Mutagenetix > Incidental Mutation

Incidental Mutation 'R6125:Mdm4'

487315

Institutional Source

Beutler Lab

Gene Symbol

Mdm4

Ensembl Gene

ENSMUSG00000054387

Gene Name

transformed mouse 3T3 cell double minute 4

Synonyms

Mdmx, 4933417N07Rik

MMRRC Submission

044272-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6125 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132913843-132958325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 132922248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 298 (T298I)

Ref Sequence

ENSEMBL: ENSMUSP00000140812 (fasta)

Gene Model

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

AlphaFold

O35618

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067398
AA Change: T299I

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068661
Gene: ENSMUSG00000054387
AA Change: T299I

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

possibly damaging
Transcript: ENSMUST00000067429
AA Change: T298I

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070411
Gene: ENSMUSG00000054387
AA Change: T298I

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

possibly damaging
Transcript: ENSMUST00000186617
AA Change: T298I

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140812
Gene: ENSMUSG00000054387
AA Change: T298I

Domain	Start	End	E-Value	Type
Pfam:SWIB	26	101	9.9e-15	PFAM
low complexity region	280	294	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000188090
AA Change: T298I

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140609
Gene: ENSMUSG00000054387
AA Change: T298I

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

Meta Mutation Damage Score

0.0656

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.5%

Validation Efficiency

97% (65/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef11	T	C	3: 87,636,909 (GRCm39)	F1023S	probably damaging	Het
Atp1a1	G	A	3: 101,498,023 (GRCm39)	R255C	probably damaging	Het
Bbs12	A	G	3: 37,374,700 (GRCm39)	I383V	probably benign	Het
Cacna1h	G	A	17: 25,604,668 (GRCm39)	P1215L	probably benign	Het
Calm5	A	T	13: 3,904,491 (GRCm39)	K62*	probably null	Het
Chd8	T	A	14: 52,444,491 (GRCm39)	H398L	probably benign	Het
Cspg4b	A	G	13: 113,454,217 (GRCm39)	T88A	probably benign	Het
Dlgap2	A	T	8: 14,777,193 (GRCm39)	H146L	possibly damaging	Het
Dop1a	G	A	9: 86,403,186 (GRCm39)	R1462H	probably damaging	Het
Dusp29	C	A	14: 21,736,758 (GRCm39)	V115L	probably benign	Het
Dync2h1	T	C	9: 7,168,706 (GRCm39)	N369S	probably damaging	Het
Fer1l4	A	C	2: 155,888,907 (GRCm39)	V422G	probably damaging	Het
Fstl4	T	C	11: 53,077,130 (GRCm39)	M629T	probably benign	Het
Galnt18	A	G	7: 111,084,400 (GRCm39)	Y507H	probably damaging	Het
Gar1	C	A	3: 129,624,399 (GRCm39)		probably benign	Het
Gm19402	T	C	10: 77,526,507 (GRCm39)	T29A	probably damaging	Het
Gm826	A	G	2: 160,169,034 (GRCm39)	F92L	unknown	Het
H1f0	T	A	15: 78,913,070 (GRCm39)	I50N	probably damaging	Het
H2-DMb1	A	G	17: 34,376,439 (GRCm39)	Y186C	probably damaging	Het
