Incidental Mutation 'R5273:Mdm4'
ID 499955
Institutional Source Beutler Lab
Gene Symbol Mdm4
Ensembl Gene ENSMUSG00000054387
Gene Name transformed mouse 3T3 cell double minute 4
Synonyms Mdmx, 4933417N07Rik
MMRRC Submission 042862-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5273 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 132913843-132958325 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 132922320 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 274 (T274M)
Ref Sequence ENSEMBL: ENSMUSP00000140609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067398] [ENSMUST00000067429] [ENSMUST00000185398] [ENSMUST00000186617] [ENSMUST00000188090] [ENSMUST00000191212]
AlphaFold O35618
Predicted Effect probably benign
Transcript: ENSMUST00000067398
AA Change: T275M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068661
Gene: ENSMUSG00000054387
AA Change: T275M

DomainStartEndE-ValueType
Pfam:SWIB 26 96 3.7e-10 PFAM
low complexity region 281 295 N/A INTRINSIC
ZnF_RBZ 302 326 1.65e-2 SMART
RING 437 477 7.26e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000067429
AA Change: T274M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000070411
Gene: ENSMUSG00000054387
AA Change: T274M

DomainStartEndE-ValueType
Pfam:SWIB 26 101 2.5e-17 PFAM
low complexity region 280 294 N/A INTRINSIC
ZnF_RBZ 301 325 1.65e-2 SMART
RING 436 476 7.26e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185398
SMART Domains Protein: ENSMUSP00000140090
Gene: ENSMUSG00000054387

DomainStartEndE-ValueType
Pfam:SWIB 27 102 1.8e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186513
Predicted Effect probably benign
Transcript: ENSMUST00000186617
AA Change: T274M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140812
Gene: ENSMUSG00000054387
AA Change: T274M

DomainStartEndE-ValueType
Pfam:SWIB 26 101 9.9e-15 PFAM
low complexity region 280 294 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188090
AA Change: T274M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000140609
Gene: ENSMUSG00000054387
AA Change: T274M

DomainStartEndE-ValueType
Pfam:SWIB 26 101 2.5e-17 PFAM
low complexity region 280 294 N/A INTRINSIC
ZnF_RBZ 301 325 1.65e-2 SMART
RING 436 476 7.26e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191212
SMART Domains Protein: ENSMUSP00000140006
Gene: ENSMUSG00000054387

DomainStartEndE-ValueType
Pfam:SWIB 27 102 1.4e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190312
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189596
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a protein that has been shown to negatively regulate the activity of the tumor suppressor protein p53. Homozygous knockout mice exhibit embryonic lethality as a result of p53-dependent apoptosis and cell cycle arrest. Amplification of this gene or overexpression of the encoded protein has been linked to a range of human cancers. A pseudogene has been identified on the X chromosome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality, decreased cellular proliferation, and abnormal nervous system development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,832,233 (GRCm39) N799S possibly damaging Het
Arhgap20 A G 9: 51,759,916 (GRCm39) N589S probably damaging Het
Armc10 C T 5: 21,858,426 (GRCm39) A157V possibly damaging Het
Atp2b2 A G 6: 113,736,193 (GRCm39) L958P probably damaging Het
Bhmt2 G A 13: 93,803,086 (GRCm39) A149V possibly damaging Het
Ccdc7a CATCAGCTGATAT CAT 8: 129,788,090 (GRCm39) probably null Het
Cntnap4 A G 8: 113,460,070 (GRCm39) D141G probably damaging Het
Cplane1 T C 15: 8,273,825 (GRCm39) S2603P probably damaging Het
Cplane1 T C 15: 8,292,422 (GRCm39) S3012P unknown Het
Dis3 A G 14: 99,336,242 (GRCm39) V88A probably benign Het
Dnajc21 A T 15: 10,454,893 (GRCm39) C316S probably damaging Het
Dnhd1 A G 7: 105,363,689 (GRCm39) T4084A probably damaging Het
Dock3 A C 9: 106,777,904 (GRCm39) probably null Het
Eml5 T C 12: 98,756,947 (GRCm39) H1894R probably damaging Het
Galc T C 12: 98,218,330 (GRCm39) Y174C probably damaging Het
Gm4841 C T 18: 60,403,815 (GRCm39) V93I probably benign Het
Gm7995 T C 14: 42,133,413 (GRCm39) Y98H probably damaging Het
Gnrhr T A 5: 86,330,105 (GRCm39) H305L possibly damaging Het
Gpr179 A T 11: 97,238,256 (GRCm39) F323I probably damaging Het
Kdm6b G T 11: 69,295,027 (GRCm39) P1080Q unknown Het
Man2a1 C T 17: 65,040,780 (GRCm39) T126I probably damaging Het
Mug1 T A 6: 121,850,748 (GRCm39) V748E probably damaging Het
Nav3 A T 10: 109,528,899 (GRCm39) probably null Het
Nhsl3 T C 4: 129,118,005 (GRCm39) T208A possibly damaging Het
Or8d6 T C 9: 39,853,853 (GRCm39) V99A probably benign Het
Or8g36 A G 9: 39,422,795 (GRCm39) S74P possibly damaging Het
Pcdhb1 T C 18: 37,398,766 (GRCm39) V239A probably benign Het
Ppic T A 18: 53,542,330 (GRCm39) H126L probably damaging Het
Sdk1 T C 5: 141,984,583 (GRCm39) F463L probably damaging Het
Shroom1 A G 11: 53,354,671 (GRCm39) E197G possibly damaging Het
Slc22a14 A G 9: 118,999,704 (GRCm39) S496P probably benign Het
Slc27a1 G A 8: 72,036,900 (GRCm39) G379S probably benign Het
Slco1a5 T C 6: 142,187,824 (GRCm39) E505G probably benign Het
Snrpe A C 1: 133,537,518 (GRCm39) probably benign Het
Sp100 G T 1: 85,636,825 (GRCm39) V299F possibly damaging Het
Stard9 A G 2: 120,535,568 (GRCm39) S3942G possibly damaging Het
Ttn A G 2: 76,644,948 (GRCm39) V12969A probably damaging Het
Txndc11 T C 16: 10,946,487 (GRCm39) Q108R probably benign Het
Wnk4 A T 11: 101,154,695 (GRCm39) I295F probably damaging Het
Other mutations in Mdm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01778:Mdm4 APN 1 132,922,285 (GRCm39) missense probably benign 0.02
IGL03034:Mdm4 APN 1 132,938,809 (GRCm39) missense probably damaging 1.00
IGL03099:Mdm4 APN 1 132,919,947 (GRCm39) missense probably damaging 1.00
Isla_nublar UTSW 1 132,940,430 (GRCm39) missense probably damaging 1.00
Jurassic UTSW 1 132,938,853 (GRCm39) missense probably damaging 0.96
Sun_island UTSW 1 132,940,389 (GRCm39) missense probably damaging 1.00
R0630:Mdm4 UTSW 1 132,919,491 (GRCm39) missense possibly damaging 0.47
R1170:Mdm4 UTSW 1 132,940,430 (GRCm39) missense probably damaging 1.00
R1170:Mdm4 UTSW 1 132,919,558 (GRCm39) missense probably damaging 1.00
R1774:Mdm4 UTSW 1 132,924,384 (GRCm39) missense probably damaging 0.99
R1920:Mdm4 UTSW 1 132,931,538 (GRCm39) missense probably benign 0.06
R2061:Mdm4 UTSW 1 132,940,389 (GRCm39) missense probably damaging 1.00
R2212:Mdm4 UTSW 1 132,922,260 (GRCm39) missense probably damaging 1.00
R3695:Mdm4 UTSW 1 132,919,731 (GRCm39) missense probably benign 0.00
R3919:Mdm4 UTSW 1 132,922,306 (GRCm39) missense possibly damaging 0.94
R5360:Mdm4 UTSW 1 132,919,396 (GRCm39) makesense probably null
R6125:Mdm4 UTSW 1 132,922,248 (GRCm39) missense possibly damaging 0.95
R6153:Mdm4 UTSW 1 132,919,845 (GRCm39) missense probably damaging 1.00
R7028:Mdm4 UTSW 1 132,931,547 (GRCm39) missense probably benign 0.09
R7234:Mdm4 UTSW 1 132,938,853 (GRCm39) missense probably damaging 0.96
R7267:Mdm4 UTSW 1 132,922,311 (GRCm39) missense probably benign 0.00
R8831:Mdm4 UTSW 1 132,931,601 (GRCm39) missense probably benign 0.01
R8932:Mdm4 UTSW 1 132,940,382 (GRCm39) missense probably benign 0.13
R8941:Mdm4 UTSW 1 132,919,671 (GRCm39) missense probably benign 0.00
R9272:Mdm4 UTSW 1 132,929,169 (GRCm39) missense possibly damaging 0.82
R9279:Mdm4 UTSW 1 132,924,416 (GRCm39) missense probably damaging 1.00
R9356:Mdm4 UTSW 1 132,938,837 (GRCm39) missense probably damaging 1.00
Z1088:Mdm4 UTSW 1 132,922,285 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- AGTTGTGTTAGCAGGGACAG -3'
(R):5'- CGTGCACAACATAACATTTCCTG -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- TGCACAACATAACATTTCCTGCATAG -3'
Posted On 2017-11-30