Incidental Mutation 'IGL02720:Trp63'
ID304975
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trp63
Ensembl Gene ENSMUSG00000022510
Gene Nametransformation related protein 63
SynonymsTAp63, deltaNp63, p63, p73L, p51/p63, KET protein, Trp53rp1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.898) question?
Stock #IGL02720
Quality Score
Status
Chromosome16
Chromosomal Location25683763-25892102 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 25863741 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 184 (D184V)
Ref Sequence ENSEMBL: ENSMUSP00000110960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040231] [ENSMUST00000065523] [ENSMUST00000115304] [ENSMUST00000115305] [ENSMUST00000115306] [ENSMUST00000115308] [ENSMUST00000115310]
Predicted Effect possibly damaging
Transcript: ENSMUST00000040231
AA Change: D184V

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000038117
Gene: ENSMUSG00000022510
AA Change: D184V

DomainStartEndE-ValueType
Pfam:P53 69 265 5.4e-110 PFAM
Pfam:P53_tetramer 297 338 2.4e-20 PFAM
low complexity region 343 356 N/A INTRINSIC
low complexity region 358 369 N/A INTRINSIC
SAM 447 513 1.4e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000065523
AA Change: D278V

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000067005
Gene: ENSMUSG00000022510
AA Change: D278V

DomainStartEndE-ValueType
Pfam:P53 163 359 4.9e-110 PFAM
Pfam:P53_tetramer 391 432 2.2e-20 PFAM
low complexity region 437 450 N/A INTRINSIC
low complexity region 452 463 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115304
AA Change: D184V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110959
Gene: ENSMUSG00000022510
AA Change: D184V

DomainStartEndE-ValueType
Pfam:P53 69 265 1.5e-111 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115305
AA Change: D184V

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110960
Gene: ENSMUSG00000022510
AA Change: D184V

DomainStartEndE-ValueType
Pfam:P53 69 265 1.1e-110 PFAM
Pfam:P53_tetramer 297 338 5.5e-21 PFAM
low complexity region 343 358 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115306
AA Change: D184V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110961
Gene: ENSMUSG00000022510
AA Change: D184V

DomainStartEndE-ValueType
Pfam:P53 69 265 2.7e-110 PFAM
Pfam:P53_tetramer 293 334 9.2e-21 PFAM
low complexity region 339 352 N/A INTRINSIC
low complexity region 354 365 N/A INTRINSIC
SAM 443 509 1.4e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000115308
AA Change: D278V

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110963
Gene: ENSMUSG00000022510
AA Change: D278V

DomainStartEndE-ValueType
Pfam:P53 163 359 3.6e-110 PFAM
Pfam:P53_tetramer 387 428 1.8e-20 PFAM
low complexity region 433 448 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115310
AA Change: D278V

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110965
Gene: ENSMUSG00000022510
AA Change: D278V

DomainStartEndE-ValueType
Pfam:P53 163 359 1.3e-112 PFAM
Pfam:P53_tetramer 391 431 7e-21 PFAM
low complexity region 437 450 N/A INTRINSIC
low complexity region 452 463 N/A INTRINSIC
SAM 541 607 1.4e-7 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes tumor protein p63, a member of the p53 family of transcription factors involved in cellular responses to stress and development. The family members include tumor proteins p53, p63, and p73, which have high sequence similarity to one another. This similarity allows p63 and p73 to transactivate p53-responsive genes causing cell cycle arrest and apoptosis. The family members can interact with each other in many ways, including direct and indirect protein interactions. This results in mutual regulation of target gene promoters. Tumor protein p63 -/- mice have several developmental defects which include the lack of limbs and other tissues, such as teeth and mammary glands, which develop as a result of interactions between mesenchyme and epithelium. Both alternative splicing and the use of alternative promoters result in multiple transcript variants encoding different protein isoforms.[provided by RefSeq, Dec 2009]
PHENOTYPE: Homozygotes for null mutations lack hair follicles, teeth, eyelids, and all squamous epithelia and derivatives including mammary, lacrymal, salivary, and prostate glands. Mutants have craniofacial anomalies, missing or truncated limbs, and small genitalia, and they die perinatally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,122,703 probably benign Het
Adgrv1 A G 13: 81,578,872 S454P probably damaging Het
Adh4 A T 3: 138,419,220 I51F possibly damaging Het
Amigo2 A T 15: 97,245,697 C281* probably null Het
Btn2a2 C T 13: 23,480,467 R307Q probably benign Het
C2cd6 T C 1: 59,051,148 I483M probably damaging Het
Capn9 T C 8: 124,600,497 probably benign Het
Carmil3 A G 14: 55,507,410 K1279E probably damaging Het
Cdadc1 T C 14: 59,586,047 Y332C probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep112 T G 11: 108,859,351 F893L probably damaging Het
Cit A G 5: 115,995,452 S1867G probably benign Het
Clptm1l T C 13: 73,614,602 probably benign Het
Cyp4a12b A T 4: 115,435,171 probably benign Het
Dlx3 G T 11: 95,123,644 W251L possibly damaging Het
Dnah1 C T 14: 31,262,220 V3993M probably damaging Het
Efs A T 14: 54,919,715 Y380N probably damaging Het
Fam53c T A 18: 34,770,667 W331R probably damaging Het
Gm5414 T C 15: 101,625,555 E331G probably damaging Het
Gstcd A G 3: 133,071,961 V363A probably benign Het
Jak1 A G 4: 101,164,450 probably benign Het
Kifc3 A G 8: 95,108,365 V264A probably benign Het
Mapk8ip2 A G 15: 89,457,582 D332G probably damaging Het
Nbeal1 G A 1: 60,283,987 E2075K probably damaging Het
Olfr553 C T 7: 102,614,839 G50E probably damaging Het
Opn5 T G 17: 42,596,626 S120R probably damaging Het
Paqr8 C T 1: 20,935,509 Q296* probably null Het
Pcsk6 C T 7: 65,980,247 R374* probably null Het
Pld1 A G 3: 28,087,262 H469R probably damaging Het
Rbl1 A G 2: 157,199,429 S93P possibly damaging Het
Reln C T 5: 21,997,941 R1287Q probably damaging Het
Rev3l C T 10: 39,822,395 R963* probably null Het
Serinc4 C T 2: 121,452,427 S418N probably benign Het
Slc6a18 A G 13: 73,669,968 M310T probably benign Het
Slitrk3 T A 3: 73,050,768 S224C probably damaging Het
Slu7 T C 11: 43,445,203 I471T probably benign Het
Stxbp5 A G 10: 9,789,361 probably null Het
Tm7sf3 A T 6: 146,613,374 probably benign Het
Trem1 C T 17: 48,232,841 S16L probably benign Het
Trp53bp2 T A 1: 182,453,724 D963E probably benign Het
Ttll6 T C 11: 96,152,073 probably null Het
Usp32 A G 11: 85,006,991 probably null Het
Vmn2r14 A T 5: 109,221,439 N89K probably damaging Het
Vmn2r76 T C 7: 86,225,706 R688G probably benign Het
Vmn2r93 A T 17: 18,305,034 H318L probably damaging Het
Vstm4 A G 14: 32,863,617 H47R probably damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Ybx2 T A 11: 69,940,331 S56T probably benign Het
Ybx2 C A 11: 69,940,332 S251Y probably benign Het
Zbtb3 T C 19: 8,804,214 probably null Het
Other mutations in Trp63
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00935:Trp63 APN 16 25871076 missense probably damaging 1.00
IGL01402:Trp63 APN 16 25820385 splice site probably benign
IGL01404:Trp63 APN 16 25820385 splice site probably benign
IGL01874:Trp63 APN 16 25882585 missense possibly damaging 0.88
IGL01887:Trp63 APN 16 25865319 missense probably damaging 1.00
IGL02008:Trp63 APN 16 25862461 missense probably damaging 1.00
IGL02336:Trp63 APN 16 25820442 missense probably damaging 1.00
IGL02470:Trp63 APN 16 25820384 splice site probably benign
IGL03230:Trp63 APN 16 25889010 missense probably damaging 1.00
PIT4142001:Trp63 UTSW 16 25865263 missense probably damaging 1.00
R0086:Trp63 UTSW 16 25871087 missense probably damaging 1.00
R0281:Trp63 UTSW 16 25764302 splice site probably benign
R1448:Trp63 UTSW 16 25889120 missense possibly damaging 0.67
R1517:Trp63 UTSW 16 25889253 missense probably damaging 1.00
R1539:Trp63 UTSW 16 25884849 missense probably benign 0.02
R3922:Trp63 UTSW 16 25889009 missense probably damaging 1.00
R3977:Trp63 UTSW 16 25820740 intron probably benign
R3978:Trp63 UTSW 16 25820740 intron probably benign
R3979:Trp63 UTSW 16 25820740 intron probably benign
R4689:Trp63 UTSW 16 25865262 missense possibly damaging 0.90
R4870:Trp63 UTSW 16 25866218 makesense probably null
R5009:Trp63 UTSW 16 25868227 missense probably damaging 0.99
R5033:Trp63 UTSW 16 25763306 missense probably damaging 0.99
R5058:Trp63 UTSW 16 25882594 missense probably damaging 1.00
R5118:Trp63 UTSW 16 25889010 missense unknown
R5354:Trp63 UTSW 16 25684355 splice site probably null
R5363:Trp63 UTSW 16 25863718 missense probably damaging 0.99
R5668:Trp63 UTSW 16 25866185 missense possibly damaging 0.52
R6004:Trp63 UTSW 16 25763396 critical splice donor site probably null
R6029:Trp63 UTSW 16 25868214 missense probably damaging 1.00
R6170:Trp63 UTSW 16 25884853 missense probably benign 0.28
R6186:Trp63 UTSW 16 25876733 intron probably benign
R6266:Trp63 UTSW 16 25862460 missense probably damaging 0.99
R6466:Trp63 UTSW 16 25763358 missense probably damaging 1.00
R6486:Trp63 UTSW 16 25865340 missense probably damaging 0.99
R6913:Trp63 UTSW 16 25889168 missense probably damaging 1.00
R6980:Trp63 UTSW 16 25802093 missense probably benign
R7097:Trp63 UTSW 16 25820477 missense probably damaging 1.00
R7122:Trp63 UTSW 16 25820477 missense probably damaging 1.00
R7544:Trp63 UTSW 16 25802087 missense probably benign
R7690:Trp63 UTSW 16 25876733 missense unknown
R7743:Trp63 UTSW 16 25882625 missense probably benign 0.05
R7766:Trp63 UTSW 16 25868219 missense probably damaging 0.97
R7792:Trp63 UTSW 16 25868224 missense possibly damaging 0.94
R7816:Trp63 UTSW 16 25889240 missense probably damaging 1.00
Z1088:Trp63 UTSW 16 25763313 missense probably benign 0.06
Posted On2015-04-16