Incidental Mutation 'R5645:Ywhae'
ID 441085
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 043293-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5645 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 75623695-75656671 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75647750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 160 (M160T)
Ref Sequence ENSEMBL: ENSMUSP00000070993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067664] [ENSMUST00000134745]
AlphaFold P62259
Predicted Effect probably benign
Transcript: ENSMUST00000067664
AA Change: M160T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000070993
Gene: ENSMUSG00000020849
AA Change: M160T

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A G 9: 108,274,403 (GRCm39) I169V probably damaging Het
4930503B20Rik C T 3: 146,356,264 (GRCm39) E215K probably damaging Het
Abca6 T C 11: 110,141,234 (GRCm39) E29G probably damaging Het
Acsm1 A G 7: 119,239,920 (GRCm39) H288R probably damaging Het
Adamts12 A G 15: 11,277,506 (GRCm39) T707A possibly damaging Het
Adcy2 C A 13: 68,877,321 (GRCm39) probably null Het
Agbl4 A T 4: 111,514,527 (GRCm39) I513F possibly damaging Het
Ak5 A T 3: 152,361,670 (GRCm39) M84K possibly damaging Het
Akap1 T C 11: 88,736,453 (GRCm39) T103A probably benign Het
Akap9 A G 5: 4,100,590 (GRCm39) T2751A probably benign Het
Amer3 A T 1: 34,627,462 (GRCm39) H567L possibly damaging Het
Ano6 A G 15: 95,818,232 (GRCm39) Y325C probably benign Het
Apba2 A G 7: 64,345,554 (GRCm39) E248G possibly damaging Het
Asap2 T A 12: 21,315,983 (GRCm39) V967E probably damaging Het
Atosa T A 9: 74,932,961 (GRCm39) V976E probably damaging Het
Boc A G 16: 44,320,024 (GRCm39) V320A probably damaging Het
Car13 T A 3: 14,710,180 (GRCm39) Y41N possibly damaging Het
Ccdc162 T C 10: 41,428,352 (GRCm39) T1976A probably benign Het
Cep295 C A 9: 15,246,404 (GRCm39) S684I possibly damaging Het
Cep295 A T 9: 15,244,090 (GRCm39) H1455Q probably damaging Het
Cr2 G T 1: 194,836,581 (GRCm39) H861N probably damaging Het
Cul5 T C 9: 53,534,243 (GRCm39) I630V probably benign Het
Cyp2c37 G A 19: 39,982,596 (GRCm39) V145I probably benign Het
Dnmt1 G A 9: 20,833,443 (GRCm39) T500M probably damaging Het
Elp1 T C 4: 56,776,920 (GRCm39) T626A possibly damaging Het
Fam161a T A 11: 22,965,725 (GRCm39) I6N probably damaging Het
Fry T C 5: 150,304,332 (GRCm39) V574A probably damaging Het
Glb1l3 G T 9: 26,736,122 (GRCm39) L553I probably benign Het
Gm1123 T C 9: 98,896,244 (GRCm39) D212G probably benign Het
Grin2a T A 16: 9,810,090 (GRCm39) D103V probably damaging Het
Heg1 A G 16: 33,527,333 (GRCm39) I98V probably benign Het
Hmcn2 C A 2: 31,310,824 (GRCm39) T3356N possibly damaging Het
Hpf1 T G 8: 61,349,834 (GRCm39) I154S possibly damaging Het
Ifnar2 A G 16: 91,201,115 (GRCm39) D452G possibly damaging Het
Iqcc A T 4: 129,510,320 (GRCm39) H398Q possibly damaging Het
Iqgap3 T C 3: 88,025,006 (GRCm39) I669T probably damaging Het
Itgae A G 11: 73,020,074 (GRCm39) T859A probably damaging Het
Kansl1l T C 1: 66,840,503 (GRCm39) M266V probably benign Het
Kbtbd3 A G 9: 4,331,426 (GRCm39) D600G possibly damaging Het
Klf13 G A 7: 63,541,348 (GRCm39) probably benign Het
Kmt2d A G 15: 98,742,278 (GRCm39) probably benign Het
Lama1 A G 17: 68,109,943 (GRCm39) D2188G probably damaging Het
Leng8 A G 7: 4,148,273 (GRCm39) T682A probably damaging Het
Mab21l4 T C 1: 93,080,668 (GRCm39) T413A probably damaging Het
Mslnl G T 17: 25,956,816 (GRCm39) G34V possibly damaging Het
Mycbp2 A T 14: 103,426,044 (GRCm39) S2360R probably damaging Het
Mycbp2 C A 14: 103,426,051 (GRCm39) probably null Het
Nkx2-2 T C 2: 147,026,319 (GRCm39) T140A probably damaging Het
Or11h6 T C 14: 50,880,524 (GRCm39) V262A probably benign Het
Or4c125 A T 2: 89,170,049 (GRCm39) V199E possibly damaging Het
Oser1 C T 2: 163,248,965 (GRCm39) R79H probably damaging Het
Pfas A G 11: 68,881,958 (GRCm39) V909A probably damaging Het
Pkhd1l1 A G 15: 44,396,388 (GRCm39) E1970G probably benign Het
Prph2 G T 17: 47,221,593 (GRCm39) probably benign Het
Rusc2 G T 4: 43,425,758 (GRCm39) A1288S probably benign Het
Scart2 G A 7: 139,828,853 (GRCm39) V171I possibly damaging Het
Sdha A G 13: 74,471,958 (GRCm39) probably null Het
Sec16a T G 2: 26,329,907 (GRCm39) T703P probably benign Het
Senp7 T A 16: 55,993,571 (GRCm39) N724K possibly damaging Het
Skint1 A G 4: 111,882,699 (GRCm39) I248V probably benign Het
Slc9a5 T C 8: 106,083,645 (GRCm39) V395A probably benign Het
Slco1a4 T C 6: 141,780,385 (GRCm39) N135S possibly damaging Het
Sncaip A G 18: 53,028,028 (GRCm39) I412M probably damaging Het
Tacc2 A T 7: 130,225,781 (GRCm39) D841V possibly damaging Het
Tekt1 A T 11: 72,242,663 (GRCm39) H281Q probably benign Het
Tex46 G T 4: 136,340,228 (GRCm39) M104I probably benign Het
Tjp3 T C 10: 81,114,454 (GRCm39) probably null Het
Treh A G 9: 44,593,975 (GRCm39) Y154C probably damaging Het
Trim80 T A 11: 115,337,611 (GRCm39) L428Q probably damaging Het
Trpm6 A G 19: 18,830,968 (GRCm39) K1278E probably damaging Het
Tut4 G A 4: 108,414,570 (GRCm39) R49H probably damaging Het
Usp34 T C 11: 23,325,024 (GRCm39) M990T possibly damaging Het
Vps9d1 A G 8: 123,974,487 (GRCm39) S267P probably benign 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
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'- GAGAAAATTTCCATGCTGTAAGGAC -3'
(R):5'- TCTAGTACCAAGACCCTGCC -3'

Sequencing Primer
(F):5'- CCATGCTGTAAGGACTATTTTCTAAC -3'
(R):5'- GTTAAGAGAATCCTGTGACAACC -3'
Posted On 2016-11-08