Mutagenetix > Incidental Mutation

Incidental Mutation 'R2070:Trp53'

227067

Institutional Source

Beutler Lab

Gene Symbol

Trp53

Ensembl Gene

ENSMUSG00000059552

Gene Name

transformation related protein 53

Synonyms

p53, p44

MMRRC Submission

040075-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2070 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69471185-69482699 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69480458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 278 (D278G)

Ref Sequence

ENSEMBL: ENSMUSP00000104298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005371] [ENSMUST00000108657] [ENSMUST00000108658] [ENSMUST00000171247]

AlphaFold

P02340

Predicted Effect

probably damaging
Transcript: ENSMUST00000005371
AA Change: D275G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005371
Gene: ENSMUSG00000059552
AA Change: D275G

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 damaging
Transcript: ENSMUST00000108657
AA Change: D275G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104297
Gene: ENSMUSG00000059552
AA Change: D275G

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 damaging
Transcript: ENSMUST00000108658
AA Change: D278G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104298
Gene: ENSMUSG00000059552
AA Change: D278G

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

noncoding transcript
Transcript: ENSMUST00000130540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147512

Predicted Effect

probably damaging
Transcript: ENSMUST00000171247
AA Change: D278G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127130
Gene: ENSMUSG00000059552
AA Change: D278G

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	G	11: 58,767,595 (GRCm39)	K31E	probably damaging	Het
Abcc10	G	C	17: 46,614,491 (GRCm39)	N1477K	probably benign	Het
Ablim2	G	A	5: 35,955,857 (GRCm39)	C24Y	probably damaging	Het
Ankle1	T	C	8: 71,861,988 (GRCm39)	F497S	probably damaging	Het
Armh3	G	T	19: 45,879,724 (GRCm39)	P543Q	probably damaging	Het
Ash1l	C	G	3: 88,873,510 (GRCm39)	P98A	probably damaging	Het
Atad5	A	T	11: 79,988,878 (GRCm39)		probably null	Het
B3gnt4	A	T	5: 123,649,433 (GRCm39)	H266L	probably benign	Het
Bmi1	A	G	2: 18,688,851 (GRCm39)	I207V	probably benign	Het
Bnip3l	A	G	14: 67,226,671 (GRCm39)	M174T	probably damaging	Het
Bora	T	C	14: 99,299,714 (GRCm39)	S229P	probably damaging	Het
Ccdc121	T	C	5: 31,644,727 (GRCm39)	V160A	possibly damaging	Het
Ccdc27	T	A	4: 154,126,270 (GRCm39)	N73I	unknown	Het
Cdc42bpg	T	A	19: 6,370,518 (GRCm39)	C1204S	probably damaging	Het
Cdsn	A	T	17: 35,865,591 (GRCm39)	D40V	probably damaging	Het
Cilp	T	A	9: 65,186,377 (GRCm39)	V824D	probably damaging	Het
Cmtr1	A	G	17: 29,913,757 (GRCm39)		probably null	Het
Cntnap1	A	G	11: 101,073,805 (GRCm39)	Y652C	probably damaging	Het
Col12a1	T	C	9: 79,554,978 (GRCm39)	I2033M	probably benign	Het
Cwh43	T	C	5: 73,578,860 (GRCm39)	L289P	probably damaging	Het
Ddhd1	T	C	14: 45,848,081 (GRCm39)	D529G	probably damaging	Het
Defb28	T	A	2: 152,362,064 (GRCm39)	S75T	probably benign	Het
Dennd2a	A	T	6: 39,442,053 (GRCm39)	V939D	probably damaging	Het
Dlg5	T	C	14: 24,186,703 (GRCm39)	R1866G	probably damaging	Het
Dsc1	C	T	18: 20,221,353 (GRCm39)		probably null	Het
Ecscr	T	G	18: 35,848,490 (GRCm39)	N184T	probably damaging	Het
Eif4ebp1	G	T	8: 27,763,372 (GRCm39)	R55L	probably damaging	Het
Eml1	G	T	12: 108,479,258 (GRCm39)	V344L	probably damaging	Het
Exoc2	G	T	13: 30,999,353 (GRCm39)	N901K	probably benign	Het
Fam161b	T	A	12: 84,403,202 (GRCm39)	I143F	probably benign	Het
Fam180a	A	G	6: 35,302,846 (GRCm39)	S2P	probably benign	Het
Fat3	T	A	9: 15,910,666 (GRCm39)	I1779F	probably benign	Het
Fat4	A	G	3: 39,064,804 (GRCm39)	K4920R	probably benign	Het
Fsip2	T	A	2: 82,806,699 (GRCm39)	V1006E	probably damaging	Het
Glcci1	A	G	6: 8,558,566 (GRCm39)	S30G	probably damaging	Het
Gm5414	A	T	15: 101,536,495 (GRCm39)	S43R	possibly damaging	Het
Hao1	T	C	2: 134,372,535 (GRCm39)	T158A	probably damaging	Het
Hic1	T	C	11: 75,059,885 (GRCm39)	H154R	possibly damaging	Het
Hmgxb3	T	C	18: 61,304,431 (GRCm39)	Y53C	probably damaging	Het
Ipmk	A	T	10: 71,208,579 (GRCm39)	K122*	probably null	Het
Jakmip2	T	C	18: 43,696,395 (GRCm39)	E518G	probably benign	Het
Kmt2e	A	G	5: 23,706,993 (GRCm39)	T1519A	probably benign	Het
Lfng	T	C	5: 140,598,350 (GRCm39)	I224T	possibly damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Map4k5	C	T	12: 69,863,111 (GRCm39)	V629I	probably damaging	Het
Med12l	A	G	3: 59,152,326 (GRCm39)	D1037G	probably damaging	Het
Morc1	C	T	16: 48,412,974 (GRCm39)	T705I	probably benign	Het
Mptx2	A	T	1: 173,102,145 (GRCm39)	Y181*	probably null	Het
Mrpl24	T	C	3: 87,830,374 (GRCm39)		probably null	Het
Myo5a	A	G	9: 75,089,266 (GRCm39)	E1132G	probably benign	Het
Nedd4l	T	G	18: 65,345,891 (GRCm39)	F814L	probably damaging	Het
Nmral1	T	A	16: 4,534,211 (GRCm39)	I77F	probably damaging	Het
Oit3	T	G	10: 59,266,835 (GRCm39)	I224L	probably benign	Het
Oxsm	A	G	14: 16,241,983 (GRCm38)	L262P	probably benign	Het
Pacs2	C	T	12: 113,024,731 (GRCm39)	T407I	probably damaging	Het
Pard6g	T	C	18: 80,160,940 (GRCm39)	I351T	probably benign	Het
Pdcl2	A	T	5: 76,472,838 (GRCm39)		probably null	Het
Pdzph1	T	C	17: 59,281,092 (GRCm39)	R397G	probably benign	Het
Phip	T	A	9: 82,757,352 (GRCm39)	I1607L	probably benign	Het
Plekhd1	C	A	12: 80,739,681 (GRCm39)	S10*	probably null	Het
Pramel24	T	G	4: 143,453,472 (GRCm39)	Y193*	probably null	Het
Prdm1	C	T	10: 44,317,408 (GRCm39)	D505N	possibly damaging	Het
Psmd13	T	C	7: 140,477,561 (GRCm39)	V320A	probably damaging	Het
Rbak	A	G	5: 143,162,339 (GRCm39)	L8P	probably damaging	Het
Rere	C	A	4: 150,699,047 (GRCm39)		probably benign	Het
Rint1	T	C	5: 24,015,927 (GRCm39)	S456P	possibly damaging	Het
Scn3a	T	C	2: 65,351,210 (GRCm39)	Q446R	possibly damaging	Het
Slitrk5	A	G	14: 111,917,621 (GRCm39)	Y415C	probably damaging	Het
Snrnp200	A	G	2: 127,054,323 (GRCm39)	E210G	possibly damaging	Het
Snrnp200	A	G	2: 127,079,803 (GRCm39)	T1891A	probably benign	Het
Sohlh2	A	G	3: 55,115,043 (GRCm39)	I343V	probably benign	Het
Spin1	T	C	13: 51,298,573 (GRCm39)		probably null	Het
St14	T	A	9: 31,002,669 (GRCm39)	I745F	probably damaging	Het
Sv2a	G	A	3: 96,101,191 (GRCm39)	A730T	possibly damaging	Het
Tars2	C	A	3: 95,654,950 (GRCm39)	G113C	probably damaging	Het
Tlcd3b	T	C	7: 126,419,012 (GRCm39)	L4P	probably benign	Het
Ubxn7	T	A	16: 32,191,287 (GRCm39)	C160S	possibly damaging	Het
Uty	T	C	Y: 1,169,193 (GRCm39)	E414G	probably benign	Het
Wrap73	T	A	4: 154,233,200 (GRCm39)	S125T	possibly damaging	Het
Wwc2	T	C	8: 48,321,356 (GRCm39)	D586G	unknown	Het
Zfp106	T	C	2: 120,354,010 (GRCm39)	H1490R	probably benign	Het
Zswim5	T	C	4: 116,837,109 (GRCm39)	V731A	probably benign	Het
Zyg11b	G	C	4: 108,108,016 (GRCm39)	N463K	possibly 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
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
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'- AACTGGACCTTTGGCTGCAG -3'
(R):5'- GGGTGAAATACTCTCCATCAAGTG -3'

Sequencing Primer
(F):5'- CCTTTGGCTGCAGATATGACAAG -3'
(R):5'- AGAGGCGCTTGTGCAGG -3'

Posted On

2014-09-17