Incidental Mutation 'R1170:Mdm4'
ID 99264
Institutional Source Beutler Lab
Gene Symbol Mdm4
Ensembl Gene ENSMUSG00000054387
Gene Name transformed mouse 3T3 cell double minute 4
Synonyms Mdmx, 4933417N07Rik
MMRRC Submission 039243-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1170 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 132913843-132958325 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 132919558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 436 (C436S)
Ref Sequence ENSEMBL: ENSMUSP00000140609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067398] [ENSMUST00000067429] [ENSMUST00000185398] [ENSMUST00000186617] [ENSMUST00000188090] [ENSMUST00000191212]
AlphaFold O35618
Predicted Effect probably damaging
Transcript: ENSMUST00000067398
AA Change: C437S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068661
Gene: ENSMUSG00000054387
AA Change: C437S

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 damaging
Transcript: ENSMUST00000067429
AA Change: C436S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070411
Gene: ENSMUSG00000054387
AA Change: C436S

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 probably benign
Transcript: ENSMUST00000186617
SMART Domains Protein: ENSMUSP00000140812
Gene: ENSMUSG00000054387

DomainStartEndE-ValueType
Pfam:SWIB 26 101 9.9e-15 PFAM
low complexity region 280 294 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000188090
AA Change: C436S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140609
Gene: ENSMUSG00000054387
AA Change: C436S

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
Meta Mutation Damage Score 0.9628 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency 100% (105/105)
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025G04Rik A G 1: 151,856,163 (GRCm39) probably benign Het
Akap9 G A 5: 4,105,671 (GRCm39) S2914N probably benign Het
Alk T C 17: 72,207,729 (GRCm39) D1002G probably damaging Het
Ap3d1 A G 10: 80,568,674 (GRCm39) probably benign Het
Asb15 T C 6: 24,562,486 (GRCm39) probably benign Het
Asxl3 C A 18: 22,657,564 (GRCm39) P1858Q probably benign Het
Bltp1 T C 3: 37,098,780 (GRCm39) S1136P probably damaging Het
Bud31 T A 5: 145,079,388 (GRCm39) probably benign Het
C1qtnf1 G T 11: 118,339,095 (GRCm39) R255L probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cage1 C T 13: 38,206,856 (GRCm39) E330K probably damaging Het
Catsperz T A 19: 6,902,317 (GRCm39) N59I probably benign Het
Ccdc110 G T 8: 46,394,922 (GRCm39) S271I probably benign Het
Ccdc88b T A 19: 6,830,581 (GRCm39) E787V probably damaging Het
Ccna2 A T 3: 36,623,119 (GRCm39) probably benign Het
Cd36 T A 5: 18,018,086 (GRCm39) D209V probably damaging Het
Cers4 T A 8: 4,569,475 (GRCm39) W161R probably damaging Het
Ces2f T A 8: 105,680,178 (GRCm39) H442Q probably damaging Het
Chchd6 A C 6: 89,361,669 (GRCm39) C245G probably damaging Het
Cndp1 T G 18: 84,629,750 (GRCm39) Q481P probably benign Het
Col3a1 A G 1: 45,366,761 (GRCm39) R234G unknown Het
Col3a1 A T 1: 45,386,884 (GRCm39) N232I probably damaging Het
Colgalt2 A T 1: 152,378,768 (GRCm39) D398V probably damaging Het
Cxcl10 TACTCAC TACTCACTCAC 5: 92,495,941 (GRCm39) probably null Het
Dcdc2a C A 13: 25,240,290 (GRCm39) Q13K probably benign Het
Dzip3 A T 16: 48,781,571 (GRCm39) I240N probably damaging Het
Epb41l3 T A 17: 69,566,175 (GRCm39) L452* probably null Het
Fam193b C T 13: 55,689,518 (GRCm39) A753T probably damaging Het
Fam47e G C 5: 92,713,781 (GRCm39) probably benign Het
Fastkd1 A G 2: 69,538,993 (GRCm39) probably benign Het
Fmnl1 G A 11: 103,088,196 (GRCm39) G69D probably benign Het
Foxn2 A G 17: 88,781,094 (GRCm39) probably benign Het
Fsip2 A G 2: 82,821,844 (GRCm39) E5859G possibly damaging Het
Gm9894 T A 13: 67,912,820 (GRCm39) noncoding transcript Het
H2-T13 T C 17: 36,391,983 (GRCm39) N44S possibly damaging Het
Helz2 T C 2: 180,871,608 (GRCm39) Y2668C probably damaging Het
Hhipl1 T A 12: 108,277,952 (GRCm39) C93* probably null Het
Lig1 C T 7: 13,026,079 (GRCm39) A278V probably benign Het
Lipn T A 19: 34,049,158 (GRCm39) I108K probably benign Het
Lsamp A G 16: 41,971,592 (GRCm39) probably benign Het
Map3k14 A G 11: 103,129,743 (GRCm39) probably benign Het
Meiob T C 17: 25,055,458 (GRCm39) W422R probably damaging Het
Mppe1 T C 18: 67,360,777 (GRCm39) Y254C probably damaging Het
Mterf1a A T 5: 3,940,964 (GRCm39) N301K probably benign Het
Muc6 C T 7: 141,230,500 (GRCm39) S1210N probably damaging Het
Mycbp2 A T 14: 103,437,588 (GRCm39) Y2091* probably null Het
Mylk G A 16: 34,694,409 (GRCm39) R156H probably benign Het
Myo15a G T 11: 60,370,233 (GRCm39) D998Y probably benign Het
Neb A T 2: 52,086,369 (GRCm39) Y5235N probably damaging Het
Nop58 A G 1: 59,743,370 (GRCm39) probably benign Het
Nr4a3 A G 4: 48,083,324 (GRCm39) K619R probably benign Het
Nr4a3 A G 4: 48,051,564 (GRCm39) H135R probably damaging Het
Nrg1 T C 8: 32,327,695 (GRCm39) probably benign Het
Odr4 T A 1: 150,262,142 (GRCm39) E99D probably benign Het
Or4f59 A T 2: 111,872,560 (GRCm39) D272E probably benign Het
Or5b122 T C 19: 13,563,577 (GRCm39) V260A probably benign Het
Or5m8 A T 2: 85,823,040 (GRCm39) N293I probably damaging Het
Or8g24 T A 9: 38,989,525 (GRCm39) D172V possibly damaging Het
Parp3 T C 9: 106,353,204 (GRCm39) probably benign Het
Pde2a A G 7: 101,133,750 (GRCm39) E103G probably benign Het
Pds5a A T 5: 65,792,645 (GRCm39) probably benign Het
Pip4k2c A G 10: 127,047,262 (GRCm39) V40A unknown Het
Pitrm1 T C 13: 6,602,780 (GRCm39) probably benign Het
Plk4 A G 3: 40,756,282 (GRCm39) I64M probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Ppp2r1a T C 17: 21,171,593 (GRCm39) probably benign Het
Ppp4r3b T A 11: 29,159,426 (GRCm39) N172K probably damaging Het
Prkcg G A 7: 3,368,177 (GRCm39) R357Q probably damaging Het
Prmt3 T C 7: 49,498,295 (GRCm39) probably null Het
Prx T A 7: 27,217,432 (GRCm39) C644* probably null Het
Ptpru A G 4: 131,535,838 (GRCm39) probably benign Het
Rbm5 A T 9: 107,619,696 (GRCm39) D738E probably damaging Het
Recql5 A T 11: 115,788,060 (GRCm39) Y420N probably damaging Het
Rnf17 T C 14: 56,663,088 (GRCm39) I152T probably benign Het
Rnpepl1 A G 1: 92,846,917 (GRCm39) S580G possibly damaging Het
Ryr3 C T 2: 112,777,332 (GRCm39) G275D probably damaging Het
Serpinb9e T A 13: 33,441,735 (GRCm39) Y222* probably null Het
Shld2 A T 14: 33,990,448 (GRCm39) S153T possibly damaging Het
Slc10a1 T A 12: 81,002,802 (GRCm39) I279F probably damaging Het
Slc12a8 G T 16: 33,483,347 (GRCm39) G584V probably damaging Het
Slc35b3 T A 13: 39,121,307 (GRCm39) Y311F probably benign Het
Slc44a5 A G 3: 153,963,357 (GRCm39) probably null Het
Slc6a9 A G 4: 117,722,003 (GRCm39) E422G possibly damaging Het
Smpd2 A G 10: 41,364,728 (GRCm39) probably null Het
Spast A G 17: 74,688,963 (GRCm39) probably null Het
Spink5 A T 18: 44,116,630 (GRCm39) E208V probably benign Het
Stag1 T C 9: 100,770,506 (GRCm39) probably benign Het
Stambp A G 6: 83,540,803 (GRCm39) probably null Het
Sult3a2 A T 10: 33,653,188 (GRCm39) M184K possibly damaging Het
Tcp11 T C 17: 28,290,636 (GRCm39) D162G probably damaging Het
Themis A C 10: 28,544,744 (GRCm39) E30A possibly damaging Het
Tmc7 G A 7: 118,150,483 (GRCm39) S350L probably benign Het
Tmem131 A T 1: 36,873,979 (GRCm39) Y271* probably null Het
Trim35 T A 14: 66,546,248 (GRCm39) S338R probably benign Het
Trim42 C A 9: 97,245,673 (GRCm39) V376F probably benign Het
Tshr A T 12: 91,504,871 (GRCm39) K11M probably damaging Het
Vps8 A G 16: 21,278,570 (GRCm39) probably benign Het
Wdr11 T C 7: 129,208,831 (GRCm39) probably benign Het
Wdr26 A T 1: 181,008,859 (GRCm39) probably benign Het
Wdtc1 A G 4: 133,024,857 (GRCm39) Y447H probably damaging Het
Zfp687 C T 3: 94,915,784 (GRCm39) C996Y probably damaging Het
Zfp984 A T 4: 147,840,446 (GRCm39) V135E probably benign Het
Zranb2 T C 3: 157,247,502 (GRCm39) probably benign 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
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
R5273:Mdm4 UTSW 1 132,922,320 (GRCm39) missense probably benign
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
Posted On 2014-01-15