Incidental Mutation 'R1705:Ywhaz'
ID 190036
Institutional Source Beutler Lab
Gene Symbol Ywhaz
Ensembl Gene ENSMUSG00000022285
Gene Name tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide
Synonyms 1110013I11Rik, 14-3-3 zeta
MMRRC Submission 039738-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.750) question?
Stock # R1705 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 36771014-36797173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 36790959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 88 (T88K)
Ref Sequence ENSEMBL: ENSMUSP00000115928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022894] [ENSMUST00000110359] [ENSMUST00000110361] [ENSMUST00000110362] [ENSMUST00000126184] [ENSMUST00000151635] [ENSMUST00000226851]
AlphaFold P63101
Predicted Effect probably benign
Transcript: ENSMUST00000022894
AA Change: T88K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000022894
Gene: ENSMUSG00000022285
AA Change: T88K

DomainStartEndE-ValueType
14_3_3 3 242 1.25e-148 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110359
Predicted Effect probably benign
Transcript: ENSMUST00000110361
AA Change: T88K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105990
Gene: ENSMUSG00000022285
AA Change: T88K

DomainStartEndE-ValueType
14_3_3 3 242 1.25e-148 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110362
AA Change: T88K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105991
Gene: ENSMUSG00000022285
AA Change: T88K

DomainStartEndE-ValueType
14_3_3 3 242 1.25e-148 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000126184
AA Change: T88K

PolyPhen 2 Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115928
Gene: ENSMUSG00000022285
AA Change: T88K

DomainStartEndE-ValueType
14_3_3 3 88 2.26e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154879
Predicted Effect probably benign
Transcript: ENSMUST00000226851
AA Change: T88K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227067
Meta Mutation Damage Score 0.0690 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 90% (43/48)
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 99% identical to the mouse, rat and sheep orthologs. The encoded protein interacts with IRS1 protein, suggesting a role in regulating insulin sensitivity. Several transcript variants that differ in the 5' UTR but that encode the same protein have been identified for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit growth retardation after P14, some postnatal lethality by P21. Mice homozygous for one gene trap allele also exhibit neurodevelopmental and neuropsychiatric behaviour defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Apaf1 A G 10: 90,903,133 (GRCm39) probably benign Het
C1ql2 A G 1: 120,270,271 (GRCm39) T278A probably damaging Het
Card14 A G 11: 119,229,232 (GRCm39) H714R possibly damaging Het
Catsperd T C 17: 56,940,521 (GRCm39) F69S probably damaging Het
Cep250 A G 2: 155,805,706 (GRCm39) E105G probably damaging Het
Coil A G 11: 88,864,962 (GRCm39) Y63C probably damaging Het
Cox14 A G 15: 99,625,559 (GRCm39) probably null Het
Defa24 T C 8: 22,224,617 (GRCm39) I22T probably damaging Het
F5 T C 1: 164,045,059 (GRCm39) Y2116H possibly damaging Het
Faf1 C T 4: 109,534,199 (GRCm39) probably benign Het
Hectd4 A G 5: 121,436,167 (GRCm39) S1026G probably benign Het
Hgf A T 5: 16,820,800 (GRCm39) H649L probably benign Het
Hmces T C 6: 87,910,283 (GRCm39) V231A probably damaging Het
Kcnh4 A G 11: 100,632,598 (GRCm39) V963A probably benign Het
Ltbp1 T C 17: 75,692,196 (GRCm39) probably null Het
Meox2 G A 12: 37,217,493 (GRCm39) probably benign Het
Mis18bp1 A C 12: 65,196,113 (GRCm39) S550R probably benign Het
Nap1l4 A T 7: 143,095,497 (GRCm39) M1K probably null Het
Nav1 G T 1: 135,512,337 (GRCm39) T241N probably damaging Het
Nbeal2 A G 9: 110,454,264 (GRCm39) W2694R probably damaging Het
Or11g2 A T 14: 50,856,579 (GRCm39) H300L probably benign Het
Or2b6 C A 13: 21,823,331 (GRCm39) D121Y probably damaging Het
Or4c52 A T 2: 89,845,855 (GRCm39) I194F possibly damaging Het
Phaf1 T C 8: 105,965,104 (GRCm39) probably benign Het
Pld1 G A 3: 28,125,426 (GRCm39) probably null Het
Podn T C 4: 107,875,055 (GRCm39) R164G probably benign Het
Qrfprl A T 6: 65,433,290 (GRCm39) H370L probably benign Het
R3hdm1 T A 1: 128,162,821 (GRCm39) L966Q probably damaging Het
Rasef A T 4: 73,662,301 (GRCm39) Y369* probably null Het
Ryr1 A T 7: 28,777,989 (GRCm39) V2176E probably damaging Het
Sec14l2 A G 11: 4,053,980 (GRCm39) L229P possibly damaging Het
Sec23a T C 12: 59,048,652 (GRCm39) S157G possibly damaging Het
Slit2 T A 5: 48,346,814 (GRCm39) W219R probably damaging Het
Smarcad1 G A 6: 65,033,400 (GRCm39) E128K probably damaging Het
Stk31 A T 6: 49,400,318 (GRCm39) N381I possibly damaging Het
Svop A G 5: 114,180,356 (GRCm39) Y264H probably damaging Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Ush2a T A 1: 188,607,066 (GRCm39) I3987N probably damaging Het
Ush2a T A 1: 188,643,738 (GRCm39) S4367T probably benign Het
Vdr A T 15: 97,765,052 (GRCm39) V229D probably damaging Het
Zc3h10 A T 10: 128,380,672 (GRCm39) C228* probably null Het
Other mutations in Ywhaz
AlleleSourceChrCoordTypePredicted EffectPPH Score
Impecunious UTSW 15 36,791,166 (GRCm39) missense probably damaging 1.00
R0559:Ywhaz UTSW 15 36,791,208 (GRCm39) missense possibly damaging 0.80
R1291:Ywhaz UTSW 15 36,772,978 (GRCm39) unclassified probably benign
R5810:Ywhaz UTSW 15 36,775,510 (GRCm39) missense probably damaging 1.00
R6579:Ywhaz UTSW 15 36,791,166 (GRCm39) missense probably damaging 1.00
R6582:Ywhaz UTSW 15 36,791,166 (GRCm39) missense probably damaging 1.00
R6583:Ywhaz UTSW 15 36,791,166 (GRCm39) missense probably damaging 1.00
R6642:Ywhaz UTSW 15 36,791,166 (GRCm39) missense probably damaging 1.00
R6643:Ywhaz UTSW 15 36,791,166 (GRCm39) missense probably damaging 1.00
X0027:Ywhaz UTSW 15 36,775,800 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- ACTGGCTCTAGACAGTCCATACCAC -3'
(R):5'- TGACATGGCAGCCTGCATGAAG -3'

Sequencing Primer
(F):5'- ACACAAACCATCAAGTAATGTTTTTC -3'
(R):5'- AGCCTGCATGAAGTCTGTCAC -3'
Posted On 2014-05-14