Incidental Mutation 'R5528:Spaca6'
ID 433551
Institutional Source Beutler Lab
Gene Symbol Spaca6
Ensembl Gene ENSMUSG00000080316
Gene Name sperm acrosome associated 6
Synonyms B230206P06Rik, 4930546H06Rik, Ncrna00085
MMRRC Submission 043086-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R5528 (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 C at 18051344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 27 (I27L)
Ref Sequence ENSEMBL: ENSMUSP00000128732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000139969] [ENSMUST00000172097] [ENSMUST00000226899] [ENSMUST00000150302] [ENSMUST00000228490]
AlphaFold E9Q8Q8
Predicted Effect noncoding transcript
Transcript: ENSMUST00000012759
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133912
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137228
Predicted Effect probably benign
Transcript: ENSMUST00000139969
AA Change: I7L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119658
Gene: ENSMUSG00000080316
AA Change: I7L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:IG 151 186 1e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000172097
AA Change: I27L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128732
Gene: ENSMUSG00000080316
AA Change: I27L

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: ENSMUST00000178408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155293
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196737
Predicted Effect probably benign
Transcript: ENSMUST00000226899
Predicted Effect probably benign
Transcript: ENSMUST00000150302
Predicted Effect probably benign
Transcript: ENSMUST00000228490
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 95.4%
  • 20x: 91.4%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,772,260 (GRCm39) L483P probably benign Het
4930519G04Rik T G 5: 115,012,415 (GRCm39) probably null Het
Ablim2 C T 5: 36,013,510 (GRCm39) Q148* probably null Het
Ap3s2 A T 7: 79,530,234 (GRCm39) *194R probably null Het
Arpp21 C T 9: 111,978,421 (GRCm39) A235T probably benign Het
C9orf72 T C 4: 35,213,556 (GRCm39) D198G probably benign Het
Ccdc33 T C 9: 57,936,078 (GRCm39) D939G probably benign Het
Celsr2 A T 3: 108,320,610 (GRCm39) I734N probably damaging Het
Clcn1 C A 6: 42,277,275 (GRCm39) N455K probably benign Het
Cpne8 C T 15: 90,503,893 (GRCm39) V91I possibly damaging Het
Cstdc7 A G 18: 42,306,727 (GRCm39) probably null Het
Ddx1 A G 12: 13,279,295 (GRCm39) V448A probably damaging Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Eeig1 G A 2: 32,456,339 (GRCm39) A334T probably damaging Het
Eif2a G T 3: 58,455,933 (GRCm39) D311Y probably damaging Het
Eif2ak4 G A 2: 118,258,419 (GRCm39) E512K probably damaging Het
Esp15 A T 17: 39,955,640 (GRCm39) Y69F probably benign Het
Gucy1a1 A T 3: 82,016,380 (GRCm39) Y203N probably damaging Het
Hook3 T C 8: 26,562,321 (GRCm39) Q248R probably damaging Het
Ifit2 T A 19: 34,550,937 (GRCm39) V159E possibly damaging Het
Il17rd T C 14: 26,810,024 (GRCm39) V20A possibly damaging Het
Kcnq3 T A 15: 65,897,027 (GRCm39) D291V probably damaging Het
Klf11 A T 12: 24,704,929 (GRCm39) M111L probably benign Het
Lama5 T A 2: 179,836,356 (GRCm39) H1165L probably benign Het
Lmo7 A G 14: 102,139,522 (GRCm39) N702S probably damaging Het
Lta4h T C 10: 93,307,736 (GRCm39) V323A probably damaging Het
Mkrn3 T C 7: 62,068,735 (GRCm39) E352G possibly damaging Het
Ms4a19 T C 19: 11,118,999 (GRCm39) S37G possibly damaging Het
Mtf2 T A 5: 108,242,023 (GRCm39) L277Q probably damaging Het
Myo9b A G 8: 71,775,918 (GRCm39) N370D probably benign Het
Nlrp4e A C 7: 23,036,316 (GRCm39) K723T probably benign Het
Nsun3 A G 16: 62,555,689 (GRCm39) V279A possibly damaging Het
Pde6b A G 5: 108,571,424 (GRCm39) D459G probably benign Het
Phgdh T C 3: 98,235,655 (GRCm39) I121V probably benign Het
Pik3r5 T C 11: 68,386,803 (GRCm39) C811R probably damaging Het
Trmt1l G A 1: 151,330,746 (GRCm39) V588I probably benign Het
Tshr A G 12: 91,503,967 (GRCm39) N302D probably damaging Het
Vmn2r23 A G 6: 123,689,961 (GRCm39) D279G probably damaging Het
Wnt3a T C 11: 59,166,106 (GRCm39) N58S probably damaging Het
Zkscan8 A G 13: 21,704,895 (GRCm39) V276A probably 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 18,058,692 (GRCm39) missense probably damaging 0.99
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
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'- TAGGGATTTCAGGTGACCCC -3'
(R):5'- CTTGGAGTAGCTCAAGGAATCTC -3'

Sequencing Primer
(F):5'- GTGACCCCTGGCAACCTTC -3'
(R):5'- AGGGGCTCCTCACTGATTTTCATG -3'
Posted On 2016-10-06