Incidental Mutation 'IGL00799:Mtbp'
ID12114
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mtbp
Ensembl Gene ENSMUSG00000022369
Gene NameMdm2, transformed 3T3 cell double minute p53 binding protein
SynonymsMDM2BP
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00799
Quality Score
Status
Chromosome15
Chromosomal Location55557408-55626423 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 55617508 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 290 (L290*)
Ref Sequence ENSEMBL: ENSMUSP00000128615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022998] [ENSMUST00000169667]
Predicted Effect probably null
Transcript: ENSMUST00000022998
AA Change: L663*
SMART Domains Protein: ENSMUSP00000022998
Gene: ENSMUSG00000022369
AA Change: L663*

DomainStartEndE-ValueType
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: ENSMUST00000166449
Predicted Effect probably null
Transcript: ENSMUST00000169667
AA Change: L290*
SMART Domains Protein: ENSMUSP00000128615
Gene: ENSMUSG00000022369
AA Change: L290*

DomainStartEndE-ValueType
Pfam:MTBP_mid 1 253 2.3e-119 PFAM
Pfam:MTBP_C 257 511 2.5e-129 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171146
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI314180 T A 4: 58,828,047 I981F possibly damaging Het
Boc G T 16: 44,492,955 D515E probably benign Het
Cenpe T A 3: 135,228,917 probably null Het
Ctcf A G 8: 105,677,336 D608G unknown Het
Dab2ip A G 2: 35,707,775 I99V probably benign Het
Ehd2 C T 7: 15,963,467 A139T possibly damaging Het
Fam151b C A 13: 92,477,853 K42N probably damaging Het
Gapvd1 A T 2: 34,699,860 D1002E probably benign Het
Gm13124 A T 4: 144,555,273 H316Q probably benign Het
Gusb T C 5: 129,999,381 Y290C probably damaging Het
Hoxd10 A G 2: 74,692,442 S155G probably benign Het
Hp A G 8: 109,575,618 probably null Het
Ift122 T C 6: 115,877,536 S112P probably damaging Het
Iqgap2 A G 13: 95,657,944 probably benign Het
Nr5a2 T A 1: 136,890,798 D330V probably damaging Het
R3hdm1 T A 1: 128,174,963 L157Q probably damaging Het
Rad21 A T 15: 51,976,125 D116E possibly damaging Het
Slc23a3 A T 1: 75,133,281 I114N possibly damaging Het
Syne1 A G 10: 5,347,878 I1140L probably benign Het
Other mutations in Mtbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00988:Mtbp APN 15 55558498 unclassified probably benign
IGL01608:Mtbp APN 15 55557689 nonsense probably null
IGL02422:Mtbp APN 15 55563043 missense possibly damaging 0.59
IGL02664:Mtbp APN 15 55619643 missense probably benign 0.01
IGL03160:Mtbp APN 15 55620617 splice site probably benign
R0008:Mtbp UTSW 15 55586493 splice site probably benign
R0008:Mtbp UTSW 15 55586493 splice site probably benign
R0242:Mtbp UTSW 15 55577486 missense possibly damaging 0.60
R0242:Mtbp UTSW 15 55577486 missense possibly damaging 0.60
R0280:Mtbp UTSW 15 55586461 missense probably benign 0.04
R0302:Mtbp UTSW 15 55625424 missense probably damaging 0.99
R0387:Mtbp UTSW 15 55611029 missense possibly damaging 0.82
R0402:Mtbp UTSW 15 55569070 nonsense probably null
R0648:Mtbp UTSW 15 55603201 missense probably benign
R0735:Mtbp UTSW 15 55562942 nonsense probably null
R0845:Mtbp UTSW 15 55563090 critical splice donor site probably null
R1186:Mtbp UTSW 15 55564671 missense probably null 1.00
R1398:Mtbp UTSW 15 55577537 nonsense probably null
R1500:Mtbp UTSW 15 55617555 missense probably damaging 0.99
R1712:Mtbp UTSW 15 55571294 critical splice acceptor site probably null
R1893:Mtbp UTSW 15 55557668 missense probably benign 0.37
R1902:Mtbp UTSW 15 55606715 missense probably damaging 0.99
R1917:Mtbp UTSW 15 55564677 splice site probably benign
R2267:Mtbp UTSW 15 55569160 critical splice donor site probably null
R2268:Mtbp UTSW 15 55569160 critical splice donor site probably null
R2269:Mtbp UTSW 15 55569160 critical splice donor site probably null
R2383:Mtbp UTSW 15 55566194 missense probably damaging 1.00
R2512:Mtbp UTSW 15 55577536 missense probably damaging 0.98
R2924:Mtbp UTSW 15 55619814 missense probably benign 0.21
R2925:Mtbp UTSW 15 55619814 missense probably benign 0.21
R4164:Mtbp UTSW 15 55609521 missense probably benign
R4232:Mtbp UTSW 15 55620677 nonsense probably null
R4255:Mtbp UTSW 15 55620685 missense possibly damaging 0.66
R4438:Mtbp UTSW 15 55603215 missense probably benign 0.41
R5009:Mtbp UTSW 15 55603187 missense probably benign
R5132:Mtbp UTSW 15 55558569 missense possibly damaging 0.92
R5685:Mtbp UTSW 15 55562772 missense probably damaging 1.00
R5933:Mtbp UTSW 15 55571327 missense possibly damaging 0.92
R6377:Mtbp UTSW 15 55557620 start codon destroyed probably null 0.32
R6554:Mtbp UTSW 15 55567249 missense probably damaging 0.99
R6811:Mtbp UTSW 15 55606546 intron probably null
R6942:Mtbp UTSW 15 55567200 missense probably damaging 0.99
R7134:Mtbp UTSW 15 55558565 missense probably benign 0.00
R7374:Mtbp UTSW 15 55562959 missense possibly damaging 0.95
R7397:Mtbp UTSW 15 55569151 missense probably benign 0.06
Posted On2012-12-06