Incidental Mutation 'IGL02338:Yap1'
ID 288976
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Yap1
Ensembl Gene ENSMUSG00000053110
Gene Name yes-associated protein 1
Synonyms yorkie, Yki, Yap
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02338
Quality Score
Status
Chromosome 9
Chromosomal Location 7932000-8004597 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 7962282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000065353] [ENSMUST00000086580] [ENSMUST00000173085] [ENSMUST00000173264] [ENSMUST00000174577]
AlphaFold P46938
Predicted Effect probably benign
Transcript: ENSMUST00000065353
SMART Domains Protein: ENSMUSP00000069554
Gene: ENSMUSG00000053110

DomainStartEndE-ValueType
low complexity region 3 35 N/A INTRINSIC
PDB:3KYS|D 36 156 4e-68 PDB
WW 157 189 5.63e-12 SMART
WW 216 248 8.66e-13 SMART
coiled coil region 283 316 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000086580
SMART Domains Protein: ENSMUSP00000083772
Gene: ENSMUSG00000053110

DomainStartEndE-ValueType
low complexity region 3 35 N/A INTRINSIC
PDB:3KYS|D 36 156 3e-68 PDB
WW 157 189 5.63e-12 SMART
WW 216 248 8.66e-13 SMART
coiled coil region 283 314 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173085
SMART Domains Protein: ENSMUSP00000134007
Gene: ENSMUSG00000053110

DomainStartEndE-ValueType
low complexity region 3 35 N/A INTRINSIC
PDB:3KYS|D 36 156 2e-69 PDB
WW 157 189 5.63e-12 SMART
WW 216 248 8.66e-13 SMART
coiled coil region 283 314 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173264
SMART Domains Protein: ENSMUSP00000134237
Gene: ENSMUSG00000053110

DomainStartEndE-ValueType
low complexity region 3 35 N/A INTRINSIC
PDB:3KYS|D 36 156 3e-69 PDB
WW 157 189 5.63e-12 SMART
WW 216 248 8.66e-13 SMART
coiled coil region 283 316 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174127
Predicted Effect probably benign
Transcript: ENSMUST00000174577
SMART Domains Protein: ENSMUSP00000133959
Gene: ENSMUSG00000053110

DomainStartEndE-ValueType
low complexity region 3 35 N/A INTRINSIC
PDB:3KYS|D 36 156 2e-69 PDB
WW 157 189 5.63e-12 SMART
WW 216 248 8.66e-13 SMART
coiled coil region 283 314 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000174604
SMART Domains Protein: ENSMUSP00000134250
Gene: ENSMUSG00000053110

DomainStartEndE-ValueType
low complexity region 36 49 N/A INTRINSIC
WW 64 96 5.63e-12 SMART
WW 123 155 8.66e-13 SMART
coiled coil region 191 224 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174760
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein which binds to the SH3 domain of the Yes proto-oncogene product, a tyrosine kinase. This protein contains a WW domain, consisting of four conserved aromatic amino acids including two tryptophan residues. This conserved WW domain is found in various structural, regulatory and signaling molecules in various species, and may play a role in protein-protein interaction. Following cellular damage, phosphorylation of this encoded protein may suppress apoptosis. This protein may be involved in malignant transformation in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
PHENOTYPE: Embryos homozygous for a null mutation of this gene die between embryonic days E9.5 and E10.5 due to yolk sac avasculogenesis and failure of attachment between the allantois and the chorion. Heterozygous mice are viable, appear normal and are fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 G A 4: 132,789,860 (GRCm39) C367Y possibly damaging Het
AI182371 T A 2: 34,975,728 (GRCm39) I279L probably benign Het
Ambp A T 4: 63,061,934 (GRCm39) C332S probably damaging Het
App T C 16: 84,970,407 (GRCm39) T14A probably benign Het
Asap1 A T 15: 63,995,519 (GRCm39) probably null Het
Aurka T C 2: 172,201,778 (GRCm39) R242G probably benign Het
BC034090 G A 1: 155,093,217 (GRCm39) P747L probably damaging Het
Bcl6b T C 11: 70,119,918 (GRCm39) D23G probably damaging Het
Cabp2 A C 19: 4,134,154 (GRCm39) E42A possibly damaging Het
Ccdc14 G A 16: 34,542,173 (GRCm39) S557N probably benign Het
Ccdc146 G T 5: 21,524,604 (GRCm39) probably benign Het
Cenpf T A 1: 189,412,615 (GRCm39) Q216L probably damaging Het
Ces1b G A 8: 93,783,675 (GRCm39) P515L possibly damaging Het
Col6a5 A T 9: 105,755,829 (GRCm39) N2198K probably damaging Het
Csmd2 A G 4: 128,288,859 (GRCm39) S1133G possibly damaging Het
Cspg5 G A 9: 110,085,335 (GRCm39) R502H probably benign Het
Cyp2g1 A G 7: 26,514,229 (GRCm39) probably benign Het
Dnajc27 A G 12: 4,146,229 (GRCm39) Y86C probably damaging Het
Dnm1 T C 2: 32,202,783 (GRCm39) D715G probably damaging Het
Dock1 G T 7: 134,734,804 (GRCm39) L1317F possibly damaging Het
Fanci T A 7: 79,083,279 (GRCm39) Y727* probably null Het
Fbxw20 T A 9: 109,055,046 (GRCm39) T168S probably benign Het
Folh1 A T 7: 86,385,723 (GRCm39) probably benign Het
Gas7 A T 11: 67,573,557 (GRCm39) S379C probably damaging Het
Gbp2b A G 3: 142,309,987 (GRCm39) E259G probably benign Het
Gm8325 T C 3: 60,784,805 (GRCm39) noncoding transcript Het
Gpr75 A T 11: 30,841,730 (GRCm39) T212S probably benign Het
Itgb4 A G 11: 115,898,795 (GRCm39) T1711A probably damaging Het
Ly75 T C 2: 60,184,796 (GRCm39) S453G probably benign Het
Maneal A G 4: 124,754,276 (GRCm39) probably benign Het
Marco A T 1: 120,422,508 (GRCm39) I58N possibly damaging Het
Mtcl1 A G 17: 66,686,965 (GRCm39) I647T probably damaging Het
Mtfr1l A T 4: 134,258,054 (GRCm39) V56D probably damaging Het
Npy1r G A 8: 67,156,954 (GRCm39) V125I probably damaging Het
Or1j19 C T 2: 36,676,557 (GRCm39) Q7* probably null Het
Or52n20 T C 7: 104,320,888 (GRCm39) probably benign Het
Or7g25 A G 9: 19,159,960 (GRCm39) L245P probably damaging Het
Osmr A T 15: 6,867,210 (GRCm39) L362* probably null Het
Pdlim2 T C 14: 70,411,906 (GRCm39) D42G probably damaging Het
Plcb4 T A 2: 135,842,100 (GRCm39) I89N possibly damaging Het
Prrc2b T A 2: 32,104,047 (GRCm39) M1175K probably benign Het
Pzp T A 6: 128,463,133 (GRCm39) N1423I probably benign Het
Retnla G A 16: 48,664,561 (GRCm39) C105Y probably damaging Het
Samd8 T A 14: 21,825,544 (GRCm39) S167T possibly damaging Het
Scg2 A G 1: 79,414,210 (GRCm39) M171T possibly damaging Het
Slc30a5 A G 13: 100,939,941 (GRCm39) V658A probably damaging Het
Slc41a2 T C 10: 83,152,455 (GRCm39) R7G possibly damaging Het
Slc44a2 A G 9: 21,258,338 (GRCm39) T500A probably damaging Het
Slc44a4 G T 17: 35,142,786 (GRCm39) G396V possibly damaging Het
Smarca5 A G 8: 81,446,199 (GRCm39) probably benign Het
St8sia6 T A 2: 13,798,156 (GRCm39) R34W probably damaging Het
Stk-ps2 T A 1: 46,069,337 (GRCm39) noncoding transcript Het
Stn1 T C 19: 47,502,329 (GRCm39) Y235C probably damaging Het
Tbx15 A G 3: 99,259,800 (GRCm39) Y557C probably damaging Het
Tgfbr1 G A 4: 47,393,490 (GRCm39) probably null Het
Thsd7b G T 1: 129,523,508 (GRCm39) V181L probably damaging Het
Tmpo G A 10: 90,999,104 (GRCm39) R228C probably benign Het
Trpm4 T G 7: 44,976,422 (GRCm39) R51S probably damaging Het
Vmn1r91 A T 7: 19,835,671 (GRCm39) T197S probably damaging Het
Vmn2r-ps158 T C 7: 42,697,160 (GRCm39) I739T probably damaging Het
Xrn1 A G 9: 95,859,880 (GRCm39) D424G probably benign Het
Zer1 T C 2: 30,003,405 (GRCm39) D4G probably damaging Het
Zfp462 A T 4: 55,010,292 (GRCm39) I753F possibly damaging Het
Other mutations in Yap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Yap1 APN 9 7,934,742 (GRCm39) splice site probably benign
IGL01404:Yap1 APN 9 7,934,742 (GRCm39) splice site probably benign
IGL02398:Yap1 APN 9 7,950,536 (GRCm39) missense probably benign 0.06
IGL02793:Yap1 APN 9 7,973,907 (GRCm39) missense probably benign 0.44
Puddel_hunde UTSW 9 8,004,285 (GRCm39) missense probably damaging 1.00
R0410:Yap1 UTSW 9 8,001,468 (GRCm39) missense probably damaging 1.00
R1507:Yap1 UTSW 9 7,953,141 (GRCm39) splice site probably benign
R1837:Yap1 UTSW 9 7,962,350 (GRCm39) missense probably damaging 1.00
R3968:Yap1 UTSW 9 7,973,877 (GRCm39) missense probably damaging 1.00
R3978:Yap1 UTSW 9 8,004,285 (GRCm39) missense probably damaging 1.00
R4111:Yap1 UTSW 9 7,938,432 (GRCm39) makesense probably null
R4113:Yap1 UTSW 9 7,938,432 (GRCm39) makesense probably null
R4573:Yap1 UTSW 9 7,934,682 (GRCm39) missense probably damaging 1.00
R5028:Yap1 UTSW 9 8,001,690 (GRCm39) missense probably benign 0.05
R6397:Yap1 UTSW 9 8,001,467 (GRCm39) missense probably damaging 1.00
R6407:Yap1 UTSW 9 7,962,373 (GRCm39) missense possibly damaging 0.46
R7743:Yap1 UTSW 9 7,962,379 (GRCm39) missense probably benign 0.04
X0020:Yap1 UTSW 9 7,938,436 (GRCm39) missense possibly damaging 0.93
Posted On 2015-04-16