Incidental Mutation 'IGL01828:Ywhab'
ID 278899
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ywhab
Ensembl Gene ENSMUSG00000018326
Gene Name tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide
Synonyms 14-3-3 beta, 14-3-3b, 1300003C17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01828
Quality Score
Status
Chromosome 2
Chromosomal Location 163837082-163860508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 163853694 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CQV8
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: 110,178,521 (GRCm39) I1151V probably benign Het
Abcc4 C T 14: 118,790,691 (GRCm39) probably benign Het
Asxl3 T A 18: 22,658,615 (GRCm39) probably benign Het
Car4 C A 11: 84,855,571 (GRCm39) Q198K probably benign Het
Ces1a T C 8: 93,751,829 (GRCm39) H435R probably damaging Het
Chdh T A 14: 29,758,565 (GRCm39) F503L probably damaging Het
Dennd4a C T 9: 64,749,843 (GRCm39) R145* probably null Het
Dse T A 10: 34,028,772 (GRCm39) T773S probably damaging Het
Fbxw11 T A 11: 32,670,505 (GRCm39) L123H probably damaging Het
Gigyf2 A G 1: 87,346,820 (GRCm39) D550G probably damaging Het
Gm45844 T C 7: 7,234,322 (GRCm39) probably null Het
Krcc1 T A 6: 71,261,351 (GRCm39) Y128N probably damaging Het
Myh8 T C 11: 67,194,652 (GRCm39) M1621T possibly damaging Het
Notch2 T A 3: 97,979,929 (GRCm39) C148S probably damaging Het
Plcg2 C A 8: 118,316,972 (GRCm39) H616Q probably damaging Het
Plec T C 15: 76,067,955 (GRCm39) E1218G probably damaging Het
Plekhm2 T C 4: 141,356,896 (GRCm39) E749G probably benign Het
Slco1a6 C T 6: 142,042,137 (GRCm39) V480M probably damaging Het
Vmn1r88 C T 7: 12,911,662 (GRCm39) T6I probably damaging Het
Vmn2r14 A G 5: 109,372,443 (GRCm39) F16L possibly damaging Het
Other mutations in Ywhab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02524:Ywhab APN 2 163,858,057 (GRCm39) missense probably damaging 1.00
IGL03135:Ywhab APN 2 163,857,195 (GRCm39) missense probably benign 0.06
IGL03255:Ywhab APN 2 163,855,936 (GRCm39) missense probably benign 0.01
R0019:Ywhab UTSW 2 163,858,090 (GRCm39) missense probably damaging 1.00
R0019:Ywhab UTSW 2 163,858,090 (GRCm39) missense probably damaging 1.00
R1992:Ywhab UTSW 2 163,853,807 (GRCm39) missense probably damaging 1.00
R4795:Ywhab UTSW 2 163,857,265 (GRCm39) missense probably damaging 1.00
R7153:Ywhab UTSW 2 163,855,980 (GRCm39) missense probably damaging 0.99
R8229:Ywhab UTSW 2 163,856,015 (GRCm39) nonsense probably null
Posted On 2015-04-16