Incidental Mutation 'IGL01778:Mdm4'
ID153757
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mdm4
Ensembl Gene ENSMUSG00000054387
Gene Nametransformed mouse 3T3 cell double minute 4
Synonyms4933417N07Rik, Mdmx
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01778
Quality Score
Status
Chromosome1
Chromosomal Location132959484-133030561 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 132994547 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 286 (S286P)
Ref Sequence ENSEMBL: ENSMUSP00000140609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067398] [ENSMUST00000067429] [ENSMUST00000185398] [ENSMUST00000186617] [ENSMUST00000188090] [ENSMUST00000191212]
Predicted Effect probably benign
Transcript: ENSMUST00000067398
AA Change: S287P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000068661
Gene: ENSMUSG00000054387
AA Change: S287P

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: S286P

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000070411
Gene: ENSMUSG00000054387
AA Change: S286P

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: S286P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000140812
Gene: ENSMUSG00000054387
AA Change: S286P

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: S286P

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000140609
Gene: ENSMUSG00000054387
AA Change: S286P

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 noncoding transcript
Transcript: ENSMUST00000189596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190312
Predicted Effect probably benign
Transcript: ENSMUST00000191212
SMART Domains Protein: ENSMUSP00000140006
Gene: ENSMUSG00000054387

DomainStartEndE-ValueType
Pfam:SWIB 27 102 1.4e-15 PFAM
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 T C 4: 154,666,705 K325E probably benign Het
Arc C T 15: 74,672,355 M6I probably benign Het
Atp7b A T 8: 21,994,828 D1404E probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cdk5rap1 T A 2: 154,366,036 N156I probably damaging Het
Ctsa T C 2: 164,834,310 probably benign Het
Depdc1b T G 13: 108,362,327 N181K probably benign Het
Epg5 T C 18: 78,019,274 V1994A probably damaging Het
Epyc T A 10: 97,681,237 C312* probably null Het
Erv3 T A 2: 131,855,957 R161* probably null Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gfra3 T C 18: 34,691,591 T280A possibly damaging Het
Gldn A T 9: 54,334,492 probably null Het
Gm6768 T C 12: 119,262,496 noncoding transcript Het
Gtf3c4 G A 2: 28,835,088 R211C probably damaging Het
Hsh2d A G 8: 72,193,507 D16G probably damaging Het
Klk15 T A 7: 43,938,838 M190K probably damaging Het
Klri1 A G 6: 129,717,047 S26P possibly damaging Het
Krt78 T A 15: 101,950,967 D265V probably damaging Het
Lgr5 A C 10: 115,462,702 I355S probably damaging Het
Lig3 T A 11: 82,794,541 V595D probably damaging Het
Map2k6 A C 11: 110,512,869 probably benign Het
Olfr320 A G 11: 58,684,269 Y132C probably damaging Het
Pofut1 T A 2: 153,248,528 M114K probably damaging Het
Rdh13 C T 7: 4,430,389 probably null Het
Reg3g T A 6: 78,466,833 I131F probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc8a2 T A 7: 16,158,893 F827I probably damaging Het
Slfn9 A T 11: 82,987,374 C310S probably damaging Het
Sypl A G 12: 32,975,642 Y235C probably damaging Het
Trav7-4 A T 14: 53,461,641 T82S possibly damaging Het
Trim28 T A 7: 13,030,702 V782D probably damaging Het
Ttn G A 2: 76,744,898 T25217M probably damaging Het
Usp6nl A G 2: 6,427,570 T260A possibly damaging Het
Vmn2r54 A T 7: 12,632,082 N308K probably benign Het
Xdh T C 17: 73,900,280 E986G probably benign Het
Zfp770 T C 2: 114,196,238 D450G probably damaging Het
Zw10 T G 9: 49,069,615 S438R probably benign Het
Other mutations in Mdm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03034:Mdm4 APN 1 133011071 missense probably damaging 1.00
IGL03099:Mdm4 APN 1 132992209 missense probably damaging 1.00
Isla_nublar UTSW 1 133012692 missense probably damaging 1.00
Jurassic UTSW 1 133011115 missense probably damaging 0.96
Sun_island UTSW 1 133012651 missense probably damaging 1.00
R0630:Mdm4 UTSW 1 132991753 missense possibly damaging 0.47
R1170:Mdm4 UTSW 1 132991820 missense probably damaging 1.00
R1170:Mdm4 UTSW 1 133012692 missense probably damaging 1.00
R1774:Mdm4 UTSW 1 132996646 missense probably damaging 0.99
R1920:Mdm4 UTSW 1 133003800 missense probably benign 0.06
R2061:Mdm4 UTSW 1 133012651 missense probably damaging 1.00
R2212:Mdm4 UTSW 1 132994522 missense probably damaging 1.00
R3695:Mdm4 UTSW 1 132991993 missense probably benign 0.00
R3919:Mdm4 UTSW 1 132994568 missense possibly damaging 0.94
R5273:Mdm4 UTSW 1 132994582 missense probably benign
R5360:Mdm4 UTSW 1 132991658 makesense probably null
R6125:Mdm4 UTSW 1 132994510 missense possibly damaging 0.95
R6153:Mdm4 UTSW 1 132992107 missense probably damaging 1.00
R7028:Mdm4 UTSW 1 133003809 missense probably benign 0.09
R7234:Mdm4 UTSW 1 133011115 missense probably damaging 0.96
R7267:Mdm4 UTSW 1 132994573 missense probably benign 0.00
Z1088:Mdm4 UTSW 1 132994547 missense probably benign 0.02
Posted On2014-02-04