Incidental Mutation 'R0735:Mtbp'
| ID |
68250 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtbp
|
| Ensembl Gene |
ENSMUSG00000022369 |
| Gene Name |
Mdm2, transformed 3T3 cell double minute p53 binding protein |
| Synonyms |
MDM2BP |
| MMRRC Submission |
038916-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0735 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
55420804-55489819 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 55426338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 93
(C93*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022998]
[ENSMUST00000170046]
|
| AlphaFold |
Q8BJS8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022998
AA Change: C93*
|
| SMART Domains |
Protein: ENSMUSP00000022998
Gene: ENSMUSG00000022369
AA Change: C93*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MTBP_N
|
1 |
270 |
1.2e-116 |
PFAM |
|
Pfam:MTBP_mid
|
287 |
626 |
1.4e-161 |
PFAM |
|
Pfam:MTBP_C
|
630 |
884 |
1.3e-122 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169517
AA Change: *30K
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170046
AA Change: C93*
|
| SMART Domains |
Protein: ENSMUSP00000129396
Gene: ENSMUSG00000022369
AA Change: C93*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MTBP_N
|
1 |
276 |
3.4e-145 |
PFAM |
|
Pfam:MTBP_mid
|
286 |
626 |
3.1e-171 |
PFAM |
|
| Meta Mutation Damage Score |
0.9754 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.7%
- 20x: 91.8%
|
| Validation Efficiency |
95% (73/77) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the oncoprotein mouse double minute 2. The encoded protein regulates progression through the cell cycle and may be involved in tumor formation. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a reporter allele exhibit early embryonic lethality; interestingly, heterozygous mice are not tumor prone. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
A |
14: 29,711,669 (GRCm39) |
M405K |
probably benign |
Het |
| Adam10 |
G |
A |
9: 70,655,533 (GRCm39) |
V334I |
possibly damaging |
Het |
| Adgra2 |
G |
T |
8: 27,607,346 (GRCm39) |
G686C |
probably damaging |
Het |
| Akap11 |
A |
T |
14: 78,747,518 (GRCm39) |
I1623N |
probably damaging |
Het |
| Astn1 |
A |
T |
1: 158,299,959 (GRCm39) |
T100S |
possibly damaging |
Het |
| B3galt1 |
A |
C |
2: 67,948,923 (GRCm39) |
I213L |
possibly damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,644,236 (GRCm39) |
K101E |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,695,038 (GRCm39) |
I1552K |
possibly damaging |
Het |
| Camsap2 |
A |
G |
1: 136,220,626 (GRCm39) |
S324P |
probably damaging |
Het |
| Chrnb4 |
A |
G |
9: 54,951,084 (GRCm39) |
S60P |
probably damaging |
Het |
| Cpne1 |
A |
G |
2: 155,920,670 (GRCm39) |
|
probably null |
Het |
| Cubn |
G |
A |
2: 13,496,500 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cxcl15 |
T |
C |
5: 90,949,153 (GRCm39) |
M106T |
probably benign |
Het |
| Cyp2c23 |
A |
T |
19: 44,005,249 (GRCm39) |
M140K |
probably damaging |
Het |
| Dgke |
A |
G |
11: 88,950,901 (GRCm39) |
F104S |
probably benign |
Het |
| Dhx36 |
T |
A |
3: 62,380,150 (GRCm39) |
M849L |
probably benign |
Het |
| Dnah7a |
C |
T |
1: 53,583,670 (GRCm39) |
E1522K |
possibly damaging |
Het |
| Edil3 |
G |
T |
13: 89,325,297 (GRCm39) |
V219F |
probably damaging |
Het |
| Egln1 |
A |
G |
8: 125,675,234 (GRCm39) |
V187A |
possibly damaging |
Het |
| Fam193a |
T |
C |
5: 34,596,722 (GRCm39) |
I455T |
possibly damaging |
Het |
| Fdft1 |
A |
T |
14: 63,400,869 (GRCm39) |
I88N |
probably damaging |
Het |
| Fem1c |
G |
A |
18: 46,638,227 (GRCm39) |
R592C |
probably benign |
Het |
| Frs2 |
T |
A |
10: 116,910,487 (GRCm39) |
S292C |
probably damaging |
Het |
| Gpr107 |
T |
A |
2: 31,062,006 (GRCm39) |
F145I |
probably benign |
Het |
| Gpr153 |
T |
A |
4: 152,363,830 (GRCm39) |
C83* |
probably null |
Het |
| H2-Q7 |
T |
G |
17: 35,659,162 (GRCm39) |
|
probably null |
Het |
| Hsp90b1 |
A |
T |
10: 86,531,612 (GRCm39) |
|
probably benign |
Het |
| Kcnk1 |
C |
A |
8: 126,752,028 (GRCm39) |
N211K |
probably damaging |
Het |
| Klb |
T |
C |
5: 65,537,070 (GRCm39) |
V800A |
probably benign |
Het |
| Lat2 |
T |
C |
5: 134,635,637 (GRCm39) |
Y59C |
probably damaging |
Het |
| Mlkl |
A |
T |
8: 112,054,433 (GRCm39) |
|
probably benign |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Myo7a |
A |
G |
7: 97,730,387 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,449,180 (GRCm39) |
|
probably benign |
Het |
| Ogfrl1 |
T |
C |
1: 23,414,835 (GRCm39) |
Q224R |
possibly damaging |
Het |
| Or10j2 |
A |
G |
1: 173,098,569 (GRCm39) |
T276A |
probably benign |
Het |
| Or56b2 |
A |
T |
7: 104,338,026 (GRCm39) |
H268L |
probably damaging |
Het |
| Osbpl2 |
A |
G |
2: 179,792,083 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
T |
C |
7: 3,824,781 (GRCm39) |
T533A |
possibly damaging |
Het |
| Plb1 |
C |
T |
5: 32,442,264 (GRCm39) |
T252M |
possibly damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbsn |
T |
C |
6: 92,166,674 (GRCm39) |
T657A |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rps6kb2 |
C |
A |
19: 4,207,882 (GRCm39) |
S348I |
probably benign |
Het |
| Rsrp1 |
C |
T |
4: 134,651,568 (GRCm39) |
R111W |
unknown |
Het |
| Ryr3 |
T |
C |
2: 112,563,327 (GRCm39) |
T2933A |
probably benign |
Het |
| Scara5 |
A |
G |
14: 65,968,468 (GRCm39) |
D247G |
possibly damaging |
Het |
| Slc7a11 |
C |
T |
3: 50,378,545 (GRCm39) |
S231N |
probably benign |
Het |
| Sod2 |
A |
T |
17: 13,229,451 (GRCm39) |
N91Y |
probably damaging |
Het |
| Spesp1 |
A |
T |
9: 62,179,967 (GRCm39) |
S314T |
probably benign |
Het |
| St3gal1 |
C |
A |
15: 66,985,536 (GRCm39) |
M39I |
probably benign |
Het |
| Stat6 |
A |
T |
10: 127,494,110 (GRCm39) |
I646F |
probably damaging |
Het |
| Tdrd1 |
A |
T |
19: 56,854,410 (GRCm39) |
K1119* |
probably null |
Het |
| Thbs2 |
A |
G |
17: 14,900,077 (GRCm39) |
I600T |
probably benign |
Het |
| Tor1a |
A |
G |
2: 30,853,850 (GRCm39) |
V160A |
probably damaging |
Het |
| Trdmt1 |
T |
G |
2: 13,528,249 (GRCm39) |
D104A |
probably benign |
Het |
| Trim58 |
T |
C |
11: 58,542,219 (GRCm39) |
V393A |
probably benign |
Het |
| Trip4 |
C |
T |
9: 65,792,200 (GRCm39) |
|
probably benign |
Het |
| Trip6 |
T |
C |
5: 137,309,083 (GRCm39) |
E341G |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,545,539 (GRCm39) |
I32595F |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,155,339 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,596,890 (GRCm39) |
V3877I |
probably benign |
Het |
| Vmn1r29 |
G |
T |
6: 58,284,717 (GRCm39) |
G146C |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,315,707 (GRCm39) |
V704A |
probably benign |
Het |
| Vmn2r7 |
C |
T |
3: 64,623,788 (GRCm39) |
M268I |
probably benign |
Het |
| Wnt7b |
G |
A |
15: 85,421,696 (GRCm39) |
T248M |
probably damaging |
Het |
| Xab2 |
G |
A |
8: 3,663,649 (GRCm39) |
P394S |
possibly damaging |
Het |
| Zfp663 |
A |
G |
2: 165,200,995 (GRCm39) |
V13A |
probably damaging |
Het |
|
| Other mutations in Mtbp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00799:Mtbp
|
APN |
15 |
55,480,904 (GRCm39) |
nonsense |
probably null |
|
|
IGL00988:Mtbp
|
APN |
15 |
55,421,894 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01608:Mtbp
|
APN |
15 |
55,421,085 (GRCm39) |
nonsense |
probably null |
|
|
IGL02422:Mtbp
|
APN |
15 |
55,426,439 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02664:Mtbp
|
APN |
15 |
55,483,039 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03160:Mtbp
|
APN |
15 |
55,484,013 (GRCm39) |
splice site |
probably benign |
|
|
R0008:Mtbp
|
UTSW |
15 |
55,449,889 (GRCm39) |
splice site |
probably benign |
|
|
R0008:Mtbp
|
UTSW |
15 |
55,449,889 (GRCm39) |
splice site |
probably benign |
|
|
R0242:Mtbp
|
UTSW |
15 |
55,440,882 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0242:Mtbp
|
UTSW |
15 |
55,440,882 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0280:Mtbp
|
UTSW |
15 |
55,449,857 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0302:Mtbp
|
UTSW |
15 |
55,488,820 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0387:Mtbp
|
UTSW |
15 |
55,474,425 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0402:Mtbp
|
UTSW |
15 |
55,432,466 (GRCm39) |
nonsense |
probably null |
|
|
R0648:Mtbp
|
UTSW |
15 |
55,466,597 (GRCm39) |
missense |
probably benign |
|
|
R0845:Mtbp
|
UTSW |
15 |
55,426,486 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1186:Mtbp
|
UTSW |
15 |
55,428,067 (GRCm39) |
missense |
probably null |
1.00 |
|
R1398:Mtbp
|
UTSW |
15 |
55,440,933 (GRCm39) |
nonsense |
probably null |
|
|
R1500:Mtbp
|
UTSW |
15 |
55,480,951 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1712:Mtbp
|
UTSW |
15 |
55,434,690 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1893:Mtbp
|
UTSW |
15 |
55,421,064 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1902:Mtbp
|
UTSW |
15 |
55,470,111 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1917:Mtbp
|
UTSW |
15 |
55,428,073 (GRCm39) |
splice site |
probably benign |
|
|
R2267:Mtbp
|
UTSW |
15 |
55,432,556 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2268:Mtbp
|
UTSW |
15 |
55,432,556 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2269:Mtbp
|
UTSW |
15 |
55,432,556 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2383:Mtbp
|
UTSW |
15 |
55,429,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2512:Mtbp
|
UTSW |
15 |
55,440,932 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2924:Mtbp
|
UTSW |
15 |
55,483,210 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2925:Mtbp
|
UTSW |
15 |
55,483,210 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4164:Mtbp
|
UTSW |
15 |
55,472,917 (GRCm39) |
missense |
probably benign |
|
|
R4232:Mtbp
|
UTSW |
15 |
55,484,073 (GRCm39) |
nonsense |
probably null |
|
|
R4255:Mtbp
|
UTSW |
15 |
55,484,081 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4438:Mtbp
|
UTSW |
15 |
55,466,611 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5009:Mtbp
|
UTSW |
15 |
55,466,583 (GRCm39) |
missense |
probably benign |
|
|
R5132:Mtbp
|
UTSW |
15 |
55,421,965 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5685:Mtbp
|
UTSW |
15 |
55,426,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5933:Mtbp
|
UTSW |
15 |
55,434,723 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6377:Mtbp
|
UTSW |
15 |
55,421,016 (GRCm39) |
start codon destroyed |
probably null |
0.32 |
|
R6554:Mtbp
|
UTSW |
15 |
55,430,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6811:Mtbp
|
UTSW |
15 |
55,469,942 (GRCm39) |
splice site |
probably null |
|
|
R6942:Mtbp
|
UTSW |
15 |
55,430,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7134:Mtbp
|
UTSW |
15 |
55,421,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7374:Mtbp
|
UTSW |
15 |
55,426,355 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7397:Mtbp
|
UTSW |
15 |
55,432,547 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7520:Mtbp
|
UTSW |
15 |
55,440,742 (GRCm39) |
intron |
probably benign |
|
|
R7655:Mtbp
|
UTSW |
15 |
55,472,922 (GRCm39) |
missense |
unknown |
|
|
R7656:Mtbp
|
UTSW |
15 |
55,472,922 (GRCm39) |
missense |
unknown |
|
|
R8472:Mtbp
|
UTSW |
15 |
55,449,748 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9215:Mtbp
|
UTSW |
15 |
55,484,035 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9786:Mtbp
|
UTSW |
15 |
55,481,032 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTCTTTGCGGTGCAAGCAATATG -3'
(R):5'- TGAGAGGTCTAACCTGCCCATTGTC -3'
Sequencing Primer
(F):5'- GCAATATGCGGATTTTACCAGG -3'
(R):5'- GGTACTGTTAAACATCTGCAAGGC -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation