Incidental Mutation 'IGL03200:Ywhag'
ID412951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ywhag
Ensembl Gene ENSMUSG00000051391
Gene Nametyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide
Synonyms14-3-3 gamma, D7Bwg1348e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03200
Quality Score
Status
Chromosome5
Chromosomal Location135908409-135934616 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 135911060 bp
ZygosityHeterozygous
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]
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: 118,965,254 probably benign Het
Degs1 A T 1: 182,279,691 M1K probably null Het
Eif3e A T 15: 43,252,261 W370R probably damaging Het
H2-M10.6 G A 17: 36,814,016 G275E probably damaging Het
Itga8 C T 2: 12,191,199 V647I probably benign Het
Kcnip2 T G 19: 45,794,063 K190Q probably damaging Het
Mbd1 T G 18: 74,276,431 S251A probably benign Het
Mcpt9 T A 14: 56,026,933 H235L probably benign Het
Ndst1 A T 18: 60,699,539 I573N possibly damaging Het
Ntan1 C T 16: 13,834,727 P229L probably damaging Het
Rbl2 T C 8: 91,096,767 I441T probably benign Het
Sulf1 C T 1: 12,786,617 R31* probably null Het
Taok1 G A 11: 77,575,652 Q124* probably null Het
Thegl T A 5: 77,060,864 V413D possibly damaging Het
Tmem140 A G 6: 34,872,879 E110G possibly damaging Het
U2surp G A 9: 95,491,391 R242* probably null Het
Zfp456 C T 13: 67,366,477 R370H probably benign Het
Other mutations in Ywhag
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02036:Ywhag APN 5 135911494 missense probably benign 0.08
IGL03206:Ywhag APN 5 135911060 nonsense probably null
R0047:Ywhag UTSW 5 135911299 missense probably damaging 0.97
R0047:Ywhag UTSW 5 135911299 missense probably damaging 0.97
R1834:Ywhag UTSW 5 135911530 missense probably damaging 0.99
R5425:Ywhag UTSW 5 135911265 missense probably benign 0.19
R5974:Ywhag UTSW 5 135911629 missense probably damaging 1.00
R6214:Ywhag UTSW 5 135911074 missense probably damaging 1.00
Posted On2016-08-02