Incidental Mutation 'R5111:Mdm2'
| ID |
452831 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdm2
|
| Ensembl Gene |
ENSMUSG00000020184 |
| Gene Name |
transformed mouse 3T3 cell double minute 2 |
| Synonyms |
Mdm-2, 1700007J15Rik |
| MMRRC Submission |
042699-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5111 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
117524780-117546663 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 117527126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 273
(V273D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020399]
[ENSMUST00000020408]
[ENSMUST00000105263]
[ENSMUST00000155285]
|
| AlphaFold |
P23804 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020399
|
| SMART Domains |
Protein: ENSMUSP00000020399
Gene: ENSMUSG00000020183
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Zn_pept
|
22 |
406 |
2.03e-45 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020408
AA Change: V273D
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020408
Gene: ENSMUSG00000020184
AA Change: V273D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIB
|
26 |
101 |
1.3e-11 |
PFAM |
|
low complexity region
|
145 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
248 |
262 |
N/A |
INTRINSIC |
|
Pfam:zf-RanBP
|
297 |
326 |
1.7e-10 |
PFAM |
|
low complexity region
|
390 |
410 |
N/A |
INTRINSIC |
|
RING
|
436 |
476 |
2.42e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105263
AA Change: V224D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100898
Gene: ENSMUSG00000020184
AA Change: V224D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIB
|
1 |
53 |
5e-15 |
PFAM |
|
low complexity region
|
96 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
167 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
213 |
N/A |
INTRINSIC |
|
Pfam:zf-RanBP
|
248 |
277 |
5.7e-10 |
PFAM |
|
low complexity region
|
341 |
361 |
N/A |
INTRINSIC |
|
RING
|
387 |
427 |
2.42e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132277
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137102
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155285
|
| SMART Domains |
Protein: ENSMUSP00000137039
Gene: ENSMUSG00000020184
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIB
|
27 |
102 |
3.1e-22 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality. Mice homozygous for a null allele exhibit prenatal lethality. Mice homozygous for one knock-in allele exhibit embryonic lethality while mice homozygous for a different knock-in allele exhibit alters cell cycle regulation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17c |
A |
T |
7: 83,800,646 (GRCm39) |
L136* |
probably null |
Het |
| Ankrd17 |
A |
T |
5: 90,390,858 (GRCm39) |
S2271T |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,982,408 (GRCm39) |
D179G |
probably benign |
Het |
| Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
| Btbd3 |
T |
A |
2: 138,120,829 (GRCm39) |
M1K |
probably null |
Het |
| Capns1 |
A |
G |
7: 29,891,944 (GRCm39) |
V106A |
probably benign |
Het |
| Ccnjl |
A |
G |
11: 43,447,544 (GRCm39) |
T76A |
probably benign |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Col6a6 |
C |
T |
9: 105,586,673 (GRCm39) |
V1783I |
possibly damaging |
Het |
| Crisp3 |
T |
C |
17: 40,536,695 (GRCm39) |
T207A |
possibly damaging |
Het |
| Crxos |
G |
A |
7: 15,630,142 (GRCm39) |
|
probably benign |
Het |
| Csf3r |
T |
C |
4: 125,923,861 (GRCm39) |
|
probably null |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,046 (GRCm39) |
Y485C |
possibly damaging |
Het |
| Echdc2 |
A |
T |
4: 108,026,994 (GRCm39) |
|
probably benign |
Het |
| Elp3 |
A |
C |
14: 65,797,685 (GRCm39) |
Y329D |
probably damaging |
Het |
| Fbxw16 |
T |
C |
9: 109,265,796 (GRCm39) |
D341G |
probably benign |
Het |
| H2-Ab1 |
T |
A |
17: 34,486,456 (GRCm39) |
S172T |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,448,310 (GRCm39) |
V321A |
probably benign |
Het |
| Ighv6-3 |
A |
T |
12: 114,355,394 (GRCm39) |
S98R |
probably benign |
Het |
| Kank3 |
A |
G |
17: 34,037,155 (GRCm39) |
E153G |
possibly damaging |
Het |
| Klrb1c |
C |
T |
6: 128,762,968 (GRCm39) |
R83H |
probably benign |
Het |
| Krtap16-1 |
T |
C |
11: 99,877,378 (GRCm39) |
K9E |
possibly damaging |
Het |
| Liph |
G |
A |
16: 21,802,820 (GRCm39) |
S83F |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,798,872 (GRCm39) |
I261T |
possibly damaging |
Het |
| Mterf1a |
A |
G |
5: 3,941,860 (GRCm39) |
S3P |
probably benign |
Het |
| Myt1 |
A |
G |
2: 181,437,678 (GRCm39) |
T172A |
probably benign |
Het |
| Nufip2 |
T |
A |
11: 77,582,669 (GRCm39) |
S194R |
probably benign |
Het |
| Nusap1 |
T |
A |
2: 119,460,837 (GRCm39) |
L110* |
probably null |
Het |
| Palb2 |
A |
T |
7: 121,716,528 (GRCm39) |
C488* |
probably null |
Het |
| Pcdhac1 |
A |
T |
18: 37,224,558 (GRCm39) |
N457I |
probably damaging |
Het |
| Per1 |
A |
T |
11: 68,991,612 (GRCm39) |
S49C |
probably damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,443,558 (GRCm39) |
I535N |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,284,858 (GRCm39) |
|
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,601,728 (GRCm39) |
L744Q |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,113,600 (GRCm39) |
E1549G |
probably damaging |
Het |
| Tnr |
C |
T |
1: 159,713,798 (GRCm39) |
T742I |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,041,868 (GRCm39) |
H1229Q |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,567,154 (GRCm39) |
H920R |
possibly damaging |
Het |
| Urb1 |
A |
C |
16: 90,548,905 (GRCm39) |
S2268A |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,968,157 (GRCm39) |
Y169N |
possibly damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,485,913 (GRCm39) |
M527K |
possibly damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,546,326 (GRCm39) |
I733F |
probably damaging |
Het |
| Vstm2l |
A |
G |
2: 157,777,389 (GRCm39) |
D89G |
probably damaging |
Het |
| Zdhhc8 |
G |
T |
16: 18,044,612 (GRCm39) |
Q303K |
probably benign |
Het |
| Zfand2a |
A |
G |
5: 139,459,509 (GRCm39) |
V159A |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,865,170 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Mdm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00659:Mdm2
|
APN |
10 |
117,538,204 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02102:Mdm2
|
APN |
10 |
117,528,622 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Terracotta
|
UTSW |
10 |
117,538,235 (GRCm39) |
missense |
probably benign |
0.07 |
|
Xi-an
|
UTSW |
10 |
117,545,694 (GRCm39) |
splice site |
probably null |
|
|
PIT1430001:Mdm2
|
UTSW |
10 |
117,530,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0322:Mdm2
|
UTSW |
10 |
117,538,109 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1589:Mdm2
|
UTSW |
10 |
117,526,434 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1766:Mdm2
|
UTSW |
10 |
117,531,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:Mdm2
|
UTSW |
10 |
117,545,618 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4384:Mdm2
|
UTSW |
10 |
117,532,344 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4411:Mdm2
|
UTSW |
10 |
117,545,694 (GRCm39) |
splice site |
probably null |
|
|
R5509:Mdm2
|
UTSW |
10 |
117,526,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5578:Mdm2
|
UTSW |
10 |
117,538,192 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5727:Mdm2
|
UTSW |
10 |
117,538,212 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6382:Mdm2
|
UTSW |
10 |
117,528,626 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7506:Mdm2
|
UTSW |
10 |
117,526,596 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8363:Mdm2
|
UTSW |
10 |
117,526,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9044:Mdm2
|
UTSW |
10 |
117,530,960 (GRCm39) |
missense |
|
|
|
R9064:Mdm2
|
UTSW |
10 |
117,538,235 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9274:Mdm2
|
UTSW |
10 |
117,541,081 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GACCTATATGAAATAGTGACAGGCTAG -3'
(R):5'- CTAACAACTCTTGCCATTGCG -3'
Sequencing Primer
(F):5'- CAGGCTAGAGATGGCTCAGGTTC -3'
(R):5'- CCATTGCGAGTAAAGGTTTTCC -3'
|
| Posted On |
2017-01-11 |
Incidental Mutation