCm39) T433A probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Kmt2d T C 15: 98,764,567 (GRCm39) D12G probably damaging Het
Mms19 A G 19: 41,954,698 (GRCm39) S74P probably damaging Het
Myh1 G T 11: 67,102,300 (GRCm39) E864* probably null Het
Nek1 A G 8: 61,469,264 (GRCm39) D107G probably damaging Het
Npc1 T C 18: 12,327,149 (GRCm39) N1149D probably damaging Het
Or14j6 T A 17: 38,214,661 (GRCm39) S75T probably damaging Het
Or3a1b C A 11: 74,012,257 (GRCm39) S47R probably damaging Het
Or4k36 T C 2: 111,146,343 (GRCm39) V173A probably benign Het
Or5p79 A C 7: 108,221,817 (GRCm39) K266T possibly damaging Het
Osbp T C 19: 11,948,142 (GRCm39) S150P probably damaging Het
Paf1 T C 7: 28,096,247 (GRCm39) Y287H probably damaging Het
Pdgfrb T C 18: 61,201,174 (GRCm39) V420A probably benign Het
Pdss1 G T 2: 22,796,846 (GRCm39) E120* probably null Het
Pink1 A T 4: 138,044,630 (GRCm39) V339E probably damaging Het
Pkn3 C T 2: 29,969,663 (GRCm39) R58C probably damaging Het
Pm20d1 G A 1: 131,730,165 (GRCm39) V235I probably benign Het
Ppp2r2a A G 14: 67,276,412 (GRCm39) I31T probably damaging Het
Rbms3 T C 9: 116,651,894 (GRCm39) E152G probably damaging Het
Rfx1 A C 8: 84,821,677 (GRCm39) Q804H probably damaging Het
Rpe G T 1: 66,754,356 (GRCm39) V143L probably benign Het
Sap30l G T 11: 57,700,771 (GRCm39) V142L probably benign Het
Sh3tc1 T C 5: 35,863,268 (GRCm39) Q973R probably benign Het
Slc10a2 T C 8: 5,154,856 (GRCm39) T110A probably damaging Het
Snrnp200 A T 2: 127,060,947 (GRCm39) probably null Het
Snrnp200 G A 2: 127,060,948 (GRCm39) probably null Het
Sprtn C A 8: 125,629,770 (GRCm39) N354K probably benign Het
Stab1 T A 14: 30,863,101 (GRCm39) Y2166F possibly damaging Het
Tmem106c G A 15: 97,866,548 (GRCm39) probably null Het
Tnc A G 4: 63,918,168 (GRCm39) S1248P probably damaging Het
Tshr T C 12: 91,504,090 (GRCm39) F343L probably benign Het
Ttn C A 2: 76,555,698 (GRCm39) A30436S probably damaging Het
Ubxn2a A T 12: 4,935,839 (GRCm39) M68K probably benign Het
Ucp2 T C 7: 100,148,021 (GRCm39) V238A probably damaging Het
Urgcp C A 11: 5,667,242 (GRCm39) L365F probably damaging Het
Vezt A T 10: 93,826,026 (GRCm39) D328E probably damaging Het
Vmn1r168 G T 7: 23,240,184 (GRCm39) V14L probably benign Het
Vps13b T C 15: 35,792,205 (GRCm39) F2158L probably benign Het
Other mutations in Spaca3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01482:Spaca3 APN 11 80,758,510 (GRCm39) missense probably benign 0.01
IGL02469:Spaca3 APN 11 80,754,911 (GRCm39) splice site probably null
R1507:Spaca3 UTSW 11 80,753,983 (GRCm39) missense probably damaging 1.00
R2312:Spaca3 UTSW 11 80,754,037 (GRCm39) missense possibly damaging 0.87
R7284:Spaca3 UTSW 11 80,754,847 (GRCm39) missense possibly damaging 0.92
R7760:Spaca3 UTSW 11 80,755,389 (GRCm39) missense probably damaging 1.00
R8750:Spaca3 UTSW 11 80,758,514 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- CCTGAAGCTGATGTGGATTCTTTC -3'
(R):5'- ATGGGTACTTGTAGACCTGCAG -3'

Sequencing Primer
(F):5'- AATCTGCTCTGTAGACCAGGATTGC -3'
(R):5'- CTTGTAGACCTGCAGAAAACTG -3'
Posted On 2014-06-23