Incidental Mutation 'R7278:Trp53'
ID 571567
Institutional Source Beutler Lab
Gene Symbol Trp53
Ensembl Gene ENSMUSG00000059552
Gene Name transformation related protein 53
Synonyms p44, p53
MMRRC Submission 045360-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7278 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 69580359-69591873 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69591255 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 365 (L365F)
Ref Sequence ENSEMBL: ENSMUSP00000127130 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005371] [ENSMUST00000108657] [ENSMUST00000108658] [ENSMUST00000171247]
AlphaFold P02340
Predicted Effect probably benign
Transcript: ENSMUST00000005371
SMART Domains Protein: ENSMUSP00000005371
Gene: ENSMUSG00000059552

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 probably benign
Transcript: ENSMUST00000108657
AA Change: L362F

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000104297
Gene: ENSMUSG00000059552
AA Change: L362F

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 probably benign
Transcript: ENSMUST00000108658
SMART Domains Protein: ENSMUSP00000104298
Gene: ENSMUSG00000059552

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 probably benign
Transcript: ENSMUST00000171247
AA Change: L365F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127130
Gene: ENSMUSG00000059552
AA Change: L365F

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 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (78/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 138,065,476 (GRCm38) L142P probably benign Het
Abca13 A T 11: 9,291,126 (GRCm38) R996S possibly damaging Het
Abcb6 A G 1: 75,174,373 (GRCm38) F558L possibly damaging Het
Acp7 T A 7: 28,630,882 (GRCm38) D2V unknown Het
Acvr1c T C 2: 58,284,936 (GRCm38) D280G probably damaging Het
Atp8a1 A G 5: 67,624,037 (GRCm38) S1124P Het
B4galnt1 A T 10: 127,167,788 (GRCm38) T207S probably benign Het
C2cd4d C A 3: 94,364,138 (GRCm38) T237N probably benign Het
C8b T C 4: 104,780,627 (GRCm38) C99R probably damaging Het
Ccnk C A 12: 108,193,705 (GRCm38) Q149K possibly damaging Het
Chfr A G 5: 110,140,360 (GRCm38) D47G probably benign Het
Chid1 A T 7: 141,529,488 (GRCm38) probably null Het
Cmya5 T A 13: 93,095,700 (GRCm38) E960V probably damaging Het
Col18a1 A G 10: 77,096,284 (GRCm38) S112P unknown Het
Cps1 G A 1: 67,170,921 (GRCm38) V637I probably damaging Het
Crispld1 A G 1: 17,752,878 (GRCm38) T390A probably benign Het
Cyp2c54 A T 19: 40,070,253 (GRCm38) L245* probably null Het
Ddr2 G T 1: 169,984,961 (GRCm38) T654K probably damaging Het
Dnah10 T C 5: 124,791,791 (GRCm38) probably null Het
Elavl4 C T 4: 110,211,425 (GRCm38) probably null Het
Emilin1 T C 5: 30,920,660 (GRCm38) V921A probably benign Het
Evpl T A 11: 116,223,113 (GRCm38) E1250D probably damaging Het
Fam228a C T 12: 4,732,790 (GRCm38) G101E probably benign Het
Fam92b T A 8: 120,168,603 (GRCm38) T187S possibly damaging Het
Gemin4 T C 11: 76,212,106 (GRCm38) T610A probably damaging Het
Glis1 T C 4: 107,435,683 (GRCm38) M1T probably null Het
Gm14399 C T 2: 175,130,459 (GRCm38) probably benign Het
Gorasp2 C T 2: 70,679,505 (GRCm38) T170I probably damaging Het
Gpr37 A G 6: 25,669,342 (GRCm38) V501A possibly damaging Het
Grik4 T A 9: 42,622,060 (GRCm38) Q388L probably benign Het
Hspg2 T A 4: 137,551,125 (GRCm38) D3035E probably damaging Het
Htr4 A T 18: 62,412,176 (GRCm38) N11Y probably benign Het
Itgb2l A G 16: 96,429,043 (GRCm38) S356P probably damaging Het
Klk1b22 A G 7: 44,114,749 (GRCm38) N34D probably benign Het
Lmcd1 A G 6: 112,310,539 (GRCm38) D62G possibly damaging Het
Lrp2 C T 2: 69,486,352 (GRCm38) G2095E probably damaging Het
Macf1 T A 4: 123,440,743 (GRCm38) E4407V possibly damaging Het
Mcm5 T C 8: 75,124,859 (GRCm38) F631L probably benign Het
Mov10l1 A G 15: 88,993,868 (GRCm38) S170G probably benign Het
Muc5b A T 7: 141,857,502 (GRCm38) D1395V unknown Het
Muc6 G A 7: 141,640,575 (GRCm38) T1395M probably benign Het
Myh15 A G 16: 49,091,105 (GRCm38) D300G probably damaging Het
Nat6 T C 9: 107,583,299 (GRCm38) L131P probably damaging Het
Ndst4 A G 3: 125,438,303 (GRCm38) T174A probably benign Het
Nek5 T A 8: 22,090,484 (GRCm38) N406I probably benign Het
Nr2c2 G A 6: 92,159,378 (GRCm38) V400I probably damaging Het
Olfr364-ps1 G T 2: 37,147,009 (GRCm38) V266L probably benign Het
Olfr365 T C 2: 37,202,080 (GRCm38) Y280H probably damaging Het
Olfr449 G A 6: 42,834,396 (GRCm38) probably null Het
Olfr554 T C 7: 102,640,983 (GRCm38) S246P probably damaging Het
Olfr612 A T 7: 103,538,728 (GRCm38) Y169N probably benign Het
Olfr787 T A 10: 129,462,751 (GRCm38) I25N probably damaging Het
Parn T C 16: 13,626,063 (GRCm38) probably null Het
Pfkl T C 10: 77,992,023 (GRCm38) T468A probably damaging Het
Pi16 C A 17: 29,319,234 (GRCm38) P7Q possibly damaging Het
Plce1 T C 19: 38,779,896 (GRCm38) I2205T possibly damaging Het
Prss16 A T 13: 22,003,147 (GRCm38) N442K probably damaging Het
Pus7 A G 5: 23,752,344 (GRCm38) S370P probably damaging Het
Ripk3 G T 14: 55,787,284 (GRCm38) Y210* probably null Het
Rps6ka2 C A 17: 7,271,635 (GRCm38) F317L probably damaging Het
Slc13a3 G A 2: 165,445,528 (GRCm38) R169W possibly damaging Het
Slc6a21 T A 7: 45,282,480 (GRCm38) I256N possibly damaging Het
Slc6a9 G A 4: 117,868,106 (GRCm38) R589Q probably benign Het
Slc8a2 T C 7: 16,141,152 (GRCm38) S442P probably damaging Het
Snupn T A 9: 56,982,744 (GRCm38) M283K probably damaging Het
Steap3 A T 1: 120,234,357 (GRCm38) M395K probably damaging Het
Sv2b G A 7: 75,147,654 (GRCm38) P331S probably damaging Het
Tlr1 A G 5: 64,926,772 (GRCm38) V154A probably benign Het
Tmem131 A G 1: 36,796,301 (GRCm38) S1580P probably damaging Het
Tmem51 TCCCC TCCC 4: 142,037,685 (GRCm38) probably null Het
Trav14d-3-dv8 G A 14: 53,078,761 (GRCm38) R26H probably benign Het
Trp53bp1 A T 2: 121,199,035 (GRCm38) I1838N probably damaging Het
Ugt1a5 A T 1: 88,166,886 (GRCm38) K279* probably null Het
Unc80 A G 1: 66,552,209 (GRCm38) E1141G possibly damaging Het
Vti1b T C 12: 79,166,379 (GRCm38) D49G probably benign Het
Wnt10a A T 1: 74,793,482 (GRCm38) H78L possibly damaging Het
Zfp869 G A 8: 69,706,478 (GRCm38) H482Y probably damaging Het
Zfyve1 A G 12: 83,551,540 (GRCm38) V638A probably damaging Het
Other mutations in Trp53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01471:Trp53 APN 11 69,588,523 (GRCm38) missense probably damaging 1.00
IGL02105:Trp53 APN 11 69,588,503 (GRCm38) missense probably damaging 1.00
R0112:Trp53 UTSW 11 69,588,679 (GRCm38) missense probably damaging 1.00
R0196:Trp53 UTSW 11 69,588,680 (GRCm38) missense probably damaging 1.00
R0512:Trp53 UTSW 11 69,588,683 (GRCm38) missense probably damaging 1.00
R1976:Trp53 UTSW 11 69,588,497 (GRCm38) missense probably damaging 1.00
R2070:Trp53 UTSW 11 69,589,632 (GRCm38) missense probably damaging 1.00
R2071:Trp53 UTSW 11 69,589,632 (GRCm38) missense probably damaging 1.00
R2988:Trp53 UTSW 11 69,588,506 (GRCm38) missense probably damaging 1.00
R4698:Trp53 UTSW 11 69,588,422 (GRCm38) nonsense probably null
R4776:Trp53 UTSW 11 69,586,921 (GRCm38) missense probably benign 0.05
R4838:Trp53 UTSW 11 69,587,630 (GRCm38) missense probably damaging 1.00
R5269:Trp53 UTSW 11 69,589,205 (GRCm38) missense probably damaging 1.00
R5360:Trp53 UTSW 11 69,588,740 (GRCm38) critical splice donor site probably null
R5399:Trp53 UTSW 11 69,588,546 (GRCm38) missense probably benign 0.19
R5420:Trp53 UTSW 11 69,588,320 (GRCm38) intron probably benign
R5982:Trp53 UTSW 11 69,587,418 (GRCm38) missense probably benign 0.06
R6051:Trp53 UTSW 11 69,589,608 (GRCm38) missense possibly damaging 0.93
R6305:Trp53 UTSW 11 69,588,707 (GRCm38) missense probably damaging 1.00
R6457:Trp53 UTSW 11 69,589,614 (GRCm38) missense probably damaging 1.00
R6947:Trp53 UTSW 11 69,588,481 (GRCm38) missense possibly damaging 0.93
R7339:Trp53 UTSW 11 69,589,189 (GRCm38) missense probably damaging 1.00
R7418:Trp53 UTSW 11 69,588,388 (GRCm38) missense probably damaging 1.00
R7899:Trp53 UTSW 11 69,590,693 (GRCm38) missense probably damaging 1.00
R8344:Trp53 UTSW 11 69,587,583 (GRCm38) missense probably damaging 1.00
R8796:Trp53 UTSW 11 69,589,608 (GRCm38) missense possibly damaging 0.93
R9197:Trp53 UTSW 11 69,589,174 (GRCm38) missense probably damaging 1.00
R9375:Trp53 UTSW 11 69,589,711 (GRCm38) critical splice donor site probably null
R9390:Trp53 UTSW 11 69,587,568 (GRCm38) missense probably benign 0.23
R9568:Trp53 UTSW 11 69,587,566 (GRCm38) nonsense probably null
Z1176:Trp53 UTSW 11 69,589,250 (GRCm38) missense probably null 0.94
Z1176:Trp53 UTSW 11 69,589,202 (GRCm38) missense probably damaging 1.00
Z1177:Trp53 UTSW 11 69,589,211 (GRCm38) missense probably damaging 0.99
Z1177:Trp53 UTSW 11 69,588,362 (GRCm38) critical splice acceptor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-09-13