Incidental Mutation 'R0008:Mtbp'
ID |
7982 |
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 |
038303-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0008 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
55420804-55489819 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 55449889 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129396
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022998]
[ENSMUST00000169667]
[ENSMUST00000170046]
|
AlphaFold |
Q8BJS8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022998
|
SMART Domains |
Protein: ENSMUSP00000022998 Gene: ENSMUSG00000022369
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 benign
Transcript: ENSMUST00000169667
|
SMART Domains |
Protein: ENSMUSP00000128615 Gene: ENSMUSG00000022369
Domain | Start | End | E-Value | Type |
Pfam:MTBP_mid
|
1 |
253 |
2.3e-119 |
PFAM |
Pfam:MTBP_C
|
257 |
511 |
2.5e-129 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170046
|
SMART Domains |
Protein: ENSMUSP00000129396 Gene: ENSMUSG00000022369
Domain | Start | End | E-Value | Type |
Pfam:MTBP_N
|
1 |
276 |
3.4e-145 |
PFAM |
Pfam:MTBP_mid
|
286 |
626 |
3.1e-171 |
PFAM |
|
Coding Region Coverage |
- 1x: 81.0%
- 3x: 72.4%
- 10x: 49.2%
- 20x: 28.4%
|
Validation Efficiency |
90% (82/91) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
T |
C |
3: 137,882,346 (GRCm39) |
K118R |
possibly damaging |
Het |
Afap1l1 |
A |
G |
18: 61,889,976 (GRCm39) |
S87P |
probably benign |
Het |
Ankrd27 |
A |
G |
7: 35,303,125 (GRCm39) |
K196R |
probably benign |
Het |
Arrdc3 |
T |
A |
13: 81,039,194 (GRCm39) |
I75N |
probably damaging |
Het |
Calcrl |
T |
C |
2: 84,203,618 (GRCm39) |
D54G |
probably benign |
Het |
Cnot1 |
G |
T |
8: 96,487,969 (GRCm39) |
D562E |
probably damaging |
Het |
Cp |
T |
A |
3: 20,022,287 (GRCm39) |
Y230N |
probably damaging |
Het |
Dclre1c |
T |
C |
2: 3,439,032 (GRCm39) |
V64A |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,202,075 (GRCm39) |
L333H |
probably damaging |
Het |
Hoxc11 |
T |
C |
15: 102,863,397 (GRCm39) |
V146A |
probably damaging |
Het |
Il11 |
T |
C |
7: 4,776,658 (GRCm39) |
S111G |
probably benign |
Het |
Ist1 |
A |
T |
8: 110,403,418 (GRCm39) |
I273K |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,346,895 (GRCm39) |
N784Y |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,462,716 (GRCm39) |
E648G |
probably damaging |
Het |
Nat9 |
A |
T |
11: 115,075,941 (GRCm39) |
Y27N |
probably damaging |
Het |
Nipsnap3b |
T |
A |
4: 53,015,112 (GRCm39) |
L53Q |
probably damaging |
Het |
Nlrp3 |
A |
T |
11: 59,449,274 (GRCm39) |
H852L |
probably benign |
Het |
Pax9 |
A |
G |
12: 56,756,528 (GRCm39) |
T289A |
probably benign |
Het |
Pcyt2 |
A |
T |
11: 120,506,695 (GRCm39) |
I53N |
possibly damaging |
Het |
Pdzph1 |
T |
A |
17: 59,229,756 (GRCm39) |
|
probably benign |
Het |
Plekhm2 |
C |
T |
4: 141,369,704 (GRCm39) |
|
probably benign |
Het |
Ppt1 |
T |
C |
4: 122,742,216 (GRCm39) |
|
probably benign |
Het |
Prep |
T |
C |
10: 44,991,174 (GRCm39) |
V280A |
probably benign |
Het |
Proser3 |
G |
A |
7: 30,239,563 (GRCm39) |
R514C |
probably damaging |
Het |
Rbm45 |
T |
C |
2: 76,208,742 (GRCm39) |
Y293H |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,747,581 (GRCm39) |
L643P |
probably damaging |
Het |
Slc1a1 |
G |
A |
19: 28,878,884 (GRCm39) |
G208S |
probably benign |
Het |
Slc35b4 |
A |
T |
6: 34,135,452 (GRCm39) |
Y287N |
probably damaging |
Het |
Srgap2 |
T |
C |
1: 131,283,302 (GRCm39) |
T260A |
probably damaging |
Het |
Taf5 |
A |
G |
19: 47,064,301 (GRCm39) |
S415G |
possibly damaging |
Het |
Tdp2 |
T |
G |
13: 25,025,333 (GRCm39) |
|
probably null |
Het |
Tnrc6a |
G |
A |
7: 122,769,617 (GRCm39) |
R469H |
probably benign |
Het |
Tox |
T |
A |
4: 6,842,411 (GRCm39) |
M40L |
probably benign |
Het |
Trib2 |
A |
T |
12: 15,859,930 (GRCm39) |
H110Q |
probably benign |
Het |
Trpa1 |
A |
G |
1: 14,973,439 (GRCm39) |
I293T |
possibly damaging |
Het |
Wdr93 |
A |
G |
7: 79,408,221 (GRCm39) |
E234G |
probably damaging |
Het |
Zfp385b |
A |
T |
2: 77,246,291 (GRCm39) |
S245R |
probably benign |
Het |
Zfyve9 |
T |
A |
4: 108,575,902 (GRCm39) |
E393V |
possibly 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 |
|
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 |
|
R0735:Mtbp
|
UTSW |
15 |
55,426,338 (GRCm39) |
nonsense |
probably null |
|
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 |
|
|
Posted On |
2012-11-20 |