Incidental Mutation 'IGL03200:Ywhag'
ID 412951
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 # IGL03200
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,928,989 (GRCm39) probably benign Het
Degs1 A T 1: 182,107,256 (GRCm39) M1K probably null Het
Eif3e A T 15: 43,115,657 (GRCm39) W370R probably damaging Het
H2-M10.6 G A 17: 37,124,908 (GRCm39) G275E probably damaging Het
Itga8 C T 2: 12,196,010 (GRCm39) V647I probably benign Het
Kcnip2 T G 19: 45,782,502 (GRCm39) K190Q probably damaging Het
Mbd1 T G 18: 74,409,502 (GRCm39) S251A probably benign Het
Mcpt9 T A 14: 56,264,390 (GRCm39) H235L probably benign Het
Ndst1 A T 18: 60,832,611 (GRCm39) I573N possibly damaging Het
Ntan1 C T 16: 13,652,591 (GRCm39) P229L probably damaging Het
Rbl2 T C 8: 91,823,395 (GRCm39) I441T probably benign Het
Spmap2l T A 5: 77,208,711 (GRCm39) V413D possibly damaging Het
Sulf1 C T 1: 12,856,841 (GRCm39) R31* probably null Het
Taok1 G A 11: 77,466,478 (GRCm39) Q124* probably null Het
Tmem140 A G 6: 34,849,814 (GRCm39) E110G possibly damaging Het
U2surp G A 9: 95,373,444 (GRCm39) R242* probably null Het
Zfp456 C T 13: 67,514,596 (GRCm39) R370H probably benign Het
Other mutations in Ywhag
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02036:Ywhag APN 5 135,940,348 (GRCm39) missense probably benign 0.08
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
R9013:Ywhag UTSW 5 135,940,217 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02