Incidental Mutation 'R8816:Ywhae'
ID 672758
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 068726-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8816 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 75623695-75656671 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75623878 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 9 (Y9H)
Ref Sequence ENSEMBL: ENSMUSP00000070993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067664] [ENSMUST00000134745]
AlphaFold P62259
Predicted Effect probably damaging
Transcript: ENSMUST00000067664
AA Change: Y9H

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070993
Gene: ENSMUSG00000020849
AA Change: Y9H

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 damaging
Transcript: ENSMUST00000134745
AA Change: Y9H

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117877
Gene: ENSMUSG00000020849
AA Change: Y9H

DomainStartEndE-ValueType
14_3_3 4 129 1.32e-19 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,127,513 (GRCm39) H348L probably benign Het
Alpk1 A T 3: 127,478,024 (GRCm39) Y74* probably null Het
Ass1 T C 2: 31,383,189 (GRCm39) probably benign Het
Atp8b4 C T 2: 126,214,084 (GRCm39) probably benign Het
Atrn C A 2: 130,748,798 (GRCm39) N106K probably damaging Het
Atrn T C 2: 130,846,494 (GRCm39) V1256A probably damaging Het
Bicdl1 T A 5: 115,862,804 (GRCm39) Q150H probably damaging Het
Bltp3b T C 10: 89,626,597 (GRCm39) probably benign Het
Cdhr4 T C 9: 107,872,791 (GRCm39) V280A possibly damaging Het
Cfap54 C T 10: 92,714,454 (GRCm39) V2642I unknown Het
Chd2 T C 7: 73,140,245 (GRCm39) H661R probably damaging Het
Cntnap2 A G 6: 46,833,076 (GRCm39) D763G possibly damaging Het
Csnk1g2 T C 10: 80,474,093 (GRCm39) C160R probably damaging Het
Cyb5r4 T C 9: 86,904,286 (GRCm39) S19P probably benign Het
Cyp4a30b G A 4: 115,309,834 (GRCm39) V12M probably benign Het
Dpp6 C T 5: 27,930,711 (GRCm39) P848S probably benign Het
Dzip1 T C 14: 119,159,785 (GRCm39) Y141C probably benign Het
Eif2b3 C A 4: 116,928,052 (GRCm39) Q424K probably benign Het
Fbxw14 G A 9: 109,105,305 (GRCm39) R287* probably null Het
Fcgbp T G 7: 27,784,412 (GRCm39) S157R probably benign Het
Fmnl2 T G 2: 53,004,214 (GRCm39) V642G unknown Het
Gpr119 C T X: 47,762,276 (GRCm39) R287Q possibly damaging Het
Grm7 C T 6: 111,230,966 (GRCm39) T463I possibly damaging Het
Haus4 G A 14: 54,779,710 (GRCm39) R305C probably benign Het
Htr1f A G 16: 64,746,537 (GRCm39) S252P probably benign Het
Ino80b T C 6: 83,098,861 (GRCm39) Q359R probably damaging Het
Itgad C A 7: 127,797,542 (GRCm39) Y924* probably null Het
Itpr2 A G 6: 146,142,710 (GRCm39) Y1703H probably damaging Het
Kif5c T A 2: 49,584,799 (GRCm39) V174E probably damaging Het
Kifc2 A G 15: 76,548,371 (GRCm39) E405G probably damaging Het
Klk1b3 T C 7: 43,851,668 (GRCm39) V242A possibly damaging Het
Kndc1 T C 7: 139,517,909 (GRCm39) F1615S probably damaging Het
Lmtk2 T A 5: 144,112,793 (GRCm39) L1171* probably null Het
Myh10 A G 11: 68,693,778 (GRCm39) E1530G probably damaging Het
Nav3 T A 10: 109,699,721 (GRCm39) S258C possibly damaging Het
Nudcd3 C T 11: 6,100,587 (GRCm39) G186S probably damaging Het
Or9s15 T A 1: 92,524,768 (GRCm39) C176S probably damaging Het
Otog C T 7: 45,950,905 (GRCm39) S374F possibly damaging Het
P2ry2 T A 7: 100,647,763 (GRCm39) I181F possibly damaging Het
Pde11a T C 2: 76,121,577 (GRCm39) I335V probably benign Het
Phyhip A C 14: 70,704,375 (GRCm39) D198A probably damaging Het
Pik3r5 A T 11: 68,385,060 (GRCm39) Y655F probably damaging Het
Rab6a T C 7: 100,279,145 (GRCm39) I95T possibly damaging Het
Sgsm1 T C 5: 113,435,097 (GRCm39) E99G probably damaging Het
Skint10 A T 4: 112,603,892 (GRCm39) F98L probably benign Het
Slc35c2 A G 2: 165,119,378 (GRCm39) S321P probably benign Het
Smyd1 T A 6: 71,192,868 (GRCm39) E447V probably damaging Het
Smyd4 T C 11: 75,281,232 (GRCm39) V235A probably benign Het
Sod2 A G 17: 13,227,253 (GRCm39) Y69C probably benign Het
Spns1 G A 7: 125,971,593 (GRCm39) S319F possibly damaging Het
Tfap2b A G 1: 19,284,337 (GRCm39) S82G probably benign Het
Tln2 C A 9: 67,128,693 (GRCm39) E1465D possibly damaging Het
Tln2 A G 9: 67,128,799 (GRCm39) I1430T probably damaging Het
Trio G T 15: 27,741,357 (GRCm39) N2680K probably damaging Het
Trmt10c A T 16: 55,854,522 (GRCm39) V371D probably damaging Het
Trpm3 T C 19: 22,965,580 (GRCm39) S1692P probably damaging Het
Usb1 G T 8: 96,071,984 (GRCm39) C228F probably benign Het
Veph1 G T 3: 66,065,646 (GRCm39) H474N probably benign Het
Wls A G 3: 159,639,928 (GRCm39) T520A possibly damaging Het
Zranb3 C T 1: 127,964,347 (GRCm39) V127M possibly damaging Het
Other mutations in Ywhae
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0864:Ywhae UTSW 11 75,650,256 (GRCm39) critical splice donor site probably null
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
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'- ATAGAGCTGAGCAGTTGTCC -3'
(R):5'- CCGCCATATTTCCCCGAAAG -3'

Sequencing Primer
(F):5'- CTGAGCAGTTGTCCGCGTG -3'
(R):5'- TAGCGCTACAGCTCCTCGATG -3'
Posted On 2021-04-30