Incidental Mutation 'IGL03255:Ywhab'
ID414615
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 #IGL03255
Quality Score
Status
Chromosome2
Chromosomal Location163994960-164018588 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 164014016 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 104 (D104G)
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 probably benign
Transcript: ENSMUST00000018470
AA Change: D104G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000018470
Gene: ENSMUSG00000018326
AA Change: D104G

DomainStartEndE-ValueType
14_3_3 5 244 7.42e-142 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131288
AA Change: D104G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000117125
Gene: ENSMUSG00000018326
AA Change: D104G

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik A G 1: 158,969,351 noncoding transcript Het
Alpk3 A G 7: 81,092,562 D709G probably benign Het
AY761184 T C 8: 21,703,518 T29A possibly damaging Het
Capn3 G T 2: 120,489,708 R309L probably damaging Het
Card11 T C 5: 140,898,331 I398V possibly damaging Het
Cps1 T A 1: 67,145,801 Y162* probably null Het
Defa26 A T 8: 21,618,241 D20V probably damaging Het
Dnah8 T G 17: 30,741,381 L2244R probably damaging Het
Fhad1 T A 4: 141,972,880 N353I possibly damaging Het
Flt1 T A 5: 147,588,521 probably benign Het
Glyr1 G A 16: 5,048,757 probably null Het
Gm10220 A G 5: 26,116,901 S258P possibly damaging Het
Lama3 A T 18: 12,539,703 D845V probably damaging Het
Myh2 T A 11: 67,193,225 L1558Q probably damaging Het
Nelfb G T 2: 25,203,195 H482N probably benign Het
Olfr290 T C 7: 84,916,517 L246P possibly damaging Het
Olfr482 A G 7: 108,094,817 V251A probably damaging Het
Ppfia2 A G 10: 106,896,507 T972A possibly damaging Het
Slc5a4a G A 10: 76,150,512 V85M probably damaging Het
Slc6a12 T G 6: 121,354,287 C166G probably damaging Het
Tm7sf3 T C 6: 146,606,120 probably benign Het
Tmem94 G T 11: 115,792,068 probably benign Het
Tmod2 T C 9: 75,577,258 probably benign Het
Tmprss11c T A 5: 86,271,482 I73F probably damaging Het
Vmn1r10 A G 6: 57,113,926 M168V probably benign Het
Vmn2r77 T A 7: 86,811,923 M819K probably benign Het
Vmo1 C T 11: 70,514,410 probably null Het
Other mutations in Ywhab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01828:Ywhab APN 2 164011774 missense possibly damaging 0.94
IGL02524:Ywhab APN 2 164016137 missense probably damaging 1.00
IGL03135:Ywhab APN 2 164015275 missense probably benign 0.06
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 On2016-08-02