Incidental Mutation 'IGL02893:Ywhaq'
ID 363309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ywhaq
Ensembl Gene ENSMUSG00000076432
Gene Name tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta
Synonyms 14-3-3 tau, 14-3-3 theta, 2700028P07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.244) question?
Stock # IGL02893
Quality Score
Status
Chromosome 12
Chromosomal Location 21440330-21467437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21446410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 152 (A152V)
Ref Sequence ENSEMBL: ENSMUSP00000117118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049531] [ENSMUST00000103002] [ENSMUST00000135088] [ENSMUST00000155480]
AlphaFold P68254
Predicted Effect probably damaging
Transcript: ENSMUST00000049531
AA Change: A152V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106602
Gene: ENSMUSG00000076432
AA Change: A152V

DomainStartEndE-ValueType
14_3_3 3 242 6.88e-137 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103002
AA Change: A152V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100067
Gene: ENSMUSG00000076432
AA Change: A152V

DomainStartEndE-ValueType
14_3_3 3 242 6.88e-137 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000135088
AA Change: A152V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123605
Gene: ENSMUSG00000076432
AA Change: A152V

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
low complexity region 36 47 N/A INTRINSIC
14_3_3 61 300 6.88e-137 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140710
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146206
Predicted Effect probably damaging
Transcript: ENSMUST00000155480
AA Change: A152V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117118
Gene: ENSMUSG00000076432
AA Change: A152V

DomainStartEndE-ValueType
14_3_3 3 237 1.41e-124 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Embryos homozygous for a gene trap allele are developmentally delayed and die by E14 with no specific cardiac defects; however, heterozygotes develop larger myocardial infarctions with increased post-infarction cardiac remodeling while cultured cardiomyocytes are sensitized to proapoptotic stimuli. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,240,543 (GRCm39) V802A probably damaging Het
Acsl6 G A 11: 54,236,725 (GRCm39) V540M probably damaging Het
Ahctf1 A C 1: 179,603,576 (GRCm39) Y823* probably null Het
Bbs1 T A 19: 4,947,604 (GRCm39) K317* probably null Het
Cand2 T C 6: 115,768,921 (GRCm39) L577P probably damaging Het
Cfap44 A T 16: 44,237,180 (GRCm39) D449V probably damaging Het
Col28a1 C T 6: 8,103,534 (GRCm39) G421S probably damaging Het
Dgkd A G 1: 87,842,930 (GRCm39) probably benign Het
Entpd1 T C 19: 40,715,961 (GRCm39) V347A probably damaging Het
Etl4 T A 2: 20,765,021 (GRCm39) probably benign Het
Fam20a G A 11: 109,612,414 (GRCm39) A43V probably benign Het
Fbxo9 A G 9: 77,989,377 (GRCm39) probably benign Het
Flg2 C T 3: 93,110,920 (GRCm39) R983W unknown Het
Gale T C 4: 135,694,913 (GRCm39) V295A probably benign Het
Gpr139 A T 7: 118,744,366 (GRCm39) V73D probably damaging Het
Hpca A T 4: 129,012,215 (GRCm39) M107K probably damaging Het
Igdcc4 G T 9: 65,040,353 (GRCm39) V1002F probably damaging Het
Irx4 T A 13: 73,416,897 (GRCm39) L431H probably damaging Het
Lca5l T C 16: 95,980,113 (GRCm39) T6A probably benign Het
Lrp4 C T 2: 91,305,161 (GRCm39) R263C possibly damaging Het
Meikin G A 11: 54,308,584 (GRCm39) C394Y possibly damaging Het
Mmp25 T C 17: 23,863,025 (GRCm39) T129A probably damaging Het
Mmp9 A G 2: 164,790,988 (GRCm39) probably null Het
Mtmr3 A T 11: 4,457,632 (GRCm39) M171K possibly damaging Het
Muc4 C T 16: 32,570,466 (GRCm39) H509Y possibly damaging Het
Nwd1 A T 8: 73,394,129 (GRCm39) H464L probably damaging Het
Or5k1 A G 16: 58,618,020 (GRCm39) L63P probably damaging Het
Paqr5 G A 9: 61,876,150 (GRCm39) A128V probably benign Het
Pcdhb10 G A 18: 37,546,687 (GRCm39) V588M probably damaging Het
Pip A G 6: 41,824,596 (GRCm39) D28G probably damaging Het
Rnf31 T A 14: 55,836,566 (GRCm39) F800Y probably damaging Het
Sag T G 1: 87,762,315 (GRCm39) S327A probably benign Het
Sdf4 T C 4: 156,080,985 (GRCm39) probably benign Het
Slc10a6 A T 5: 103,776,739 (GRCm39) D120E probably benign Het
Spata31d1d T A 13: 59,873,793 (GRCm39) K1247N possibly damaging Het
Stam2 A G 2: 52,604,914 (GRCm39) V207A probably damaging Het
Sytl3 T C 17: 7,000,373 (GRCm39) L181P probably damaging Het
Tbc1d32 T C 10: 55,893,799 (GRCm39) E1258G probably damaging Het
Tmem63b T G 17: 45,972,826 (GRCm39) H656P probably damaging Het
Tmem69 T A 4: 116,410,926 (GRCm39) M15L probably benign Het
Tmprss7 T A 16: 45,489,891 (GRCm39) I444F possibly damaging Het
Ttbk2 C A 2: 120,614,210 (GRCm39) R168L probably damaging Het
Ttc28 A G 5: 111,433,251 (GRCm39) Y2095C possibly damaging Het
Ube3c A G 5: 29,837,761 (GRCm39) Y643C probably damaging Het
Zeb2 T A 2: 44,886,619 (GRCm39) I813F probably benign Het
Other mutations in Ywhaq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03240:Ywhaq APN 12 21,445,001 (GRCm39) missense possibly damaging 0.68
R0423:Ywhaq UTSW 12 21,441,382 (GRCm39) utr 3 prime probably benign
R1172:Ywhaq UTSW 12 21,445,024 (GRCm39) missense probably benign 0.00
R4821:Ywhaq UTSW 12 21,467,512 (GRCm39) utr 5 prime probably benign
R5365:Ywhaq UTSW 12 21,446,389 (GRCm39) missense possibly damaging 0.91
R6959:Ywhaq UTSW 12 21,446,281 (GRCm39) critical splice donor site probably null
R7022:Ywhaq UTSW 12 21,441,752 (GRCm39) intron probably benign
R7183:Ywhaq UTSW 12 21,466,870 (GRCm39) missense possibly damaging 0.91
R7320:Ywhaq UTSW 12 21,444,982 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18