Incidental Mutation 'R0008:Mtbp'
ID 7982
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 038303-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0008 (G1)
Quality Score
Status Validated
Chromosome 15
Chromosomal Location 55420804-55489819 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 55449889 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 benign
Transcript: ENSMUST00000022998
SMART Domains Protein: ENSMUSP00000022998
Gene: ENSMUSG00000022369

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 probably benign
Transcript: ENSMUST00000169667
SMART Domains Protein: ENSMUSP00000128615
Gene: ENSMUSG00000022369

DomainStartEndE-ValueType
Pfam:MTBP_mid 1 253 2.3e-119 PFAM
Pfam:MTBP_C 257 511 2.5e-129 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170046
SMART Domains Protein: ENSMUSP00000129396
Gene: ENSMUSG00000022369

DomainStartEndE-ValueType
Pfam:MTBP_N 1 276 3.4e-145 PFAM
Pfam:MTBP_mid 286 626 3.1e-171 PFAM
Coding Region Coverage
  • 1x: 81.0%
  • 3x: 72.4%
  • 10x: 49.2%
  • 20x: 28.4%
Validation Efficiency 90% (82/91)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,882,346 (GRCm39) K118R possibly damaging Het
Afap1l1 A G 18: 61,889,976 (GRCm39) S87P probably benign Het
Ankrd27 A G 7: 35,303,125 (GRCm39) K196R probably benign Het
Arrdc3 T A 13: 81,039,194 (GRCm39) I75N probably damaging Het
Calcrl T C 2: 84,203,618 (GRCm39) D54G probably benign Het
Cnot1 G T 8: 96,487,969 (GRCm39) D562E probably damaging Het
Cp T A 3: 20,022,287 (GRCm39) Y230N probably damaging Het
Dclre1c T C 2: 3,439,032 (GRCm39) V64A probably damaging Het
Fat2 A T 11: 55,202,075 (GRCm39) L333H probably damaging Het
Hoxc11 T C 15: 102,863,397 (GRCm39) V146A probably damaging Het
Il11 T C 7: 4,776,658 (GRCm39) S111G probably benign Het
Ist1 A T 8: 110,403,418 (GRCm39) I273K probably benign Het
Lrp2 T A 2: 69,346,895 (GRCm39) N784Y probably benign Het
Lrp6 T C 6: 134,462,716 (GRCm39) E648G probably damaging Het
Nat9 A T 11: 115,075,941 (GRCm39) Y27N probably damaging Het
Nipsnap3b T A 4: 53,015,112 (GRCm39) L53Q probably damaging Het
Nlrp3 A T 11: 59,449,274 (GRCm39) H852L probably benign Het
Pax9 A G 12: 56,756,528 (GRCm39) T289A probably benign Het
Pcyt2 A T 11: 120,506,695 (GRCm39) I53N possibly damaging Het
Pdzph1 T A 17: 59,229,756 (GRCm39) probably benign Het
Plekhm2 C T 4: 141,369,704 (GRCm39) probably benign Het
Ppt1 T C 4: 122,742,216 (GRCm39) probably benign Het
Prep T C 10: 44,991,174 (GRCm39) V280A probably benign Het
Proser3 G A 7: 30,239,563 (GRCm39) R514C probably damaging Het
Rbm45 T C 2: 76,208,742 (GRCm39) Y293H probably damaging Het
Sdk2 A G 11: 113,747,581 (GRCm39) L643P probably damaging Het
Slc1a1 G A 19: 28,878,884 (GRCm39) G208S probably benign Het
Slc35b4 A T 6: 34,135,452 (GRCm39) Y287N probably damaging Het
Srgap2 T C 1: 131,283,302 (GRCm39) T260A probably damaging Het
Taf5 A G 19: 47,064,301 (GRCm39) S415G possibly damaging Het
Tdp2 T G 13: 25,025,333 (GRCm39) probably null Het
Tnrc6a G A 7: 122,769,617 (GRCm39) R469H probably benign Het
Tox T A 4: 6,842,411 (GRCm39) M40L probably benign Het
Trib2 A T 12: 15,859,930 (GRCm39) H110Q probably benign Het
Trpa1 A G 1: 14,973,439 (GRCm39) I293T possibly damaging Het
Wdr93 A G 7: 79,408,221 (GRCm39) E234G probably damaging Het
Zfp385b A T 2: 77,246,291 (GRCm39) S245R probably benign Het
Zfyve9 T A 4: 108,575,902 (GRCm39) E393V possibly damaging Het
Other mutations in Mtbp
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2012-11-20