Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01778:Mdm4'

153757

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mdm4

Ensembl Gene

ENSMUSG00000054387

Gene Name

transformed mouse 3T3 cell double minute 4

Synonyms

4933417N07Rik, Mdmx

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01778

Quality Score

Status

Chromosome

Chromosomal Location

132959484-133030561 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132994547 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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 On

2014-02-04