Incidental Mutation 'IGL02102:Mdm2'
| ID |
279791 |
| 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 # |
IGL02102
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
117524780-117546663 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 117528622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 227
(S227R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020408
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020408]
[ENSMUST00000105263]
[ENSMUST00000155285]
|
| AlphaFold |
P23804 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020408
AA Change: S227R
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020408
Gene: ENSMUSG00000020184
AA Change: S227R
| 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: S178R
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000100898
Gene: ENSMUSG00000020184
AA Change: S178R
| 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 |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
T |
C |
6: 92,754,420 (GRCm39) |
T1338A |
probably benign |
Het |
| Adcy3 |
G |
A |
12: 4,184,699 (GRCm39) |
C125Y |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,882,896 (GRCm39) |
K257N |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,039,407 (GRCm39) |
V497A |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,364,167 (GRCm39) |
V684D |
probably benign |
Het |
| AW551984 |
A |
G |
9: 39,500,987 (GRCm39) |
W763R |
probably damaging |
Het |
| Blm |
G |
A |
7: 80,119,504 (GRCm39) |
T1026M |
probably damaging |
Het |
| Cd160 |
A |
G |
3: 96,712,886 (GRCm39) |
I126T |
possibly damaging |
Het |
| Cdk14 |
T |
C |
5: 5,430,083 (GRCm39) |
K15E |
probably benign |
Het |
| Cnot6l |
T |
C |
5: 96,239,518 (GRCm39) |
K261R |
probably damaging |
Het |
| Cyp3a13 |
T |
G |
5: 137,909,865 (GRCm39) |
T153P |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,374,743 (GRCm39) |
|
probably benign |
Het |
| Dido1 |
G |
A |
2: 180,304,040 (GRCm39) |
T1288I |
possibly damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,106,208 (GRCm39) |
V322A |
possibly damaging |
Het |
| Dnajc25 |
T |
A |
4: 59,017,693 (GRCm39) |
Y117* |
probably null |
Het |
| Dsg1a |
A |
G |
18: 20,465,089 (GRCm39) |
N427D |
probably benign |
Het |
| Gabrq |
T |
G |
X: 71,871,151 (GRCm39) |
|
probably null |
Het |
| Glce |
A |
G |
9: 61,977,883 (GRCm39) |
|
probably benign |
Het |
| Gm10477 |
T |
C |
X: 55,570,761 (GRCm39) |
L45P |
probably damaging |
Het |
| Htt |
T |
A |
5: 35,048,825 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
A |
G |
17: 25,252,104 (GRCm39) |
E317G |
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,016,283 (GRCm39) |
M827T |
probably benign |
Het |
| Kalrn |
A |
G |
16: 34,040,592 (GRCm39) |
V932A |
probably damaging |
Het |
| Or14a259 |
T |
C |
7: 86,013,074 (GRCm39) |
Y157C |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,843,470 (GRCm39) |
|
probably benign |
Het |
| Or5ak25 |
A |
G |
2: 85,268,611 (GRCm39) |
V297A |
probably damaging |
Het |
| Or5g27 |
G |
A |
2: 85,410,017 (GRCm39) |
V145I |
probably damaging |
Het |
| Or5w22 |
T |
C |
2: 87,362,805 (GRCm39) |
F143L |
probably benign |
Het |
| Pdilt |
T |
G |
7: 119,086,173 (GRCm39) |
E514A |
probably benign |
Het |
| Pepd |
A |
G |
7: 34,645,028 (GRCm39) |
D153G |
probably damaging |
Het |
| Ptgis |
A |
T |
2: 167,067,367 (GRCm39) |
V70E |
probably damaging |
Het |
| Rnf112 |
T |
C |
11: 61,342,841 (GRCm39) |
K262E |
probably benign |
Het |
| Setd5 |
G |
T |
6: 113,127,946 (GRCm39) |
G1300* |
probably null |
Het |
| Snx15 |
A |
G |
19: 6,172,104 (GRCm39) |
L113P |
possibly damaging |
Het |
| Sptbn1 |
T |
C |
11: 30,087,427 (GRCm39) |
D1004G |
probably damaging |
Het |
| Ston2 |
A |
C |
12: 91,606,498 (GRCm39) |
*896G |
probably null |
Het |
| Suco |
A |
G |
1: 161,655,274 (GRCm39) |
S1073P |
probably damaging |
Het |
| Susd1 |
A |
C |
4: 59,369,636 (GRCm39) |
D344E |
possibly damaging |
Het |
| Trnt1 |
G |
T |
6: 106,755,073 (GRCm39) |
|
probably null |
Het |
| Ttll12 |
A |
G |
15: 83,466,264 (GRCm39) |
F399S |
probably damaging |
Het |
| Vmn1r124 |
C |
T |
7: 20,994,467 (GRCm39) |
V26I |
probably benign |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,189 (GRCm39) |
N164K |
possibly damaging |
Het |
| Vmn1r56 |
A |
T |
7: 5,199,335 (GRCm39) |
M94K |
possibly damaging |
Het |
| Vmn1r80 |
T |
C |
7: 11,927,618 (GRCm39) |
F243L |
probably damaging |
Het |
| Zdhhc8 |
G |
A |
16: 18,043,063 (GRCm39) |
S379F |
possibly damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation