Incidental Mutation 'IGL01294:Gm4353'
ID 73030
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4353
Ensembl Gene ENSMUSG00000091900
Gene Name predicted gene 4353
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # IGL01294
Quality Score
Status
Chromosome 7
Chromosomal Location 115682602-115683793 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115683077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 168 (D168V)
Ref Sequence ENSEMBL: ENSMUSP00000107385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111755] [ENSMUST00000205427] [ENSMUST00000205450]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000111755
AA Change: D168V

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107385
Gene: ENSMUSG00000091900
AA Change: D168V

DomainStartEndE-ValueType
Pfam:Nup35_RRM 166 251 8.2e-30 PFAM
Pfam:Nup35_RRM_2 172 224 9.5e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140689
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150518
Predicted Effect probably benign
Transcript: ENSMUST00000205427
Predicted Effect probably benign
Transcript: ENSMUST00000205450
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A T 7: 127,836,291 (GRCm39) S101T probably benign Het
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Arglu1 G T 8: 8,733,739 (GRCm39) probably benign Het
Cacna2d2 T G 9: 107,391,280 (GRCm39) Y436D probably damaging Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Cpne8 G A 15: 90,385,648 (GRCm39) S460L probably damaging Het
Crat G A 2: 30,295,199 (GRCm39) A436V probably damaging Het
Dmd T C X: 83,475,604 (GRCm39) probably null Het
Emilin2 G T 17: 71,581,589 (GRCm39) A379E probably benign Het
Ercc2 A G 7: 19,124,342 (GRCm39) I445V probably benign Het
Evc2 T C 5: 37,504,854 (GRCm39) probably null Het
Filip1l A T 16: 57,392,711 (GRCm39) K1100* probably null Het
Hsf4 G T 8: 106,002,289 (GRCm39) *417L probably null Het
Kmt2a A G 9: 44,731,594 (GRCm39) probably benign Het
Macroh2a1 A T 13: 56,222,113 (GRCm39) V346E probably damaging Het
Mpzl1 A G 1: 165,421,177 (GRCm39) S261P probably damaging Het
Mre11a T C 9: 14,742,211 (GRCm39) S621P probably damaging Het
Muc6 T C 7: 141,232,926 (GRCm39) Y934C probably damaging Het
Naip5 A G 13: 100,353,588 (GRCm39) S1224P probably damaging Het
Nwd1 A T 8: 73,438,373 (GRCm39) N1474Y probably damaging Het
Or2ag20 T C 7: 106,464,970 (GRCm39) L261S probably damaging Het
Ptbp2 A G 3: 119,541,461 (GRCm39) V192A probably damaging Het
Rfx2 T C 17: 57,090,657 (GRCm39) Y421C probably damaging Het
Sfmbt2 T A 2: 10,595,232 (GRCm39) probably benign Het
Slc4a10 A C 2: 62,083,653 (GRCm39) probably null Het
Slitrk6 T C 14: 110,987,506 (GRCm39) M734V probably benign Het
Tap1 T C 17: 34,413,019 (GRCm39) probably null Het
Tep1 A G 14: 51,067,114 (GRCm39) probably benign Het
Uba6 T A 5: 86,297,907 (GRCm39) I256L possibly damaging Het
Wnt3 A T 11: 103,699,140 (GRCm39) H82L possibly damaging Het
Other mutations in Gm4353
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Gm4353 APN 7 115,682,789 (GRCm39) missense probably damaging 0.99
IGL01478:Gm4353 APN 7 115,682,975 (GRCm39) missense possibly damaging 0.82
IGL02444:Gm4353 APN 7 115,682,679 (GRCm39) missense probably benign 0.03
IGL02537:Gm4353 APN 7 115,682,987 (GRCm39) missense probably damaging 1.00
R0501:Gm4353 UTSW 7 115,682,706 (GRCm39) missense probably benign 0.33
R1853:Gm4353 UTSW 7 115,682,804 (GRCm39) missense probably benign
R2061:Gm4353 UTSW 7 115,682,934 (GRCm39) missense probably damaging 1.00
R4540:Gm4353 UTSW 7 115,683,212 (GRCm39) missense probably benign 0.00
R4597:Gm4353 UTSW 7 115,682,847 (GRCm39) nonsense probably null
R4873:Gm4353 UTSW 7 115,683,648 (GRCm39) missense probably damaging 0.99
R4875:Gm4353 UTSW 7 115,683,648 (GRCm39) missense probably damaging 0.99
R5668:Gm4353 UTSW 7 115,682,913 (GRCm39) missense probably damaging 1.00
R5820:Gm4353 UTSW 7 115,683,693 (GRCm39) missense possibly damaging 0.46
R6061:Gm4353 UTSW 7 115,683,504 (GRCm39) missense probably benign 0.39
R6237:Gm4353 UTSW 7 115,683,134 (GRCm39) missense possibly damaging 0.88
R7177:Gm4353 UTSW 7 115,683,727 (GRCm39) missense probably damaging 1.00
R7354:Gm4353 UTSW 7 115,683,146 (GRCm39) missense probably benign 0.01
R7777:Gm4353 UTSW 7 115,682,998 (GRCm39) missense possibly damaging 0.96
R7971:Gm4353 UTSW 7 115,682,747 (GRCm39) missense possibly damaging 0.64
R8236:Gm4353 UTSW 7 115,682,618 (GRCm39) missense probably damaging 1.00
R8419:Gm4353 UTSW 7 115,682,784 (GRCm39) missense probably benign 0.09
R8436:Gm4353 UTSW 7 115,682,864 (GRCm39) missense probably damaging 1.00
R9109:Gm4353 UTSW 7 115,682,843 (GRCm39) missense probably benign 0.00
R9226:Gm4353 UTSW 7 115,683,006 (GRCm39) missense probably damaging 1.00
R9298:Gm4353 UTSW 7 115,682,843 (GRCm39) missense probably benign 0.00
R9328:Gm4353 UTSW 7 115,682,724 (GRCm39) missense probably damaging 1.00
R9433:Gm4353 UTSW 7 115,682,871 (GRCm39) missense probably damaging 0.99
Posted On 2013-10-07