Incidental Mutation 'IGL03135:Ywhab'
ID 410495
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 # IGL03135
Quality Score
Status
Chromosome 2
Chromosomal Location 163837082-163860508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 163857195 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 157 (I157V)
Ref Sequence ENSEMBL: ENSMUSP00000117125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018470] [ENSMUST00000131288]
AlphaFold Q9CQV8
Predicted Effect probably benign
Transcript: ENSMUST00000018470
AA Change: I157V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000018470
Gene: ENSMUSG00000018326
AA Change: I157V

DomainStartEndE-ValueType
14_3_3 5 244 7.42e-142 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131288
AA Change: I157V

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000117125
Gene: ENSMUSG00000018326
AA Change: I157V

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apmap A C 2: 150,429,035 (GRCm39) M196R possibly damaging Het
Arhgap27 T A 11: 103,229,891 (GRCm39) probably null Het
Arl8b A C 6: 108,795,506 (GRCm39) N148T probably benign Het
Baz1a A G 12: 54,976,375 (GRCm39) F434L probably damaging Het
Birc2 A G 9: 7,849,722 (GRCm39) probably benign Het
Brwd1 C A 16: 95,822,458 (GRCm39) R1249I probably damaging Het
Cab39l T C 14: 59,757,100 (GRCm39) F161L probably benign Het
Ccr8 A T 9: 119,923,689 (GRCm39) D268V possibly damaging Het
Col25a1 A T 3: 130,323,332 (GRCm39) probably benign Het
Cpn1 A G 19: 43,974,693 (GRCm39) L12P possibly damaging Het
Dnah6 A G 6: 73,121,987 (GRCm39) I1360T probably benign Het
Dnajb8 A G 6: 88,200,013 (GRCm39) E183G probably damaging Het
Dpp8 T A 9: 64,960,322 (GRCm39) probably null Het
Fsd1 C A 17: 56,297,416 (GRCm39) probably null Het
Grina T A 15: 76,132,162 (GRCm39) F28I possibly damaging Het
H2-M3 G A 17: 37,583,324 (GRCm39) D262N possibly damaging Het
Hdgfl3 G A 7: 81,543,587 (GRCm39) T188M probably damaging Het
Kif18b A G 11: 102,805,086 (GRCm39) I353T probably damaging Het
Lrrc41 C A 4: 115,945,728 (GRCm39) R148S probably benign Het
Lrrc8e T A 8: 4,285,776 (GRCm39) L667Q probably damaging Het
Lrrk1 A G 7: 65,912,638 (GRCm39) F1641L probably benign Het
Naaladl1 A T 19: 6,162,386 (GRCm39) T443S probably benign Het
Naga C A 15: 82,214,942 (GRCm39) V339F probably damaging Het
Nedd4l A G 18: 65,338,741 (GRCm39) K702E probably damaging Het
Nwd2 T A 5: 63,963,338 (GRCm39) L974H probably damaging Het
Parp14 A G 16: 35,678,381 (GRCm39) M529T probably damaging Het
Parp8 A G 13: 117,047,478 (GRCm39) V198A probably benign Het
Pcdhb19 A T 18: 37,631,588 (GRCm39) H461L probably benign Het
Ppp6r1 T C 7: 4,645,159 (GRCm39) D236G possibly damaging Het
Psg21 T C 7: 18,388,843 (GRCm39) D83G probably benign Het
Ptpru A G 4: 131,546,111 (GRCm39) C308R probably damaging Het
Ralgds T A 2: 28,439,100 (GRCm39) S696T probably damaging Het
Rttn T A 18: 89,033,274 (GRCm39) L695Q probably damaging Het
Scel A T 14: 103,823,950 (GRCm39) I393F probably benign Het
Serpina3j T A 12: 104,281,166 (GRCm39) I113N probably damaging Het
Slc4a3 C A 1: 75,524,579 (GRCm39) probably benign Het
Slc6a11 A T 6: 114,171,570 (GRCm39) probably null Het
Slc8a3 C T 12: 81,249,023 (GRCm39) V802M probably damaging Het
Smarcal1 T A 1: 72,655,660 (GRCm39) probably null Het
Tmprss11c A G 5: 86,385,509 (GRCm39) V308A probably damaging Het
Trim10 A G 17: 37,185,113 (GRCm39) R279G possibly damaging Het
Trim30a A G 7: 104,060,348 (GRCm39) V476A probably damaging Het
Trio T C 15: 27,832,097 (GRCm39) probably benign Het
Urgcp G A 11: 5,666,091 (GRCm39) T749I possibly damaging Het
Vmn2r60 A G 7: 41,786,018 (GRCm39) I274V probably benign Het
Vps11 A G 9: 44,267,653 (GRCm39) F40L probably benign Het
Zfp638 G A 6: 83,919,857 (GRCm39) R485H probably damaging Het
Zfp944 A G 17: 22,558,737 (GRCm39) I170T probably benign Het
Other mutations in Ywhab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01828:Ywhab APN 2 163,853,694 (GRCm39) missense possibly damaging 0.94
IGL02524:Ywhab APN 2 163,858,057 (GRCm39) missense probably damaging 1.00
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 2016-08-02