Incidental Mutation 'R5727:Mdm2'
| ID |
452561 |
| 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 |
043190-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5727 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
117524780-117546663 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117538212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 13
(M13T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020408]
[ENSMUST00000105263]
[ENSMUST00000155285]
|
| AlphaFold |
P23804 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020408
AA Change: M62T
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000020408
Gene: ENSMUSG00000020184
AA Change: M62T
| 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 |
possibly damaging
Transcript: ENSMUST00000105263
AA Change: M13T
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000100898
Gene: ENSMUSG00000020184
AA Change: M13T
| 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 |
probably benign
Transcript: ENSMUST00000155285
AA Change: M62T
PolyPhen 2
Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000137039
Gene: ENSMUSG00000020184
AA Change: M62T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIB
|
27 |
102 |
3.1e-22 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.1%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
C |
A |
14: 29,712,838 (GRCm39) |
L494M |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,994,111 (GRCm39) |
A5132S |
probably damaging |
Het |
| Cadps |
G |
A |
14: 12,486,525 (GRCm38) |
Q882* |
probably null |
Het |
| Cdhr2 |
G |
A |
13: 54,872,121 (GRCm39) |
V662M |
possibly damaging |
Het |
| Cdyl2 |
T |
A |
8: 117,309,907 (GRCm39) |
I350F |
probably damaging |
Het |
| Cfap44 |
T |
G |
16: 44,255,805 (GRCm39) |
F966V |
probably damaging |
Het |
| Cpxm1 |
G |
A |
2: 130,232,883 (GRCm39) |
R704* |
probably null |
Het |
| Dnah11 |
A |
T |
12: 118,090,841 (GRCm39) |
F1034L |
probably damaging |
Het |
| Dpep2 |
A |
G |
8: 106,713,075 (GRCm39) |
V440A |
probably benign |
Het |
| Ehmt2 |
A |
T |
17: 35,125,008 (GRCm39) |
M11L |
possibly damaging |
Het |
| Eml2 |
C |
T |
7: 18,924,685 (GRCm39) |
H185Y |
probably damaging |
Het |
| Gm10845 |
T |
A |
14: 80,100,770 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8122 |
T |
G |
14: 43,091,477 (GRCm39) |
N97T |
unknown |
Het |
| Gnb1 |
A |
G |
4: 155,639,559 (GRCm39) |
T263A |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Ier5l |
A |
G |
2: 30,363,171 (GRCm39) |
C285R |
possibly damaging |
Het |
| Kif21b |
A |
G |
1: 136,097,747 (GRCm39) |
N1336D |
probably damaging |
Het |
| Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
| Lama1 |
A |
G |
17: 68,122,219 (GRCm39) |
H2722R |
possibly damaging |
Het |
| Micall1 |
T |
A |
15: 79,014,678 (GRCm39) |
Y685N |
possibly damaging |
Het |
| Mthfd1l |
T |
G |
10: 4,053,302 (GRCm39) |
S884A |
possibly damaging |
Het |
| Nkiras2 |
A |
G |
11: 100,515,853 (GRCm39) |
Y60C |
probably damaging |
Het |
| Oc90 |
T |
G |
15: 65,753,388 (GRCm39) |
R342S |
possibly damaging |
Het |
| Or11h23 |
C |
A |
14: 50,947,817 (GRCm39) |
T10K |
possibly damaging |
Het |
| Or1j4 |
T |
C |
2: 36,740,544 (GRCm39) |
L162P |
possibly damaging |
Het |
| Or4k35 |
T |
A |
2: 111,100,197 (GRCm39) |
R172* |
probably null |
Het |
| Or4p20 |
T |
A |
2: 88,253,791 (GRCm39) |
I193F |
probably benign |
Het |
| Or9s13 |
A |
G |
1: 92,547,900 (GRCm39) |
N91D |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp9 |
G |
T |
16: 35,784,467 (GRCm39) |
E507* |
probably null |
Het |
| Pex13 |
A |
G |
11: 23,605,705 (GRCm39) |
I175T |
probably benign |
Het |
| Phf12 |
A |
G |
11: 77,914,370 (GRCm39) |
E604G |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,251,815 (GRCm39) |
|
probably null |
Het |
| Rragc |
T |
C |
4: 123,813,828 (GRCm39) |
Y141H |
possibly damaging |
Het |
| Slc35g3 |
A |
G |
11: 69,651,280 (GRCm39) |
V257A |
probably benign |
Het |
| Snx5 |
T |
C |
2: 144,102,674 (GRCm39) |
T80A |
probably benign |
Het |
| Sorcs2 |
G |
A |
5: 36,188,630 (GRCm39) |
A826V |
possibly damaging |
Het |
| Sptb |
G |
A |
12: 76,669,888 (GRCm39) |
A480V |
probably benign |
Het |
| Tmem161b |
T |
A |
13: 84,434,909 (GRCm39) |
S302R |
possibly damaging |
Het |
| Ube2o |
A |
T |
11: 116,430,496 (GRCm39) |
F1081I |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,608 (GRCm39) |
I658V |
probably benign |
Het |
| Vwa3b |
T |
G |
1: 37,174,600 (GRCm39) |
L672V |
probably benign |
Het |
| Wscd2 |
T |
C |
5: 113,715,411 (GRCm39) |
F417S |
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 |
|
R5578:Mdm2
|
UTSW |
10 |
117,538,192 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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'- CCCAGCTGGTACTTCTTTAAGATG -3'
(R):5'- GCTTCTACAATACAACTGTTTGGTC -3'
Sequencing Primer
(F):5'- GGAATTGAACCTGGGTCCTCTTAAC -3'
(R):5'- ACAACTGTTTGGTCTTGTACATG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation