Incidental Mutation 'R4232:Mtbp'
ID 371121
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 041051-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4232 (G1)
Quality Score 217
Status Validated
Chromosome 15
Chromosomal Location 55420804-55489819 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) CATGA to CATGAATGA at 55484073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022998] [ENSMUST00000169667]
AlphaFold Q8BJS8
Predicted Effect probably null
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 noncoding transcript
Transcript: ENSMUST00000166449
Predicted Effect probably null
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 noncoding transcript
Transcript: ENSMUST00000171146
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 92% (58/63)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930567H17Rik C T X: 69,438,135 (GRCm39) A53T probably benign Het
Ajuba T C 14: 54,806,983 (GRCm39) R490G probably damaging Het
Akap6 T A 12: 53,186,454 (GRCm39) N1289K probably damaging Het
Arhgap21 A G 2: 20,891,948 (GRCm39) V161A probably damaging Het
Atg14 T C 14: 47,788,802 (GRCm39) K184E probably benign Het
Aven A G 2: 112,458,113 (GRCm39) D167G probably damaging Het
Celsr2 A G 3: 108,321,088 (GRCm39) F575L probably benign Het
Cflar A T 1: 58,780,152 (GRCm39) Q249L possibly damaging Het
Col7a1 G A 9: 108,801,881 (GRCm39) probably null Het
Dmxl2 T C 9: 54,327,193 (GRCm39) D944G possibly damaging Het
Dnah1 T C 14: 31,026,873 (GRCm39) N717S probably benign Het
Dnaja3 T A 16: 4,517,735 (GRCm39) N322K possibly damaging Het
Dnajb3 A G 1: 88,132,974 (GRCm39) S143P possibly damaging Het
Dtx3 A G 10: 127,029,058 (GRCm39) I60T possibly damaging Het
Dvl3 A G 16: 20,342,983 (GRCm39) probably benign Het
Fkbp7 A T 2: 76,493,661 (GRCm39) D177E possibly damaging Het
Galnt7 T C 8: 58,106,000 (GRCm39) I5V probably benign Het
Garin3 C A 11: 46,298,232 (GRCm39) T512K possibly damaging Het
Helz2 A T 2: 180,871,695 (GRCm39) L2639Q probably damaging Het
Hnrnpr T C 4: 136,066,500 (GRCm39) M394T probably benign Het
Ip6k2 G A 9: 108,682,847 (GRCm39) R319Q probably benign Het
Kif14 T A 1: 136,444,101 (GRCm39) C1364* probably null Het
Macf1 T C 4: 123,326,185 (GRCm39) E5104G probably damaging Het
Mrps30 T C 13: 118,523,376 (GRCm39) D132G probably damaging Het
Mrtfa T A 15: 80,907,796 (GRCm39) K29M probably damaging Het
Nfkb1 A G 3: 135,309,531 (GRCm39) V521A probably damaging Het
Or2b7 T C 13: 21,739,631 (GRCm39) D187G probably damaging Het
Or7g32 G T 9: 19,389,022 (GRCm39) L175M probably damaging Het
P2rx6 T C 16: 17,388,631 (GRCm39) L335P probably damaging Het
Pcdhga5 A G 18: 37,829,001 (GRCm39) D483G possibly damaging Het
Pgpep1l T C 7: 67,886,827 (GRCm39) T161A probably benign Het
Prss40 A G 1: 34,599,873 (GRCm39) V38A probably benign Het
Ptk2 C A 15: 73,181,698 (GRCm39) R104L possibly damaging Het
Ralgapa1 C T 12: 55,687,429 (GRCm39) R2019Q probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rtp4 A G 16: 23,431,833 (GRCm39) N122D possibly damaging Het
Samd8 A G 14: 21,830,213 (GRCm39) Y213C probably benign Het
Shcbp1 T A 8: 4,786,372 (GRCm39) T577S probably benign Het
Tiprl A G 1: 165,050,156 (GRCm39) V153A probably damaging Het
Tmprss7 A T 16: 45,476,936 (GRCm39) D775E probably damaging Het
Tnr T C 1: 159,713,785 (GRCm39) S738P possibly damaging Het
Tsc22d4 T C 5: 137,749,632 (GRCm39) probably null Het
Ttc21a A T 9: 119,771,684 (GRCm39) H161L probably benign Het
Ubqln3 T A 7: 103,791,010 (GRCm39) E360V probably benign Het
Ugt1a10 C A 1: 87,983,932 (GRCm39) D243E probably benign Het
Vmn2r19 G A 6: 123,306,871 (GRCm39) V460I probably benign Het
Vmn2r58 T A 7: 41,487,011 (GRCm39) Y628F possibly damaging Het
Wnk1 A T 6: 119,926,222 (GRCm39) S1588T possibly damaging Het
Wscd2 A G 5: 113,699,045 (GRCm39) D200G probably benign Het
Zfp831 G C 2: 174,547,447 (GRCm39) W1543C 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
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
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
Predicted Primers PCR Primer
(F):5'- TGAGCATGGAGGTGTCACAG -3'
(R):5'- TCGTTTAAAGTGGCCTGGC -3'

Sequencing Primer
(F):5'- ATGGAGGTGTCACAGGCTGC -3'
(R):5'- TTTAAAGTGGCCTGGCAGCAAG -3'
Posted On 2016-02-22