Incidental Mutation 'R9786:Mtbp'
| ID |
734358 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9786 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
55420804-55489819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55481032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 706
(S706P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022998]
[ENSMUST00000169667]
|
| AlphaFold |
Q8BJS8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022998
AA Change: S706P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022998
Gene: ENSMUSG00000022369
AA Change: S706P
| 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
AA Change: S333P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128615
Gene: ENSMUSG00000022369
AA Change: S333P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MTBP_mid
|
1 |
253 |
2.3e-119 |
PFAM |
|
Pfam:MTBP_C
|
257 |
511 |
2.5e-129 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.2%
- 20x: 97.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
A |
9: 99,502,536 (GRCm39) |
M232K |
possibly damaging |
Het |
| Abcc1 |
T |
C |
16: 14,222,927 (GRCm39) |
S243P |
probably damaging |
Het |
| Acsl1 |
T |
C |
8: 46,974,486 (GRCm39) |
Y320H |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,653,090 (GRCm39) |
S61G |
probably benign |
Het |
| Adamts1 |
G |
A |
16: 85,592,302 (GRCm39) |
T965I |
probably benign |
Het |
| Adcyap1r1 |
T |
A |
6: 55,456,182 (GRCm39) |
M190K |
probably damaging |
Het |
| Ankrd2 |
T |
A |
19: 42,033,358 (GRCm39) |
L300Q |
|
Het |
| Ankrd27 |
A |
T |
7: 35,291,294 (GRCm39) |
Q30L |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,305,798 (GRCm39) |
I114K |
probably damaging |
Het |
| Atrn |
A |
T |
2: 130,786,809 (GRCm39) |
I205F |
probably damaging |
Het |
| BC035947 |
A |
G |
1: 78,488,561 (GRCm39) |
|
probably benign |
Het |
| Boc |
C |
T |
16: 44,311,692 (GRCm39) |
R677H |
|
Het |
| Calhm6 |
A |
G |
10: 34,003,643 (GRCm39) |
F88S |
probably benign |
Het |
| Ccdc121rt3 |
T |
A |
5: 112,502,939 (GRCm39) |
E255V |
probably benign |
Het |
| Dpysl3 |
G |
T |
18: 43,462,922 (GRCm39) |
T485K |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,194,038 (GRCm39) |
D867G |
possibly damaging |
Het |
| Fam178b |
G |
A |
1: 36,603,517 (GRCm39) |
T478I |
probably damaging |
Het |
| Foxd2 |
G |
T |
4: 114,764,850 (GRCm39) |
T390K |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,040,645 (GRCm39) |
V731A |
probably benign |
Het |
| Grin2a |
T |
A |
16: 9,471,466 (GRCm39) |
I601F |
possibly damaging |
Het |
| Hat1 |
G |
A |
2: 71,250,959 (GRCm39) |
R169Q |
possibly damaging |
Het |
| Ighe |
G |
C |
12: 113,236,851 (GRCm39) |
Q6E |
|
Het |
| Ighv8-2 |
T |
C |
12: 114,426,179 (GRCm39) |
I31V |
probably benign |
Het |
| Klk1 |
A |
G |
7: 43,878,104 (GRCm39) |
D120G |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,702,982 (GRCm39) |
D1054G |
probably benign |
Het |
| Lamp5 |
A |
T |
2: 135,910,998 (GRCm39) |
I244F |
probably damaging |
Het |
| Maco1 |
A |
T |
4: 134,557,993 (GRCm39) |
Y173* |
probably null |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mfsd4b1 |
T |
C |
10: 39,878,865 (GRCm39) |
E344G |
probably damaging |
