Mutagenetix > Incidental Mutation

Incidental Mutation 'R0112:Trp53'

20527

Institutional Source

Beutler Lab

Gene Symbol

Trp53

Ensembl Gene

ENSMUSG00000059552

Gene Name

transformation related protein 53

Synonyms

p53, p44

MMRRC Submission

038398-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0112 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

69471185-69482699 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 69479505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 202 (Y202D)

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: Y199D

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

SMART Domains

Protein: ENSMUSP00000005371
Gene: ENSMUSG00000059552
AA Change: Y199D

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: Y199D

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

SMART Domains

Protein: ENSMUSP00000104297
Gene: ENSMUSG00000059552
AA Change: Y199D

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: Y202D

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

SMART Domains

Protein: ENSMUSP00000104298
Gene: ENSMUSG00000059552
AA Change: Y202D

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: Y202D

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

SMART Domains

Protein: ENSMUSP00000127130
Gene: ENSMUSG00000059552
AA Change: Y202D

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

0.9749

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (86/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,244,815 (GRCm39)	Y179F	probably benign	Het
Abcd4	A	G	12: 84,659,673 (GRCm39)		probably benign	Het
Abhd12b	C	T	12: 70,227,791 (GRCm39)	T191M	probably benign	Het
Adcy5	A	G	16: 34,976,548 (GRCm39)	E27G	possibly damaging	Het
Adgb	G	A	10: 10,282,902 (GRCm39)		probably benign	Het
Afdn	T	C	17: 14,104,899 (GRCm39)	S1186P	probably damaging	Het
Atf6b	G	T	17: 34,870,600 (GRCm39)	R351L	probably damaging	Het
Axin2	T	C	11: 108,830,223 (GRCm39)	S348P	possibly damaging	Het
Bfsp1	A	C	2: 143,669,563 (GRCm39)		probably null	Het
Brd1	A	G	15: 88,614,586 (GRCm39)	V103A	probably benign	Het
Ccdc13	C	A	9: 121,642,547 (GRCm39)	K392N	probably damaging	Het
Ccdc18	A	G	5: 108,321,627 (GRCm39)	K577R	probably damaging	Het
Csmd2	G	T	4: 128,389,822 (GRCm39)	G2186C	probably damaging	Het
Cyp2j5	A	T	4: 96,517,760 (GRCm39)	M484K	probably benign	Het
Defb3	T	A	8: 19,343,423 (GRCm39)	L12Q	probably null	Het
Defb7	G	T	8: 19,545,186 (GRCm39)		probably null	Het
Dhx35	T	A	2: 158,682,540 (GRCm39)	M491K	probably damaging	Het
Dnah17	T	C	11: 117,965,260 (GRCm39)	S2261G	possibly damaging	Het
Dnah5	A	C	15: 28,263,825 (GRCm39)	E853D	probably benign	Het
Dner	C	A	1: 84,560,774 (GRCm39)	A23S	probably benign	Het
Dock5	A	C	14: 68,057,090 (GRCm39)	S539A	probably benign	Het
Dsg2	T	A	18: 20,716,099 (GRCm39)	F317I	probably benign	Het
Enox1	A	T	14: 77,936,638 (GRCm39)	I539F	possibly damaging	Het
Eogt	G	A	6: 97,112,245 (GRCm39)		probably benign	Het
Fbxo22	A	G	9: 55,130,630 (GRCm39)	T300A	probably benign	Het
Fes	T	C	7: 80,033,753 (GRCm39)	D166G	probably damaging	Het
Fn1	A	G	1: 71,648,812 (GRCm39)	S1366P	probably damaging	Het
Fndc3a	A	T	14: 72,777,935 (GRCm39)		probably benign	Het
Foxh1	T	C	15: 76,553,210 (GRCm39)	H168R	probably benign	Het
Galnt14	T	G	17: 73,881,979 (GRCm39)		probably benign	Het
Gdf6	A	G	4: 9,844,482 (GRCm39)	D2G	probably damaging	Het
Gp6	C	A	7: 4,373,183 (GRCm39)	A247S	probably benign	Het
Gp6	G	C	7: 4,374,626 (GRCm39)	P232A	probably benign	Het
Grin2c	A	G	11: 115,141,960 (GRCm39)	Y820H	probably damaging	Het
Gtf2h4	T	C	17: 35,981,340 (GRCm39)	T198A	possibly damaging	Het
Helz	T	C	11: 107,563,774 (GRCm39)		probably benign	Het
Htr1d	A	G	4: 136,170,311 (GRCm39)	E180G	probably benign	Het
Igsf10	A	G	3: 59,233,429 (GRCm39)	V1768A	probably benign	Het
Ints10	A	T	8: 69,279,954 (GRCm39)	T694S	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lipc	T	A	9: 70,727,709 (GRCm39)	Y131F	probably damaging	Het
Litaf	G	T	16: 10,784,375 (GRCm39)	T45K	probably damaging	Het
Lmo7	A	T	14: 102,124,629 (GRCm39)	R363*	probably null	Het
Lrrc37a	A	T	11: 103,391,739 (GRCm39)	Y1229N	probably benign	Het
Man2a2	C	T	7: 80,008,024 (GRCm39)	A943T	probably damaging	Het
Mtor	A	G	4: 148,565,380 (GRCm39)	Y1030C	probably damaging	Het
Naalad2	G	T	9: 18,262,743 (GRCm39)	Y384*	probably null	Het
Nat2	C	T	8: 67,954,378 (GRCm39)	Q163*	probably null	Het
Nell2	A	G	15: 95,329,562 (GRCm39)		probably benign	Het
Nphp3	C	T	9: 103,914,547 (GRCm39)	H102Y	possibly damaging	Het
Olr1	T	C	6: 129,465,869 (GRCm39)	S46G	possibly damaging	Het
Or2y13	A	T	11: 49,414,961 (GRCm39)	H137L	possibly damaging	Het
Or52x1	A	T	7: 104,852,866 (GRCm39)	M228K	probably benign	Het
Or5b94	C	T	19: 12,652,121 (GRCm39)	T184I	probably benign	Het
Parg	C	A	14: 31,924,390 (GRCm39)	A63E	probably damaging	Het
Pik3cg	A	G	12: 32,245,714 (GRCm39)		probably benign	Het
Ripk4	A	G	16: 97,544,761 (GRCm39)	C629R	probably benign	Het
Rnf145	A	G	11: 44,454,978 (GRCm39)	T620A	probably benign	Het
Rskr	T	C	11: 78,182,507 (GRCm39)		probably benign	Het
Samd9l	T	G	6: 3,376,031 (GRCm39)	D410A	possibly damaging	Het
Serpinb9f	A	T	13: 33,511,934 (GRCm39)		probably benign	Het
Slc19a1	T	C	10: 76,877,999 (GRCm39)	I178T	probably benign	Het
Slco1b2	A	T	6: 141,616,837 (GRCm39)	Y390F	probably benign	Het
Speg	A	G	1: 75,361,676 (GRCm39)	E230G	possibly damaging	Het
Tbc1d9	C	A	8: 83,991,466 (GRCm39)		probably benign	Het
Tmem131l	G	A	3: 83,847,894 (GRCm39)	Q324*	probably null	Het
Trf	A	G	9: 103,104,155 (GRCm39)		probably benign	Het
Trpv1	T	A	11: 73,144,098 (GRCm39)	M618K	probably damaging	Het
Trrap	C	A	5: 144,759,571 (GRCm39)	Y2250*	probably null	Het
Ttc3	A	G	16: 94,186,181 (GRCm39)		probably benign	Het
Ubtfl1	T	G	9: 18,321,083 (GRCm39)	S204A	probably benign	Het
Uck2	A	T	1: 167,055,340 (GRCm39)	Y203N	probably damaging	Het
Utrn	A	T	10: 12,562,209 (GRCm39)	L1280*	probably null	Het
Vmn1r178	A	T	7: 23,593,609 (GRCm39)	H146L	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r108	T	C	17: 20,691,897 (GRCm39)	M209V	probably benign	Het
Vmn2r9	G	A	5: 108,990,991 (GRCm39)	T790I	probably damaging	Het
Vmn2r94	C	A	17: 18,463,866 (GRCm39)	R808L	probably benign	Het
Zbtb7c	A	T	18: 76,269,962 (GRCm39)	S17C	probably damaging	Het
Zfp811	C	T	17: 33,016,738 (GRCm39)	R434Q	probably damaging	Het
Zkscan6	A	T	11: 65,705,689 (GRCm39)		probably benign	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
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
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

2013-04-11