Mutagenetix > Incidental Mutation

Incidental Mutation 'R7278:Trp53'

571567

Institutional Source

Beutler Lab

Gene Symbol

Trp53

Ensembl Gene

ENSMUSG00000059552

Gene Name

transformation related protein 53

Synonyms

p53, p44

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

Chromosomal Location

69471185-69482699 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69482081 bp (GRCm39)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,771,237 (GRCm39)	L142P	probably benign	Het
Abca13	A	T	11: 9,241,126 (GRCm39)	R996S	possibly damaging	Het
Abcb6	A	G	1: 75,151,017 (GRCm39)	F558L	possibly damaging	Het
Acp7	T	A	7: 28,330,307 (GRCm39)	D2V	unknown	Het
Acvr1c	T	C	2: 58,174,948 (GRCm39)	D280G	probably damaging	Het
Atp8a1	A	G	5: 67,781,380 (GRCm39)	S1124P		Het
B4galnt1	A	T	10: 127,003,657 (GRCm39)	T207S	probably benign	Het
C2cd4d	C	A	3: 94,271,445 (GRCm39)	T237N	probably benign	Het
C8b	T	C	4: 104,637,824 (GRCm39)	C99R	probably damaging	Het
Ccnk	C	A	12: 108,159,964 (GRCm39)	Q149K	possibly damaging	Het
Chfr	A	G	5: 110,288,226 (GRCm39)	D47G	probably benign	Het
Chid1	A	T	7: 141,109,401 (GRCm39)		probably null	Het
Cibar2	T	A	8: 120,895,342 (GRCm39)	T187S	possibly damaging	Het
Cmya5	T	A	13: 93,232,208 (GRCm39)	E960V	probably damaging	Het
Col18a1	A	G	10: 76,932,118 (GRCm39)	S112P	unknown	Het
Cps1	G	A	1: 67,210,080 (GRCm39)	V637I	probably damaging	Het
Crispld1	A	G	1: 17,823,102 (GRCm39)	T390A	probably benign	Het
Cyp2c54	A	T	19: 40,058,697 (GRCm39)	L245*	probably null	Het
Ddr2	G	T	1: 169,812,530 (GRCm39)	T654K	probably damaging	Het
Dnah10	T	C	5: 124,868,855 (GRCm39)		probably null	Het
Elavl4	C	T	4: 110,068,622 (GRCm39)		probably null	Het
Emilin1	T	C	5: 31,078,004 (GRCm39)	V921A	probably benign	Het
Evpl	T	A	11: 116,113,939 (GRCm39)	E1250D	probably damaging	Het
Fam228a	C	T	12: 4,782,790 (GRCm39)	G101E	probably benign	Het
Gemin4	T	C	11: 76,102,932 (GRCm39)	T610A	probably damaging	Het
Glis1	T	C	4: 107,292,880 (GRCm39)	M1T	probably null	Het
Gm14399	C	T	2: 174,972,252 (GRCm39)		probably benign	Het
Gorasp2	C	T	2: 70,509,849 (GRCm39)	T170I	probably damaging	Het
Gpr37	A	G	6: 25,669,341 (GRCm39)	V501A	possibly damaging	Het
Grik4	T	A	9: 42,533,356 (GRCm39)	Q388L	probably benign	Het
Hspg2	T	A	4: 137,278,436 (GRCm39)	D3035E	probably damaging	Het
Htr4	A	T	18: 62,545,247 (GRCm39)	N11Y	probably benign	Het
Itgb2l	A	G	16: 96,230,243 (GRCm39)	S356P	probably damaging	Het
Klk1b22	A	G	7: 43,764,173 (GRCm39)	N34D	probably benign	Het
Lmcd1	A	G	6: 112,287,500 (GRCm39)	D62G	possibly damaging	Het
Lrp2	C	T	2: 69,316,696 (GRCm39)	G2095E	probably damaging	Het
Macf1	T	A	4: 123,334,536 (GRCm39)	E4407V	possibly damaging	Het
Mcm5	T	C	8: 75,851,487 (GRCm39)	F631L	probably benign	Het
Mov10l1	A	G	15: 88,878,071 (GRCm39)	S170G	probably benign	Het
Muc5b	A	T	7: 141,411,239 (GRCm39)	D1395V	unknown	Het
Muc6	G	A	7: 141,226,842 (GRCm39)	T1395M	probably benign	Het
Myh15	A	G	16: 48,911,468 (GRCm39)	D300G	probably damaging	Het
Naa80	T	C	9: 107,460,498 (GRCm39)	L131P	probably damaging	Het
Ndst4	A	G	3: 125,231,952 (GRCm39)	T174A	probably benign	Het
Nek5	T	A	8: 22,580,500 (GRCm39)	N406I	probably benign	Het
Nr2c2	G	A	6: 92,136,359 (GRCm39)	V400I	probably damaging	Het
Or1l4	T	C	2: 37,092,092 (GRCm39)	Y280H	probably damaging	Het
Or1l4b	G	T	2: 37,037,021 (GRCm39)	V266L	probably benign	Het
Or51aa2	A	T	7: 103,187,935 (GRCm39)	Y169N	probably benign	Het
Or52m1	T	C	7: 102,290,190 (GRCm39)	S246P	probably damaging	Het
Or6b1	G	A	6: 42,811,330 (GRCm39)		probably null	Het
Or6c5c	T	A	10: 129,298,620 (GRCm39)	I25N	probably damaging	Het
Parn	T	C	16: 13,443,927 (GRCm39)		probably null	Het
Pfkl	T	C	10: 77,827,857 (GRCm39)	T468A	probably damaging	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Plce1	T	C	19: 38,768,340 (GRCm39)	I2205T	possibly damaging	Het
Prss16	A	T	13: 22,187,317 (GRCm39)	N442K	probably damaging	Het
Pus7	A	G	5: 23,957,342 (GRCm39)	S370P	probably damaging	Het
Ripk3	G	T	14: 56,024,741 (GRCm39)	Y210*	probably null	Het
Rps6ka2	C	A	17: 7,539,034 (GRCm39)	F317L	probably damaging	Het
Slc13a3	G	A	2: 165,287,448 (GRCm39)	R169W	possibly damaging	Het
Slc6a21	T	A	7: 44,931,904 (GRCm39)	I256N	possibly damaging	Het
Slc6a9	G	A	4: 117,725,303 (GRCm39)	R589Q	probably benign	Het
Slc8a2	T	C	7: 15,875,077 (GRCm39)	S442P	probably damaging	Het
Snupn	T	A	9: 56,890,028 (GRCm39)	M283K	probably damaging	Het
Steap3	A	T	1: 120,162,087 (GRCm39)	M395K	probably damaging	Het
Sv2b	G	A	7: 74,797,402 (GRCm39)	P331S	probably damaging	Het
Tlr1	A	G	5: 65,084,115 (GRCm39)	V154A	probably benign	Het
Tmem131	A	G	1: 36,835,382 (GRCm39)	S1580P	probably damaging	Het
Tmem51	TCCCC	TCCC	4: 141,764,996 (GRCm39)		probably null	Het
Trav14d-3-dv8	G	A	14: 53,316,218 (GRCm39)	R26H	probably benign	Het
Trp53bp1	A	T	2: 121,029,516 (GRCm39)	I1838N	probably damaging	Het
Ugt1a5	A	T	1: 88,094,608 (GRCm39)	K279*	probably null	Het
Unc80	A	G	1: 66,591,368 (GRCm39)	E1141G	possibly damaging	Het
Vti1b	T	C	12: 79,213,153 (GRCm39)	D49G	probably benign	Het
Wnt10a	A	T	1: 74,832,641 (GRCm39)	H78L	possibly damaging	Het
Zfp869	G	A	8: 70,159,128 (GRCm39)	H482Y	probably damaging	Het
Zfyve1	A	G	12: 83,598,314 (GRCm39)	V638A	probably damaging	Het

Other mutations in Trp53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R6051:Trp53	UTSW	11	69,480,434 (GRCm39)	missense	possibly damaging	0.93
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
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'- CCTACGAGAACTGACTTCTTGAC -3'
(R):5'- AGTCAGGCCCCACTTTCTTG -3'

Sequencing Primer
(F):5'- ATAGCAAGACCCTGTCTCATGGTG -3'
(R):5'- GGCCCCACTTTCTTGACCATTG -3'

Posted On

2019-09-13