Hgf	A	G	5: 16,803,159 (GRCm39)	N357S	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hsf2	T	C	10: 57,388,101 (GRCm39)	V415A	probably benign	Het
Ins2	C	A	7: 142,233,430 (GRCm39)		probably null	Het
Kel	A	T	6: 41,667,720 (GRCm39)	F89L	probably damaging	Het
Lratd2	T	C	15: 60,695,146 (GRCm39)	N200S	probably damaging	Het
Lrrc37a	T	C	11: 103,392,386 (GRCm39)	D1013G	probably benign	Het
Ltbp4	C	A	7: 27,027,180 (GRCm39)	G397C	probably damaging	Het
Madd	A	G	2: 90,982,797 (GRCm39)		probably null	Het
Map4k4	A	G	1: 40,043,125 (GRCm39)	D660G	possibly damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mpdz	A	T	4: 81,215,764 (GRCm39)	C1487S	probably benign	Het
Mtus1	A	G	8: 41,537,576 (GRCm39)	S47P	probably damaging	Het
Nek1	T	C	8: 61,481,735 (GRCm39)	S217P	probably damaging	Het
Or10ag59	T	C	2: 87,405,590 (GRCm39)	I54T	probably benign	Het
Or5b123	C	T	19: 13,597,249 (GRCm39)	A241V	probably benign	Het
Pcdhb10	T	C	18: 37,546,679 (GRCm39)	V585A	possibly damaging	Het
Perm1	A	G	4: 156,302,176 (GRCm39)	E240G	probably benign	Het
Pkdrej	T	C	15: 85,700,585 (GRCm39)	T1784A	probably damaging	Het
Pnpla8	C	T	12: 44,354,772 (GRCm39)	T644M	possibly damaging	Het
Rgs2	T	C	1: 143,879,763 (GRCm39)	K32E	probably damaging	Het
Scyl3	A	T	1: 163,778,145 (GRCm39)	M428L	probably benign	Het
Slc30a8	A	G	15: 52,198,530 (GRCm39)	D325G	probably benign	Het
Slc5a9	G	T	4: 111,741,002 (GRCm39)	T548K	probably damaging	Het
Slc9b2	G	A	3: 135,036,457 (GRCm39)		probably null	Het
Slco3a1	C	T	7: 73,968,254 (GRCm39)	D489N	probably benign	Het
Slit3	T	C	11: 35,461,560 (GRCm39)		probably null	Het
Stk39	C	A	2: 68,222,468 (GRCm39)	G199C	probably damaging	Het
Tbx1	A	G	16: 18,402,216 (GRCm39)	F263L	probably damaging	Het
Tcf21	G	T	10: 22,695,665 (GRCm39)	N46K	probably benign	Het
Tdrd9	T	A	12: 112,034,632 (GRCm39)	M1357K	possibly damaging	Het
Tll1	A	G	8: 64,504,521 (GRCm39)	L625P	probably damaging	Het
Tmem131	G	A	1: 36,847,387 (GRCm39)	S1237L	possibly damaging	Het
Trdv5	T	C	14: 54,386,298 (GRCm39)	K56E	possibly damaging	Het
Triml2	G	A	8: 43,640,659 (GRCm39)	V172I	probably benign	Het
Trmt44	C	A	5: 35,722,842 (GRCm39)	D409Y	probably damaging	Het
Ube2o	C	T	11: 116,432,204 (GRCm39)	A921T	probably damaging	Het
Ube2o	T	C	11: 116,435,576 (GRCm39)	D404G	possibly damaging	Het
Ube4b	T	C	4: 149,483,203 (GRCm39)	T22A	probably benign	Het
Ugp2	A	T	11: 21,279,815 (GRCm39)	F327L	probably damaging	Het
Virma	T	C	4: 11,521,172 (GRCm39)	S910P	probably damaging	Het
Vmn2r9	A	G	5: 108,990,836 (GRCm39)	Y842H	probably benign	Het
Zfhx4	A	G	3: 5,463,871 (GRCm39)	D1368G	possibly damaging	Het
Zfp980	T	A	4: 145,429,208 (GRCm39)	*646R	probably null	Het
Zranb3	T	A	1: 127,887,482 (GRCm39)	N982Y	probably benign	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
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

PCR Primer
(F):5'- TTGTGTTAGCAGGGACAGATAG -3'
(R):5'- AAGGTATTTAGTAGCCCTGTGG -3'

Sequencing Primer
(F):5'- TTTAATCCCAGCACTCGGGAG -3'
(R):5'- ATTTAGTAGCCCTGTGGTTTTTAAG -3'

Posted On

2017-10-10