Incidental Mutation 'IGL02992:Svbp'
ID 406985
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Svbp
Ensembl Gene ENSMUSG00000028643
Gene Name small vasohibin binding protein
Synonyms Svbp, Ccdc23, 2410005K17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # IGL02992
Quality Score
Status
Chromosome 4
Chromosomal Location 119052507-119058495 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119053127 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 8 (E8G)
Ref Sequence ENSEMBL: ENSMUSP00000147292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030395] [ENSMUST00000097908] [ENSMUST00000106345] [ENSMUST00000210595]
AlphaFold Q99LQ4
Predicted Effect probably damaging
Transcript: ENSMUST00000030395
AA Change: E8G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000097908
AA Change: E44G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect unknown
Transcript: ENSMUST00000106345
AA Change: E8G
Predicted Effect probably damaging
Transcript: ENSMUST00000210595
AA Change: E8G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,921,935 (GRCm39) K1164E probably damaging Het
Arhgap42 G A 9: 8,998,249 (GRCm39) probably benign Het
Arhgef12 T C 9: 42,910,373 (GRCm39) D612G probably damaging Het
Cpne3 T C 4: 19,532,486 (GRCm39) D309G probably benign Het
Daw1 T C 1: 83,174,934 (GRCm39) probably benign Het
Daxx T A 17: 34,130,722 (GRCm39) C246S probably damaging Het
Dpp7 T C 2: 25,244,589 (GRCm39) D264G possibly damaging Het
Dync2h1 T A 9: 7,137,074 (GRCm39) H1472L probably benign Het
Fastkd2 T C 1: 63,777,083 (GRCm39) probably benign Het
Fcrl2 T G 3: 87,166,773 (GRCm39) R73S probably damaging Het
Gatb A G 3: 85,526,223 (GRCm39) D367G probably damaging Het
Gm20547 T A 17: 35,076,095 (GRCm39) E654V probably damaging Het
Gm839 T A 6: 89,189,509 (GRCm39) noncoding transcript Het
Gtf2ird2 A T 5: 134,246,456 (GRCm39) M905L possibly damaging Het
Hoxb2 A T 11: 96,243,910 (GRCm39) I174F probably damaging Het
Hrh3 A G 2: 179,742,608 (GRCm39) V308A probably benign Het
Ints9 A G 14: 65,217,613 (GRCm39) K47E probably benign Het
Irak3 A T 10: 120,018,566 (GRCm39) Y61N probably damaging Het
Itpr1 A G 6: 108,358,276 (GRCm39) E614G probably damaging Het
Lgals3 A T 14: 47,622,982 (GRCm39) I214L probably benign Het
Msh4 G T 3: 153,577,962 (GRCm39) T444K possibly damaging Het
Myh7b C A 2: 155,463,330 (GRCm39) Q521K probably damaging Het
Naip5 T A 13: 100,359,536 (GRCm39) I567F probably damaging Het
Nf1 A G 11: 79,325,759 (GRCm39) probably benign Het
Nlrc3 C T 16: 3,771,887 (GRCm39) probably benign Het
Nlrc5 A C 8: 95,233,201 (GRCm39) E1353A possibly damaging Het
Nr1h3 T A 2: 91,020,911 (GRCm39) I260F probably damaging Het
Pcnx1 G A 12: 82,010,894 (GRCm39) R1211Q probably damaging Het
Pde10a A G 17: 9,168,293 (GRCm39) K605E probably damaging Het
Pdzd2 T C 15: 12,382,708 (GRCm39) E1215G possibly damaging Het
Pex12 A G 11: 83,188,753 (GRCm39) S81P probably damaging Het
Pik3c2b C A 1: 132,994,718 (GRCm39) Y227* probably null Het
Ppef2 C T 5: 92,383,759 (GRCm39) W450* probably null Het
Prkg2 T G 5: 99,172,365 (GRCm39) S117R probably benign Het
Prl3d2 A T 13: 27,311,266 (GRCm39) E179D probably benign Het
Relch T A 1: 105,647,189 (GRCm39) L684M possibly damaging Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Scn10a T C 9: 119,438,626 (GRCm39) T1748A possibly damaging Het
Septin10 T C 10: 59,028,000 (GRCm39) N107S possibly damaging Het
Smu1 T A 4: 40,739,550 (GRCm39) N420I probably damaging Het
Sos1 A G 17: 80,726,445 (GRCm39) F835L probably benign Het
Spg11 T C 2: 121,888,879 (GRCm39) D2164G probably damaging Het
Tgm3 T A 2: 129,883,899 (GRCm39) M519K probably damaging Het
Tspan12 A G 6: 21,799,876 (GRCm39) probably null Het
Vps52 T C 17: 34,177,324 (GRCm39) V122A probably damaging Het
Wipf1 T C 2: 73,264,427 (GRCm39) Y458C probably damaging Het
Zfp369 T A 13: 65,442,265 (GRCm39) D286E possibly damaging Het
Other mutations in Svbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1401:Svbp UTSW 4 119,053,225 (GRCm39) splice site probably benign
R3975:Svbp UTSW 4 119,053,090 (GRCm39) missense probably benign 0.26
Posted On 2016-08-02