Incidental Mutation 'IGL03206:Ywhag'
ID 413160
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ywhag
Ensembl Gene ENSMUSG00000051391
Gene Name tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide
Synonyms D7Bwg1348e, 14-3-3 gamma
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03206
Quality Score
Status
Chromosome 5
Chromosomal Location 135937263-135963470 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 135939914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 227 (R227*)
Ref Sequence ENSEMBL: ENSMUSP00000143631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055808] [ENSMUST00000198270]
AlphaFold P61982
Predicted Effect probably null
Transcript: ENSMUST00000055808
AA Change: R227*
SMART Domains Protein: ENSMUSP00000051223
Gene: ENSMUSG00000051391
AA Change: R227*

DomainStartEndE-ValueType
14_3_3 4 247 3.44e-137 SMART
Predicted Effect probably null
Transcript: ENSMUST00000198270
AA Change: R227*
SMART Domains Protein: ENSMUSP00000143631
Gene: ENSMUSG00000051391
AA Change: R227*

DomainStartEndE-ValueType
14_3_3 4 247 3.44e-137 SMART
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,530,239 (GRCm39) E939D possibly damaging Het
Aloxe3 C A 11: 69,020,472 (GRCm39) A172D possibly damaging Het
Bscl2 G A 19: 8,820,453 (GRCm39) R158Q probably damaging Het
Cdon A G 9: 35,414,602 (GRCm39) D1159G probably benign Het
Cep164 A G 9: 45,714,023 (GRCm39) V203A probably benign Het
Chml T C 1: 175,515,303 (GRCm39) D206G probably benign Het
E2f6 T C 12: 16,872,090 (GRCm39) probably benign Het
Emilin3 T A 2: 160,752,719 (GRCm39) Y77F probably damaging Het
Fbxw15 A T 9: 109,394,430 (GRCm39) N128K possibly damaging Het
Gjd2 A G 2: 113,842,204 (GRCm39) L91P probably damaging Het
Gm12830 T A 4: 114,702,314 (GRCm39) probably benign Het
Gpr161 T A 1: 165,149,218 (GRCm39) L529Q probably damaging Het
Hoxd10 T A 2: 74,522,776 (GRCm39) Y151* probably null Het
Iars1 A G 13: 49,846,546 (GRCm39) D215G possibly damaging Het
Ift140 T C 17: 25,311,800 (GRCm39) V1241A probably damaging Het
Kdm5b A G 1: 134,555,055 (GRCm39) N1321S probably benign Het
Lrat T A 3: 82,810,656 (GRCm39) I122F probably damaging Het
Myl10 C T 5: 136,726,796 (GRCm39) Q106* probably null Het
Ncapd2 A T 6: 125,148,660 (GRCm39) Y1018N possibly damaging Het
Ndrg1 C T 15: 66,814,936 (GRCm39) W172* probably null Het
Nphs2 T C 1: 156,153,701 (GRCm39) M264T probably damaging Het
Nrxn3 A T 12: 89,227,278 (GRCm39) R677S possibly damaging Het
Nudt12 T C 17: 59,314,667 (GRCm39) T306A probably benign Het
Numb A G 12: 83,872,070 (GRCm39) probably benign Het
Or10h28 T A 17: 33,487,725 (GRCm39) I9K possibly damaging Het
Or2y1 A T 11: 49,385,536 (GRCm39) M59L probably benign Het
Or5p58 C T 7: 107,694,261 (GRCm39) C172Y probably damaging Het
Pbld2 T A 10: 62,883,261 (GRCm39) D94E probably benign Het
Pkd1l3 C A 8: 110,350,345 (GRCm39) Q397K probably benign Het
Ppp4r3a A T 12: 101,024,878 (GRCm39) L207H probably damaging Het
Ranbp2 T A 10: 58,301,369 (GRCm39) I674N probably damaging Het
Retnlg G T 16: 48,694,655 (GRCm39) C101F probably damaging Het
Rif1 T A 2: 51,993,634 (GRCm39) I849N probably damaging Het
Serpinb9d T C 13: 33,382,014 (GRCm39) I161T possibly damaging Het
Slc17a6 T C 7: 51,315,771 (GRCm39) probably benign Het
Smg8 A C 11: 86,976,814 (GRCm39) probably null Het
Spata31d1c C A 13: 65,183,407 (GRCm39) N316K probably benign Het
Tlr1 A G 5: 65,082,400 (GRCm39) S726P probably damaging Het
Trim69 A C 2: 122,003,636 (GRCm39) D195A probably benign Het
Ttc16 T G 2: 32,661,897 (GRCm39) probably null Het
Usp53 T A 3: 122,746,832 (GRCm39) M405L probably benign Het
Zfp335 G T 2: 164,734,601 (GRCm39) probably benign Het
Zfp607a T C 7: 27,577,248 (GRCm39) I106T possibly damaging Het
Zfp959 T C 17: 56,204,613 (GRCm39) S214P possibly damaging Het
Zfyve9 T C 4: 108,546,406 (GRCm39) M868V possibly 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
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
R9013:Ywhag UTSW 5 135,940,217 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02