Incidental Mutation 'IGL03093:Trp73'
ID 418466
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trp73
Ensembl Gene ENSMUSG00000029026
Gene Name transformation related protein 73
Synonyms deltaNp73, TAp73, p73
Accession Numbers
Essential gene? Possibly essential (E-score: 0.665) question?
Stock # IGL03093
Quality Score
Status
Chromosome 4
Chromosomal Location 154140706-154224332 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 154189330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 48 (M48T)
Ref Sequence ENSEMBL: ENSMUSP00000114736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105644] [ENSMUST00000139634]
AlphaFold Q9JJP2
Predicted Effect probably benign
Transcript: ENSMUST00000105644
AA Change: M8T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101269
Gene: ENSMUSG00000029026
AA Change: M8T

DomainStartEndE-ValueType
Pfam:P53 112 308 3.1e-115 PFAM
Pfam:P53_tetramer 344 383 8.3e-21 PFAM
low complexity region 390 398 N/A INTRINSIC
SAM 486 552 2.71e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139634
AA Change: M48T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114736
Gene: ENSMUSG00000029026
AA Change: M48T

DomainStartEndE-ValueType
low complexity region 9 27 N/A INTRINSIC
Pfam:P53 152 204 3.1e-25 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes tumor protein p73, which is a member of the p53 family of transcription factors involved in cellular responses to stress and development. The family members include p53, p63, and p73 and have high sequence similarity to one another, which 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 involving direct or indirect protein interactions, resulting in regulation of the same target gene promoters or regulation of each other's promoters. The p73 protein is expressed at very low levels in normal tissues and is differentially expressed in a number of tumors. The p73 gene expresses at least 35 mRNA variants due to the use of alternate promoters, alternate translation initiation sites, and multiple splice variations. Theoretically this can account for 29 different p73 isoforms; however, the biological validity and the full-length nature of most variants have not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice display a variety of defects including hippocampal dysgenesis, hydrocephalus, chronic infections and inflammation, abnormal pheromone sensory pathways, eye abnormalities, impaired growth, and female infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 A G 19: 53,219,638 (GRCm39) D121G probably damaging Het
Cacna1s A G 1: 136,043,802 (GRCm39) D1380G probably benign Het
Clca3a1 T C 3: 144,453,262 (GRCm39) Y487C probably damaging Het
Coro2a A G 4: 46,544,158 (GRCm39) S278P possibly damaging Het
Creb3l3 A G 10: 80,927,047 (GRCm39) S128P probably benign Het
Dab2 A G 15: 6,465,892 (GRCm39) R697G probably damaging Het
Erap1 T C 13: 74,823,399 (GRCm39) F811S probably benign Het
Fam170b A G 14: 32,557,482 (GRCm39) S106G probably damaging Het
Galk2 T C 2: 125,771,563 (GRCm39) L196P probably damaging Het
Gan T C 8: 117,910,314 (GRCm39) M81T probably benign Het
Gemin2 A G 12: 59,068,511 (GRCm39) T197A probably benign Het
Hemgn A T 4: 46,396,504 (GRCm39) M244K probably benign Het
Htr6 A G 4: 138,789,080 (GRCm39) F325S probably damaging Het
Igkv9-120 A G 6: 68,027,398 (GRCm39) D104G probably damaging Het
Itpr2 A C 6: 146,281,008 (GRCm39) I216S probably damaging Het
Lingo1 T C 9: 56,526,748 (GRCm39) I614V possibly damaging Het
Mep1b C T 18: 21,226,710 (GRCm39) T524M probably benign Het
Mtif2 A G 11: 29,480,702 (GRCm39) probably benign Het
Mylk G A 16: 34,732,562 (GRCm39) R614H possibly damaging Het
Or2ag2 T C 7: 106,485,410 (GRCm39) T205A probably benign Het
Or52s19 T C 7: 103,007,446 (GRCm39) probably benign Het
Pabpc4 G A 4: 123,180,502 (GRCm39) D75N probably damaging Het
Paics T A 5: 77,109,355 (GRCm39) probably null Het
Prl T A 13: 27,248,870 (GRCm39) I172N probably benign Het
Ripk2 A G 4: 16,152,056 (GRCm39) S168P probably damaging Het
Siglecf T C 7: 43,001,865 (GRCm39) V225A probably damaging Het
Slc36a1 A G 11: 55,110,430 (GRCm39) I86V probably benign Het
Slc6a13 A G 6: 121,309,407 (GRCm39) Y306C probably damaging Het
Soat2 T A 15: 102,066,078 (GRCm39) L250Q probably damaging Het
Tex38 A G 4: 115,637,762 (GRCm39) S14P probably damaging Het
Tm2d1 A T 4: 98,268,921 (GRCm39) C59S possibly damaging Het
Tmco1 A G 1: 167,143,848 (GRCm39) D82G probably damaging Het
Tmem245 G A 4: 56,886,019 (GRCm39) R866W probably damaging Het
Tnip1 G T 11: 54,831,652 (GRCm39) Y7* probably null Het
Tslp T C 18: 32,948,612 (GRCm39) probably benign Het
Usp47 T C 7: 111,688,827 (GRCm39) F745L probably damaging Het
Vmn2r53 T A 7: 12,334,791 (GRCm39) T290S probably benign Het
Wdr1 T C 5: 38,718,472 (GRCm39) D30G probably benign Het
Zkscan2 T C 7: 123,094,073 (GRCm39) Y247C probably benign Het
Other mutations in Trp73
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02150:Trp73 APN 4 154,165,943 (GRCm39) missense possibly damaging 0.82
IGL02264:Trp73 APN 4 154,148,885 (GRCm39) missense probably null 0.98
IGL02344:Trp73 APN 4 154,146,500 (GRCm39) missense possibly damaging 0.92
IGL02663:Trp73 APN 4 154,146,963 (GRCm39) splice site probably null
IGL02956:Trp73 APN 4 154,148,920 (GRCm39) splice site probably benign
slowpoke UTSW 4 154,149,089 (GRCm39) splice site probably null
R0238:Trp73 UTSW 4 154,146,981 (GRCm39) unclassified probably benign
R0238:Trp73 UTSW 4 154,146,981 (GRCm39) unclassified probably benign
R0363:Trp73 UTSW 4 154,148,406 (GRCm39) missense probably benign 0.17
R0409:Trp73 UTSW 4 154,148,841 (GRCm39) missense possibly damaging 0.81
R1161:Trp73 UTSW 4 154,165,780 (GRCm39) splice site probably null
R1531:Trp73 UTSW 4 154,148,352 (GRCm39) missense probably benign 0.31
R2002:Trp73 UTSW 4 154,165,902 (GRCm39) missense probably damaging 1.00
R2185:Trp73 UTSW 4 154,189,274 (GRCm39) critical splice donor site probably null
R3965:Trp73 UTSW 4 154,146,493 (GRCm39) missense probably benign 0.03
R3966:Trp73 UTSW 4 154,146,493 (GRCm39) missense probably benign 0.03
R4247:Trp73 UTSW 4 154,149,089 (GRCm39) splice site probably null
R4595:Trp73 UTSW 4 154,148,874 (GRCm39) missense probably damaging 0.99
R5170:Trp73 UTSW 4 154,189,295 (GRCm39) missense possibly damaging 0.95
R5260:Trp73 UTSW 4 154,147,059 (GRCm39) missense possibly damaging 0.48
R5622:Trp73 UTSW 4 154,145,049 (GRCm39) missense possibly damaging 0.68
R6173:Trp73 UTSW 4 154,188,798 (GRCm39) missense probably damaging 1.00
R6252:Trp73 UTSW 4 154,148,854 (GRCm39) missense probably damaging 1.00
R6950:Trp73 UTSW 4 154,146,510 (GRCm39) missense probably benign 0.18
R7043:Trp73 UTSW 4 154,151,464 (GRCm39) splice site probably null
R7050:Trp73 UTSW 4 154,165,899 (GRCm39) missense probably damaging 1.00
R7052:Trp73 UTSW 4 154,149,140 (GRCm39) missense probably damaging 0.98
R7620:Trp73 UTSW 4 154,143,714 (GRCm39) nonsense probably null
R8086:Trp73 UTSW 4 154,201,052 (GRCm39) missense unknown
R9034:Trp73 UTSW 4 154,152,088 (GRCm39) missense probably benign 0.00
R9647:Trp73 UTSW 4 154,165,788 (GRCm39) missense probably damaging 1.00
R9671:Trp73 UTSW 4 154,148,403 (GRCm39) missense probably benign 0.03
R9746:Trp73 UTSW 4 154,165,859 (GRCm39) missense probably damaging 0.99
Z1176:Trp73 UTSW 4 154,151,469 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02