Incidental Mutation 'R9013:Ywhag'
ID 685750
Institutional Source Beutler Lab
Gene Symbol Ywhag
Ensembl Gene ENSMUSG00000051391
Gene Name tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide
Synonyms D7Bwg1348e, 14-3-3 gamma
MMRRC Submission 068843-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9013 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 135937263-135963470 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135940217 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 126 (M126V)
Ref Sequence ENSEMBL: ENSMUSP00000051223 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055808] [ENSMUST00000198270]
AlphaFold P61982
Predicted Effect probably damaging
Transcript: ENSMUST00000055808
AA Change: M126V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051223
Gene: ENSMUSG00000051391
AA Change: M126V

DomainStartEndE-ValueType
14_3_3 4 247 3.44e-137 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000198270
AA Change: M126V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143631
Gene: ENSMUSG00000051391
AA Change: M126V

DomainStartEndE-ValueType
14_3_3 4 247 3.44e-137 SMART
Meta Mutation Damage Score 0.8672 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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 rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants appear normal and exhibit unchanged survival rates after inoculation with pathological prion protein. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik G T 14: 70,394,176 (GRCm39) L200I probably damaging Het
Afap1 G A 5: 36,133,932 (GRCm39) D456N possibly damaging Het
Afm A T 5: 90,671,594 (GRCm39) D92V probably damaging Het
Ahi1 T C 10: 20,883,658 (GRCm39) I841T probably benign Het
Asb1 T C 1: 91,480,163 (GRCm39) probably null Het
Astn1 A T 1: 158,348,070 (GRCm39) I507F probably damaging Het
Astn2 A G 4: 65,910,584 (GRCm39) M468T probably benign Het
C030006K11Rik T C 15: 76,608,004 (GRCm39) S5G probably benign Het
C9 A T 15: 6,516,193 (GRCm39) D332V probably damaging Het
Cacna1c A T 6: 118,719,266 (GRCm39) S423T probably damaging Het
Cbx8 T C 11: 118,929,649 (GRCm39) I315V possibly damaging Het
Ccdc50 T A 16: 27,228,106 (GRCm39) I91N probably damaging Het
Col4a1 T A 8: 11,272,270 (GRCm39) I707L probably benign Het
Cyc1 T C 15: 76,229,019 (GRCm39) V154A possibly damaging Het
Cyp4f40 A T 17: 32,890,173 (GRCm39) H281L probably benign Het
D130052B06Rik T G 11: 33,573,491 (GRCm39) C74W unknown Het
Dap G A 15: 31,273,344 (GRCm39) G66D probably damaging Het
Dclk3 A T 9: 111,297,566 (GRCm39) H370L probably benign Het
Dgka C A 10: 128,566,071 (GRCm39) E360* probably null Het
Dst A G 1: 34,217,165 (GRCm39) I1202V possibly damaging Het
Fzd10 C G 5: 128,679,369 (GRCm39) P363R probably damaging Het
Gpx2 A G 12: 76,842,118 (GRCm39) L11P probably damaging Het
Greb1 A G 12: 16,789,970 (GRCm39) L26S probably damaging Het
Gtpbp2 A G 17: 46,475,740 (GRCm39) K163R probably benign Het
Hsd3b1 A T 3: 98,759,977 (GRCm39) L338Q probably damaging Het
Il15ra A G 2: 11,732,576 (GRCm39) S67G probably benign Het
Kcnc2 C T 10: 112,107,723 (GRCm39) A38V probably damaging Het
Kif19b A T 5: 140,449,368 (GRCm39) Y180F probably damaging Het
Klk1b16 A G 7: 43,790,332 (GRCm39) D169G probably benign Het
Kmt2a T C 9: 44,761,208 (GRCm39) K214E probably damaging Het
Lcor T A 19: 41,573,189 (GRCm39) V648D probably damaging Het
Lrriq1 C T 10: 103,050,931 (GRCm39) G607D probably damaging Het
Lysmd3 T A 13: 81,817,580 (GRCm39) S186T probably damaging Het
Meis1 G T 11: 18,966,354 (GRCm39) D6E probably benign Het
Mfsd4b2 T G 10: 39,798,062 (GRCm39) T98P probably benign Het
