Incidental Mutation 'R5360:Mdm4'
| ID |
424265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdm4
|
| Ensembl Gene |
ENSMUSG00000054387 |
| Gene Name |
transformed mouse 3T3 cell double minute 4 |
| Synonyms |
Mdmx, 4933417N07Rik |
| MMRRC Submission |
042939-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5360 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
132913843-132958325 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to T
at 132919396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Lysine
at position 490
(*490K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067398]
[ENSMUST00000067429]
[ENSMUST00000185398]
[ENSMUST00000186617]
[ENSMUST00000188090]
[ENSMUST00000191212]
|
| AlphaFold |
O35618 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067398
AA Change: *491K
|
| SMART Domains |
Protein: ENSMUSP00000068661
Gene: ENSMUSG00000054387
AA Change: *491K
| 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 null
Transcript: ENSMUST00000067429
AA Change: *490K
|
| SMART Domains |
Protein: ENSMUSP00000070411
Gene: ENSMUSG00000054387
AA Change: *490K
| 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 null
Transcript: ENSMUST00000188090
AA Change: *490K
|
| SMART Domains |
Protein: ENSMUSP00000140609
Gene: ENSMUSG00000054387
AA Change: *490K
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
T |
A |
19: 55,279,592 (GRCm39) |
Y443* |
probably null |
Het |
| Aox3 |
C |
T |
1: 58,185,667 (GRCm39) |
T331M |
probably damaging |
Het |
| Arhgap32 |
G |
A |
9: 32,170,967 (GRCm39) |
R1598H |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,106,436 (GRCm39) |
|
probably null |
Het |
| Brpf3 |
A |
T |
17: 29,029,536 (GRCm39) |
M499L |
probably benign |
Het |
| Cacnb1 |
A |
T |
11: 97,909,097 (GRCm39) |
|
probably null |
Het |
| Cep295 |
A |
G |
9: 15,238,029 (GRCm39) |
S1899P |
probably damaging |
Het |
| Cntn2 |
A |
G |
1: 132,446,595 (GRCm39) |
Y748H |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,532,599 (GRCm39) |
Y2532F |
probably damaging |
Het |
| Cstdc1 |
G |
T |
2: 148,625,298 (GRCm39) |
L77F |
probably damaging |
Het |
| Dsg1a |
A |
G |
18: 20,474,011 (GRCm39) |
D1028G |
probably damaging |
Het |
| Eif1ad16 |
A |
C |
12: 87,985,265 (GRCm39) |
L93V |
probably benign |
Het |
| Elp1 |
A |
T |
4: 56,800,104 (GRCm39) |
H7Q |
probably benign |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gabra5 |
C |
T |
7: 57,140,533 (GRCm39) |
G55R |
probably damaging |
Het |
| Gdf9 |
T |
A |
11: 53,328,034 (GRCm39) |
F330Y |
probably benign |
Het |
| Gimap8 |
T |
C |
6: 48,633,236 (GRCm39) |
S352P |
probably damaging |
Het |
| Gm4952 |
A |
T |
19: 12,600,993 (GRCm39) |
H71L |
probably benign |
Het |
| Gnaq |
G |
A |
19: 16,110,790 (GRCm39) |
R34H |
probably benign |
Het |
| Hebp2 |
T |
C |
10: 18,420,055 (GRCm39) |
D126G |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,453,464 (GRCm39) |
D601G |
possibly damaging |
Het |
| Hook2 |
T |
C |
8: 85,728,033 (GRCm39) |
Y577H |
probably damaging |
Het |
| Igfals |
A |
G |
17: 25,099,067 (GRCm39) |
T53A |
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,222,968 (GRCm39) |
D123G |
probably damaging |
Het |
| Ilrun |
A |
T |
17: 28,013,020 (GRCm39) |
I59N |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
| Neurl2 |
C |
A |
2: 164,675,021 (GRCm39) |
A114S |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,876,075 (GRCm39) |
T563A |
probably damaging |
Het |
| Or8g32 |
T |
G |
9: 39,305,698 (GRCm39) |
F204V |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pdlim1 |
A |
T |
19: 40,218,993 (GRCm39) |
S213T |
probably damaging |
Het |
| Pitx1 |
T |
C |
13: 55,976,291 (GRCm39) |
I123V |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,829,204 (GRCm39) |
N1013D |
probably benign |
Het |
| Pla2g2c |
T |
A |
4: 138,461,656 (GRCm39) |
Y42N |
possibly damaging |
Het |
| Polr2b |
G |
A |
5: 77,496,993 (GRCm39) |
A1168T |
possibly damaging |
Het |
| Ppp2r2a |
G |
A |
14: 67,254,020 (GRCm39) |
R383* |
probably null |
Het |
| Prl7a2 |
C |
T |
13: 27,843,143 (GRCm39) |
R220H |
probably benign |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rc3h2 |
A |
G |
2: 37,279,867 (GRCm39) |
V454A |
possibly damaging |
Het |
| Robo1 |
A |
G |
16: 72,732,665 (GRCm39) |
T307A |
probably damaging |
Het |
| Slc22a6 |
T |
C |
19: 8,596,786 (GRCm39) |
L188P |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 100,016,726 (GRCm39) |
N2167S |
probably benign |
Het |
| Spag5 |
G |
A |
11: 78,205,588 (GRCm39) |
E680K |
probably damaging |
Het |
| Spata6 |
A |
G |
4: 111,680,026 (GRCm39) |
Y428C |
possibly damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,291,660 (GRCm39) |
D47G |
probably benign |
Het |
| Trp53 |
T |
C |
11: 69,479,566 (GRCm39) |
|
probably null |
Het |
| Tsc22d1 |
TCAGCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCAGCA |
14: 76,654,707 (GRCm39) |
|
probably benign |
Het |
| Ttc39b |
T |
C |
4: 83,180,084 (GRCm39) |
D103G |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,750,322 (GRCm39) |
W3576G |
probably benign |
Het |
| Yeats2 |
T |
A |
16: 19,972,912 (GRCm39) |
M22K |
probably damaging |
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 |
|
IGL03099:Mdm4
|
APN |
1 |
132,919,947 (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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTTCACAATTTGGAAGAAC -3'
(R):5'- AATGTCTTGAAGCCGTGTAGC -3'
Sequencing Primer
(F):5'- AGTATCTTCTCACTAATGAAACCCTC -3'
(R):5'- CATGTTTCCACTGTGCCA -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation