Incidental Mutation 'R0019:Ywhab'
ID 201345
Institutional Source Beutler Lab
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
MMRRC Submission 038314-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0019 (G1)
Quality Score 52
Status Validated
Chromosome 2
Chromosomal Location 163837082-163860508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 163858090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 219 (I219N)
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 probably damaging
Transcript: ENSMUST00000018470
AA Change: I219N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018470
Gene: ENSMUSG00000018326
AA Change: I219N

DomainStartEndE-ValueType
14_3_3 5 244 7.42e-142 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131288
SMART Domains Protein: ENSMUSP00000117125
Gene: ENSMUSG00000018326

DomainStartEndE-ValueType
14_3_3 5 159 1.46e-35 SMART
Meta Mutation Damage Score 0.9736 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.0%
Validation Efficiency 98% (43/44)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,974,287 (GRCm39) probably null Het
Ankrd13a T A 5: 114,924,142 (GRCm39) probably benign Het
D130043K22Rik T A 13: 25,064,795 (GRCm39) V737D probably damaging Het
Dhx37 C A 5: 125,507,098 (GRCm39) G133C probably benign Het
Espl1 A C 15: 102,214,754 (GRCm39) Q765P probably null Het
Fasn A T 11: 120,698,824 (GRCm39) probably benign Het
Fshb T C 2: 106,887,690 (GRCm39) S110G probably benign Het
Gsap T C 5: 21,475,620 (GRCm39) probably benign Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Herc3 T C 6: 58,862,050 (GRCm39) probably benign Het
Il1r2 C T 1: 40,164,210 (GRCm39) T359M probably damaging Het
Lrig1 T A 6: 94,584,330 (GRCm39) R905* probably null Het
Myh7 T A 14: 55,221,191 (GRCm39) N911Y possibly damaging Het
Nfatc1 C A 18: 80,678,719 (GRCm39) V890L probably benign Het
Pcolce2 A G 9: 95,577,017 (GRCm39) probably null Het
Pdcl A T 2: 37,241,932 (GRCm39) L273M probably damaging Het
Pycr3 A G 15: 75,791,155 (GRCm39) probably benign Het
Rlf A G 4: 121,003,769 (GRCm39) V1737A possibly damaging Het
Sstr1 T C 12: 58,259,935 (GRCm39) L186S probably damaging Het
Trim69 A T 2: 122,004,958 (GRCm39) probably null Het
Trim80 T G 11: 115,338,768 (GRCm39) Y533D probably damaging Het
Unc13b T C 4: 43,096,990 (GRCm39) I121T possibly damaging Het
Vinac1 G T 2: 128,880,946 (GRCm39) H327N probably benign Het
Zfp560 G A 9: 20,259,656 (GRCm39) S402L probably benign Het
Zfp943 C T 17: 22,211,070 (GRCm39) 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
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
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
Predicted Primers PCR Primer
(F):5'- AAGTGGATTCTACACCGTGAGCCC -3'
(R):5'- TGACTGACAAGGCATAAAGTCCAGC -3'

Sequencing Primer
(F):5'- gtgtgtgtgtgtgtgAGATATG -3'
(R):5'- GCATAAAGTCCAGCAGTAAGATAC -3'
Posted On 2014-06-02