Incidental Mutation 'IGL00659:Mdm2'
| ID |
12725 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mdm2
|
| Ensembl Gene |
ENSMUSG00000020184 |
| Gene Name |
transformed mouse 3T3 cell double minute 2 |
| Synonyms |
Mdm-2, 1700007J15Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00659
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
117524780-117546663 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117538204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 65
(R65G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020408]
[ENSMUST00000105263]
[ENSMUST00000155285]
|
| AlphaFold |
P23804 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020408
AA Change: R65G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000020408
Gene: ENSMUSG00000020184
AA Change: R65G
| 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: R16G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000100898
Gene: ENSMUSG00000020184
AA Change: R16G
| 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: ENSMUST00000132277
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137102
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147823
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155285
AA Change: R65G
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137039
Gene: ENSMUSG00000020184
AA Change: R65G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIB
|
27 |
102 |
3.1e-22 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap4e1 |
T |
C |
2: 126,905,221 (GRCm39) |
V964A |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,967,648 (GRCm39) |
V4197E |
probably damaging |
Het |
| C8b |
T |
A |
4: 104,658,531 (GRCm39) |
|
probably benign |
Het |
| Cdh13 |
A |
G |
8: 120,039,406 (GRCm39) |
D616G |
probably damaging |
Het |
| Cfi |
A |
G |
3: 129,630,462 (GRCm39) |
K2E |
unknown |
Het |
| Chek1 |
C |
A |
9: 36,633,895 (GRCm39) |
|
probably null |
Het |
| Chst11 |
T |
G |
10: 83,027,639 (GRCm39) |
|
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,103,169 (GRCm39) |
|
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,406,852 (GRCm39) |
S1049P |
probably damaging |
Het |
| Fkbp15 |
T |
C |
4: 62,251,917 (GRCm39) |
|
probably benign |
Het |
| Fxr2 |
C |
A |
11: 69,531,076 (GRCm39) |
Q51K |
probably benign |
Het |
| Kpna7 |
T |
A |
5: 144,944,056 (GRCm39) |
I50F |
probably damaging |
Het |
| N4bp1 |
G |
T |
8: 87,588,430 (GRCm39) |
D169E |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,257,050 (GRCm39) |
I134V |
probably benign |
Het |
| Plrg1 |
T |
A |
3: 82,977,980 (GRCm39) |
S400T |
probably damaging |
Het |
| Polr1b |
T |
C |
2: 128,960,020 (GRCm39) |
|
probably null |
Het |
| Sec23b |
T |
C |
2: 144,425,690 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
C |
T |
4: 139,148,556 (GRCm39) |
T1680I |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,965,281 (GRCm39) |
N375D |
probably benign |
Het |
| Wrn |
A |
G |
8: 33,812,405 (GRCm39) |
|
probably benign |
Het |
| Zfp422 |
G |
A |
6: 116,603,466 (GRCm39) |
Q178* |
probably null |
Het |
| Zfp938 |
T |
A |
10: 82,063,355 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mdm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R5111:Mdm2
|
UTSW |
10 |
117,527,126 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation