Incidental Mutation 'R9215:Mtbp'
| ID |
699158 |
| 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 # |
R9215 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
55420804-55489819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55484035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 828
(V828A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022998]
[ENSMUST00000169667]
|
| AlphaFold |
Q8BJS8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022998
AA Change: V828A
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022998
Gene: ENSMUSG00000022369
AA Change: V828A
| 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 |
possibly damaging
Transcript: ENSMUST00000169667
AA Change: V455A
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128615
Gene: ENSMUSG00000022369
AA Change: V455A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (69/69) |
| 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 |
|---|
| Amigo3 |
G |
A |
9: 107,931,638 (GRCm39) |
A354T |
probably damaging |
Het |
| Ano1 |
A |
G |
7: 144,149,342 (GRCm39) |
S840P |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,049,214 (GRCm39) |
Q923R |
probably benign |
Het |
| Blk |
T |
C |
14: 63,610,999 (GRCm39) |
M448V |
probably damaging |
Het |
| Calhm2 |
C |
A |
19: 47,121,305 (GRCm39) |
R288L |
possibly damaging |
Het |
| Card11 |
A |
T |
5: 140,866,154 (GRCm39) |
M913K |
possibly damaging |
Het |
| Carf |
A |
C |
1: 60,189,804 (GRCm39) |
E676D |
possibly damaging |
Het |
| Ccn5 |
T |
A |
2: 163,670,966 (GRCm39) |
C158S |
probably damaging |
Het |
| Ccr2 |
A |
G |
9: 123,906,023 (GRCm39) |
D101G |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,123,826 (GRCm39) |
R532G |
possibly damaging |
Het |
| Clec1a |
T |
C |
6: 129,412,134 (GRCm39) |
T112A |
possibly damaging |
Het |
| Clint1 |
T |
C |
11: 45,774,578 (GRCm39) |
V28A |
probably damaging |
Het |
| Col13a1 |
C |
A |
10: 61,685,990 (GRCm39) |
|
probably null |
Het |
| Cryz |
G |
T |
3: 154,324,446 (GRCm39) |
V216F |
probably benign |
Het |
| Cyp1a1 |
G |
A |
9: 57,609,456 (GRCm39) |
V386I |
probably benign |
Het |
| Cyp2c54 |
G |
A |
19: 40,035,950 (GRCm39) |
T320I |
possibly damaging |
Het |
| Dock7 |
G |
C |
4: 98,859,088 (GRCm39) |
N1431K |
unknown |
Het |
| Fam110c |
G |
T |
12: 31,123,863 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,209,747 (GRCm39) |
C1045S |
probably damaging |
Het |
| Fbxo30 |
G |
A |
10: 11,167,243 (GRCm39) |
R655H |
probably damaging |
Het |
| Fhip1b |
A |
G |
7: 105,034,296 (GRCm39) |
L445P |
possibly damaging |
Het |
| Gbp2 |
T |
C |
3: 142,338,036 (GRCm39) |
|
probably null |
Het |
| Hmgcll1 |
A |
G |
9: 75,982,083 (GRCm39) |
D176G |
probably benign |
Het |
| Inafm1 |
A |
T |
7: 16,007,055 (GRCm39) |
I54N |
probably damaging |
Het |
| Ipo9 |
C |
G |
1: 135,347,033 (GRCm39) |
M152I |
probably benign |
Het |
| Khdrbs3 |
C |
T |
15: 68,964,798 (GRCm39) |
T333M |
probably damaging |
Het |
| Lefty2 |
A |
G |
1: 180,725,145 (GRCm39) |
T292A |
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,311,085 (GRCm39) |
E237G |
probably damaging |
Het |
| Lrig2 |
T |
A |
3: 104,398,324 (GRCm39) |
E268D |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,834,628 (GRCm39) |
L602Q |
possibly damaging |
Het |
| Ncapd3 |
C |
A |
9: 26,975,386 (GRCm39) |
Q812K |
possibly damaging |
