Mutagenetix > Incidental Mutation

Incidental Mutation 'R8941:Mdm4'

680961

Institutional Source

Beutler Lab

Gene Symbol

Mdm4

Ensembl Gene

ENSMUSG00000054387

Gene Name

transformed mouse 3T3 cell double minute 4

Synonyms

Mdmx, 4933417N07Rik

MMRRC Submission

068781-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8941 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132913843-132958325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132919671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 398 (H398R)

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: H399R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000068661
Gene: ENSMUSG00000054387
AA Change: H399R

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: H398R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000070411
Gene: ENSMUSG00000054387
AA Change: H398R

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 benign
Transcript: ENSMUST00000188090
AA Change: H398R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000140609
Gene: ENSMUSG00000054387
AA Change: H398R

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: 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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,679 (GRCm39)	T103S	probably benign	Het
Aadacl2fm3	A	G	3: 59,784,400 (GRCm39)	Y291C	probably damaging	Het
Aass	A	T	6: 23,075,261 (GRCm39)		probably benign	Het
Adgrb3	A	T	1: 25,133,235 (GRCm39)	C1284S	probably damaging	Het
Adora2a	G	A	10: 75,169,559 (GRCm39)	W341*	probably null	Het
Afg2a	T	A	3: 37,486,142 (GRCm39)	L288H	probably damaging	Het
Arap1	G	A	7: 101,057,324 (GRCm39)	R1355Q	possibly damaging	Het
Asic5	A	T	3: 81,913,915 (GRCm39)		probably benign	Het
Canx	T	C	11: 50,195,270 (GRCm39)	D266G	possibly damaging	Het
Cfap57	A	T	4: 118,426,799 (GRCm39)	Y1080N	probably damaging	Het
Chat	C	T	14: 32,130,963 (GRCm39)	M559I	probably benign	Het
Chd5	G	A	4: 152,463,305 (GRCm39)	S1425N	possibly damaging	Het
Cog8	T	C	8: 107,783,202 (GRCm39)	D29G	probably damaging	Het
Cox15	A	G	19: 43,732,172 (GRCm39)	S215P	probably benign	Het
Cramp1	C	T	17: 25,202,114 (GRCm39)	G456D	probably damaging	Het
Dbt	T	C	3: 116,339,698 (GRCm39)	V362A	probably damaging	Het
Dio1	C	A	4: 107,164,147 (GRCm39)	A57S	probably benign	Het
F5	C	A	1: 164,026,440 (GRCm39)	H1671N	probably benign	Het
Gm6309	A	G	5: 146,107,155 (GRCm39)	Y64H	probably damaging	Het
Hipk1	A	G	3: 103,660,743 (GRCm39)	C731R	probably damaging	Het
Hmgcl	G	A	4: 135,683,015 (GRCm39)	A156T	probably damaging	Het
Il15ra	A	T	2: 11,737,995 (GRCm39)	T210S	possibly damaging	Het
Kat8	T	C	7: 127,524,400 (GRCm39)	L426P	probably damaging	Het
Lrrc39	G	T	3: 116,359,496 (GRCm39)	V14L	probably damaging	Het
Lrrc7	T	C	3: 157,869,593 (GRCm39)	M709V	probably benign	Het
Mroh2b	A	T	15: 4,991,606 (GRCm39)	Q1568L	possibly damaging	Het
Myo18b	G	A	5: 113,022,795 (GRCm39)		probably benign	Het
Nr4a3	C	A	4: 48,051,756 (GRCm39)	P170Q	possibly damaging	Het
Ntrk2	A	G	13: 59,208,109 (GRCm39)	M652V	probably damaging	Het
Or10n7-ps1	A	T	9: 39,597,812 (GRCm39)	*143K	probably null	Het
Or5b95	G	A	19: 12,657,471 (GRCm39)		probably benign	Het
Paxbp1	T	C	16: 90,832,815 (GRCm39)	I325V	possibly damaging	Het
Pcare	T	C	17: 72,059,137 (GRCm39)	H180R	probably benign	Het
Pi4ka	G	T	16: 17,114,807 (GRCm39)		probably benign	Het
Pira13	A	G	7: 3,825,380 (GRCm39)	S421P	probably damaging	Het
Pou6f1	T	A	15: 100,489,742 (GRCm39)	D74V	probably damaging	Het
Prpsap2	C	A	11: 61,627,870 (GRCm39)	R202L	probably damaging	Het
Ptprn	A	T	1: 75,228,407 (GRCm39)	L890Q	probably damaging	Het
Ramp1	C	G	1: 91,134,137 (GRCm39)	P97A	probably benign	Het
Rapgefl1	A	G	11: 98,731,101 (GRCm39)	D179G	probably damaging	Het
Rbp3	T	A	14: 33,678,486 (GRCm39)	F811L	possibly damaging	Het
Rnf213	C	A	11: 119,305,250 (GRCm39)	L494M	probably damaging	Het
Rpl4	A	G	9: 64,082,245 (GRCm39)	N48S	probably benign	Het
Rsbn1l	A	G	5: 21,110,841 (GRCm39)	V499A	probably damaging	Het
Sacs	A	G	14: 61,430,022 (GRCm39)	T691A	probably benign	Het
Sass6	T	C	3: 116,407,709 (GRCm39)	V275A	probably benign	Het
Sdcbp	T	C	4: 6,393,661 (GRCm39)	S259P	probably benign	Het
Sephs2	A	G	7: 126,872,206 (GRCm39)	F296L	probably benign	Het
Slc12a4	C	T	8: 106,673,322 (GRCm39)		probably null	Het
Snrk	G	A	9: 121,989,597 (GRCm39)	V314I	probably benign	Het
Tas1r3	C	T	4: 155,947,600 (GRCm39)		probably null	Het
Tle3	T	A	9: 61,320,195 (GRCm39)	V560E	probably damaging	Het
Trdmt1	A	G	2: 13,526,918 (GRCm39)	Y144H	probably benign	Het
Trim42	T	C	9: 97,245,100 (GRCm39)	T567A	probably benign	Het
Tsbp1	A	C	17: 34,678,973 (GRCm39)	R228S	possibly damaging	Het
Tuba4a	T	C	1: 75,193,945 (GRCm39)	D74G	probably benign	Het
Ube3c	G	A	5: 29,842,769 (GRCm39)		probably null	Het
Vwa3a	A	G	7: 120,375,311 (GRCm39)	D375G	probably benign	Het
Zfp729b	A	G	13: 67,741,218 (GRCm39)	M349T	possibly damaging	Het

Other mutations in Mdm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TGGCTCGTCTTCCCATGAATAATG -3'
(R):5'- TTGCTGGGCCTTGAGAAAGG -3'

Sequencing Primer
(F):5'- TGAATAATGTTCCCATCCCGAGG -3'
(R):5'- GCCTTGAGAAAGGATTGGTATTC -3'

Posted On

2021-08-31