Incidental Mutation 'R5578:Mdm2'
| ID |
437310 |
| 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 |
043133-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5578 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
117524780-117546663 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 117538192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 69
(E69K)
|
| 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: E69K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000020408
Gene: ENSMUSG00000020184
AA Change: E69K
| 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: E20K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000100898
Gene: ENSMUSG00000020184
AA Change: E20K
| 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: E69K
PolyPhen 2
Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137039
Gene: ENSMUSG00000020184
AA Change: E69K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIB
|
27 |
102 |
3.1e-22 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
G |
16: 30,926,932 (GRCm39) |
S521P |
probably benign |
Het |
| Aqp11 |
A |
G |
7: 97,386,665 (GRCm39) |
F177S |
probably damaging |
Het |
| Arhgap40 |
G |
T |
2: 158,373,126 (GRCm39) |
G128V |
probably damaging |
Het |
| Aspm |
A |
T |
1: 139,398,455 (GRCm39) |
K1011I |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,722,203 (GRCm39) |
T89A |
probably benign |
Het |
| Cep89 |
ACTCCTCCTCCTCCTCCTCCTCCTC |
ACTCCTCCTCCTCCTCCTCCTC |
7: 35,109,067 (GRCm39) |
|
probably benign |
Het |
| Cfhr2 |
A |
T |
1: 139,758,806 (GRCm39) |
C81* |
probably null |
Het |
| Chd7 |
A |
G |
4: 8,847,149 (GRCm39) |
T1631A |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,638,196 (GRCm39) |
D22V |
probably benign |
Het |
| Csnk2a1-ps3 |
A |
G |
1: 156,352,800 (GRCm39) |
M334V |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp39a1 |
T |
A |
17: 43,991,031 (GRCm39) |
N113K |
possibly damaging |
Het |
| Dnah11 |
A |
T |
12: 117,982,537 (GRCm39) |
V2544D |
probably damaging |
Het |
| Dnai3 |
A |
T |
3: 145,802,983 (GRCm39) |
Y69* |
probably null |
Het |
| Esr1 |
A |
C |
10: 4,919,164 (GRCm39) |
Q418P |
probably damaging |
Het |
| Fam89a |
T |
A |
8: 125,467,968 (GRCm39) |
K115* |
probably null |
Het |
| Fstl4 |
T |
A |
11: 53,056,608 (GRCm39) |
V455D |
probably damaging |
Het |
| Gm20730 |
T |
A |
6: 43,058,474 (GRCm39) |
M113L |
probably benign |
Het |
| H2ac21 |
T |
C |
3: 96,127,554 (GRCm39) |
V108A |
probably damaging |
Het |
| Hk3 |
C |
T |
13: 55,159,994 (GRCm39) |
V327M |
probably damaging |
Het |
| Itm2c |
T |
A |
1: 85,830,774 (GRCm39) |
V57E |
possibly damaging |
Het |
| Lrba |
T |
C |
3: 86,664,814 (GRCm39) |
Y565H |
probably benign |
Het |
| Mab21l1 |
C |
T |
3: 55,691,435 (GRCm39) |
Q341* |
probably null |
Het |
| Mdn1 |
A |
T |
4: 32,728,167 (GRCm39) |
I2709F |
probably benign |
Het |
| Mpp7 |
T |
C |
18: 7,355,101 (GRCm39) |
N442D |
probably benign |
Het |
| Ncoa3 |
A |
G |
2: 165,896,248 (GRCm39) |
I384V |
probably benign |
Het |
| Pm20d1 |
A |
G |
1: 131,743,760 (GRCm39) |
N475S |
probably benign |
Het |
| Rhpn2 |
A |
G |
7: 35,070,135 (GRCm39) |
D131G |
probably damaging |
Het |
| S1pr5 |
T |
A |
9: 21,155,847 (GRCm39) |
Y193F |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 141,598,880 (GRCm39) |
K182* |
probably null |
Het |
| Slx4 |
T |
A |
16: 3,804,726 (GRCm39) |
E696V |
probably damaging |
Het |
| Smyd4 |
C |
T |
11: 75,295,602 (GRCm39) |
P753S |
probably benign |
Het |
| Stambp |
T |
G |
6: 83,538,782 (GRCm39) |
D206A |
probably benign |
Het |
| Sult5a1 |
G |
T |
8: 123,869,860 (GRCm39) |
Y262* |
probably null |
Het |
| Taar1 |
A |
T |
10: 23,796,718 (GRCm39) |
I139F |
possibly damaging |
Het |
| Tchh |
A |
T |
3: 93,351,618 (GRCm39) |
R353* |
probably null |
Het |
| Thnsl2 |
C |
T |
6: 71,115,749 (GRCm39) |
V153I |
probably benign |
Het |
| Trmt5 |
C |
T |
12: 73,331,837 (GRCm39) |
|
probably null |
Het |
| Trpa1 |
T |
A |
1: 14,957,232 (GRCm39) |
Y728F |
probably damaging |
Het |
| Usp19 |
T |
C |
9: 108,370,639 (GRCm39) |
V126A |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,839,622 (GRCm39) |
V1974A |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,829,514 (GRCm39) |
H461L |
probably benign |
Het |
| Zfp445 |
T |
C |
9: 122,682,402 (GRCm39) |
Y513C |
probably benign |
Het |
| Zfp84 |
A |
C |
7: 29,474,856 (GRCm39) |
M43L |
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 |
|
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 |
|
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'- GCCCAGCTGGTACTTCTTTAAG -3'
(R):5'- GCTTCTACAATACAACTGTTTGGTC -3'
Sequencing Primer
(F):5'- GTACCAACAGTTGTAAGCTGCCATG -3'
(R):5'- ACAACTGTTTGGTCTTGTACATG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation