Incidental Mutation 'R3695:Mdm4'
| ID |
268931 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3695 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
132913843-132958325 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132919731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 379
(L379S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068661
(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: L379S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000068661
Gene: ENSMUSG00000054387
AA Change: L379S
| 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: L378S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000070411
Gene: ENSMUSG00000054387
AA Change: L378S
| 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 benign
Transcript: ENSMUST00000188090
AA Change: L378S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000140609
Gene: ENSMUSG00000054387
AA Change: L378S
| 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: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010106E10Rik |
A |
T |
X: 111,466,012 (GRCm39) |
L187F |
probably damaging |
Het |
| Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atxn7l1 |
A |
G |
12: 33,408,696 (GRCm39) |
N286S |
probably damaging |
Het |
| B430306N03Rik |
C |
T |
17: 48,626,194 (GRCm39) |
T129I |
possibly damaging |
Het |
| Cabp2 |
A |
G |
19: 4,133,593 (GRCm39) |
T12A |
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dmrta1 |
T |
A |
4: 89,580,415 (GRCm39) |
Y458* |
probably null |
Het |
| Gabrr2 |
A |
G |
4: 33,071,430 (GRCm39) |
D65G |
probably damaging |
Het |
| Grin3a |
G |
T |
4: 49,792,704 (GRCm39) |
T343K |
possibly damaging |
Het |
| Hsp90ab1 |
T |
C |
17: 45,882,403 (GRCm39) |
D97G |
probably damaging |
Het |
| Mageb4 |
G |
T |
X: 85,296,000 (GRCm39) |
R10S |
probably damaging |
Het |
| Or8j3c |
T |
C |
2: 86,253,987 (GRCm39) |
E11G |
probably damaging |
Het |
| Or8k40 |
A |
T |
2: 86,584,215 (GRCm39) |
I289N |
probably damaging |
Het |
| Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
| Pkd2l2 |
A |
G |
18: 34,571,843 (GRCm39) |
N614S |
possibly damaging |
Het |
| Ppp2r2a |
C |
A |
14: 67,257,199 (GRCm39) |
D344Y |
probably damaging |
Het |
| Rbm4 |
A |
G |
19: 4,837,411 (GRCm39) |
Y358H |
probably damaging |
Het |
| Skic2 |
A |
G |
17: 35,066,888 (GRCm39) |
F154S |
probably damaging |
Het |
| St3gal2 |
A |
G |
8: 111,688,973 (GRCm39) |
D171G |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,964,421 (GRCm39) |
N515D |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,061,708 (GRCm39) |
Y367* |
probably null |
Het |
| Syk |
A |
G |
13: 52,776,801 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
A |
G |
4: 3,604,949 (GRCm39) |
|
probably null |
Het |
| Tlr5 |
A |
T |
1: 182,802,912 (GRCm39) |
R739W |
probably damaging |
Het |
| Tns2 |
G |
T |
15: 102,021,184 (GRCm39) |
V942L |
probably null |
Het |
| Tsnaxip1 |
A |
G |
8: 106,560,167 (GRCm39) |
T40A |
possibly damaging |
Het |
| Tub |
A |
G |
7: 108,627,039 (GRCm39) |
S313G |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,044 (GRCm39) |
N97D |
probably damaging |
Het |
| Wscd2 |
T |
A |
5: 113,689,078 (GRCm39) |
I28N |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCGTCTTCCCATGAATAATG -3'
(R):5'- TTGCTGGGCCTTGAGAAAGG -3'
Sequencing Primer
(F):5'- TGAATAATGTTCCCATCCCGAGG -3'
(R):5'- GCCTTGAGAAAGGATTGGTATTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation