Incidental Mutation 'R6305:Trp53'
| ID |
509609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trp53
|
| Ensembl Gene |
ENSMUSG00000059552 |
| Gene Name |
transformation related protein 53 |
| Synonyms |
p53, p44 |
| MMRRC Submission |
044411-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6305 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69471185-69482699 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69479533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 211
(H211L)
|
| 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: H208L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005371
Gene: ENSMUSG00000059552
AA Change: H208L
| 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 |
possibly damaging
Transcript: ENSMUST00000108657
AA Change: H208L
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104297
Gene: ENSMUSG00000059552
AA Change: H208L
| 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: H211L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104298
Gene: ENSMUSG00000059552
AA Change: H211L
| 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: H211L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127130
Gene: ENSMUSG00000059552
AA Change: H211L
| 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 |
0.9263 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
97% (61/63) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,773,741 (GRCm39) |
S977P |
probably damaging |
Het |
| Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
| Adcy6 |
T |
A |
15: 98,496,526 (GRCm39) |
I550L |
probably benign |
Het |
| Agbl3 |
G |
A |
6: 34,759,145 (GRCm39) |
D19N |
unknown |
Het |
| Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
| Arhgap39 |
T |
A |
15: 76,621,902 (GRCm39) |
D233V |
probably benign |
Het |
| Bcl9 |
G |
A |
3: 97,113,254 (GRCm39) |
P1067L |
possibly damaging |
Het |
| Casd1 |
C |
T |
6: 4,641,892 (GRCm39) |
T723I |
probably damaging |
Het |
| Cd209g |
T |
A |
8: 4,186,809 (GRCm39) |
I118N |
probably benign |
Het |
| Cdh24 |
A |
T |
14: 54,869,813 (GRCm39) |
D701E |
possibly damaging |
Het |
| Chd9 |
C |
T |
8: 91,757,174 (GRCm39) |
P1858S |
possibly damaging |
Het |
| Csnk1g3 |
T |
A |
18: 54,065,384 (GRCm39) |
Y322* |
probably null |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,649 (GRCm39) |
R173H |
probably damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,069,668 (GRCm39) |
F909S |
probably damaging |
Het |
| Dll4 |
T |
A |
2: 119,161,138 (GRCm39) |
S299T |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dsg4 |
T |
A |
18: 20,582,847 (GRCm39) |
Y162N |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,517,780 (GRCm39) |
Y882C |
probably damaging |
Het |
| Fbxw7 |
T |
A |
3: 84,883,630 (GRCm39) |
N520K |
probably damaging |
Het |
| Galc |
C |
T |
12: 98,225,549 (GRCm39) |
A14T |
possibly damaging |
Het |
| Grm7 |
G |
A |
6: 111,335,626 (GRCm39) |
R679Q |
probably damaging |
Het |
| Hnrnpdl |
T |
C |
5: 100,186,517 (GRCm39) |
|
probably benign |
Het |
| Il12a |
A |
T |
3: 68,601,511 (GRCm39) |
K77N |
possibly damaging |
Het |
| Il17rd |
C |
T |
14: 26,817,899 (GRCm39) |
S196L |
possibly damaging |
Het |
| Kcnv2 |
T |
C |
19: 27,301,237 (GRCm39) |
F363L |
probably benign |
Het |
| Lair1 |
A |
G |
7: 4,013,727 (GRCm39) |
|
probably null |
Het |
| Lrit3 |
G |
A |
3: 129,594,109 (GRCm39) |
T156I |
probably damaging |
Het |
| Me2 |
T |
A |
18: 73,924,915 (GRCm39) |
R267S |
probably benign |
Het |
| Mga |
T |
C |
2: 119,778,179 (GRCm39) |
V1908A |
probably benign |
Het |
| Mylk3 |
T |
A |
8: 86,077,048 (GRCm39) |
I463F |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,141,775 (GRCm39) |
R75* |
probably null |
Het |
| Niban1 |
T |
C |
1: 151,571,469 (GRCm39) |
L248P |
probably damaging |
Het |
| Or10a3b |
C |
T |
7: 108,444,761 (GRCm39) |
G152D |
possibly damaging |
Het |
| Or1j11 |
T |
A |
2: 36,311,634 (GRCm39) |
S75T |
probably damaging |
Het |
| Or5p50 |
T |
G |
7: 107,421,864 (GRCm39) |
T271P |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or8b36 |
TG |
TGGTGTTGG |
9: 37,937,838 (GRCm39) |
|
probably null |
Het |
| Or8k33 |
A |
G |
2: 86,383,839 (GRCm39) |
S210P |
possibly damaging |
Het |
| Pfas |
A |
G |
11: 68,892,023 (GRCm39) |
S162P |
possibly damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,151,768 (GRCm39) |
V654E |
probably benign |
Het |
| Plxdc1 |
C |
A |
11: 97,829,416 (GRCm39) |
C318F |
probably damaging |
Het |
| Qrfprl |
A |
T |
6: 65,431,975 (GRCm39) |
M293L |
probably benign |
Het |
| Rbm8a2 |
T |
C |
1: 175,806,312 (GRCm39) |
D55G |
probably benign |
Het |
| Rexo5 |
A |
T |
7: 119,427,348 (GRCm39) |
K419N |
probably damaging |
Het |
| Septin4 |
C |
T |
11: 87,458,145 (GRCm39) |
T173M |
probably benign |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc24a4 |
C |
A |
12: 102,188,360 (GRCm39) |
T151K |
possibly damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,225,031 (GRCm39) |
I40F |
probably benign |
Het |
| Slc6a21 |
T |
C |
7: 44,930,028 (GRCm39) |
V172A |
possibly damaging |
Het |
| Thrap3 |
A |
G |
4: 126,074,600 (GRCm39) |
|
probably benign |
Het |
| Tm9sf3 |
A |
G |
19: 41,233,881 (GRCm39) |
|
probably null |
Het |
| Ttc21b |
A |
T |
2: 66,018,614 (GRCm39) |
N1264K |
probably damaging |
Het |
| Vmn1r120 |
A |
T |
7: 20,787,531 (GRCm39) |
V60E |
possibly damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,077,319 (GRCm39) |
E890G |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zfp934 |
T |
C |
13: 62,666,370 (GRCm39) |
Y102C |
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 |
|
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'- GATGGTGATGGTAAGCCCTCAAC -3'
(R):5'- TCTATTTCCCGCCTGGATGG -3'
Sequencing Primer
(F):5'- TGGTAAGCCCTCAACACCGC -3'
(R):5'- CTCCCAGAGACTGCTGTTAAAGTAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation