Incidental Mutation 'R9279:Mdm4'
| ID |
703484 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdm4
|
| Ensembl Gene |
ENSMUSG00000054387 |
| Gene Name |
transformed mouse 3T3 cell double minute 4 |
| Synonyms |
Mdmx, 4933417N07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9279 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
132913843-132958325 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 132924416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 236
(T236M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068661
(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: T236M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000068661
Gene: ENSMUSG00000054387
AA Change: T236M
| 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: T235M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070411
Gene: ENSMUSG00000054387
AA Change: T235M
| 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 damaging
Transcript: ENSMUST00000186617
AA Change: T235M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140812
Gene: ENSMUSG00000054387
AA Change: T235M
| 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: T235M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140609
Gene: ENSMUSG00000054387
AA Change: T235M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (50/50) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr7a5 |
A |
T |
4: 139,044,079 (GRCm39) |
H225L |
possibly damaging |
Het |
| Arhgap32 |
C |
A |
9: 32,168,655 (GRCm39) |
H879Q |
probably benign |
Het |
| Axin2 |
A |
G |
11: 108,833,128 (GRCm39) |
I438V |
possibly damaging |
Het |
| Btbd18 |
T |
A |
2: 84,491,920 (GRCm39) |
C34S |
probably damaging |
Het |
| Carns1 |
G |
T |
19: 4,216,256 (GRCm39) |
T642N |
possibly damaging |
Het |
| Casp8 |
T |
C |
1: 58,883,542 (GRCm39) |
I283T |
probably benign |
Het |
| Ccdc136 |
T |
A |
6: 29,421,982 (GRCm39) |
|
probably benign |
Het |
| Ccnk |
C |
A |
12: 108,161,946 (GRCm39) |
Q284K |
unknown |
Het |
| Ceacam12 |
T |
A |
7: 17,801,177 (GRCm39) |
L52H |
probably damaging |
Het |
| Cit |
G |
A |
5: 116,065,970 (GRCm39) |
D540N |
probably damaging |
Het |
| Cntnap1 |
T |
C |
11: 101,072,121 (GRCm39) |
V458A |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,758,976 (GRCm39) |
I2077F |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,409,104 (GRCm39) |
K425E |
probably benign |
Het |
| Eya2 |
A |
G |
2: 165,529,631 (GRCm39) |
S125G |
probably benign |
Het |
| Gabrg1 |
T |
G |
5: 70,934,599 (GRCm39) |
M260L |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,732,153 (GRCm39) |
S1603G |
probably damaging |
Het |
| Isx |
A |
G |
8: 75,600,434 (GRCm39) |
T56A |
probably benign |
Het |
| Kif2b |
A |
T |
11: 91,467,975 (GRCm39) |
S103T |
probably benign |
Het |
| Krtap26-1 |
T |
C |
16: 88,444,342 (GRCm39) |
H93R |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mgat5 |
T |
A |
1: 127,325,348 (GRCm39) |
L405Q |
probably damaging |
Het |
| Msantd1 |
A |
G |
5: 35,080,885 (GRCm39) |
I272V |
probably benign |
Het |
| Ocstamp |
A |
G |
2: 165,237,768 (GRCm39) |
*499Q |
probably null |
Het |
| Or11h6 |
A |
G |
14: 50,880,493 (GRCm39) |
K252E |
possibly damaging |
Het |
| Or1e16 |
G |
A |
11: 73,279,789 (GRCm39) |
P21L |
probably benign |
Het |
| Or2n1d |
G |
A |
17: 38,646,414 (GRCm39) |
R122Q |
probably damaging |
Het |
| Or4c100 |
A |
G |
2: 88,356,211 (GRCm39) |
M95V |
probably benign |
Het |
| Or5b12 |
A |
T |
19: 12,897,309 (GRCm39) |
Y121* |
probably null |
Het |
| Pcdh15 |
T |
A |
10: 74,461,756 (GRCm39) |
|
probably benign |
Het |
| Pkdrej |
C |
T |
15: 85,700,834 (GRCm39) |
G1701S |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,113,757 (GRCm39) |
T754A |
probably damaging |
Het |
| Prss8 |
C |
A |
7: 127,527,082 (GRCm39) |
Q55H |
probably damaging |
Het |
| Psg20 |
G |
T |
7: 18,416,670 (GRCm39) |
R149S |
probably benign |
Het |
| Ptprz1 |
T |
G |
6: 23,002,444 (GRCm39) |
N1511K |
probably benign |
Het |
| Rbbp8nl |
C |
T |
2: 179,920,894 (GRCm39) |
|
probably null |
Het |
| Sgk2 |
A |
G |
2: 162,854,975 (GRCm39) |
D362G |
probably benign |
Het |
| Sim1 |
T |
C |
10: 50,859,796 (GRCm39) |
Y553H |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,208,896 (GRCm39) |
D504G |
probably damaging |
Het |
| Smad7 |
T |
C |
18: 75,502,547 (GRCm39) |
V174A |
possibly damaging |
Het |
| Smarcc1 |
T |
A |
9: 109,996,792 (GRCm39) |
N303K |
possibly damaging |
Het |
| Snai3 |
T |
C |
8: 123,183,038 (GRCm39) |
H169R |
possibly damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,895,505 (GRCm39) |
S331T |
possibly damaging |
Het |
| Tenm2 |
G |
A |
11: 35,959,303 (GRCm39) |
T1082I |
probably benign |
Het |
| Tle4 |
A |
T |
19: 14,429,890 (GRCm39) |
I627N |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,898,088 (GRCm39) |
N912I |
possibly damaging |
Het |
| Ube2q2l |
A |
G |
6: 136,377,978 (GRCm39) |
V284A |
probably damaging |
Het |
| Vmn1r238 |
A |
T |
18: 3,122,994 (GRCm39) |
V140E |
probably damaging |
Het |
| Vmn1r65 |
G |
A |
7: 6,011,988 (GRCm39) |
T82I |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,572,290 (GRCm39) |
K969R |
probably damaging |
Het |
| Zfp943 |
A |
G |
17: 22,209,832 (GRCm39) |
R35G |
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 |
|
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 |
|
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'- CTGCAGATGACTCTAGAACACAG -3'
(R):5'- GAGATGACTGTAGACTGCATTCTG -3'
Sequencing Primer
(F):5'- AGATGACTCTAGAACACAGATACAG -3'
(R):5'- CATTTACTGTTAAATTGCTTGTCAGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation