Incidental Mutation 'R1941:Spaca6'
ID 214036
Institutional Source Beutler Lab
Gene Symbol Spaca6
Ensembl Gene ENSMUSG00000080316
Gene Name sperm acrosome associated 6
Synonyms B230206P06Rik, 4930546H06Rik, Ncrna00085
MMRRC Submission 039959-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R1941 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 18047420-18063271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18058692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 80 (E80G)
Ref Sequence ENSEMBL: ENSMUSP00000154630 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003762] [ENSMUST00000139969] [ENSMUST00000150302] [ENSMUST00000172097] [ENSMUST00000228490] [ENSMUST00000226899]
AlphaFold E9Q8Q8
Predicted Effect probably benign
Transcript: ENSMUST00000003762
SMART Domains Protein: ENSMUSP00000003762
Gene: ENSMUSG00000003665

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
low complexity region 78 86 N/A INTRINSIC
Pfam:Glyco_tranf_2_3 179 387 1.1e-21 PFAM
Pfam:Glyco_transf_21 205 386 1.2e-8 PFAM
Pfam:Chitin_synth_2 222 394 1.6e-16 PFAM
Pfam:Glyco_trans_2_3 237 453 5.6e-16 PFAM
transmembrane domain 464 486 N/A INTRINSIC
transmembrane domain 501 523 N/A INTRINSIC
transmembrane domain 544 566 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000012759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000052338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137228
Predicted Effect probably benign
Transcript: ENSMUST00000139969
SMART Domains Protein: ENSMUSP00000119658
Gene: ENSMUSG00000080316

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:IG 151 186 1e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000150302
Predicted Effect possibly damaging
Transcript: ENSMUST00000172097
AA Change: E297G

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128732
Gene: ENSMUSG00000080316
AA Change: E297G

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
IG 171 260 2.08e-1 SMART
transmembrane domain 310 332 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155293
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178056
Predicted Effect probably damaging
Transcript: ENSMUST00000228490
AA Change: E80G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000154301
SMART Domains Protein: ENSMUSP00000117377
Gene: ENSMUSG00000080316

