Incidental Mutation 'R6811:Mtbp'
| ID |
533818 |
| 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 |
045018-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6811 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
55420804-55489819 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 55469942 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 null
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 null
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 null
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: 100.0%
- 3x: 99.8%
- 10x: 99.1%
- 20x: 97.6%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,401,210 (GRCm39) |
S69P |
probably damaging |
Het |
| Alkbh7 |
G |
T |
17: 57,304,392 (GRCm39) |
R10L |
probably benign |
Het |
| Ano3 |
T |
C |
2: 110,711,212 (GRCm39) |
E84G |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,655,968 (GRCm39) |
E1326G |
possibly damaging |
Het |
| Atrnl1 |
T |
G |
19: 57,643,393 (GRCm39) |
M427R |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,386,739 (GRCm39) |
E1847G |
probably benign |
Het |
| Csf1r |
T |
C |
18: 61,252,125 (GRCm39) |
Y536H |
probably damaging |
Het |
| Dnm3 |
T |
C |
1: 162,148,652 (GRCm39) |
K240E |
probably damaging |
Het |
| Dsc1 |
T |
G |
18: 20,222,711 (GRCm39) |
E587A |
probably benign |
Het |
| Gm19410 |
C |
A |
8: 36,239,733 (GRCm39) |
A143E |
probably damaging |
Het |
| Gm19965 |
G |
T |
1: 116,731,809 (GRCm39) |
L38F |
probably damaging |
Het |
| Helz |
T |
C |
11: 107,510,144 (GRCm39) |
|
probably null |
Het |
| Herc2 |
C |
T |
7: 55,763,181 (GRCm39) |
R929* |
probably null |
Het |
| Iqcn |
T |
C |
8: 71,169,422 (GRCm39) |
S1171P |
probably benign |
Het |
| Krt31 |
A |
G |
11: 99,939,242 (GRCm39) |
L225P |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,605,512 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
G |
2: 41,339,206 (GRCm39) |
V765A |
probably benign |
Het |
| Lsm5 |
A |
G |
6: 56,679,127 (GRCm39) |
I34T |
possibly damaging |
Het |
| Ly6g6c |
T |
C |
17: 35,288,386 (GRCm39) |
L86P |
probably damaging |
Het |
| Meak7 |
A |
T |
8: 120,495,029 (GRCm39) |
I243N |
possibly damaging |
Het |
| Megf11 |
A |
G |
9: 64,451,923 (GRCm39) |
T116A |
probably damaging |
Het |
| Megf6 |
T |
C |
4: 154,336,618 (GRCm39) |
C190R |
probably damaging |
Het |
| Mroh9 |
A |
G |
1: 162,873,610 (GRCm39) |
V515A |
possibly damaging |
Het |
| Myo9b |
T |
A |
8: 71,809,222 (GRCm39) |
F1810L |
probably damaging |
Het |
| Nacad |
T |
G |
11: 6,549,400 (GRCm39) |
K180Q |
possibly damaging |
Het |
| Ncf2 |
G |
A |
1: 152,711,791 (GRCm39) |
V502I |
probably benign |
Het |
| Npsr1 |
T |
A |
9: 24,046,105 (GRCm39) |
C75S |
probably benign |
Het |
| Oog3 |
T |
C |
4: 143,886,152 (GRCm39) |
T149A |
probably benign |
Het |
| Pank1 |
T |
A |
19: 34,818,422 (GRCm39) |
Q39L |
probably benign |
Het |
| Pdx1 |
T |
C |
5: 147,211,474 (GRCm39) |
S232P |
possibly damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pirb |
A |
T |
7: 3,722,641 (GRCm39) |
V117E |
possibly damaging |
Het |
| Ppl |
G |
A |
16: 4,907,008 (GRCm39) |
L1096F |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,706,917 (GRCm39) |
Y2223* |
probably null |
Het |
| Slc16a4 |
A |
G |
3: 107,206,233 (GRCm39) |
Y101C |
probably benign |
Het |
| Slc17a3 |
A |
T |
13: 24,039,924 (GRCm39) |
I321F |
possibly damaging |
Het |
| Sufu |
T |
A |
19: 46,438,317 (GRCm39) |
D168E |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Vmn1r237 |
T |
G |
17: 21,534,648 (GRCm39) |
S124A |
probably benign |
Het |
| Vmn2r60 |
T |
A |
7: 41,844,310 (GRCm39) |
C558S |
probably damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,319,414 (GRCm39) |
T414I |
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,595,595 (GRCm39) |
S573P |
probably damaging |
Het |
| Zfp971 |
T |
G |
2: 177,675,674 (GRCm39) |
C424W |
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 |
|
|
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 |
|
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'- TTGAAGCATTCAGTCCTTTGC -3'
(R):5'- TCTCCGACTGGTAACCCATC -3'
Sequencing Primer
(F):5'- GCTTCCGAAATTTATATTGTGGGC -3'
(R):5'- CCTTAGCATCCAGTAATGTGAGTGAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation