Incidental Mutation 'R6051:Trp53'
ID 484105
Institutional Source Beutler Lab
Gene Symbol Trp53
Ensembl Gene ENSMUSG00000059552
Gene Name transformation related protein 53
Synonyms p53, p44
MMRRC Submission 044219-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6051 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 69471185-69482699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 69480434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 267 (R267H)
Ref Sequence ENSEMBL: ENSMUSP00000104297 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005371] [ENSMUST00000108657] [ENSMUST00000108658] [ENSMUST00000171247]
AlphaFold P02340
Predicted Effect possibly damaging
Transcript: ENSMUST00000005371
AA Change: R267H

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000005371
Gene: ENSMUSG00000059552
AA Change: R267H

DomainStartEndE-ValueType
Pfam:P53_TAD 5 28 1.3e-10 PFAM
low complexity region 69 86 N/A INTRINSIC
Pfam:P53 89 283 8.2e-108 PFAM
Pfam:P53_tetramer 312 353 4.4e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108657
AA Change: R267H

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104297
Gene: ENSMUSG00000059552
AA Change: R267H

DomainStartEndE-ValueType
Pfam:P53_TAD 5 28 6.1e-11 PFAM
low complexity region 69 86 N/A INTRINSIC
Pfam:P53 89 283 4.7e-108 PFAM
Pfam:P53_tetramer 312 353 1.9e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108658
AA Change: R270H

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104298
Gene: ENSMUSG00000059552
AA Change: R270H

DomainStartEndE-ValueType
Pfam:P53_TAD 8 31 1.4e-12 PFAM
low complexity region 72 89 N/A INTRINSIC
Pfam:P53 92 286 9.8e-113 PFAM
Pfam:P53_tetramer 316 355 5.8e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147512
Predicted Effect probably benign
Transcript: ENSMUST00000171247
AA Change: R270H

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000127130
Gene: ENSMUSG00000059552
AA Change: R270H

DomainStartEndE-ValueType
Pfam:P53_TAD 8 31 1.2e-10 PFAM
low complexity region 72 89 N/A INTRINSIC
Pfam:P53 92 286 7.9e-108 PFAM
Pfam:P53_tetramer 315 356 4.3e-21 PFAM
Meta Mutation Damage Score 0.7745 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes tumor protein p53, which responds to diverse cellular stresses to regulate target genes that induce cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. p53 protein is expressed at low level in normal cells and at a high level in a variety of transformed cell lines, where it's believed to contribute to transformation and malignancy. p53 is a DNA-binding protein containing transcription activation, DNA-binding, and oligomerization domains. It is postulated to bind to a p53-binding site and activate expression of downstream genes that inhibit growth and/or invasion, and thus function as a tumor suppressor. Mice deficient for this gene are developmentally normal but are susceptible to spontaneous tumors. Evidence to date shows that this gene contains one promoter, in contrast to alternative promoters of the human gene, and transcribes a few of splice variants which encode different isoforms, although the biological validity or the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this locus affect cell-cycle regulation and apoptosis. Null homozygotes show high, early-onset tumor incidence; some have persistent hyaloid vasculature and cataracts. Truncated or temperature-sensitive alleles cause early aging phenotypes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,231,304 (GRCm39) A1021S possibly damaging Het
Abl2 A G 1: 156,469,655 (GRCm39) D869G probably damaging Het
Adamts9 G A 6: 92,836,907 (GRCm39) A615V possibly damaging Het
Adamts9 A G 6: 92,867,099 (GRCm39) Y96H probably damaging Het
Arhgef37 A G 18: 61,640,345 (GRCm39) I238T probably damaging Het
Atr T A 9: 95,790,422 (GRCm39) H1587Q possibly damaging Het
BB014433 T C 8: 15,092,179 (GRCm39) T225A possibly damaging Het
Bcas2 T C 3: 103,081,657 (GRCm39) Y87H possibly damaging Het
Brca1 C T 11: 101,415,072 (GRCm39) E160K probably damaging Het
Cd2ap T C 17: 43,107,219 (GRCm39) *638W probably null Het
Chd2 A T 7: 73,085,590 (GRCm39) D1681E probably benign Het
Cit C T 5: 115,984,464 (GRCm39) P12L probably benign Het
Cracdl G T 1: 37,663,306 (GRCm39) P864Q probably damaging Het
Crisp1 T C 17: 40,616,017 (GRCm39) Y120C possibly damaging Het
Cyp2c65 A G 19: 39,049,610 (GRCm39) D46G probably benign Het
Cyp2d34 A T 15: 82,500,971 (GRCm39) V387D probably damaging Het
E130311K13Rik T C 3: 63,823,062 (GRCm39) H194R probably benign Het
Egfr C A 11: 16,833,607 (GRCm39) T625N possibly damaging Het
Fat3 A G 9: 16,286,751 (GRCm39) V924A possibly damaging Het
Fgd6 T C 10: 93,973,427 (GRCm39) probably null Het
Galnt6 A T 15: 100,592,549 (GRCm39) C553S probably damaging Het
Gm5617 T C 9: 48,407,187 (GRCm39) L107P possibly damaging Het
Hectd1 G T 12: 51,800,887 (GRCm39) T2035N probably benign Het
Hp1bp3 A G 4: 137,961,615 (GRCm39) T154A possibly damaging Het
Il10rb A G 16: 91,218,752 (GRCm39) T262A probably benign Het
Kansl1l A T 1: 66,765,885 (GRCm39) N704K probably null Het
Kbtbd12 T C 6: 88,594,930 (GRCm39) D300G possibly damaging Het
Lama4 G A 10: 38,943,898 (GRCm39) A734T probably benign Het
Mllt6 G T 11: 97,571,569 (GRCm39) G1069* probably null Het
Mns1 T C 9: 72,356,735 (GRCm39) L302P probably damaging Het
Muc5ac T A 7: 141,365,594 (GRCm39) C2039S possibly damaging Het
Myof A G 19: 38,012,809 (GRCm39) L42P probably damaging Het
Ncoa3 T C 2: 165,900,685 (GRCm39) L868S probably damaging Het
Ndc80 C T 17: 71,824,573 (GRCm39) G212E probably benign Het
Ntn4 A G 10: 93,581,657 (GRCm39) H610R probably benign Het
Nufip2 T A 11: 77,582,742 (GRCm39) Y219N probably damaging Het
Or51m1 T C 7: 103,578,084 (GRCm39) F18S probably damaging Het
Pbxip1 T C 3: 89,350,477 (GRCm39) S41P probably benign Het
Phactr2 A T 10: 13,137,555 (GRCm39) C196S probably null Het
Ppp3ca T A 3: 136,581,883 (GRCm39) Y140N probably damaging Het
Ptprb C A 10: 116,176,995 (GRCm39) Y1260* probably null Het
Rap1a C T 3: 105,657,613 (GRCm39) R2H possibly damaging Het
Rbbp8 G A 18: 11,871,664 (GRCm39) V794I probably benign Het
Rbks T C 5: 31,809,163 (GRCm39) N200S probably damaging Het
Relch G T 1: 105,648,997 (GRCm39) G712V probably damaging Het
Rnf186 G T 4: 138,695,277 (GRCm39) K272N probably damaging Het
Rtl1 G A 12: 109,559,458 (GRCm39) P794S probably damaging Het
Tbc1d30 T A 10: 121,132,750 (GRCm39) I205F probably damaging Het
Tkt C T 14: 30,290,153 (GRCm39) P261S probably benign Het
Ttc14 T C 3: 33,863,073 (GRCm39) probably benign Het
Ttn A G 2: 76,737,805 (GRCm39) S4245P probably benign Het
Vmn1r75 A T 7: 11,614,978 (GRCm39) I237F probably damaging Het
Vmn2r57 T A 7: 41,097,896 (GRCm39) H57L probably benign Het
Wdr62 T C 7: 29,960,809 (GRCm39) N40S possibly damaging Het
Xcr1 A T 9: 123,685,181 (GRCm39) F194I probably benign Het
Zmiz1 T A 14: 25,572,494 (GRCm39) M1K probably null Het
Other mutations in Trp53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01471:Trp53 APN 11 69,479,349 (GRCm39) missense probably damaging 1.00
IGL02105:Trp53 APN 11 69,479,329 (GRCm39) missense probably damaging 1.00
R0112:Trp53 UTSW 11 69,479,505 (GRCm39) missense probably damaging 1.00
R0196:Trp53 UTSW 11 69,479,506 (GRCm39) missense probably damaging 1.00
R0512:Trp53 UTSW 11 69,479,509 (GRCm39) missense probably damaging 1.00
R1976:Trp53 UTSW 11 69,479,323 (GRCm39) missense probably damaging 1.00
R2070:Trp53 UTSW 11 69,480,458 (GRCm39) missense probably damaging 1.00
R2071:Trp53 UTSW 11 69,480,458 (GRCm39) missense probably damaging 1.00
R2988:Trp53 UTSW 11 69,479,332 (GRCm39) missense probably damaging 1.00
R4698:Trp53 UTSW 11 69,479,248 (GRCm39) nonsense probably null
R4776:Trp53 UTSW 11 69,477,747 (GRCm39) missense probably benign 0.05
R4838:Trp53 UTSW 11 69,478,456 (GRCm39) missense probably damaging 1.00
R5269:Trp53 UTSW 11 69,480,031 (GRCm39) missense probably damaging 1.00
R5360:Trp53 UTSW 11 69,479,566 (GRCm39) critical splice donor site probably null
R5399:Trp53 UTSW 11 69,479,372 (GRCm39) missense probably benign 0.19
R5420:Trp53 UTSW 11 69,479,146 (GRCm39) intron probably benign
R5982:Trp53 UTSW 11 69,478,244 (GRCm39) missense probably benign 0.06
R6305:Trp53 UTSW 11 69,479,533 (GRCm39) missense probably damaging 1.00
R6457:Trp53 UTSW 11 69,480,440 (GRCm39) missense probably damaging 1.00
R6947:Trp53 UTSW 11 69,479,307 (GRCm39) missense possibly damaging 0.93
R7278:Trp53 UTSW 11 69,482,081 (GRCm39) missense probably benign 0.00
R7339:Trp53 UTSW 11 69,480,015 (GRCm39) missense probably damaging 1.00
R7418:Trp53 UTSW 11 69,479,214 (GRCm39) missense probably damaging 1.00
R7899:Trp53 UTSW 11 69,481,519 (GRCm39) missense probably damaging 1.00
R8344:Trp53 UTSW 11 69,478,409 (GRCm39) missense probably damaging 1.00
R8796:Trp53 UTSW 11 69,480,434 (GRCm39) missense possibly damaging 0.93
R9197:Trp53 UTSW 11 69,480,000 (GRCm39) missense probably damaging 1.00
R9375:Trp53 UTSW 11 69,480,537 (GRCm39) critical splice donor site probably null
R9390:Trp53 UTSW 11 69,478,394 (GRCm39) missense probably benign 0.23
R9568:Trp53 UTSW 11 69,478,392 (GRCm39) nonsense probably null
Z1176:Trp53 UTSW 11 69,480,076 (GRCm39) missense probably null 0.94
Z1176:Trp53 UTSW 11 69,480,028 (GRCm39) missense probably damaging 1.00
Z1177:Trp53 UTSW 11 69,480,037 (GRCm39) missense probably damaging 0.99
Z1177:Trp53 UTSW 11 69,479,188 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- CCTGTAACTGGACCTTTGGC -3'
(R):5'- TCCAGCCTTGGTACCTTGAG -3'

Sequencing Primer
(F):5'- CCTTTGGCTGCAGATATGACAAG -3'
(R):5'- GGGTGAAATACTCTCCATCAAGTG -3'
Posted On 2017-07-14