Mutagenetix > Incidental Mutations

Incidental Mutation 'R5360:Mdm4'

424265

Institutional Source

Beutler Lab

Gene Symbol

Mdm4

Ensembl Gene

ENSMUSG00000054387

Gene Name

transformed mouse 3T3 cell double minute 4

Synonyms

4933417N07Rik, Mdmx

MMRRC Submission

042939-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5360 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132959484-133030561 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to T at 132991658 bp

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Lysine at position 490 (*490K)

Ref Sequence

ENSEMBL: ENSMUSP00000140609 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067398] [ENSMUST00000067429] [ENSMUST00000185398] [ENSMUST00000186617] [ENSMUST00000188090] [ENSMUST00000191212]

Predicted Effect

probably null
Transcript: ENSMUST00000067398
AA Change: *491K

SMART Domains

Protein: ENSMUSP00000068661
Gene: ENSMUSG00000054387
AA Change: *491K

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 null
Transcript: ENSMUST00000067429
AA Change: *490K

SMART Domains

Protein: ENSMUSP00000070411
Gene: ENSMUSG00000054387
AA Change: *490K

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

probably benign
Transcript: ENSMUST00000186617

SMART Domains

Protein: ENSMUSP00000140812
Gene: ENSMUSG00000054387

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 null
Transcript: ENSMUST00000188090
AA Change: *490K

SMART Domains

Protein: ENSMUSP00000140609
Gene: ENSMUSG00000054387
AA Change: *490K

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

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Acsl5	T	A	19: 55,291,160	Y443*	probably null	Het
Aox3	C	T	1: 58,146,508	T331M	probably damaging	Het
Arhgap32	G	A	9: 32,259,671	R1598H	probably damaging	Het
Atp1a2	A	G	1: 172,278,869		probably null	Het
Brpf3	A	T	17: 28,810,562	M499L	probably benign	Het
Cacnb1	A	T	11: 98,018,271		probably null	Het
Cep295	A	G	9: 15,326,733	S1899P	probably damaging	Het
Cntn2	A	G	1: 132,518,857	Y748H	probably damaging	Het
Csmd3	T	A	15: 47,669,203	Y2532F	probably damaging	Het
D17Wsu92e	A	T	17: 27,794,046	I59N	probably damaging	Het
Dsg1a	A	G	18: 20,340,954	D1028G	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Gabra5	C	T	7: 57,490,785	G55R	probably damaging	Het
Gdf9	T	A	11: 53,437,207	F330Y	probably benign	Het
Gimap8	T	C	6: 48,656,302	S352P	probably damaging	Het
Gm4952	A	T	19: 12,623,629	H71L	probably benign	Het
Gm6803	A	C	12: 88,018,495	L93V	probably benign	Het
Gnaq	G	A	19: 16,133,426	R34H	probably benign	Het
Hebp2	T	C	10: 18,544,307	D126G	probably benign	Het
Hectd4	A	G	5: 121,315,401	D601G	possibly damaging	Het
Hook2	T	C	8: 85,001,404	Y577H	probably damaging	Het
Igfals	A	G	17: 24,880,093	T53A	probably benign	Het
Igsf9b	A	G	9: 27,311,672	D123G	probably damaging	Het
Ikbkap	A	T	4: 56,800,104	H7Q	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Melk	C	T	4: 44,363,730	T592M	probably damaging	Het
Neurl2	C	A	2: 164,833,101	A114S	probably damaging	Het
Nuggc	A	G	14: 65,638,626	T563A	probably damaging	Het
Olfr951	T	G	9: 39,394,402	F204V	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pdlim1	A	T	19: 40,230,549	S213T	probably damaging	Het
Pitx1	T	C	13: 55,828,478	I123V	probably damaging	Het
Pkd1l1	T	C	11: 8,879,204	N1013D	probably benign	Het
Pla2g2c	T	A	4: 138,734,345	Y42N	possibly damaging	Het
Polr2b	G	A	5: 77,349,146	A1168T	possibly damaging	Het
Ppp2r2a	G	A	14: 67,016,571	R383*	probably null	Het
Prl7a2	C	T	13: 27,659,160	R220H	probably benign	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rc3h2	A	G	2: 37,389,855	V454A	possibly damaging	Het
Robo1	A	G	16: 72,935,777	T307A	probably damaging	Het
Slc22a6	T	C	19: 8,619,422	L188P	probably damaging	Het
Spag17	A	G	3: 100,109,410	N2167S	probably benign	Het
Spag5	G	A	11: 78,314,762	E680K	probably damaging	Het
Spata6	A	G	4: 111,822,829	Y428C	possibly damaging	Het
Tbc1d5	T	C	17: 50,984,632	D47G	probably benign	Het
Trp53	T	C	11: 69,588,740		probably null	Het
Tsc22d1	TCAGCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCAGCA	14: 76,417,267		probably benign	Het
Ttc39b	T	C	4: 83,261,847	D103G	probably damaging	Het
Ttn	A	C	2: 76,919,978	W3576G	probably benign	Het
Yeats2	T	A	16: 20,154,162	M22K	probably damaging	Het

Other mutations in Mdm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01778:Mdm4	APN	1	132994547	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- TGGGTTCACAATTTGGAAGAAC -3'
(R):5'- AATGTCTTGAAGCCGTGTAGC -3'

Sequencing Primer
(F):5'- AGTATCTTCTCACTAATGAAACCCTC -3'
(R):5'- CATGTTTCCACTGTGCCA -3'

Posted On

2016-08-04