Incidental Mutation 'R8068:Mdm1'
| ID |
620117 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mdm1
|
| Ensembl Gene |
ENSMUSG00000020212 |
| Gene Name |
transformed mouse 3T3 cell double minute 1 |
| Synonyms |
Mdm-1 |
| MMRRC Submission |
067503-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R8068 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
117977716-118004902 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117982709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 115
(R115G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020437]
[ENSMUST00000163238]
[ENSMUST00000164077]
[ENSMUST00000169817]
[ENSMUST00000219087]
|
| AlphaFold |
Q9D067 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020437
AA Change: R115G
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020437
Gene: ENSMUSG00000020212
AA Change: R115G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDM1
|
9 |
544 |
1.1e-184 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163238
AA Change: R115G
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127919
Gene: ENSMUSG00000020212
AA Change: R115G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDM1
|
9 |
554 |
1.3e-187 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164077
AA Change: R115G
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132966
Gene: ENSMUSG00000020212
AA Change: R115G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDM1
|
9 |
544 |
5.5e-185 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169817
AA Change: R115G
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126258
Gene: ENSMUSG00000020212
AA Change: R115G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MDM1
|
9 |
172 |
8.3e-55 |
PFAM |
|
Pfam:MDM1
|
168 |
509 |
1e-115 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219087
AA Change: R115G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein similar to the mouse double minute 1 protein. The mouse gene is located in double minute (DM) chromatin particles, is amplified in the mouse transformed 3T3 cell line, and the encoded protein is able to bind to p53. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a nonsense point mutation exhibit retinal degeneration, abnormal eye electrophysiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
A |
8: 41,278,975 (GRCm39) |
D455E |
not run |
Het |
| Aldoc |
T |
C |
11: 78,215,553 (GRCm39) |
F79S |
possibly damaging |
Het |
| Atmin |
A |
G |
8: 117,683,389 (GRCm39) |
S350G |
probably benign |
Het |
| Bms1 |
A |
G |
6: 118,390,711 (GRCm39) |
F206S |
probably damaging |
Het |
| Carmil1 |
T |
A |
13: 24,259,711 (GRCm39) |
I698L |
probably benign |
Het |
| Cd47 |
T |
A |
16: 49,715,779 (GRCm39) |
S182T |
|
Het |
| Ces2e |
G |
T |
8: 105,659,629 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
A |
G |
5: 123,394,229 (GRCm39) |
S373G |
not run |
Het |
| Cit |
C |
A |
5: 116,090,525 (GRCm39) |
H906Q |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,120,294 (GRCm39) |
S1370P |
probably benign |
Het |
| Dchs2 |
T |
C |
3: 83,207,745 (GRCm39) |
F1739L |
probably benign |
Het |
| Dlx4 |
T |
C |
11: 95,036,156 (GRCm39) |
Y51C |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,883,276 (GRCm39) |
Y796* |
probably null |
Het |
| Elf1 |
T |
A |
14: 79,773,830 (GRCm39) |
F14I |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,404,827 (GRCm39) |
Q73R |
probably damaging |
Het |
| Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
| Gls2 |
C |
G |
10: 128,030,983 (GRCm39) |
R81G |
unknown |
Het |
| Hnrnpll |
T |
C |
17: 80,358,281 (GRCm39) |
M157V |
possibly damaging |
Het |
| Itgb3 |
T |
A |
11: 104,556,337 (GRCm39) |
M726K |
probably benign |
Het |
| Kcna10 |
T |
G |
3: 107,101,726 (GRCm39) |
M119R |
possibly damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,924,250 (GRCm39) |
T155A |
probably benign |
Het |
| Kctd9 |
T |
A |
14: 67,962,111 (GRCm39) |
D51E |
unknown |
Het |
| Lgr6 |
T |
C |
1: 134,991,402 (GRCm39) |
I129V |
probably benign |
Het |
| Lrrfip1 |
A |
T |
1: 91,055,824 (GRCm39) |
D598V |
probably damaging |
Het |
| Ltbp4 |
G |
T |
7: 27,023,593 (GRCm39) |
Q850K |
probably damaging |
Het |
| Mns1 |
A |
C |
9: 72,355,809 (GRCm39) |
|
probably null |
Het |
| Mthfs |
G |
A |
9: 89,093,288 (GRCm39) |
R14Q |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,298,422 (GRCm39) |
S25T |
|
Het |
| Ncapd3 |
T |
C |
9: 26,974,657 (GRCm39) |
S710P |
possibly damaging |
Het |
| Nrip1 |
T |
A |
16: 76,089,841 (GRCm39) |
H572L |
possibly damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Opa3 |
A |
G |
7: 18,978,910 (GRCm39) |
E125G |
probably damaging |
Het |
| Or52p1 |
T |
A |
7: 104,267,460 (GRCm39) |
C191* |
probably null |
Het |
| Or5ap2 |
A |
G |
2: 85,680,150 (GRCm39) |
E118G |
probably damaging |
Het |
| Or5w19 |
A |
G |
2: 87,698,995 (GRCm39) |
Y220C |
probably benign |
Het |
| P3h1 |
A |
G |
4: 119,094,059 (GRCm39) |
Y238C |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,763,555 (GRCm39) |
D652G |
possibly damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,138,618 (GRCm39) |
N82K |
probably damaging |
Het |
| Pde4b |
T |
C |
4: 102,453,212 (GRCm39) |
I293T |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Qki |
T |
C |
17: 10,537,732 (GRCm39) |
D24G |
possibly damaging |
Het |
| Rbpjl |
A |
G |
2: 164,250,438 (GRCm39) |
K197E |
possibly damaging |
Het |
| Rnf111 |
A |
T |
9: 70,365,223 (GRCm39) |
S415T |
probably benign |
Het |
| Scyl1 |
A |
G |
19: 5,810,853 (GRCm39) |
V488A |
probably damaging |
Het |
| Slc1a6 |
G |
C |
10: 78,648,706 (GRCm39) |
V476L |
possibly damaging |
Het |
| Slc22a17 |
A |
T |
14: 55,146,365 (GRCm39) |
F84I |
probably benign |
Het |
| Slc22a4 |
A |
C |
11: 53,888,269 (GRCm39) |
I253S |
possibly damaging |
Het |
| Speer2 |
T |
C |
16: 69,657,412 (GRCm39) |
H77R |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,398,894 (GRCm39) |
S2114P |
probably damaging |
Het |
| Synpo2 |
T |
A |
3: 122,911,041 (GRCm39) |
R201S |
possibly damaging |
Het |
| Ttpa |
C |
A |
4: 20,028,419 (GRCm39) |
H225Q |
probably damaging |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,261 (GRCm39) |
H236Q |
possibly damaging |
Het |
| Vmn2r7 |
A |
T |
3: 64,623,507 (GRCm39) |
V271D |
probably benign |
Het |
| Zfp53 |
A |
T |
17: 21,729,274 (GRCm39) |
T436S |
probably benign |
Het |
|
| Other mutations in Mdm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00494:Mdm1
|
APN |
10 |
118,000,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01400:Mdm1
|
APN |
10 |
117,993,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01504:Mdm1
|
APN |
10 |
117,982,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02070:Mdm1
|
APN |
10 |
117,982,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02149:Mdm1
|
APN |
10 |
117,983,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02817:Mdm1
|
APN |
10 |
118,000,251 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03076:Mdm1
|
APN |
10 |
117,995,588 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4696001:Mdm1
|
UTSW |
10 |
117,994,445 (GRCm39) |
missense |
probably benign |
|
|
R0071:Mdm1
|
UTSW |
10 |
117,982,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Mdm1
|
UTSW |
10 |
117,982,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0166:Mdm1
|
UTSW |
10 |
118,002,585 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0218:Mdm1
|
UTSW |
10 |
117,992,783 (GRCm39) |
splice site |
probably benign |
|
|
R0446:Mdm1
|
UTSW |
10 |
117,987,961 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0605:Mdm1
|
UTSW |
10 |
117,982,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Mdm1
|
UTSW |
10 |
117,986,847 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2870:Mdm1
|
UTSW |
10 |
117,986,847 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2873:Mdm1
|
UTSW |
10 |
117,986,847 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4816:Mdm1
|
UTSW |
10 |
117,982,782 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5571:Mdm1
|
UTSW |
10 |
117,995,588 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5623:Mdm1
|
UTSW |
10 |
117,986,694 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5806:Mdm1
|
UTSW |
10 |
118,002,563 (GRCm39) |
missense |
probably benign |
|
|
R6537:Mdm1
|
UTSW |
10 |
117,994,481 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6539:Mdm1
|
UTSW |
10 |
117,986,863 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6891:Mdm1
|
UTSW |
10 |
117,983,937 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6952:Mdm1
|
UTSW |
10 |
118,003,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7176:Mdm1
|
UTSW |
10 |
117,978,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7346:Mdm1
|
UTSW |
10 |
118,000,193 (GRCm39) |
nonsense |
probably null |
|
|
R7442:Mdm1
|
UTSW |
10 |
117,982,590 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7464:Mdm1
|
UTSW |
10 |
117,988,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8964:Mdm1
|
UTSW |
10 |
118,002,585 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9049:Mdm1
|
UTSW |
10 |
117,982,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9347:Mdm1
|
UTSW |
10 |
117,982,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9509:Mdm1
|
UTSW |
10 |
117,982,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Mdm1
|
UTSW |
10 |
117,994,267 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1177:Mdm1
|
UTSW |
10 |
117,994,401 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTTTGTAGGGATCACGAAAGAAC -3'
(R):5'- AACACGGTGGCTCTTCCTAC -3'
Sequencing Primer
(F):5'- TTCAAAAAGAAGAGTTCCCTACCATG -3'
(R):5'- ACCCTGGGATCTATGCTCTGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation