Incidental Mutation 'IGL01930:Sval3'
ID180399
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sval3
Ensembl Gene ENSMUSG00000062833
Gene Nameseminal vesicle antigen-like 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock #IGL01930
Quality Score
Status
Chromosome6
Chromosomal Location41968140-41973090 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 41972521 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 98 (N98D)
Ref Sequence ENSEMBL: ENSMUSP00000079566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080742]
Predicted Effect probably benign
Transcript: ENSMUST00000080742
AA Change: N98D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000079566
Gene: ENSMUSG00000062833
AA Change: N98D

DomainStartEndE-ValueType
Pfam:SVA 3 123 4.7e-46 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810011H11Rik G A 14: 32,816,857 E92K probably benign Het
4930433N12Rik C T 9: 3,134,875 noncoding transcript Het
Acsf3 A G 8: 122,780,346 Y126C probably benign Het
Akr1c20 T A 13: 4,507,648 probably benign Het
Cdan1 T C 2: 120,726,582 probably benign Het
Cdc42bpg C T 19: 6,311,368 A308V probably damaging Het
Dek T C 13: 47,088,135 I318V probably benign Het
Dvl1 A G 4: 155,856,188 M422V possibly damaging Het
Erbin G A 13: 103,841,172 L626F probably damaging Het
Fa2h A T 8: 111,349,304 V229E possibly damaging Het
Gfpt1 T A 6: 87,059,415 H193Q possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gpr162 A G 6: 124,861,612 L25P possibly damaging Het
Hsd3b5 T C 3: 98,622,159 T52A probably benign Het
Megf8 T A 7: 25,334,861 V668D probably damaging Het
Olfr418 T C 1: 173,270,610 V145A probably benign Het
Prkdc A G 16: 15,698,887 T1042A probably damaging Het
Rasgrf2 A G 13: 91,982,738 S735P probably damaging Het
Serpina3n T A 12: 104,408,972 L101H probably damaging Het
Sipa1l2 T C 8: 125,419,239 D1674G probably damaging Het
Tbc1d16 G A 11: 119,156,075 R449C possibly damaging Het
Tm7sf3 A C 6: 146,610,933 I321S possibly damaging Het
Trappc13 A G 13: 104,148,078 probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr60 A G 12: 116,225,963 probably null Het
Wdr76 A G 2: 121,510,822 D116G possibly damaging Het
Zscan18 T C 7: 12,775,348 probably benign Het
Other mutations in Sval3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02004:Sval3 APN 6 41972842 splice site probably benign
IGL02366:Sval3 APN 6 41969725 splice site probably benign
R0256:Sval3 UTSW 6 41972905 missense probably damaging 0.98
R0310:Sval3 UTSW 6 41968186 missense probably damaging 1.00
R1796:Sval3 UTSW 6 41968162 missense probably benign 0.03
R6541:Sval3 UTSW 6 41972446 missense probably damaging 1.00
Posted On2014-05-07