Incidental Mutation 'IGL03099:Mdm4'
| ID |
418669 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mdm4
|
| Ensembl Gene |
ENSMUSG00000054387 |
| Gene Name |
transformed mouse 3T3 cell double minute 4 |
| Synonyms |
Mdmx, 4933417N07Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03099
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
132913843-132958325 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 132919947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 306
(T306M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067398]
[ENSMUST00000067429]
[ENSMUST00000185398]
[ENSMUST00000186617]
[ENSMUST00000188090]
[ENSMUST00000191212]
|
| AlphaFold |
O35618 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067398
AA Change: T307M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068661
Gene: ENSMUSG00000054387
AA Change: T307M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIB
|
26 |
96 |
3.7e-10 |
PFAM |
|
low complexity region
|
281 |
295 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
302 |
326 |
1.65e-2 |
SMART |
|
RING
|
437 |
477 |
7.26e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067429
AA Change: T306M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070411
Gene: ENSMUSG00000054387
AA Change: T306M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIB
|
26 |
101 |
2.5e-17 |
PFAM |
|
low complexity region
|
280 |
294 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
301 |
325 |
1.65e-2 |
SMART |
|
RING
|
436 |
476 |
7.26e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185398
|
| SMART Domains |
Protein: ENSMUSP00000140090
Gene: ENSMUSG00000054387
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIB
|
27 |
102 |
1.8e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186617
|
| SMART Domains |
Protein: ENSMUSP00000140812
Gene: ENSMUSG00000054387
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIB
|
26 |
101 |
9.9e-15 |
PFAM |
|
low complexity region
|
280 |
294 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188090
AA Change: T306M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140609
Gene: ENSMUSG00000054387
AA Change: T306M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIB
|
26 |
101 |
2.5e-17 |
PFAM |
|
low complexity region
|
280 |
294 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
301 |
325 |
1.65e-2 |
SMART |
|
RING
|
436 |
476 |
7.26e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189596
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190312
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191212
|
| SMART Domains |
Protein: ENSMUSP00000140006
Gene: ENSMUSG00000054387
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SWIB
|
27 |
102 |
1.4e-15 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a protein that has been shown to negatively regulate the activity of the tumor suppressor protein p53. Homozygous knockout mice exhibit embryonic lethality as a result of p53-dependent apoptosis and cell cycle arrest. Amplification of this gene or overexpression of the encoded protein has been linked to a range of human cancers. A pseudogene has been identified on the X chromosome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality, decreased cellular proliferation, and abnormal nervous system development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akp3 |
C |
A |
1: 87,055,328 (GRCm39) |
F458L |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,026,353 (GRCm39) |
L546P |
unknown |
Het |
| Arpc5l |
A |
G |
2: 38,903,844 (GRCm39) |
Y111C |
probably damaging |
Het |
| Atp11a |
T |
C |
8: 12,877,462 (GRCm39) |
F296S |
possibly damaging |
Het |
| Bbof1 |
C |
T |
12: 84,473,539 (GRCm39) |
Q290* |
probably null |
Het |
| Brinp3 |
A |
T |
1: 146,777,835 (GRCm39) |
T761S |
possibly damaging |
Het |
| Cyp2j6 |
A |
T |
4: 96,424,328 (GRCm39) |
M143K |
possibly damaging |
Het |
| Daw1 |
T |
C |
1: 83,157,088 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,314,862 (GRCm39) |
N6498D |
probably damaging |
Het |
| Fbxo15 |
T |
C |
18: 84,999,338 (GRCm39) |
L380P |
possibly damaging |
Het |
| Glce |
A |
T |
9: 61,967,344 (GRCm39) |
F602L |
probably benign |
Het |
| Gpatch1 |
A |
G |
7: 34,996,948 (GRCm39) |
S417P |
possibly damaging |
Het |
| Hjurp |
T |
C |
1: 88,194,011 (GRCm39) |
K223R |
probably benign |
Het |
| Hnrnpm |
C |
T |
17: 33,888,146 (GRCm39) |
C113Y |
probably damaging |
Het |
| Igkv4-71 |
T |
C |
6: 69,220,399 (GRCm39) |
M11V |
probably benign |
Het |
| Insr |
G |
T |
8: 3,308,715 (GRCm39) |
T107K |
probably damaging |
Het |
| Nek11 |
T |
C |
9: 105,164,852 (GRCm39) |
I425V |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,230,408 (GRCm39) |
V95E |
probably damaging |
Het |
| Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
| Snx10 |
T |
A |
6: 51,556,840 (GRCm39) |
M41K |
possibly damaging |
Het |
| Sos2 |
T |
A |
12: 69,663,133 (GRCm39) |
N588Y |
probably damaging |
Het |
| Srrm3 |
C |
A |
5: 135,898,152 (GRCm39) |
|
probably benign |
Het |
| Tbc1d19 |
G |
T |
5: 54,040,997 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
A |
7: 84,871,448 (GRCm39) |
K612* |
probably null |
Het |
|
| Other mutations in Mdm4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01778:Mdm4
|
APN |
1 |
132,922,285 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03034:Mdm4
|
APN |
1 |
132,938,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Isla_nublar
|
UTSW |
1 |
132,940,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Jurassic
|
UTSW |
1 |
132,938,853 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Sun_island
|
UTSW |
1 |
132,940,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0630:Mdm4
|
UTSW |
1 |
132,919,491 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1170:Mdm4
|
UTSW |
1 |
132,940,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1170:Mdm4
|
UTSW |
1 |
132,919,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1774:Mdm4
|
UTSW |
1 |
132,924,384 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1920:Mdm4
|
UTSW |
1 |
132,931,538 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2061:Mdm4
|
UTSW |
1 |
132,940,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2212:Mdm4
|
UTSW |
1 |
132,922,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3695:Mdm4
|
UTSW |
1 |
132,919,731 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3919:Mdm4
|
UTSW |
1 |
132,922,306 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5273:Mdm4
|
UTSW |
1 |
132,922,320 (GRCm39) |
missense |
probably benign |
|
|
R5360:Mdm4
|
UTSW |
1 |
132,919,396 (GRCm39) |
makesense |
probably null |
|
|
R6125:Mdm4
|
UTSW |
1 |
132,922,248 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6153:Mdm4
|
UTSW |
1 |
132,919,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7028:Mdm4
|
UTSW |
1 |
132,931,547 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7234:Mdm4
|
UTSW |
1 |
132,938,853 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7267:Mdm4
|
UTSW |
1 |
132,922,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8831:Mdm4
|
UTSW |
1 |
132,931,601 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8932:Mdm4
|
UTSW |
1 |
132,940,382 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8941:Mdm4
|
UTSW |
1 |
132,919,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9272:Mdm4
|
UTSW |
1 |
132,929,169 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9279:Mdm4
|
UTSW |
1 |
132,924,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9356:Mdm4
|
UTSW |
1 |
132,938,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Mdm4
|
UTSW |
1 |
132,922,285 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2016-08-02 |
Incidental Mutation