Incidental Mutation 'R5273:Mdm4'
ID |
499955 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mdm4
|
Ensembl Gene |
ENSMUSG00000054387 |
Gene Name |
transformed mouse 3T3 cell double minute 4 |
Synonyms |
Mdmx, 4933417N07Rik |
MMRRC Submission |
042862-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5273 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
132913843-132958325 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 132922320 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 274
(T274M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140609
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067398]
[ENSMUST00000067429]
[ENSMUST00000185398]
[ENSMUST00000186617]
[ENSMUST00000188090]
[ENSMUST00000191212]
|
AlphaFold |
O35618 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067398
AA Change: T275M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000068661 Gene: ENSMUSG00000054387 AA Change: T275M
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 benign
Transcript: ENSMUST00000067429
AA Change: T274M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000070411 Gene: ENSMUSG00000054387 AA Change: T274M
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 |
noncoding transcript
Transcript: ENSMUST00000186513
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186617
AA Change: T274M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140812 Gene: ENSMUSG00000054387 AA Change: T274M
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 benign
Transcript: ENSMUST00000188090
AA Change: T274M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140609 Gene: ENSMUSG00000054387 AA Change: T274M
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: ENSMUST00000191212
|
SMART Domains |
Protein: ENSMUSP00000140006 Gene: ENSMUSG00000054387
Domain | Start | End | E-Value | Type |
Pfam:SWIB
|
27 |
102 |
1.4e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190312
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189596
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
T |
C |
14: 118,832,233 (GRCm39) |
N799S |
possibly damaging |
Het |
Arhgap20 |
A |
G |
9: 51,759,916 (GRCm39) |
N589S |
probably damaging |
Het |
Armc10 |
C |
T |
5: 21,858,426 (GRCm39) |
A157V |
possibly damaging |
Het |
Atp2b2 |
A |
G |
6: 113,736,193 (GRCm39) |
L958P |
probably damaging |
Het |
Bhmt2 |
G |
A |
13: 93,803,086 (GRCm39) |
A149V |
possibly damaging |
Het |
Ccdc7a |
CATCAGCTGATAT |
CAT |
8: 129,788,090 (GRCm39) |
|
probably null |
Het |
Cntnap4 |
A |
G |
8: 113,460,070 (GRCm39) |
D141G |
probably damaging |
Het |
Cplane1 |
T |
C |
15: 8,273,825 (GRCm39) |
S2603P |
probably damaging |
Het |
Cplane1 |
T |
C |
15: 8,292,422 (GRCm39) |
S3012P |
unknown |
Het |
Dis3 |
A |
G |
14: 99,336,242 (GRCm39) |
V88A |
probably benign |
Het |
Dnajc21 |
A |
T |
15: 10,454,893 (GRCm39) |
C316S |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,363,689 (GRCm39) |
T4084A |
probably damaging |
Het |
Dock3 |
A |
C |
9: 106,777,904 (GRCm39) |
|
probably null |
Het |
Eml5 |
T |
C |
12: 98,756,947 (GRCm39) |
H1894R |
probably damaging |
Het |
Galc |
T |
C |
12: 98,218,330 (GRCm39) |
Y174C |
probably damaging |
Het |
Gm4841 |
C |
T |
18: 60,403,815 (GRCm39) |
V93I |
probably benign |
Het |
Gm7995 |
T |
C |
14: 42,133,413 (GRCm39) |
Y98H |
probably damaging |
Het |
Gnrhr |
T |
A |
5: 86,330,105 (GRCm39) |
H305L |
possibly damaging |
Het |
Gpr179 |
A |
T |
11: 97,238,256 (GRCm39) |
F323I |
probably damaging |
Het |
Kdm6b |
G |
T |
11: 69,295,027 (GRCm39) |
P1080Q |
unknown |
Het |
Man2a1 |
C |
T |
17: 65,040,780 (GRCm39) |
T126I |
probably damaging |
Het |
Mug1 |
T |
A |
6: 121,850,748 (GRCm39) |
V748E |
probably damaging |
Het |
Nav3 |
A |
T |
10: 109,528,899 (GRCm39) |
|
probably null |
Het |
Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
Or8d6 |
T |
C |
9: 39,853,853 (GRCm39) |
V99A |
probably benign |
Het |
Or8g36 |
A |
G |
9: 39,422,795 (GRCm39) |
S74P |
possibly damaging |
Het |
Pcdhb1 |
T |
C |
18: 37,398,766 (GRCm39) |
V239A |
probably benign |
Het |
Ppic |
T |
A |
18: 53,542,330 (GRCm39) |
H126L |
probably damaging |
Het |
Sdk1 |
T |
C |
5: 141,984,583 (GRCm39) |
F463L |
probably damaging |
Het |
Shroom1 |
A |
G |
11: 53,354,671 (GRCm39) |
E197G |
possibly damaging |
Het |
Slc22a14 |
A |
G |
9: 118,999,704 (GRCm39) |
S496P |
probably benign |
Het |
Slc27a1 |
G |
A |
8: 72,036,900 (GRCm39) |
G379S |
probably benign |
Het |
Slco1a5 |
T |
C |
6: 142,187,824 (GRCm39) |
E505G |
probably benign |
Het |
Snrpe |
A |
C |
1: 133,537,518 (GRCm39) |
|
probably benign |
Het |
Sp100 |
G |
T |
1: 85,636,825 (GRCm39) |
V299F |
possibly damaging |
Het |
Stard9 |
A |
G |
2: 120,535,568 (GRCm39) |
S3942G |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,644,948 (GRCm39) |
V12969A |
probably damaging |
Het |
Txndc11 |
T |
C |
16: 10,946,487 (GRCm39) |
Q108R |
probably benign |
Het |
Wnk4 |
A |
T |
11: 101,154,695 (GRCm39) |
I295F |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTGTGTTAGCAGGGACAG -3'
(R):5'- CGTGCACAACATAACATTTCCTG -3'
Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- TGCACAACATAACATTTCCTGCATAG -3'
|
Posted On |
2017-11-30 |