Incidental Mutation 'IGL01433:Spaca6'
ID84253
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spaca6
Ensembl Gene ENSMUSG00000080316
Gene Namesperm acrosome associated 6
SynonymsB230206P06Rik, 4930546H06Rik, Ncrna00085
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #IGL01433
Quality Score
Status
Chromosome17
Chromosomal Location17827158-17843009 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 17831167 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 35 (V35A)
Ref Sequence ENSEMBL: ENSMUSP00000119658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000139969] [ENSMUST00000150302] [ENSMUST00000172097] [ENSMUST00000228490] [ENSMUST00000226899]
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: V35A

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119658
Gene: ENSMUSG00000080316
AA Change: V35A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Blast:IG 151 186 1e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000150302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155293
Predicted Effect probably benign
Transcript: ENSMUST00000172097
AA Change: V55A

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000128732
Gene: ENSMUSG00000080316
AA Change: V55A

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: ENSMUST00000175058
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177859
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178408
Predicted Effect probably benign
Transcript: ENSMUST00000228490
Predicted Effect probably benign
Transcript: ENSMUST00000226899
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011H14Rik G T 14: 49,235,884 T128K probably benign Het
4932438A13Rik T G 3: 36,887,770 S241R probably damaging Het
9030624J02Rik A G 7: 118,774,051 probably null Het
Actrt3 C T 3: 30,598,039 G302D probably damaging Het
Adam19 T C 11: 46,112,783 L146P probably damaging Het
Adcy8 T A 15: 64,737,414 Y852F possibly damaging Het
Arfgef1 T C 1: 10,153,432 T1520A probably damaging Het
Atp8b1 C T 18: 64,573,519 V199I probably benign Het
Avl9 A G 6: 56,753,397 D575G probably damaging Het
Bcam C A 7: 19,760,182 V395L possibly damaging Het
Cgn T A 3: 94,779,459 N178Y probably damaging Het
D5Ertd579e A T 5: 36,618,754 D168E probably damaging Het
Dnah17 G T 11: 118,049,934 T3288K probably damaging Het
Ednrb A T 14: 103,843,190 I96N probably damaging Het
Gdpd3 A G 7: 126,771,184 I264V possibly damaging Het
Itih4 T C 14: 30,895,448 V575A probably benign Het
Jhy G A 9: 40,917,216 R465C possibly damaging Het
Kcna4 C T 2: 107,296,733 S604F probably damaging Het
Kcnj6 A G 16: 94,832,955 V99A probably benign Het
Kdm2a A G 19: 4,342,860 I489T possibly damaging Het
Kif13a A G 13: 46,772,908 S241P probably damaging Het
Lax1 T C 1: 133,680,399 I201M probably benign Het
Lzic T A 4: 149,488,147 S65T probably benign Het
March9 T C 10: 127,056,693 T309A probably benign Het
Ndufc1 T C 3: 51,407,376 K70E possibly damaging Het
Olfr635 A T 7: 103,979,332 I53F probably damaging Het
Optn T C 2: 5,027,144 K504R probably benign Het
Pagr1a A G 7: 127,015,475 probably benign Het
Pold1 G A 7: 44,543,232 probably benign Het
Ptprq A G 10: 107,576,880 I1786T probably damaging Het
Rgs20 T C 1: 5,070,077 D34G possibly damaging Het
Rnps1 T C 17: 24,424,545 probably null Het
Rpgrip1 T C 14: 52,126,377 V261A probably damaging Het
Sfxn1 A G 13: 54,093,916 N220S probably benign Het
Slc35f1 T A 10: 53,073,446 probably benign Het
Slc5a4b T C 10: 76,070,495 probably benign Het
Snx19 A G 9: 30,428,771 I402V possibly damaging Het
Taar2 A G 10: 23,940,759 T66A probably benign Het
Tanc2 C T 11: 105,810,522 H288Y possibly damaging Het
Tbc1d31 A G 15: 57,940,768 Q393R probably benign Het
Trpm1 A G 7: 64,204,528 Y133C probably damaging Het
Vmn2r105 T C 17: 20,228,555 D120G probably benign Het
Vmn2r56 C A 7: 12,715,614 M232I probably benign Het
Zfp251 C T 15: 76,854,555 V113I probably benign Het
Other mutations in Spaca6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02630:Spaca6 APN 17 17831089 missense probably damaging 1.00
IGL03010:Spaca6 APN 17 17838405 missense probably benign 0.01
IGL03352:Spaca6 APN 17 17838139 missense probably damaging 1.00
R0021:Spaca6 UTSW 17 17838236 nonsense probably null
R0964:Spaca6 UTSW 17 17838391 missense possibly damaging 0.46
R1941:Spaca6 UTSW 17 17838402 missense probably benign 0.05
R1941:Spaca6 UTSW 17 17838430 missense probably damaging 0.99
R2197:Spaca6 UTSW 17 17836154 critical splice donor site probably null
R2235:Spaca6 UTSW 17 17838245 critical splice donor site probably null
R4602:Spaca6 UTSW 17 17831125 missense probably damaging 0.99
R4645:Spaca6 UTSW 17 17836045 intron probably benign
R4672:Spaca6 UTSW 17 17836743 nonsense probably null
R5044:Spaca6 UTSW 17 17831196 missense probably benign 0.00
R5212:Spaca6 UTSW 17 17838394 missense probably benign 0.01
R5222:Spaca6 UTSW 17 17838105 missense probably benign 0.02
R5528:Spaca6 UTSW 17 17831082 missense probably benign
R5854:Spaca6 UTSW 17 17831247 nonsense probably null
R6029:Spaca6 UTSW 17 17831196 missense probably benign 0.00
R7041:Spaca6 UTSW 17 17836096 missense probably benign 0.14
R7268:Spaca6 UTSW 17 17832107 missense probably benign 0.09
R8281:Spaca6 UTSW 17 17832059 missense possibly damaging 0.78
Z1177:Spaca6 UTSW 17 17831052 missense probably benign 0.18
Posted On2013-11-11