Incidental Mutation 'R2312:Spaca3'
ID 247360
Institutional Source Beutler Lab
Gene Symbol Spaca3
Ensembl Gene ENSMUSG00000053184
Gene Name sperm acrosome associated 3
Synonyms SLLP1, 1700025M08Rik, ALLP17
MMRRC Submission 040311-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.596) question?
Stock # R2312 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 80749191-80758640 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80754037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 58 (Y58F)
Ref Sequence ENSEMBL: ENSMUSP00000099512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103222] [ENSMUST00000103223]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000103222
AA Change: Y58F

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099511
Gene: ENSMUSG00000053184
AA Change: Y58F

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
LYZ1 36 162 1.26e-57 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000103223
AA Change: Y58F

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099512
Gene: ENSMUSG00000053184
AA Change: Y58F

DomainStartEndE-ValueType
low complexity region 20 33 N/A INTRINSIC
LYZ1 36 162 1.26e-57 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137411
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.5%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp12 A G 1: 92,934,531 (GRCm39) E136G probably benign Het
Bltp3b A G 10: 89,616,995 (GRCm39) T179A probably damaging Het
Cdhr4 G A 9: 107,872,486 (GRCm39) V244I probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crygf A T 1: 65,965,717 (GRCm39) M1L probably benign Het
Dapk1 G T 13: 60,905,167 (GRCm39) C959F probably damaging Het
Dop1a C G 9: 86,403,495 (GRCm39) S1565* probably null Het
Eya4 A G 10: 22,982,163 (GRCm39) S622P probably damaging Het
Fbln1 T C 15: 85,147,549 (GRCm39) V598A probably benign Het
Gldc A T 19: 30,078,226 (GRCm39) F924I probably damaging Het
H1f10 T C 6: 87,958,130 (GRCm39) Y70C probably damaging Het
Herc1 C A 9: 66,415,563 (GRCm39) S4846* probably null Het
Jmjd1c A T 10: 67,074,629 (GRCm39) K1917N probably damaging Het
Kcnh2 A G 5: 24,529,952 (GRCm39) probably null Het
Lmtk2 T C 5: 144,110,444 (GRCm39) F388S probably damaging Het
Lpar1 A C 4: 58,487,168 (GRCm39) Y34* probably null Het
Lrpprc G A 17: 85,080,686 (GRCm39) P180S probably damaging Het
Mex3a A G 3: 88,443,785 (GRCm39) H287R probably damaging Het
Nid1 A G 13: 13,675,078 (GRCm39) T933A probably benign Het
Or52r1c A G 7: 102,735,633 (GRCm39) T298A probably damaging Het
Pcdhb7 A G 18: 37,475,250 (GRCm39) T129A probably benign Het
Pfkm T A 15: 98,023,456 (GRCm39) Y385N probably damaging Het
Prmt2 G A 10: 76,062,089 (GRCm39) Q39* probably null Het
Prx T C 7: 27,216,051 (GRCm39) V184A possibly damaging Het
Ptgdr A C 14: 45,096,619 (GRCm39) L31R probably damaging Het
Rab3b A G 4: 108,747,691 (GRCm39) T63A probably damaging Het
Rassf1 T C 9: 107,434,749 (GRCm39) M156T probably damaging Het
Rhobtb1 C A 10: 69,106,293 (GRCm39) S286* probably null Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rmnd1 A T 10: 4,377,466 (GRCm39) M71K probably benign Het
Rnf130 T A 11: 49,978,290 (GRCm39) probably null Het
Rxrb T A 17: 34,251,103 (GRCm39) probably benign Het
Ryr2 G T 13: 11,753,128 (GRCm39) T1731K probably damaging Het
Serpine2 A T 1: 79,780,570 (GRCm39) L293Q probably damaging Het
Skint6 T C 4: 113,095,339 (GRCm39) T107A probably damaging Het
Slc9a8 T A 2: 167,293,196 (GRCm39) H181Q probably benign Het
Sptbn1 T C 11: 30,104,249 (GRCm39) T152A probably damaging Het
Tlr2 A G 3: 83,744,847 (GRCm39) L412P probably damaging Het
Trak2 A G 1: 58,974,941 (GRCm39) S84P probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm2 C A 10: 77,754,798 (GRCm39) E1229D probably benign Het
Ttc14 A G 3: 33,861,984 (GRCm39) probably null Het
Tyrp1 G A 4: 80,755,801 (GRCm39) W190* probably null Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vegfb C A 19: 6,962,795 (GRCm39) R160L possibly damaging Het
Vmn1r220 A G 13: 23,368,147 (GRCm39) M183T probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Wnt10a C A 1: 74,842,589 (GRCm39) A355E possibly 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
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'- ATCGCATGGAAGCTAGGAGC -3'
(R):5'- TTTAATCCTCATGGCCAAGATAGG -3'

Sequencing Primer
(F):5'- CCGGGCTCCCAGAAGACAG -3'
(R):5'- TCCTCATGGCCAAGATAGGATGTAG -3'
Posted On 2014-11-11