Incidental Mutation 'IGL01923:Sva'
ID 180154
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sva
Ensembl Gene ENSMUSG00000023289
Gene Name seminal vesicle antigen
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL01923
Quality Score
Status
Chromosome 6
Chromosomal Location 42015328-42019785 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 42019104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 91 (H91Q)
Ref Sequence ENSEMBL: ENSMUSP00000112528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024059] [ENSMUST00000117406]
AlphaFold E9PX96
Predicted Effect probably benign
Transcript: ENSMUST00000024059
AA Change: H84Q

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000024059
Gene: ENSMUSG00000023289
AA Change: H84Q

DomainStartEndE-ValueType
Pfam:SVA 3 135 4.3e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117406
AA Change: H91Q

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112528
Gene: ENSMUSG00000023289
AA Change: H91Q

DomainStartEndE-ValueType
Pfam:SVA 10 142 7.3e-48 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T A 5: 129,255,143 (GRCm39) S597T possibly damaging Het
Btnl9 T C 11: 49,071,409 (GRCm39) D138G probably benign Het
Cep135 T A 5: 76,788,829 (GRCm39) *1141K probably null Het
Ctnnd2 A T 15: 30,480,974 (GRCm39) Q74L probably damaging Het
Cyp2j13 A T 4: 95,950,294 (GRCm39) W236R probably benign Het
Dixdc1 A T 9: 50,606,803 (GRCm39) I271N possibly damaging Het
Dlec1 A G 9: 118,957,182 (GRCm39) probably null Het
Dnah9 C A 11: 66,016,061 (GRCm39) probably benign Het
Dop1a A T 9: 86,404,920 (GRCm39) Y275F probably damaging Het
Dysf T A 6: 84,187,811 (GRCm39) *2105R probably null Het
Eif4a1 A T 11: 69,563,129 (GRCm39) D25E possibly damaging Het
Fras1 T A 5: 96,883,139 (GRCm39) I2557N probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm12253 G T 11: 58,325,727 (GRCm39) probably null Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hsd17b7 A G 1: 169,787,035 (GRCm39) V254A probably benign Het
Kif21a T A 15: 90,840,633 (GRCm39) D143V probably damaging Het
Lrrc9 T C 12: 72,557,186 (GRCm39) V1417A possibly damaging Het
Macf1 C T 4: 123,274,237 (GRCm39) A4926T possibly damaging Het
Mef2a A C 7: 66,914,620 (GRCm39) S91R probably damaging Het
Myh7 A G 14: 55,222,916 (GRCm39) probably null Het
Or6c65 T A 10: 129,603,973 (GRCm39) F203I probably benign Het
Pbx2 A G 17: 34,813,024 (GRCm39) D160G probably damaging Het
Pcdhb17 T C 18: 37,619,790 (GRCm39) F527L probably benign Het
Ppm1b T C 17: 85,301,489 (GRCm39) L123P probably damaging Het
Ppm1k T A 6: 57,499,813 (GRCm39) K154N probably benign Het
Ppp2r1a T G 17: 21,185,731 (GRCm39) *590G probably null Het
Raver1 A T 9: 20,990,536 (GRCm39) L589Q probably damaging Het
Rrbp1 A G 2: 143,832,081 (GRCm39) S29P probably damaging Het
Senp5 A G 16: 31,784,634 (GRCm39) Y673H probably damaging Het
Serpina3j T A 12: 104,281,473 (GRCm39) probably benign Het
Serpinc1 A G 1: 160,817,116 (GRCm39) E70G probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Stag3 A G 5: 138,287,492 (GRCm39) Q139R probably damaging Het
Tmem263 C T 10: 84,950,295 (GRCm39) Q29* probably null Het
Tpp1 T C 7: 105,400,857 (GRCm39) N57D probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r27 T A 6: 124,177,484 (GRCm39) I507L probably benign Het
Wdr11 A T 7: 129,234,046 (GRCm39) probably null Het
Zfp236 C T 18: 82,700,344 (GRCm39) E42K probably damaging Het
Other mutations in Sva
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02229:Sva APN 6 42,019,156 (GRCm39) missense probably damaging 0.98
IGL02800:Sva APN 6 42,017,069 (GRCm39) missense unknown
R2223:Sva UTSW 6 42,015,357 (GRCm39) start codon destroyed probably null 0.86
R2926:Sva UTSW 6 42,019,596 (GRCm39) missense possibly damaging 0.91
R4593:Sva UTSW 6 42,019,592 (GRCm39) missense possibly damaging 0.93
R5069:Sva UTSW 6 42,015,351 (GRCm39) utr 5 prime probably benign
R5150:Sva UTSW 6 42,019,093 (GRCm39) missense probably benign 0.03
R6044:Sva UTSW 6 42,017,034 (GRCm39) missense probably benign 0.09
R7545:Sva UTSW 6 42,019,148 (GRCm39) missense probably benign 0.07
R7627:Sva UTSW 6 42,019,598 (GRCm39) missense unknown
R8745:Sva UTSW 6 42,015,357 (GRCm39) start codon destroyed probably null 0.86
R8772:Sva UTSW 6 42,015,443 (GRCm39) missense probably benign 0.39
R8924:Sva UTSW 6 42,019,182 (GRCm39) missense possibly damaging 0.88
R9229:Sva UTSW 6 42,017,052 (GRCm39) missense probably benign 0.08
R9229:Sva UTSW 6 42,017,050 (GRCm39) missense possibly damaging 0.63
Posted On 2014-05-07