Incidental Mutation 'IGL01478:Gm4353'
ID88510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4353
Ensembl Gene ENSMUSG00000091900
Gene Namepredicted gene 4353
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.142) question?
Stock #IGL01478
Quality Score
Status
Chromosome7
Chromosomal Location116082863-116084635 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 116083740 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 202 (V202A)
Ref Sequence ENSEMBL: ENSMUSP00000107385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111755] [ENSMUST00000205427] [ENSMUST00000205450]
Predicted Effect possibly damaging
Transcript: ENSMUST00000111755
AA Change: V202A

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107385
Gene: ENSMUSG00000091900
AA Change: V202A

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,934,609 T613A probably benign Het
Cdh16 G T 8: 104,614,488 probably benign Het
Epn2 A G 11: 61,523,086 S419P probably benign Het
Eral1 A T 11: 78,075,732 V234D probably damaging Het
Fhad1 T C 4: 141,951,638 K576E possibly damaging Het
Frmd4b T A 6: 97,328,293 D170V probably damaging Het
Ighmbp2 A G 19: 3,274,531 I245T probably benign Het
Igsf23 G A 7: 19,938,236 probably benign Het
Krt1 A G 15: 101,846,286 probably benign Het
Mapk8 A G 14: 33,383,900 V371A probably benign Het
Mtrf1 T G 14: 79,402,920 probably benign Het
Myzap A G 9: 71,515,067 probably null Het
Nsrp1 C T 11: 77,050,652 V73I probably benign Het
Olfr1089 A T 2: 86,733,329 Y94* probably null Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr670 A G 7: 104,960,348 I128T probably damaging Het
Pex6 C T 17: 46,725,304 R976C probably benign Het
Ranbp9 G A 13: 43,414,084 T546I probably benign Het
Rfx5 T C 3: 94,958,440 V350A possibly damaging Het
Rnf19b A G 4: 129,058,830 E187G probably damaging Het
Sbf1 A G 15: 89,299,743 V1217A probably damaging Het
Sfmbt1 T A 14: 30,811,521 D618E probably damaging Het
Sipa1l1 A G 12: 82,446,898 E1697G probably benign Het
Syk A G 13: 52,624,748 Y290C probably benign Het
Trim69 T C 2: 122,178,443 L328P probably damaging Het
Unc5c T A 3: 141,828,451 I911N probably damaging Het
Wdr5 T C 2: 27,533,832 V294A probably damaging Het
Other mutations in Gm4353
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Gm4353 APN 7 116083554 missense probably damaging 0.99
IGL01294:Gm4353 APN 7 116083842 missense possibly damaging 0.52
IGL02444:Gm4353 APN 7 116083444 missense probably benign 0.03
IGL02537:Gm4353 APN 7 116083752 missense probably damaging 1.00
R0501:Gm4353 UTSW 7 116083471 missense probably benign 0.33
R1853:Gm4353 UTSW 7 116083569 missense probably benign
R2061:Gm4353 UTSW 7 116083699 missense probably damaging 1.00
R4540:Gm4353 UTSW 7 116083977 missense probably benign 0.00
R4597:Gm4353 UTSW 7 116083612 nonsense probably null
R4873:Gm4353 UTSW 7 116084413 missense probably damaging 0.99
R4875:Gm4353 UTSW 7 116084413 missense probably damaging 0.99
R5668:Gm4353 UTSW 7 116083678 missense probably damaging 1.00
R5820:Gm4353 UTSW 7 116084458 missense possibly damaging 0.46
R6061:Gm4353 UTSW 7 116084269 missense probably benign 0.39
R6237:Gm4353 UTSW 7 116083899 missense possibly damaging 0.88
R7177:Gm4353 UTSW 7 116084492 missense probably damaging 1.00
R7354:Gm4353 UTSW 7 116083911 missense probably benign 0.01
R7777:Gm4353 UTSW 7 116083763 missense possibly damaging 0.96
R7971:Gm4353 UTSW 7 116083512 missense possibly damaging 0.64
R8236:Gm4353 UTSW 7 116083383 missense probably damaging 1.00
R8419:Gm4353 UTSW 7 116083549 missense probably benign 0.09
R8436:Gm4353 UTSW 7 116083629 missense probably damaging 1.00
Posted On2013-11-18