Incidental Mutation 'IGL01828:Ywhab'
ID278899
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ywhab
Ensembl Gene ENSMUSG00000018326
Gene Nametyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide
Synonyms14-3-3 beta, 1300003C17Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01828
Quality Score
Status
Chromosome2
Chromosomal Location163994960-164018588 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 164011774 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 57 (R57H)
Ref Sequence ENSEMBL: ENSMUSP00000018470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018470] [ENSMUST00000131288]
PDB Structure
Complex of ChREBP and 14-3-3beta [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000018470
AA Change: R57H

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000018470
Gene: ENSMUSG00000018326
AA Change: R57H

DomainStartEndE-ValueType
14_3_3 5 244 7.42e-142 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000131288
AA Change: R57H

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117125
Gene: ENSMUSG00000018326
AA Change: R57H

DomainStartEndE-ValueType
14_3_3 5 159 1.46e-35 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the 14-3-3 family of proteins, members of which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals. The encoded protein has been shown to interact with RAF1 and CDC25 phosphatases, suggesting that it may play a role in linking mitogenic signaling and the cell cycle machinery. Two transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,287,695 I1151V probably benign Het
Abcc4 C T 14: 118,553,279 probably benign Het
Asxl3 T A 18: 22,525,558 probably benign Het
Car4 C A 11: 84,964,745 Q198K probably benign Het
Ces1a T C 8: 93,025,201 H435R probably damaging Het
Chdh T A 14: 30,036,608 F503L probably damaging Het
Dennd4a C T 9: 64,842,561 R145* probably null Het
Dse T A 10: 34,152,776 T773S probably damaging Het
Fbxw11 T A 11: 32,720,505 L123H probably damaging Het
Gigyf2 A G 1: 87,419,098 D550G probably damaging Het
Krcc1 T A 6: 71,284,367 Y128N probably damaging Het
Myh8 T C 11: 67,303,826 M1621T possibly damaging Het
Notch2 T A 3: 98,072,613 C148S probably damaging Het
Plcg2 C A 8: 117,590,233 H616Q probably damaging Het
Plec T C 15: 76,183,755 E1218G probably damaging Het
Plekhm2 T C 4: 141,629,585 E749G probably benign Het
RP24-77E13.10 T C 7: 7,231,323 probably null Het
Slco1a6 C T 6: 142,096,411 V480M probably damaging Het
Vmn1r88 C T 7: 13,177,735 T6I probably damaging Het
Vmn2r14 A G 5: 109,224,577 F16L possibly damaging Het
Other mutations in Ywhab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02524:Ywhab APN 2 164016137 missense probably damaging 1.00
IGL03135:Ywhab APN 2 164015275 missense probably benign 0.06
IGL03255:Ywhab APN 2 164014016 missense probably benign 0.01
R0019:Ywhab UTSW 2 164016170 missense probably damaging 1.00
R0019:Ywhab UTSW 2 164016170 missense probably damaging 1.00
R1992:Ywhab UTSW 2 164011887 missense probably damaging 1.00
R4795:Ywhab UTSW 2 164015345 missense probably damaging 1.00
R7153:Ywhab UTSW 2 164014060 missense probably damaging 0.99
Posted On2015-04-16