Muc16 T A 9: 18,424,069 (GRCm39) E8193V possibly damaging Het
Nr1i3 A G 1: 171,042,026 (GRCm39) T37A probably damaging Het
Nr5a2 A T 1: 136,872,745 (GRCm39) D112E probably damaging Het
Oas1c A G 5: 120,943,497 (GRCm39) I214T probably damaging Het
Omp A G 7: 97,794,552 (GRCm39) M25T probably benign Het
Or12d17 G A 17: 37,777,441 (GRCm39) V115M probably benign Het
Or12j4 A T 7: 140,046,179 (GRCm39) R22W probably benign Het
Or13c9 C A 4: 52,935,900 (GRCm39) A128S probably benign Het
Or5p58 A G 7: 107,694,471 (GRCm39) I102T probably benign Het
Or6c210 T C 10: 129,495,702 (GRCm39) F9S probably damaging Het
Or7g12 A T 9: 18,899,874 (GRCm39) I197F possibly damaging Het
Paf1 A G 7: 28,098,133 (GRCm39) E381G unknown Het
Pcdhga8 A G 18: 37,858,997 (GRCm39) T18A probably benign Het
Pclo T C 5: 14,727,627 (GRCm39) S2162P unknown Het
Psg25 T C 7: 18,258,690 (GRCm39) I329V probably benign Het
Ptov1 A G 7: 44,514,985 (GRCm39) S209P possibly damaging Het
Ralgapb A G 2: 158,279,060 (GRCm39) K397E probably damaging Het
Ryr2 T A 13: 11,618,618 (GRCm39) T3866S probably damaging Het
Sdccag8 G A 1: 176,652,371 (GRCm39) V41I probably benign Het
Sdf2l1 T A 16: 16,948,630 (GRCm39) D136V possibly damaging Het
Slc26a7 A T 4: 14,506,514 (GRCm39) S612T probably damaging Het
Snf8 T C 11: 95,930,126 (GRCm39) F43L probably benign Het
Snta1 A T 2: 154,245,809 (GRCm39) M104K probably damaging Het
Sox2 T A 3: 34,704,746 (GRCm39) M61K probably damaging Het
Spata31e3 T C 13: 50,401,588 (GRCm39) H246R possibly damaging Het
Spats2 T A 15: 99,097,128 (GRCm39) D293E probably damaging Het
Spta1 A G 1: 174,050,174 (GRCm39) D1738G probably damaging Het
Sqstm1 A T 11: 50,098,684 (GRCm39) Y89N probably damaging Het
Stat4 T A 1: 52,050,957 (GRCm39) N5K probably benign Het
Syne4 A G 7: 30,017,418 (GRCm39) H294R probably damaging Het
Tbc1d7 A C 13: 43,322,310 (GRCm39) F45V probably damaging Het
Tekt3 T A 11: 62,974,684 (GRCm39) N334K probably damaging Het
Tgfbr3l A G 8: 4,300,620 (GRCm39) H266R possibly damaging Het
Trav7-6 A G 14: 53,954,604 (GRCm39) K65E probably benign Het
Trip11 A G 12: 101,851,377 (GRCm39) S896P probably damaging Het
Tubb6 T C 18: 67,526,046 (GRCm39) V66A possibly damaging Het
Tyk2 A G 9: 21,016,403 (GRCm39) L1189P probably damaging Het
Usp34 T G 11: 23,320,302 (GRCm39) V911G Het
Wdr53 C T 16: 32,075,413 (GRCm39) A206V probably damaging Het
Xrn1 A G 9: 95,920,981 (GRCm39) E1364G probably benign Het
Zfp383 C T 7: 29,614,717 (GRCm39) P324L probably damaging Het
Other mutations in Ywhag
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02036:Ywhag APN 5 135,940,348 (GRCm39) missense probably benign 0.08
IGL03200:Ywhag APN 5 135,939,914 (GRCm39) nonsense probably null
IGL03206:Ywhag APN 5 135,939,914 (GRCm39) nonsense probably null
R0047:Ywhag UTSW 5 135,940,153 (GRCm39) missense probably damaging 0.97
R0047:Ywhag UTSW 5 135,940,153 (GRCm39) missense probably damaging 0.97
R1834:Ywhag UTSW 5 135,940,384 (GRCm39) missense probably damaging 0.99
R5425:Ywhag UTSW 5 135,940,119 (GRCm39) missense probably benign 0.19
R5974:Ywhag UTSW 5 135,940,483 (GRCm39) missense probably damaging 1.00
R6214:Ywhag UTSW 5 135,939,928 (GRCm39) missense probably damaging 1.00
R7759:Ywhag UTSW 5 135,940,043 (GRCm39) missense probably damaging 0.99
R7827:Ywhag UTSW 5 135,940,394 (GRCm39) missense probably damaging 1.00
R8719:Ywhag UTSW 5 135,939,998 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAAACCGAGTAGTTGAGCGC -3'
(R):5'- TGGCCTACAAGAACGTGGTG -3'

Sequencing Primer
(F):5'- AGTAGTTGAGCGCCAGGC -3'
(R):5'- TGGAGGGTCATCAGCAGCATC -3'
Posted On 2021-10-11