Incidental Mutation 'IGL01608:Mtbp'
| ID |
91866 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtbp
|
| Ensembl Gene |
ENSMUSG00000022369 |
| Gene Name |
Mdm2, transformed 3T3 cell double minute p53 binding protein |
| Synonyms |
MDM2BP |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01608
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
55420804-55489819 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 55421085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 24
(E24*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129396
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022998]
[ENSMUST00000164542]
[ENSMUST00000170046]
[ENSMUST00000172387]
|
| AlphaFold |
Q8BJS8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022998
AA Change: E24*
|
| SMART Domains |
Protein: ENSMUSP00000022998
Gene: ENSMUSG00000022369
AA Change: E24*
| 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 |
noncoding transcript
Transcript: ENSMUST00000107207
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164542
|
| SMART Domains |
Protein: ENSMUSP00000127456
Gene: ENSMUSG00000022370
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L13
|
18 |
55 |
2.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169517
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170046
AA Change: E24*
|
| SMART Domains |
Protein: ENSMUSP00000129396
Gene: ENSMUSG00000022369
AA Change: E24*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MTBP_N
|
1 |
276 |
3.4e-145 |
PFAM |
|
Pfam:MTBP_mid
|
286 |
626 |
3.1e-171 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170135
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172387
|
| SMART Domains |
Protein: ENSMUSP00000130722
Gene: ENSMUSG00000022370
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ribosomal_L13
|
17 |
141 |
2.8e-47 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
T |
4: 53,038,158 (GRCm39) |
L2068Q |
probably damaging |
Het |
| Abca12 |
G |
T |
1: 71,298,601 (GRCm39) |
D2340E |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,092,535 (GRCm39) |
Y632C |
probably damaging |
Het |
| Adgrb3 |
A |
G |
1: 25,592,855 (GRCm39) |
S311P |
probably damaging |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Atf2 |
G |
T |
2: 73,649,422 (GRCm39) |
H396Q |
probably damaging |
Het |
| Atp8a1 |
G |
A |
5: 67,970,479 (GRCm39) |
R74* |
probably null |
Het |
| Brpf3 |
T |
C |
17: 29,040,491 (GRCm39) |
S971P |
probably benign |
Het |
| Btn1a1 |
T |
C |
13: 23,645,778 (GRCm39) |
E197G |
probably benign |
Het |
| Ccdc136 |
C |
T |
6: 29,406,113 (GRCm39) |
A87V |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,630,560 (GRCm39) |
L376P |
probably damaging |
Het |
| Chrm3 |
G |
A |
13: 9,928,634 (GRCm39) |
A134V |
possibly damaging |
Het |
| Col19a1 |
G |
A |
1: 24,321,626 (GRCm39) |
R961C |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,837,528 (GRCm39) |
V1190A |
possibly damaging |
Het |
| Dop1a |
T |
A |
9: 86,389,614 (GRCm39) |
S515T |
probably benign |
Het |
| Eprs1 |
T |
A |
1: 185,117,311 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
G |
T |
18: 58,186,776 (GRCm39) |
Y1708* |
probably null |
Het |
| Glt1d1 |
A |
G |
5: 127,741,746 (GRCm39) |
N148S |
possibly damaging |
Het |
| Gm20425 |
T |
A |
9: 103,068,293 (GRCm39) |
I44F |
probably damaging |
Het |
| Gpr22 |
T |
A |
12: 31,758,779 (GRCm39) |
K411* |
probably null |
Het |
| Ipo11 |
A |
G |
13: 106,971,002 (GRCm39) |
|
probably benign |
Het |
| Klri1 |
T |
A |
6: 129,675,130 (GRCm39) |
N210I |
possibly damaging |
Het |
| Kmt2c |
C |
T |
5: 25,559,809 (GRCm39) |
V950M |
probably damaging |
Het |
| Knop1 |
T |
C |
7: 118,445,019 (GRCm39) |
K315R |
probably benign |
Het |
| Krt90 |
A |
G |
15: 101,471,064 (GRCm39) |
I66T |
probably benign |
Het |
| Lrrc32 |
T |
A |
7: 98,148,564 (GRCm39) |
V448D |
probably benign |
Het |
| Met |
T |
C |
6: 17,558,729 (GRCm39) |
V1119A |
probably damaging |
Het |
| Minar1 |
T |
C |
9: 89,478,551 (GRCm39) |
T832A |
probably benign |
Het |
| Mipep |
T |
A |
14: 61,039,679 (GRCm39) |
I236N |
possibly damaging |
Het |
| Mrpl45 |
A |
G |
11: 97,207,747 (GRCm39) |
T81A |
probably benign |
Het |
| Muc5b |
C |
T |
7: 141,400,174 (GRCm39) |
T476I |
unknown |
Het |
| Mup6 |
C |
T |
4: 60,006,021 (GRCm39) |
T163I |
probably benign |
Het |
| Myo1g |
T |
A |
11: 6,466,780 (GRCm39) |
I278F |
possibly damaging |
Het |
| Myo9a |
A |
T |
9: 59,778,119 (GRCm39) |
K1292* |
probably null |
Het |
| Nbeal1 |
T |
A |
1: 60,281,694 (GRCm39) |
|
probably benign |
Het |
| Nck1 |
C |
A |
9: 100,379,440 (GRCm39) |
R270S |
probably benign |
Het |
| Neb |
T |
C |
2: 52,060,548 (GRCm39) |
E6035G |
probably damaging |
Het |
| Nlrp4f |
A |
C |
13: 65,343,357 (GRCm39) |
L96* |
probably null |
Het |
| Or11g1 |
A |
T |
14: 50,651,910 (GRCm39) |
H303L |
probably benign |
Het |
| Or4a77 |
A |
T |
2: 89,486,835 (GRCm39) |
|
probably benign |
Het |
| Or51l14 |
A |
T |
7: 103,101,011 (GRCm39) |
I156F |
probably benign |
Het |
| Or5t18 |
A |
C |
2: 86,636,769 (GRCm39) |
Y191* |
probably null |
Het |
| Padi2 |
A |
G |
4: 140,659,541 (GRCm39) |
E282G |
probably damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,441,803 (GRCm39) |
D371G |
probably damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,489,978 (GRCm39) |
D552G |
probably damaging |
Het |
| Peli3 |
A |
G |
19: 4,982,855 (GRCm39) |
I270T |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,118,516 (GRCm39) |
M407V |
probably benign |
Het |
| Ppm1h |
C |
T |
10: 122,777,185 (GRCm39) |
R103* |
probably null |
Het |
| Rangap1 |
C |
T |
15: 81,593,705 (GRCm39) |
V457M |
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,442,461 (GRCm39) |
V257A |
probably benign |
Het |
| Shc1 |
C |
A |
3: 89,332,156 (GRCm39) |
Q204K |
probably damaging |
Het |
| Slc6a4 |
T |
A |
11: 76,917,961 (GRCm39) |
Y568N |
probably damaging |
Het |
| Srgap3 |
A |
G |
6: 112,923,439 (GRCm39) |
F7L |
probably benign |
Het |
| St6galnac4 |
T |
A |
2: 32,484,098 (GRCm39) |
C99S |
probably damaging |
Het |
| Strc |
T |
C |
2: 121,206,075 (GRCm39) |
D779G |
probably benign |
Het |
| Supt6 |
A |
T |
11: 78,116,309 (GRCm39) |
Y685N |
probably damaging |
Het |
| Traf3ip3 |
T |
C |
1: 192,869,418 (GRCm39) |
T256A |
probably benign |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,560 (GRCm39) |
I287F |
probably damaging |
Het |
| Zmym2 |
C |
A |
14: 57,185,472 (GRCm39) |
Q1035K |
possibly damaging |
Het |
| Zswim3 |
G |
A |
2: 164,663,440 (GRCm39) |
R640H |
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 |
|
|
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 |
|
R9786:Mtbp
|
UTSW |
15 |
55,481,032 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation