Incidental Mutation 'R0864:Ywhae'
ID 82261
Institutional Source Beutler Lab
Gene Symbol Ywhae
Ensembl Gene ENSMUSG00000020849
Gene Name tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
Synonyms 14-3-3 epsilon
MMRRC Submission 039038-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0864 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 75623695-75656671 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 75650256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000070993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067664] [ENSMUST00000134745]
AlphaFold P62259
Predicted Effect probably null
Transcript: ENSMUST00000067664
SMART Domains Protein: ENSMUSP00000070993
Gene: ENSMUSG00000020849

DomainStartEndE-ValueType
14_3_3 4 245 2.51e-180 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131398
SMART Domains Protein: ENSMUSP00000123504
Gene: ENSMUSG00000020849

DomainStartEndE-ValueType
14_3_3 29 154 2.77e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134745
SMART Domains Protein: ENSMUSP00000117877
Gene: ENSMUSG00000020849

DomainStartEndE-ValueType
14_3_3 4 129 1.32e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153038
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181056
Meta Mutation Damage Score 0.9596 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.1%
  • 10x: 97.3%
  • 20x: 93.8%
Validation Efficiency 93% (39/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the mouse ortholog. It interacts with CDC25 phosphatases, RAF1 and IRS1 proteins, suggesting its role in diverse biochemical activities related to signal transduction, such as cell division and regulation of insulin sensitivity. It has also been implicated in the pathogenesis of small cell lung cancer. Two transcript variants, one protein-coding and the other non-protein-coding, have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene usually die around birth. The small percentage of survivors are small in size and display central nervous system abnormalities including a thinner cortex and a disorganized pyramidal cell layer in the hippocampus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a A G 2: 48,784,798 (GRCm39) probably benign Het
Alx4 A G 2: 93,473,200 (GRCm39) Y66C probably damaging Het
Apol7e T A 15: 77,601,993 (GRCm39) V197E probably damaging Het
Chac1 C A 2: 119,183,950 (GRCm39) A184E probably damaging Het
Clmn G A 12: 104,756,274 (GRCm39) T192I possibly damaging Het
Csmd1 T A 8: 16,240,040 (GRCm39) Y1124F probably damaging Het
Ctnnbl1 C T 2: 157,641,337 (GRCm39) probably benign Het
D430041D05Rik G A 2: 104,060,773 (GRCm39) P1374S possibly damaging Het
Dyrk4 T C 6: 126,854,296 (GRCm39) E499G possibly damaging Het
Fat1 T A 8: 45,471,074 (GRCm39) I1603N probably damaging Het
Fbn1 A T 2: 125,184,811 (GRCm39) C1660* probably null Het
Gapt G C 13: 110,490,273 (GRCm39) T130R probably damaging Het
Hpn T C 7: 30,808,426 (GRCm39) I41V probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Map4 A G 9: 109,808,037 (GRCm39) Y34C probably damaging Het
Mapk8 C T 14: 33,114,949 (GRCm39) R189H probably damaging Het
Mprip T C 11: 59,649,587 (GRCm39) V1097A probably benign Het
Msh2 A G 17: 87,987,480 (GRCm39) T207A probably benign Het
Muc4 A G 16: 32,570,820 (GRCm39) S627G probably benign Het
Nbeal2 G A 9: 110,457,263 (GRCm39) T2266I probably damaging Het
Pdcd6ip A T 9: 113,503,578 (GRCm39) probably benign Het
Pdk2 A G 11: 94,918,759 (GRCm39) Y339H probably damaging Het
Piwil2 T C 14: 70,632,823 (GRCm39) D583G probably benign Het
Plin4 T A 17: 56,410,966 (GRCm39) M1022L probably benign Het
Pmpca G A 2: 26,283,221 (GRCm39) probably null Het
Rbbp4 G T 4: 129,214,344 (GRCm39) probably benign Het
Rbbp8 G A 18: 11,865,241 (GRCm39) probably benign Het
Rbms3 A T 9: 117,458,860 (GRCm39) probably benign Het
Snx14 A T 9: 88,266,049 (GRCm39) S726T possibly damaging Het
Supt4a T A 11: 87,633,913 (GRCm39) S88T probably benign Het
Tmem245 G T 4: 56,890,837 (GRCm39) H321Q probably damaging Het
Trim43c A T 9: 88,725,087 (GRCm39) H202L probably benign Het
Trip12 A G 1: 84,721,730 (GRCm39) F1334S probably damaging Het
Vmn1r36 T C 6: 66,693,840 (GRCm39) T12A probably null Het
Zc3h4 T A 7: 16,154,104 (GRCm39) S131T probably damaging Het
Zfp280b C T 10: 75,874,139 (GRCm39) T6M probably benign Het
Other mutations in Ywhae
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1766:Ywhae UTSW 11 75,646,491 (GRCm39) missense probably damaging 1.00
R2075:Ywhae UTSW 11 75,655,486 (GRCm39) missense probably benign 0.00
R5645:Ywhae UTSW 11 75,647,750 (GRCm39) missense probably benign
R7390:Ywhae UTSW 11 75,655,487 (GRCm39) nonsense probably null
R7422:Ywhae UTSW 11 75,650,169 (GRCm39) missense probably damaging 0.96
R8732:Ywhae UTSW 11 75,642,769 (GRCm39) missense probably damaging 1.00
R8816:Ywhae UTSW 11 75,623,878 (GRCm39) missense probably damaging 0.99
R9639:Ywhae UTSW 11 75,650,248 (GRCm39) missense probably benign 0.06
X0025:Ywhae UTSW 11 75,646,431 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- GCAACTATGACAGGTGGAGCTATACAG -3'
(R):5'- GGCCTAAATGGCACTCAGACATCATTTC -3'

Sequencing Primer
(F):5'- aaatctgcctgcctctgtc -3'
(R):5'- CACTCAGACATCATTTCCTATAGAAG -3'
Posted On 2013-11-08