Mutagenetix > Incidental Mutation

Incidental Mutation 'R7028:Mdm4'

546094

Institutional Source

Beutler Lab

Gene Symbol

Mdm4

Ensembl Gene

ENSMUSG00000054387

Gene Name

transformed mouse 3T3 cell double minute 4

Synonyms

4933417N07Rik, Mdmx

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7028 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132959484-133030561 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 133003809 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 165 (C165S)

Ref Sequence

ENSEMBL: ENSMUSP00000140812 (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: C166S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000068661
Gene: ENSMUSG00000054387
AA Change: C166S

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: C165S

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

SMART Domains

Protein: ENSMUSP00000070411
Gene: ENSMUSG00000054387
AA Change: C165S

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
AA Change: C165S

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000140812
Gene: ENSMUSG00000054387
AA Change: C165S

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: C165S

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

SMART Domains

Protein: ENSMUSP00000140609
Gene: ENSMUSG00000054387
AA Change: C165S

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

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,265,675	I804T	probably benign	Het
Abcb1b	A	T	5: 8,805,441	E25V	probably damaging	Het
Adamts9	G	T	6: 92,909,793	Y355*	probably null	Het
Akp3	A	G	1: 87,126,778	M303V	probably benign	Het
Ankrd35	A	T	3: 96,683,334	E312V	possibly damaging	Het
Arhgap40	T	C	2: 158,531,374		probably null	Het
Asxl1	T	C	2: 153,400,107	L859P	probably benign	Het
Atat1	A	G	17: 35,910,005	F11L	probably benign	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
Ccdc7a	A	T	8: 128,881,594	H943Q	unknown	Het
Cep135	A	G	5: 76,616,848	T558A	probably benign	Het
Cfap99	A	G	5: 34,301,519	E86G	possibly damaging	Het
Cfhr2	C	T	1: 139,831,063		probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Col17a1	G	A	19: 47,652,183	P992L	probably damaging	Het
Col7a1	C	T	9: 108,963,263	Q1294*	probably null	Het
Coq8b	T	A	7: 27,239,868	C148S	probably damaging	Het
Csmd2	A	G	4: 128,277,228	N338S		Het
Cspg5	T	A	9: 110,246,891	S232T	possibly damaging	Het
Cyp2c67	A	G	19: 39,639,897	V201A	possibly damaging	Het
Dlgap3	G	A	4: 127,195,517	R302H	possibly damaging	Het
Dpy19l2	T	C	9: 24,628,251	I469V	probably benign	Het
Fam135b	T	C	15: 71,471,563	D401G	probably damaging	Het
Gabbr1	G	T	17: 37,064,737	G453*	probably null	Het
Gclc	C	A	9: 77,788,216	A440D	probably damaging	Het
Glyat	T	C	19: 12,650,359	I106T	probably benign	Het
Gm12185	T	C	11: 48,908,244	N474S	possibly damaging	Het
Gm17079	T	C	14: 51,693,037	H117R		Het
Gm884	C	T	11: 103,614,537	A26T	probably benign	Het
Ildr2	A	G	1: 166,303,529	D318G	probably damaging	Het
Kcnd2	G	A	6: 21,216,178		probably benign	Het
Kif19a	C	T	11: 114,781,208	T207M	probably damaging	Het
Kif3a	G	T	11: 53,586,906	G401*	probably null	Het
Lactbl1	T	A	4: 136,632,975	L155Q	probably damaging	Het
Lrp1b	T	A	2: 41,246,011	D1649V	probably benign	Het
Map2k1	A	G	9: 64,193,823	V191A	probably benign	Het
Med27	G	A	2: 29,509,434	W92*	probably null	Het
Muc20	A	T	16: 32,794,246	S254T	probably benign	Het
Myh1	A	G	11: 67,220,421	E1562G	possibly damaging	Het
Nlrp2	C	G	7: 5,328,572	R275P	possibly damaging	Het
Notch2	T	A	3: 98,102,387	N543K	probably damaging	Het
Nup214	T	A	2: 32,034,156	S1566T	probably benign	Het
Nxnl1	T	G	8: 71,562,793	E157A	possibly damaging	Het
Obscn	A	G	11: 59,079,133	L61P	probably damaging	Het
Ogg1	A	T	6: 113,329,276	I145F	probably damaging	Het
Olfr1359	A	G	13: 21,703,270	K90E	possibly damaging	Het
Olfr453	G	A	6: 42,744,403	R122H	probably benign	Het
Olfr572	T	C	7: 102,927,942	F105L	probably damaging	Het
Olfr976	T	C	9: 39,956,345	T197A	probably benign	Het
Pclo	A	G	5: 14,713,447	D3978G	unknown	Het
Pla2g4e	T	G	2: 120,170,195	D687A	probably damaging	Het
Pla2r1	T	C	2: 60,458,393	K632E	probably damaging	Het
Plg	A	T	17: 12,391,836	Q212L	probably damaging	Het
Poldip3	A	T	15: 83,131,497	N306K	probably damaging	Het
Pspn	A	G	17: 56,999,978	L13P	possibly damaging	Het
Ralgapa1	T	C	12: 55,758,059	E484G	probably damaging	Het
Rbmxl1	G	T	8: 78,506,657	T19K	probably damaging	Het
Rora	G	A	9: 69,196,083	V31I	possibly damaging	Het
Skint5	C	A	4: 113,940,839	W182C	probably damaging	Het
Spata31d1c	A	T	13: 65,036,063	Q473L	probably damaging	Het
Tesk2	G	A	4: 116,802,687	W334*	probably null	Het
Tmem67	C	A	4: 12,075,484	V277L	probably benign	Het
Trhde	A	G	10: 114,518,177	M537T	probably damaging	Het
Ttc30a2	A	T	2: 75,976,269	L633*	probably null	Het
Tubb6	G	A	18: 67,401,911	M293I	probably benign	Het
Ube2ql1	A	T	13: 69,738,754	L196Q	probably damaging	Het
Ubn1	A	T	16: 5,055,324	N70I	probably damaging	Het
Ubtf	A	T	11: 102,314,980	S40T	probably benign	Het
Virma	C	T	4: 11,519,249	A782V	possibly damaging	Het
Xdh	G	T	17: 73,943,873	T28K	probably damaging	Het
Xpo4	A	G	14: 57,597,051	S691P	probably benign	Het
Zfat	A	C	15: 68,180,452	F491V	probably damaging	Het
Zfp623	T	G	15: 75,948,305	V370G	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
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
R7234:Mdm4	UTSW	1	133011115	missense	probably damaging	0.96
R7267:Mdm4	UTSW	1	132994573	missense	probably benign	0.00
R8831:Mdm4	UTSW	1	133003863	missense	probably benign	0.01
R8932:Mdm4	UTSW	1	133012644	missense	probably benign	0.13
R8941:Mdm4	UTSW	1	132991933	missense	probably benign	0.00
R9272:Mdm4	UTSW	1	133001431	missense	possibly damaging	0.82
R9279:Mdm4	UTSW	1	132996678	missense	probably damaging	1.00
R9356:Mdm4	UTSW	1	133011099	missense	probably damaging	1.00
Z1088:Mdm4	UTSW	1	132994547	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CTGAGAGCCAACTTGACCAG -3'
(R):5'- CCTGTGCATAACCCATTGTGTTG -3'

Sequencing Primer
(F):5'- TTGACCAGACAGCGTCCTC -3'
(R):5'- GCATAACCCATTGTGTTGCACAC -3'

Posted On

2019-05-13