Incidental Mutation 'R5810:Ywhaz'
ID447485
Institutional Source Beutler Lab
Gene Symbol Ywhaz
Ensembl Gene ENSMUSG00000022285
Gene Nametyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide
Synonyms1110013I11Rik, 14-3-3 zeta
MMRRC Submission 043395-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.747) question?
Stock #R5810 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location36770770-36796929 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 36775266 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 217 (I217M)
Ref Sequence ENSEMBL: ENSMUSP00000105991 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022894] [ENSMUST00000110361] [ENSMUST00000110362] [ENSMUST00000226851]
Predicted Effect probably damaging
Transcript: ENSMUST00000022894
AA Change: I217M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022894
Gene: ENSMUSG00000022285
AA Change: I217M

DomainStartEndE-ValueType
14_3_3 3 242 1.25e-148 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110361
AA Change: I217M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105990
Gene: ENSMUSG00000022285
AA Change: I217M

DomainStartEndE-ValueType
14_3_3 3 242 1.25e-148 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110362
AA Change: I217M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105991
Gene: ENSMUSG00000022285
AA Change: I217M

DomainStartEndE-ValueType
14_3_3 3 242 1.25e-148 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154879
Predicted Effect probably benign
Transcript: ENSMUST00000226851
Meta Mutation Damage Score 0.8492 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 100% (66/66)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,079,631 F866L probably benign Het
Abca16 T A 7: 120,435,932 C314S probably damaging Het
Actl11 C T 9: 107,929,221 P248S probably benign Het
Actr3 A G 1: 125,416,379 probably benign Het
Baz1a G A 12: 54,927,715 probably benign Het
Birc6 A C 17: 74,670,374 N4388T probably damaging Het
Bpifa5 G A 2: 154,163,718 probably null Het
Car13 A C 3: 14,641,768 probably null Het
Ceacam18 A T 7: 43,636,958 H85L probably benign Het
Cnnm3 A G 1: 36,525,199 E704G probably benign Het
Cyp4f14 T A 17: 32,906,098 I450F possibly damaging Het
Ddhd1 G T 14: 45,602,707 T710N probably damaging Het
Ddx60 C T 8: 62,012,388 Q1360* probably null Het
Dlg5 A G 14: 24,146,254 V1625A probably damaging Het
Dst G A 1: 34,183,040 probably benign Het
Dyrk2 G T 10: 118,860,340 H338N probably benign Het
Epb41l1 A T 2: 156,499,655 I187F probably damaging Het
Esd A G 14: 74,745,611 D221G probably damaging Het
Fam53b T A 7: 132,760,164 N45I probably damaging Het
Fchsd1 C T 18: 37,959,873 probably benign Het
Fryl A T 5: 73,090,755 D1006E probably benign Het
Gli3 T C 13: 15,644,309 V232A probably damaging Het
Gm12666 A T 4: 92,191,583 probably null Het
Gm28308 C A 6: 52,213,216 probably benign Het
Gpatch1 G A 7: 35,295,371 A490V probably benign Het
Hoxa7 T C 6: 52,216,024 D128G probably benign Het
Igdcc4 A G 9: 65,128,695 T751A probably damaging Het
Igsf10 G A 3: 59,319,071 L2394F probably damaging Het
Il15ra A G 2: 11,733,252 probably null Het
Il17re C T 6: 113,469,596 A436V probably damaging Het
Krtap19-2 T C 16: 88,874,236 probably benign Het
Lgals12 T C 19: 7,606,720 D4G probably benign Het
Liph A T 16: 21,968,110 L252Q probably damaging Het
Mtg1 T A 7: 140,145,985 probably null Het
Myo18b A G 5: 112,834,450 L1139P probably damaging Het
Ninl T C 2: 150,950,168 R812G probably benign Het
Npm3 A G 19: 45,748,205 I165T possibly damaging Het
Olfr381 G T 11: 73,486,095 S243* probably null Het
Osbpl9 A G 4: 109,086,374 V231A probably benign Het
Pgam2 T C 11: 5,803,417 H91R possibly damaging Het
Pkhd1 A G 1: 20,200,673 W3219R probably benign Het
Procr A G 2: 155,751,407 K4E possibly damaging Het
Slc22a16 C T 10: 40,595,318 T495I possibly damaging Het
Slc22a6 A G 19: 8,623,858 K425E probably damaging Het
Slco6c1 A T 1: 97,075,873 C500S probably damaging Het
Snrpd2 G T 7: 19,152,522 V77F probably benign Het
Sp100 G A 1: 85,665,285 G145D probably benign Het
Spg7 G A 8: 123,094,569 E678K possibly damaging Het
Ssh1 T C 5: 113,946,566 K538E probably benign Het
Sspo C T 6: 48,483,898 R3356W probably benign Het
Stx1a G T 5: 135,049,078 V255F probably damaging Het
Tbc1d13 C A 2: 30,142,368 Q164K probably benign Het
Tfpi AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA 2: 84,434,424 probably benign Het
Tpm2 T C 4: 43,518,968 probably benign Het
Triobp T C 15: 78,968,267 C874R probably benign Het
Tymp T A 15: 89,374,331 H269L probably damaging Het
Vmn1r194 T A 13: 22,244,427 Y71* probably null Het
Vmn2r102 T C 17: 19,677,542 V273A probably benign Het
Vmn2r2 A T 3: 64,117,394 C589S probably damaging Het
Vps13a T C 19: 16,666,324 T2063A probably benign Het
Zfp322a A C 13: 23,357,409 Y54* probably null Het
Zswim9 A T 7: 13,260,735 V498D probably damaging Het
Other mutations in Ywhaz
AlleleSourceChrCoordTypePredicted EffectPPH Score
Impecunious UTSW 15 36790922 missense probably damaging 1.00
R0559:Ywhaz UTSW 15 36790964 missense possibly damaging 0.80
R1291:Ywhaz UTSW 15 36772734 unclassified probably benign
R1705:Ywhaz UTSW 15 36790715 missense possibly damaging 0.55
R6579:Ywhaz UTSW 15 36790922 missense probably damaging 1.00
R6582:Ywhaz UTSW 15 36790922 missense probably damaging 1.00
R6583:Ywhaz UTSW 15 36790922 missense probably damaging 1.00
R6642:Ywhaz UTSW 15 36790922 missense probably damaging 1.00
R6643:Ywhaz UTSW 15 36790922 missense probably damaging 1.00
X0027:Ywhaz UTSW 15 36775556 missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- ACACAACTGACTATGGGATGAC -3'
(R):5'- AGAAAGCCTGCTCTCTTGC -3'

Sequencing Primer
(F):5'- CTATGGGATGACAAAGAAACTACTC -3'
(R):5'- CCTGCTCTCTTGCAAAAACAGTATG -3'
Posted On2016-12-15