DomainStartEndE-ValueType
Blast:IG 27 78 2e-32 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000226899
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.6%
  • 10x: 94.8%
  • 20x: 91.1%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a transgene insertion that inactivates this gene exhibit impaired fertilization and male infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b A C 7: 101,229,524 (GRCm39) F125C probably damaging Het
Camta1 T C 4: 151,159,612 (GRCm39) Y1616C probably damaging Het
Cep162 T G 9: 87,082,048 (GRCm39) I1286L probably benign Het
Chd9 T A 8: 91,703,697 (GRCm39) probably null Het
Col11a2 T A 17: 34,263,925 (GRCm39) S247T probably benign Het
Col6a4 T G 9: 105,952,209 (GRCm39) D563A probably benign Het
Crebbp C T 16: 3,997,555 (GRCm39) M176I probably benign Het
Cyp4a12b A G 4: 115,295,256 (GRCm39) N454S probably damaging Het
Dhx8 T C 11: 101,643,024 (GRCm39) probably null Het
Dock7 G A 4: 98,872,952 (GRCm39) L1165F probably benign Het
Fam117a A T 11: 95,271,624 (GRCm39) N399Y probably damaging Het
Fmn1 A G 2: 113,195,488 (GRCm39) K396R unknown Het
Foxk1 T A 5: 142,442,429 (GRCm39) V693E possibly damaging Het
Gml A G 15: 74,689,020 (GRCm39) L10P probably damaging Het
Gpx8 A G 13: 113,182,809 (GRCm39) L34P probably damaging Het
Kank2 A G 9: 21,684,162 (GRCm39) L689P possibly damaging Het
Mt4 G A 8: 94,864,874 (GRCm39) C16Y possibly damaging Het
Naa15 C A 3: 51,363,355 (GRCm39) Y346* probably null Het
Ntrk3 C T 7: 77,897,010 (GRCm39) V676I probably damaging Het
Oasl2 G A 5: 115,049,423 (GRCm39) probably benign Het
Or1e1c T A 11: 73,266,447 (GRCm39) F294I probably damaging Het
Or6c215 T A 10: 129,638,281 (GRCm39) M38L probably benign Het
Or6c8 T G 10: 128,915,823 (GRCm39) N3T probably damaging Het
Or7e169 G A 9: 19,757,246 (GRCm39) S223F probably damaging Het
Or7g20 A C 9: 18,947,162 (GRCm39) T248P possibly damaging Het
Otud7a C T 7: 63,379,574 (GRCm39) R273* probably null Het
Pcare T G 17: 72,059,063 (GRCm39) T205P probably damaging Het
Pde11a C T 2: 76,121,594 (GRCm39) R329Q probably benign Het
Pga5 G T 19: 10,646,820 (GRCm39) probably null Het
Ppp1r1a A G 15: 103,441,528 (GRCm39) probably null Het
Pus10 A G 11: 23,661,198 (GRCm39) Q262R possibly damaging Het
Rbm17 T C 2: 11,593,885 (GRCm39) K241R possibly damaging Het
Rp1l1 T G 14: 64,259,701 (GRCm39) D114E probably damaging Het
Safb T A 17: 56,905,992 (GRCm39) probably benign Het
Sgpl1 T C 10: 60,939,086 (GRCm39) Y371C probably damaging Het
Siglec1 C A 2: 130,920,051 (GRCm39) A827S possibly damaging Het
Smg5 T A 3: 88,252,687 (GRCm39) S158T possibly damaging Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Steap1 C A 5: 5,790,541 (GRCm39) A136S probably damaging Het
Supv3l1 G C 10: 62,285,391 (GRCm39) P25R probably benign Het
Tex21 T C 12: 76,268,458 (GRCm39) K108R possibly damaging Het
Tnc A G 4: 63,933,201 (GRCm39) Y688H probably damaging Het
Tnr G A 1: 159,677,704 (GRCm39) E30K possibly damaging Het
Tnrc18 G T 5: 142,800,905 (GRCm39) P18T probably damaging Het
Ttk T G 9: 83,735,179 (GRCm39) S422A probably benign Het
Ubap1 A G 4: 41,378,968 (GRCm39) K61E probably damaging Het
Ubr2 C T 17: 47,284,952 (GRCm39) R522H probably damaging Het
Vwf A T 6: 125,616,242 (GRCm39) E1185D possibly damaging Het
Wwp2 A G 8: 108,244,547 (GRCm39) T194A probably benign Het
Zfp36 A G 7: 28,077,071 (GRCm39) V279A probably damaging Het
Zfp870 C A 17: 33,101,778 (GRCm39) R517L possibly damaging Het
Other mutations in Spaca6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:Spaca6 APN 17 18,051,429 (GRCm39) missense probably benign 0.41
IGL02630:Spaca6 APN 17 18,051,351 (GRCm39) missense probably damaging 1.00
IGL03010:Spaca6 APN 17 18,058,667 (GRCm39) missense probably benign 0.01
IGL03352:Spaca6 APN 17 18,058,401 (GRCm39) missense probably damaging 1.00
R0021:Spaca6 UTSW 17 18,058,498 (GRCm39) nonsense probably null
R0964:Spaca6 UTSW 17 18,058,653 (GRCm39) missense possibly damaging 0.46
R1941:Spaca6 UTSW 17 18,058,664 (GRCm39) missense probably benign 0.05
R2197:Spaca6 UTSW 17 18,056,416 (GRCm39) critical splice donor site probably null
R2235:Spaca6 UTSW 17 18,058,507 (GRCm39) critical splice donor site probably null
R4602:Spaca6 UTSW 17 18,051,387 (GRCm39) missense probably damaging 0.99
R4645:Spaca6 UTSW 17 18,056,307 (GRCm39) intron probably benign
R4672:Spaca6 UTSW 17 18,057,005 (GRCm39) nonsense probably null
R5044:Spaca6 UTSW 17 18,051,458 (GRCm39) missense probably benign 0.00
R5212:Spaca6 UTSW 17 18,058,656 (GRCm39) missense probably benign 0.01
R5222:Spaca6 UTSW 17 18,058,367 (GRCm39) missense probably benign 0.02
R5528:Spaca6 UTSW 17 18,051,344 (GRCm39) missense probably benign
R5854:Spaca6 UTSW 17 18,051,509 (GRCm39) nonsense probably null
R6029:Spaca6 UTSW 17 18,051,458 (GRCm39) missense probably benign 0.00
R7041:Spaca6 UTSW 17 18,056,358 (GRCm39) missense probably benign 0.14
R7268:Spaca6 UTSW 17 18,052,369 (GRCm39) missense probably benign 0.09
R8281:Spaca6 UTSW 17 18,052,321 (GRCm39) missense possibly damaging 0.78
R8840:Spaca6 UTSW 17 18,051,365 (GRCm39) missense possibly damaging 0.59
R8926:Spaca6 UTSW 17 18,058,790 (GRCm39) critical splice donor site probably null
R8965:Spaca6 UTSW 17 18,058,718 (GRCm39) missense probably damaging 0.98
R9404:Spaca6 UTSW 17 18,057,800 (GRCm39) missense probably damaging 1.00
R9651:Spaca6 UTSW 17 18,057,829 (GRCm39) missense probably benign 0.14
R9713:Spaca6 UTSW 17 18,058,498 (GRCm39) nonsense probably null
Z1177:Spaca6 UTSW 17 18,051,314 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- GCGGCTCTACTTTTATCTGAACG -3'
(R):5'- GAAGACTTGGGTTGGACTGC -3'

Sequencing Primer
(F):5'- CGGGCGGGGTGAGGATATG -3'
(R):5'- TCACCACACTAGCAGAGTA -3'
Posted On 2014-07-14