Incidental Mutation 'R7760:Spaca3'
ID 597807
Institutional Source Beutler Lab
Gene Symbol Spaca3
Ensembl Gene ENSMUSG00000053184
Gene Name sperm acrosome associated 3
Synonyms SLLP1, 1700025M08Rik, ALLP17
MMRRC Submission 045816-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.617) question?
Stock # R7760 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 80749191-80758640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 80755389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 133 (V133D)
Ref Sequence ENSEMBL: ENSMUSP00000099511 (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: V133D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099511
Gene: ENSMUSG00000053184
AA Change: V133D

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: V133D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099512
Gene: ENSMUSG00000053184
AA Change: V133D

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
LYZ1 36 162 1.26e-57 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 C T 14: 25,873,251 (GRCm39) Q162* probably null Het
Arg1 T G 10: 24,803,361 (GRCm39) probably benign Het
Arl6 T C 16: 59,439,169 (GRCm39) D175G probably damaging Het
Capg A G 6: 72,534,769 (GRCm39) R199G probably damaging Het
Ceacam1 T A 7: 25,171,450 (GRCm39) E338V probably damaging Het
Clec4d A G 6: 123,247,300 (GRCm39) N148D probably benign Het
Ctr9 T G 7: 110,645,808 (GRCm39) I653R probably damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
Dnah7b T A 1: 46,240,413 (GRCm39) L1510Q probably damaging Het
Efcab5 T A 11: 77,042,752 (GRCm39) E136D probably benign Het
Elfn2 C T 15: 78,558,041 (GRCm39) A169T probably benign Het
Elp1 A G 4: 56,790,892 (GRCm39) V287A probably benign Het
Esrp2 T A 8: 106,860,102 (GRCm39) E326D probably benign Het
Fbrs T C 7: 127,088,572 (GRCm39) V718A probably damaging Het
Fbxl21 C T 13: 56,684,816 (GRCm39) R307C probably benign Het
Fbxl21 T C 13: 56,674,747 (GRCm39) S33P probably benign Het
Gatad2b C T 3: 90,261,776 (GRCm39) R461W probably damaging Het
Gm19410 T A 8: 36,269,491 (GRCm39) C1109S probably damaging Het
Gm6882 T A 7: 21,161,409 (GRCm39) D153V probably damaging Het
Golga3 A G 5: 110,353,716 (GRCm39) E918G probably benign Het
Greb1 T C 12: 16,773,417 (GRCm39) N219S probably benign Het
Grpel1 G T 5: 36,627,986 (GRCm39) R89L probably damaging Het
Ighv5-12 T A 12: 113,665,795 (GRCm39) Q101L probably benign Het
Ldb3 T A 14: 34,264,460 (GRCm39) N590I probably damaging Het
Man2c1 T C 9: 57,046,647 (GRCm39) V636A probably benign Het
Mblac2 G T 13: 81,859,996 (GRCm39) V117L probably benign Het
Muc6 T A 7: 141,237,322 (GRCm39) probably null Het
Nfatc3 A G 8: 106,834,973 (GRCm39) E773G possibly damaging Het
Ngef T C 1: 87,468,495 (GRCm39) D88G probably benign Het
Nipbl T C 15: 8,388,186 (GRCm39) E478G probably damaging Het
Or2t6 T C 14: 14,175,905 (GRCm38) Y59C probably damaging Het
Pbx4 C A 8: 70,285,445 (GRCm39) D29E probably benign Het
Pcdhgb5 A G 18: 37,864,690 (GRCm39) I162V not run Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pigr A T 1: 130,774,368 (GRCm39) R449S possibly damaging Het
Plcb2 T C 2: 118,541,869 (GRCm39) T914A probably benign Het
Ppp5c A G 7: 16,740,274 (GRCm39) S387P probably damaging Het
Rnf7l T C 10: 63,257,316 (GRCm39) K68R probably damaging Het
Rtkn2 T G 10: 67,841,439 (GRCm39) S196A probably damaging Het
Sec31a A G 5: 100,540,487 (GRCm39) F400L probably damaging Het
Senp7 A T 16: 55,959,442 (GRCm39) M251L probably benign Het
Slc6a5 T C 7: 49,596,365 (GRCm39) F612L probably benign Het
Slc7a9 T C 7: 35,156,500 (GRCm39) I314T possibly damaging Het
Smc5 A C 19: 23,213,254 (GRCm39) S553A probably benign Het
Taco1 T A 11: 105,963,938 (GRCm39) D232E possibly damaging Het
Tarbp1 C T 8: 127,179,546 (GRCm39) R664H not run Het
Tlk2 T C 11: 105,169,993 (GRCm39) I674T probably damaging Het
Tnxb A T 17: 34,931,911 (GRCm39) E2148V probably damaging Het
Tom1l2 T C 11: 60,165,791 (GRCm39) S59G probably benign Het
Traj46 A T 14: 54,409,813 (GRCm39) H7L Het
Traj46 T G 14: 54,409,814 (GRCm39) H7Q Het
Trav6-4 T A 14: 53,692,103 (GRCm39) L70Q possibly damaging Het
Trmt1l C T 1: 151,318,425 (GRCm39) T245I possibly damaging Het
Wac T A 18: 7,921,913 (GRCm39) C601S probably benign Het
Wnt3 T A 11: 103,702,266 (GRCm39) H145Q probably benign Het
Zfp948 T C 17: 21,808,628 (GRCm39) C607R probably damaging 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
R1808:Spaca3 UTSW 11 80,758,511 (GRCm39) missense probably damaging 0.97
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
R8750:Spaca3 UTSW 11 80,758,514 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- GGGCCAGGTAACATCTGTTTC -3'
(R):5'- TGTCAACTGAACTTTCTGAATTCCC -3'

Sequencing Primer
(F):5'- GGCCAGGTAACATCTGTTTCCATAG -3'
(R):5'- CATAATTCCCAACACTGAGGGTTAG -3'
Posted On 2019-11-26