Incidental Mutation 'R1172:Ywhaq'
ID 99601
Institutional Source Beutler Lab
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
MMRRC Submission 039245-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.244) question?
Stock # R1172 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 21440330-21467437 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21445024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 207 (N207S)
Ref Sequence ENSEMBL: ENSMUSP00000123605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049531] [ENSMUST00000103002] [ENSMUST00000135088] [ENSMUST00000155480]
AlphaFold P68254
Predicted Effect probably benign
Transcript: ENSMUST00000049531
AA Change: N207S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000106602
Gene: ENSMUSG00000076432
AA Change: N207S

DomainStartEndE-ValueType
14_3_3 3 242 6.88e-137 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103002
AA Change: N207S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000100067
Gene: ENSMUSG00000076432
AA Change: N207S

DomainStartEndE-ValueType
14_3_3 3 242 6.88e-137 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135088
AA Change: N207S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000123605
Gene: ENSMUSG00000076432
AA Change: N207S

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 benign
Transcript: ENSMUST00000155480
AA Change: N207S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117118
Gene: ENSMUSG00000076432
AA Change: N207S

DomainStartEndE-ValueType
14_3_3 3 237 1.41e-124 SMART
Meta Mutation Damage Score 0.0587 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 98% (62/63)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A T 2: 93,696,589 (GRCm39) probably benign Het
Adam7 T G 14: 68,752,370 (GRCm39) K371N probably damaging Het
Adgrv1 A T 13: 81,705,182 (GRCm39) S1543T probably damaging Het
Agbl4 A T 4: 111,513,515 (GRCm39) probably benign Het
Arid1b T A 17: 5,389,575 (GRCm39) I1707N probably damaging Het
Atp10a T C 7: 58,453,514 (GRCm39) V864A probably benign Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Bst1 A G 5: 43,982,750 (GRCm39) probably null Het
C9orf72 C A 4: 35,218,630 (GRCm39) E76D probably damaging Het
Cblb T C 16: 52,006,603 (GRCm39) probably benign Het
Ccdc28b T C 4: 129,514,682 (GRCm39) probably benign Het
Cmas G T 6: 142,702,604 (GRCm39) G36C probably benign Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Epc1 A C 18: 6,490,525 (GRCm39) Y31D probably damaging Het
Fbn1 A T 2: 125,236,607 (GRCm39) C358S probably benign Het
Fbxl13 A T 5: 21,825,602 (GRCm39) probably benign Het
Fermt2 T C 14: 45,697,425 (GRCm39) D642G possibly damaging Het
Fmnl2 A T 2: 52,962,286 (GRCm39) N257I probably damaging Het
Fry G A 5: 150,404,959 (GRCm39) W793* probably null Het
Fsd2 T C 7: 81,209,518 (GRCm39) D108G probably benign Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm10801 C T 2: 98,494,252 (GRCm39) probably benign Het
Gm21718 T C 14: 51,553,348 (GRCm39) noncoding transcript Het
Gpld1 A G 13: 25,141,549 (GRCm39) probably null Het
Gtf3c2 A T 5: 31,325,419 (GRCm39) Y500N probably damaging Het
Hbs1l A G 10: 21,180,537 (GRCm39) D73G probably damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Kank4 T C 4: 98,653,806 (GRCm39) Y874C probably damaging Het
Lamc2 A T 1: 153,042,033 (GRCm39) S34T probably damaging Het
Laptm4a T C 12: 8,986,716 (GRCm39) V258A probably damaging Het
Lrrc19 A T 4: 94,526,626 (GRCm39) Y310* probably null Het
Map3k5 G A 10: 19,932,394 (GRCm39) probably benign Het
Map7 G A 10: 20,121,045 (GRCm39) E92K probably damaging Het
Mettl24 G A 10: 40,613,704 (GRCm39) A148T probably benign Het
Mosmo A G 7: 120,329,745 (GRCm39) Y122C probably benign Het
Ncr1 T A 7: 4,341,120 (GRCm39) I37N probably benign Het
Nkx3-1 T C 14: 69,429,434 (GRCm39) S151P probably damaging Het
Npm2 T A 14: 70,889,661 (GRCm39) K54* probably null Het
Npr1 T A 3: 90,368,689 (GRCm39) D457V probably benign Het
Nudt21 T C 8: 94,757,757 (GRCm39) probably benign Het
Pcnt A T 10: 76,228,878 (GRCm39) probably null Het
Pik3r4 G T 9: 105,540,373 (GRCm39) G754C probably damaging Het
Rftn2 A G 1: 55,250,376 (GRCm39) V123A probably damaging Het
Rpa1 A T 11: 75,203,219 (GRCm39) V392D probably damaging Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Slc45a4 C T 15: 73,477,278 (GRCm39) probably benign Het
Syndig1l T A 12: 84,725,942 (GRCm39) probably null Het
Tctn1 G A 5: 122,389,752 (GRCm39) R257* probably null Het
Tenm4 A T 7: 96,497,251 (GRCm39) E1179V probably damaging Het
Txlnb A G 10: 17,718,504 (GRCm39) N445S probably benign Het
Tyrp1 C T 4: 80,763,105 (GRCm39) Q331* probably null Het
Ubap2l A T 3: 89,930,807 (GRCm39) S413T probably benign Het
Vdr A T 15: 97,767,214 (GRCm39) Y185N probably benign Het
Vmn2r66 G T 7: 84,654,799 (GRCm39) D503E probably benign Het
Vmn2r72 T A 7: 85,401,152 (GRCm39) E89V probably damaging Het
Vmn2r87 T C 10: 130,313,453 (GRCm39) T438A probably benign Het
Xrcc6 A G 15: 81,915,364 (GRCm39) D94G probably damaging Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D possibly damaging Het
Zfp981 G A 4: 146,622,221 (GRCm39) S382N probably benign Het
Other mutations in Ywhaq
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02893:Ywhaq APN 12 21,446,410 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers
Posted On 2014-01-15