Incidental Mutation 'IGL02036:Ywhag'
ID184513
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 #IGL02036
Quality Score
Status
Chromosome5
Chromosomal Location135908409-135934616 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 135911494 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 82 (V82A)
Ref Sequence ENSEMBL: ENSMUSP00000143631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055808] [ENSMUST00000198270]
Predicted Effect probably benign
Transcript: ENSMUST00000055808
AA Change: V82A

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000051223
Gene: ENSMUSG00000051391
AA Change: V82A

DomainStartEndE-ValueType
14_3_3 4 247 3.44e-137 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000198270
AA Change: V82A

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000143631
Gene: ENSMUSG00000051391
AA Change: V82A

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik G A 7: 28,137,525 V290M possibly damaging Het
Cep290 T A 10: 100,558,100 C2056* probably null Het
Cyp2c38 T A 19: 39,460,316 D143V probably null Het
Ddx10 T C 9: 53,204,183 K617R probably benign Het
Dgat2l6 T A X: 100,545,593 I336N probably damaging Het
Dopey1 A G 9: 86,531,765 I1906M probably benign Het
Dpep3 T G 8: 105,973,785 T430P probably benign Het
Dph1 T C 11: 75,184,165 probably null Het
Epha7 T C 4: 28,950,509 S775P probably damaging Het
F5 A G 1: 164,183,002 probably benign Het
Hdx T A X: 111,659,867 T342S probably benign Het
Inpp4a T C 1: 37,377,569 probably benign Het
Itgad A G 7: 128,189,821 T515A possibly damaging Het
Kcnc2 T A 10: 112,455,926 S340T possibly damaging Het
Krba1 C T 6: 48,415,642 T830I possibly damaging Het
Lrch1 G A 14: 74,795,293 probably benign Het
Mag C T 7: 30,908,452 V295M probably damaging Het
Mmp16 T A 4: 18,093,371 D375E probably benign Het
Olfr1216 A G 2: 89,013,479 V195A probably benign Het
Olfr314 T C 11: 58,787,097 Y288H probably damaging Het
Olfr90 A G 17: 37,085,667 F166S probably damaging Het
Pcyox1l T C 18: 61,707,536 probably benign Het
Secisbp2l A G 2: 125,758,207 S403P probably benign Het
Sh3tc2 T A 18: 62,014,907 H1229Q probably benign Het
Svep1 A C 4: 58,088,245 W1735G possibly damaging Het
Tbxas1 T A 6: 39,021,157 C220S probably benign Het
Vmn1r173 G T 7: 23,702,896 M185I probably benign Het
Other mutations in Ywhag
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03200:Ywhag APN 5 135911060 nonsense probably null
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 On2014-05-07