Het |
| Nlrx1 |
T |
C |
9: 44,165,325 (GRCm39) |
K857R |
probably benign |
Het |
| Or2b28 |
C |
T |
13: 21,532,004 (GRCm39) |
A302V |
probably damaging |
Het |
| Or4d6 |
A |
T |
19: 12,086,016 (GRCm39) |
M72K |
probably damaging |
Het |
| Or4k1 |
T |
C |
14: 50,377,829 (GRCm39) |
Y89C |
probably benign |
Het |
| Or8b1c |
C |
T |
9: 38,384,694 (GRCm39) |
S217F |
probably damaging |
Het |
| P4ha2 |
T |
C |
11: 54,017,226 (GRCm39) |
F456L |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,709,595 (GRCm39) |
V180E |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 62,203,344 (GRCm39) |
D424G |
probably damaging |
Het |
| Pecam1 |
A |
G |
11: 106,579,797 (GRCm39) |
S422P |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,216,677 (GRCm39) |
V296E |
probably damaging |
Het |
| Plekha5 |
T |
A |
6: 140,501,733 (GRCm39) |
S640R |
possibly damaging |
Het |
| Prdx2 |
A |
G |
8: 85,697,932 (GRCm39) |
K92E |
possibly damaging |
Het |
| Prl7c1 |
C |
T |
13: 27,960,204 (GRCm39) |
E113K |
probably benign |
Het |
| Pxylp1 |
A |
T |
9: 96,707,111 (GRCm39) |
V357D |
possibly damaging |
Het |
| Rbm12b2 |
T |
C |
4: 12,095,471 (GRCm39) |
F777L |
probably damaging |
Het |
| Rbm4b |
G |
T |
19: 4,812,268 (GRCm39) |
V226F |
possibly damaging |
Het |
| Rel |
T |
C |
11: 23,698,870 (GRCm39) |
D139G |
probably benign |
Het |
| Rnf214 |
C |
T |
9: 45,816,129 (GRCm39) |
D28N |
probably benign |
Het |
| Slc26a5 |
A |
G |
5: 22,042,285 (GRCm39) |
S224P |
possibly damaging |
Het |
| Slc39a6 |
C |
T |
18: 24,732,323 (GRCm39) |
A322T |
probably benign |
Het |
| Slc47a1 |
T |
C |
11: 61,262,647 (GRCm39) |
I81V |
probably benign |
Het |
| Smad5 |
T |
A |
13: 56,880,815 (GRCm39) |
C310S |
probably damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,240,701 (GRCm39) |
D241G |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,721,994 (GRCm39) |
Q172* |
probably null |
Het |
| Spata31d1d |
G |
T |
13: 59,875,823 (GRCm39) |
Q571K |
probably benign |
Het |
| Speer1e |
A |
T |
5: 11,236,449 (GRCm39) |
I161F |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,440,869 (GRCm39) |
R1777H |
possibly damaging |
Het |
| Stt3b |
A |
T |
9: 115,085,223 (GRCm39) |
F381I |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,962,595 (GRCm39) |
Y1194C |
probably benign |
Het |
| Tmem132b |
T |
C |
5: 125,864,180 (GRCm39) |
I762T |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,891,564 (GRCm39) |
T636A |
unknown |
Het |
| Trat1 |
T |
A |
16: 48,574,637 (GRCm39) |
R54* |
probably null |
Het |
| Tubb4a |
A |
T |
17: 57,387,769 (GRCm39) |
V419E |
probably damaging |
Het |
| Txn2 |
A |
T |
15: 77,803,965 (GRCm39) |
W84R |
unknown |
Het |
| Uggt2 |
A |
G |
14: 119,279,006 (GRCm39) |
Y834H |
probably damaging |
Het |
| Upp2 |
T |
C |
2: 58,670,065 (GRCm39) |
L257P |
probably damaging |
Het |
| Vmn2r67 |
C |
T |
7: 84,802,008 (GRCm39) |
V98I |
probably benign |
Het |
| Zfp354c |
T |
C |
11: 50,706,666 (GRCm39) |
I136M |
probably benign |
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 |
|
R9786:Mtbp
|
UTSW |
15 |
55,481,032 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGAGCATGGAGGTGTCAC -3'
(R):5'- TTTAAAGTGGCCTGGCAGCAAG -3'
Sequencing Primer
(F):5'- CATGGAGGTGTCACAGGCTG -3'
(R):5'- GCCTGGCAGCAAGTGTAAAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation