Incidental Mutation 'R6643:Ywhaz'
ID 525957
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 044764-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.750) question?
Stock # R6643 (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: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (39/39)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,183,644 (GRCm39) S140P probably damaging Het
Atp5mc1 A C 11: 95,964,854 (GRCm39) C17W probably damaging Het
Brd4 A G 17: 32,417,470 (GRCm39) S161P unknown Het
Cntrob A G 11: 69,202,248 (GRCm39) V448A possibly damaging Het
Col22a1 T C 15: 71,693,886 (GRCm39) probably null Het
Col6a4 T C 9: 105,877,830 (GRCm39) Y2049C probably damaging Het
Cpn1 C T 19: 43,948,472 (GRCm39) D395N probably benign Het
Csmd2 A G 4: 128,266,390 (GRCm39) T769A probably benign Het
Cts6 T A 13: 61,349,607 (GRCm39) H62L probably damaging Het
Ddx42 G T 11: 106,119,646 (GRCm39) V144F probably benign Het
E130308A19Rik A G 4: 59,720,561 (GRCm39) S698G possibly damaging Het
Eif2b3 T C 4: 116,927,954 (GRCm39) L391P probably damaging Het
Gm1043 T C 5: 37,330,895 (GRCm39) I525T probably benign Het
Kifc1 C T 17: 34,104,829 (GRCm39) G59S probably benign Het
Lancl1 T C 1: 67,043,542 (GRCm39) E360G probably benign Het
Lrp4 T C 2: 91,332,340 (GRCm39) L1679S probably benign Het
Mroh9 T A 1: 162,903,130 (GRCm39) D91V probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Ntsr1 T C 2: 180,142,719 (GRCm39) I170T probably damaging Het
Or2ag15 T A 7: 106,340,911 (GRCm39) I77F probably benign Het
Or2ag16 A G 7: 106,351,776 (GRCm39) I273T probably benign Het
Or6n2 T C 1: 173,897,611 (GRCm39) L249P probably damaging Het
Or6z5 G A 7: 6,477,720 (GRCm39) D204N probably benign Het
Pcolce T A 5: 137,607,165 (GRCm39) T109S probably damaging Het
Reg3b C A 6: 78,349,905 (GRCm39) S148R possibly damaging Het
Rps6ka4 A G 19: 6,809,731 (GRCm39) S365P probably damaging Het
Slc27a4 A G 2: 29,702,860 (GRCm39) E563G probably benign Het
Slc4a10 C T 2: 62,059,054 (GRCm39) T187M possibly damaging Het
Slc5a7 G T 17: 54,583,644 (GRCm39) Q549K probably benign Het
Stxbp3 A G 3: 108,701,150 (GRCm39) L573P probably damaging Het
Suco A T 1: 161,687,001 (GRCm39) S120T possibly damaging Het
Tnni2 G T 7: 141,998,016 (GRCm39) G163V probably damaging Het
Ttl T C 2: 128,923,262 (GRCm39) I201T possibly damaging Het
Vmn1r28 A G 6: 58,242,945 (GRCm39) T263A probably benign Het
Wdr1 A T 5: 38,697,521 (GRCm39) D262E probably damaging Het
Xylb A G 9: 119,196,559 (GRCm39) H114R probably damaging Het
Zdbf2 A G 1: 63,343,667 (GRCm39) E682G possibly damaging 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
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
X0027:Ywhaz UTSW 15 36,775,800 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- TTGCAGATGTCACGCAGCTC -3'
(R):5'- TGCCTTTTAATTGCTCAAGCTG -3'

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