Het |
| Mns1 |
A |
G |
9: 72,346,556 (GRCm39) |
K13R |
probably benign |
Het |
| Mrpl43 |
C |
T |
19: 44,994,346 (GRCm39) |
S91N |
probably benign |
Het |
| Nelfb |
A |
T |
2: 25,095,145 (GRCm39) |
V348D |
probably damaging |
Het |
| Or1l8 |
T |
A |
2: 36,817,416 (GRCm39) |
K237* |
probably null |
Het |
| Or5p72 |
A |
T |
7: 108,021,924 (GRCm39) |
I49F |
probably benign |
Het |
| Or7g20 |
C |
T |
9: 18,947,241 (GRCm39) |
A274V |
possibly damaging |
Het |
| Or8k18 |
G |
A |
2: 86,085,428 (GRCm39) |
S203L |
probably benign |
Het |
| Or8s8 |
T |
C |
15: 98,354,713 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,140,009 (GRCm39) |
I324T |
possibly damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,660,655 (GRCm39) |
L770* |
probably null |
Het |
| Pik3c2b |
T |
A |
1: 133,019,338 (GRCm39) |
F1029I |
possibly damaging |
Het |
| Rfx2 |
A |
T |
17: 57,087,890 (GRCm39) |
S500R |
probably benign |
Het |
| Sarm1 |
T |
C |
11: 78,365,743 (GRCm39) |
M761V |
probably benign |
Het |
| Serpina1a |
A |
G |
12: 103,822,140 (GRCm39) |
L264P |
possibly damaging |
Het |
| Slc37a1 |
G |
T |
17: 31,556,965 (GRCm39) |
G377V |
probably damaging |
Het |
| Slc38a4 |
T |
A |
15: 96,906,378 (GRCm39) |
M364L |
probably damaging |
Het |
| Slc7a15 |
A |
G |
12: 8,580,280 (GRCm39) |
F384S |
probably benign |
Het |
| Smyd4 |
T |
C |
11: 75,281,625 (GRCm39) |
V366A |
probably benign |
Het |
| Spata31d1b |
T |
A |
13: 59,866,155 (GRCm39) |
V1101D |
possibly damaging |
Het |
| Spata31d1e |
C |
T |
13: 59,890,498 (GRCm39) |
D441N |
possibly damaging |
Het |
| Stab2 |
C |
A |
10: 86,757,997 (GRCm39) |
M1090I |
probably benign |
Het |
| Tex15 |
C |
T |
8: 34,062,457 (GRCm39) |
T903I |
probably damaging |
Het |
| Tgds |
A |
T |
14: 118,368,049 (GRCm39) |
Y41* |
probably null |
Het |
| Tle4 |
G |
T |
19: 14,495,304 (GRCm39) |
H142N |
probably benign |
Het |
| Tlx2 |
T |
C |
6: 83,046,274 (GRCm39) |
|
probably null |
Het |
| Tmem151a |
C |
G |
19: 5,131,869 (GRCm39) |
A446P |
probably damaging |
Het |
| Tmem205 |
A |
T |
9: 21,832,496 (GRCm39) |
D138E |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,734,042 (GRCm39) |
K1009E |
unknown |
Het |
| Tnk2 |
T |
A |
16: 32,498,875 (GRCm39) |
C729* |
probably null |
Het |
| Trim46 |
T |
A |
3: 89,142,399 (GRCm39) |
D696V |
probably damaging |
Het |
| Tuba3b |
G |
A |
6: 145,564,482 (GRCm39) |
R84Q |
probably benign |
Het |
| Unc119b |
C |
T |
5: 115,263,521 (GRCm39) |
D228N |
probably damaging |
Het |
| Usp17la |
A |
G |
7: 104,510,864 (GRCm39) |
T490A |
probably benign |
Het |
| Zfp267 |
T |
A |
3: 36,219,853 (GRCm39) |
C625* |
probably null |
Het |
| Zfp687 |
C |
T |
3: 94,919,768 (GRCm39) |
M1I |
probably null |
Het |
| Zfp729a |
T |
C |
13: 67,768,628 (GRCm39) |
T534A |
possibly damaging |
Het |
| Zfp985 |
A |
T |
4: 147,668,047 (GRCm39) |
H305L |
probably benign |
Het |
| Zscan10 |
C |
T |
17: 23,828,330 (GRCm39) |
Q291* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGATTTGATTTCAACGCTC -3'
(R):5'- TCAGCAGCATAAAAGTCTGAGGC -3'
Sequencing Primer
(F):5'- GGATTTGATTTCAACGCTCTTTTC -3'
(R):5'- TCTGAGGCAGACATGAAAGGAAATCC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation