Incidental Mutation 'IGL01787:Gm4758'
ID155086
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm4758
Ensembl Gene ENSMUSG00000079595
Gene Namepredicted gene 4758
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL01787
Quality Score
Status
Chromosome16
Chromosomal Location36308045-36312653 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 36311229 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 34 (Y34N)
Ref Sequence ENSEMBL: ENSMUSP00000110501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114851]
Predicted Effect probably damaging
Transcript: ENSMUST00000114851
AA Change: Y34N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110501
Gene: ENSMUSG00000079595
AA Change: Y34N

DomainStartEndE-ValueType
CY 1 96 1.9e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232642
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,753,322 S1772P probably benign Het
Epsti1 T C 14: 77,972,612 probably null Het
Mtrr A T 13: 68,571,147 L325Q probably damaging Het
Neb T C 2: 52,296,355 K902E possibly damaging Het
Nfkbie T C 17: 45,556,263 L108P probably damaging Het
Olfr1263 A T 2: 90,015,311 Y127F probably damaging Het
Olfr136 T A 17: 38,335,579 C141S probably damaging Het
Pcdh15 A G 10: 74,450,283 D712G probably benign Het
Polr3k T C 2: 181,864,458 probably benign Het
Shkbp1 A C 7: 27,342,450 F660V possibly damaging Het
Smchd1 T C 17: 71,391,418 D1121G probably damaging Het
Srgap3 A T 6: 112,723,022 D998E probably benign Het
Stab1 T C 14: 31,139,808 D14G probably damaging Het
Tap1 T C 17: 34,196,604 S641P probably benign Het
Tgm3 C T 2: 130,047,740 S618F possibly damaging Het
Tgm6 T C 2: 130,151,434 probably benign Het
Tmco5 A T 2: 116,887,300 E194D probably damaging Het
Treml4 T A 17: 48,264,704 V45E probably damaging Het
Uggt2 A T 14: 119,081,734 M292K probably damaging Het
Usp5 A T 6: 124,824,226 D179E possibly damaging Het
Ythdf1 A G 2: 180,911,693 L216P probably damaging Het
Zfp948 C T 17: 21,587,071 A175V probably benign Het
Other mutations in Gm4758
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01141:Gm4758 APN 16 36308064 missense probably benign 0.03
IGL02114:Gm4758 APN 16 36311255 nonsense probably null
IGL02547:Gm4758 APN 16 36312526 critical splice acceptor site probably benign
R1800:Gm4758 UTSW 16 36312533 missense probably damaging 0.98
R1858:Gm4758 UTSW 16 36308087 missense probably damaging 1.00
R1958:Gm4758 UTSW 16 36312565 missense possibly damaging 0.78
R4424:Gm4758 UTSW 16 36312589 unclassified probably null 0.52
R4618:Gm4758 UTSW 16 36312590 missense possibly damaging 0.69
R5162:Gm4758 UTSW 16 36312556 missense probably damaging 1.00
R6437:Gm4758 UTSW 16 36312637 missense probably damaging 1.00
Posted On2014-02-04