Mutagenetix > Incidental Mutation

Incidental Mutation 'R0196:Trp53'

23452

Institutional Source

Beutler Lab

Gene Symbol

Trp53

Ensembl Gene

ENSMUSG00000059552

Gene Name

transformation related protein 53

Synonyms

p53, p44

MMRRC Submission

038455-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0196 (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 69479506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 202 (Y202C)

Ref Sequence

ENSEMBL: ENSMUSP00000127130 (fasta)

Gene Model

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

AlphaFold

P02340

Predicted Effect

probably damaging
Transcript: ENSMUST00000005371
AA Change: Y199C

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

SMART Domains

Protein: ENSMUSP00000005371
Gene: ENSMUSG00000059552
AA Change: Y199C

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: Y199C

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

SMART Domains

Protein: ENSMUSP00000104297
Gene: ENSMUSG00000059552
AA Change: Y199C

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: Y202C

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

SMART Domains

Protein: ENSMUSP00000104298
Gene: ENSMUSG00000059552
AA Change: Y202C

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: Y202C

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

SMART Domains

Protein: ENSMUSP00000127130
Gene: ENSMUSG00000059552
AA Change: Y202C

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: 98.8%
3x: 97.7%
10x: 93.8%
20x: 81.8%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	G	2: 68,446,591 (GRCm39)		probably benign	Het
Aass	G	A	6: 23,109,519 (GRCm39)	P317L	probably damaging	Het
Abca12	T	A	1: 71,298,972 (GRCm39)	N2313I	possibly damaging	Het
Adamts12	T	C	15: 11,071,594 (GRCm39)	I46T	probably benign	Het
Adipoq	T	G	16: 22,965,393 (GRCm39)		probably null	Het
Amy1	A	T	3: 113,363,070 (GRCm39)	D92E	probably benign	Het
Asb15	G	A	6: 24,564,392 (GRCm39)	R282Q	probably damaging	Het
Bag6	G	C	17: 35,363,239 (GRCm39)	G693A	probably damaging	Het
Birc6	T	C	17: 74,887,282 (GRCm39)	I870T	possibly damaging	Het
Cand2	A	G	6: 115,766,463 (GRCm39)	K356R	probably damaging	Het
Cbfa2t3	T	C	8: 123,360,076 (GRCm39)	Q525R	possibly damaging	Het
Cd4	T	C	6: 124,844,769 (GRCm39)	R339G	probably damaging	Het
Cdh8	A	G	8: 99,917,066 (GRCm39)	S350P	probably damaging	Het
Cep295	A	T	9: 15,249,509 (GRCm39)	S469T	probably damaging	Het
Ckap2l	A	T	2: 129,127,342 (GRCm39)	S279T	probably benign	Het
Clnk	T	A	5: 38,927,282 (GRCm39)	N66Y	probably damaging	Het
Col27a1	A	T	4: 63,142,503 (GRCm39)	T64S	probably benign	Het
Crtc1	T	C	8: 70,838,871 (GRCm39)	D599G	probably damaging	Het
Cyp2c23	A	C	19: 44,000,795 (GRCm39)	I363S	probably damaging	Het
Dnah10	A	T	5: 124,911,139 (GRCm39)	I4519F	possibly damaging	Het
Dner	T	A	1: 84,348,553 (GRCm39)	I716F	probably damaging	Het
Dsel	T	G	1: 111,789,333 (GRCm39)	T401P	possibly damaging	Het
Egfr	A	G	11: 16,861,746 (GRCm39)	D1175G	probably benign	Het
Ephb3	A	T	16: 21,036,804 (GRCm39)	N343I	probably damaging	Het
Fbxw10	T	A	11: 62,768,070 (GRCm39)	F974I	probably benign	Het
Gfi1b	T	C	2: 28,503,786 (GRCm39)	Y138C	probably damaging	Het
Gm11168	T	A	9: 3,005,175 (GRCm39)	L6H	probably benign	Het
Grb10	A	C	11: 11,895,583 (GRCm39)	V247G	probably damaging	Het
Gstp2	A	T	19: 4,090,514 (GRCm39)		probably null	Het
Hars2	C	T	18: 36,922,257 (GRCm39)	Q291*	probably null	Het
Hyal4	G	T	6: 24,756,220 (GRCm39)	W146L	probably damaging	Het
Il22ra1	C	T	4: 135,461,556 (GRCm39)	T107I	possibly damaging	Het
Itga8	A	G	2: 12,209,540 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,515,450 (GRCm39)	S119P	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lrrc8c	T	C	5: 105,754,636 (GRCm39)	V137A	probably benign	Het
Macrod2	A	T	2: 142,018,545 (GRCm39)	E226V	probably damaging	Het
Mcemp1	A	T	8: 3,718,201 (GRCm39)	Q165L	probably benign	Het
Mcpt9	T	A	14: 56,265,453 (GRCm39)	K82M	probably benign	Het
Mpzl3	A	G	9: 44,973,458 (GRCm39)	T66A	probably damaging	Het
Msh6	G	A	17: 88,287,788 (GRCm39)	V143I	possibly damaging	Het
Mug1	G	A	6: 121,815,684 (GRCm39)		probably null	Het
Ncr1	G	T	7: 4,343,972 (GRCm39)	C153F	probably damaging	Het
Nf1	T	A	11: 79,359,595 (GRCm39)	M1411K	possibly damaging	Het
Nf1	T	A	11: 79,469,098 (GRCm39)	V786D	probably damaging	Het
Nisch	T	C	14: 30,925,351 (GRCm39)		probably benign	Het
Nwd2	T	A	5: 63,963,694 (GRCm39)	Y1093N	probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Or1e32	A	T	11: 73,705,731 (GRCm39)	M59K	probably damaging	Het
Or7a36	C	T	10: 78,820,023 (GRCm39)	T133I	possibly damaging	Het
Oxa1l	T	C	14: 54,600,944 (GRCm39)	I139T	probably damaging	Het
P3h3	T	A	6: 124,822,235 (GRCm39)	N583Y	probably damaging	Het
Pcdh18	A	T	3: 49,711,147 (GRCm39)		probably null	Het
Pcnp	C	T	16: 55,844,896 (GRCm39)		probably benign	Het
Pdzd8	G	T	19: 59,289,563 (GRCm39)	D612E	probably benign	Het
Pi4kb	T	C	3: 94,906,261 (GRCm39)	S8P	probably damaging	Het
Pikfyve	T	G	1: 65,295,231 (GRCm39)	V1454G	possibly damaging	Het
Podn	T	C	4: 107,878,695 (GRCm39)	N246D	probably damaging	Het
Prg4	T	C	1: 150,330,243 (GRCm39)		probably benign	Het
R3hdm2	T	C	10: 127,320,390 (GRCm39)	Y523H	probably damaging	Het
Rpf1	T	A	3: 146,213,904 (GRCm39)	E231V	possibly damaging	Het
Slc16a10	C	T	10: 39,932,611 (GRCm39)	E317K	probably benign	Het
Slc34a1	A	T	13: 55,560,078 (GRCm39)	I435F	probably damaging	Het
Snx19	A	G	9: 30,344,683 (GRCm39)	D629G	probably damaging	Het
Tomm70a	T	C	16: 56,966,463 (GRCm39)	I472T	probably benign	Het
Ttc14	T	A	3: 33,863,403 (GRCm39)		probably benign	Het
Ugt1a1	C	T	1: 88,140,277 (GRCm39)	A185V	possibly damaging	Het
Usp28	A	G	9: 48,939,578 (GRCm39)	D655G	probably damaging	Het
Vmn1r215	C	T	13: 23,260,254 (GRCm39)	T98I	probably damaging	Het
Vmn2r121	G	T	X: 123,041,879 (GRCm39)	T426N	probably benign	Het
Vmn2r99	A	G	17: 19,614,835 (GRCm39)	N852D	probably benign	Het
Xrn2	T	A	2: 146,889,580 (GRCm39)	D654E	probably damaging	Het
Yju2	C	A	17: 56,271,653 (GRCm39)	D191E	probably damaging	Het
Zfp335	C	G	2: 164,738,065 (GRCm39)	A849P	possibly damaging	Het
Zfp954	C	T	7: 7,118,390 (GRCm39)	V385M	probably damaging	Het
Zmynd15	A	G	11: 70,355,052 (GRCm39)	T350A	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
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
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'- AAGTCACAGCACATGACGGAGGTC -3'
(R):5'- CACTTGCTTAGCATGGGAGGGAAC -3'

Sequencing Primer
(F):5'- AGGTCGTGAGACGCTGC -3'
(R):5'- agcttgcacctctaagcc -3'

Posted On

2013-04-16