Incidental Mutation 'R6579:Ywhaz'
ID 523952
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 044703-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.750) question?
Stock # R6579 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 36771014-36797173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36791166 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 19 (Y19C)
Ref Sequence ENSEMBL: ENSMUSP00000120610 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022894] [ENSMUST00000110359] [ENSMUST00000110361] [ENSMUST00000110362] [ENSMUST00000126184] [ENSMUST00000151635] [ENSMUST00000226851]
AlphaFold P63101
Predicted Effect probably damaging
Transcript: ENSMUST00000022894
AA Change: Y19C

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022894
Gene: ENSMUSG00000022285
AA Change: Y19C

DomainStartEndE-ValueType
14_3_3 3 242 1.25e-148 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110359
AA Change: Y19C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000110361
AA Change: Y19C

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105990
Gene: ENSMUSG00000022285
AA Change: Y19C

DomainStartEndE-ValueType
14_3_3 3 242 1.25e-148 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110362
AA Change: Y19C

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105991
Gene: ENSMUSG00000022285
AA Change: Y19C

DomainStartEndE-ValueType
14_3_3 3 242 1.25e-148 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126184
AA Change: Y19C

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000115928
Gene: ENSMUSG00000022285
AA Change: Y19C

DomainStartEndE-ValueType
14_3_3 3 88 2.26e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000151635
AA Change: Y19C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154879
Predicted Effect probably damaging
Transcript: ENSMUST00000226851
AA Change: Y19C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227067
Meta Mutation Damage Score 0.9353 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 100% (36/36)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,161,507 (GRCm39) V80D possibly damaging Het
6330409D20Rik T C 2: 32,630,663 (GRCm39) probably benign Het
Adam15 C T 3: 89,252,936 (GRCm39) V261M probably damaging Het
Adam29 G T 8: 56,325,779 (GRCm39) T225K probably damaging Het
Ankrd52 A G 10: 128,223,011 (GRCm39) T654A probably damaging Het
AU021092 T A 16: 5,040,020 (GRCm39) I35F probably damaging Het
Cdk20 G T 13: 64,584,348 (GRCm39) Q114H probably benign Het
Col22a1 A C 15: 71,753,502 (GRCm39) S133A probably benign Het
Cyp3a44 A T 5: 145,727,516 (GRCm39) F271Y probably damaging Het
Dchs1 A T 7: 105,412,120 (GRCm39) V1332E probably benign Het
Dhrs7l A T 12: 72,668,658 (GRCm39) D117E probably benign Het
Dnai7 A T 6: 145,124,744 (GRCm39) M527K probably benign Het
Dnajc5 A G 2: 181,189,209 (GRCm39) N62D possibly damaging Het
Gm3045 C T 13: 56,578,103 (GRCm39) S180L probably damaging Het
Hycc1 A T 5: 24,171,381 (GRCm39) V347D possibly damaging Het
Igkv14-130 T A 6: 67,768,421 (GRCm39) Y93* probably null Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nell2 A T 15: 95,282,957 (GRCm39) Y362N possibly damaging Het
Or5an1c C T 19: 12,218,726 (GRCm39) V100I probably benign Het
Peli1 A T 11: 21,097,059 (GRCm39) T150S probably benign Het
Pkhd1 T C 1: 20,271,047 (GRCm39) T3169A probably benign Het
Polr2m T A 9: 71,393,002 (GRCm39) E26V probably damaging Het
Rhbdf2 A G 11: 116,495,289 (GRCm39) V238A probably benign Het
Rims1 G T 1: 22,496,166 (GRCm39) P820H probably damaging Het
Rnf213 A G 11: 119,327,106 (GRCm39) T1698A probably damaging Het
Scgn C T 13: 24,143,717 (GRCm39) A216T probably damaging Het
Serpina11 T A 12: 103,951,007 (GRCm39) D238V probably damaging Het
Setd2 A T 9: 110,378,846 (GRCm39) E887V possibly damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Trak1 C A 9: 121,272,704 (GRCm39) N197K probably benign Het
Trpm2 C T 10: 77,773,660 (GRCm39) R585Q probably benign Het
Uchl5 T A 1: 143,674,130 (GRCm39) Y211N probably damaging Het
Usf3 T A 16: 44,039,197 (GRCm39) S1226T possibly damaging Het
Utrn T C 10: 12,623,750 (GRCm39) T163A probably benign Het
Zcchc14 T C 8: 122,331,206 (GRCm39) probably benign 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
R1705:Ywhaz UTSW 15 36,790,959 (GRCm39) missense possibly damaging 0.55
R5810:Ywhaz UTSW 15 36,775,510 (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'- TTGCAGATGTCACGCAGCTC -3'
(R):5'- CTCAAGCTGGTTTGAGGTACTG -3'

Sequencing Primer
(F):5'- ACGCAGCTCCGTCTCGATC -3'
(R):5'- CTGGTTTGAGGTACTGGTGTGC -3'
Posted On 2018-06-22