Mutagenetix > Incidental Mutation

Incidental Mutation 'R9044:Mdm2'

687935

Institutional Source

Beutler Lab

Gene Symbol

Mdm2

Ensembl Gene

ENSMUSG00000020184

Gene Name

transformed mouse 3T3 cell double minute 2

Synonyms

Mdm-2, 1700007J15Rik

MMRRC Submission

068871-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9044 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117524780-117546663 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117530960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 170 (D170E)

Ref Sequence

ENSEMBL: ENSMUSP00000020408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020408] [ENSMUST00000105263] [ENSMUST00000155285]

AlphaFold

P23804

Predicted Effect

SMART Domains

Protein: ENSMUSP00000020408
Gene: ENSMUSG00000020184
AA Change: D170E

Domain	Start	End	E-Value	Type
Pfam:SWIB	26	101	1.3e-11	PFAM
low complexity region	145	166	N/A	INTRINSIC
low complexity region	200	216	N/A	INTRINSIC
low complexity region	248	262	N/A	INTRINSIC
Pfam:zf-RanBP	297	326	1.7e-10	PFAM
low complexity region	390	410	N/A	INTRINSIC
RING	436	476	2.42e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105263
AA Change: D121E

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100898
Gene: ENSMUSG00000020184
AA Change: D121E

Domain	Start	End	E-Value	Type
Pfam:SWIB	1	53	5e-15	PFAM
low complexity region	96	117	N/A	INTRINSIC
low complexity region	151	167	N/A	INTRINSIC
low complexity region	199	213	N/A	INTRINSIC
Pfam:zf-RanBP	248	277	5.7e-10	PFAM
low complexity region	341	361	N/A	INTRINSIC
RING	387	427	2.42e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000155285
AA Change: M138K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137039
Gene: ENSMUSG00000020184
AA Change: M138K

Domain	Start	End	E-Value	Type
Pfam:SWIB	27	102	3.1e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

95% (62/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality. Mice homozygous for a null allele exhibit prenatal lethality. Mice homozygous for one knock-in allele exhibit embryonic lethality while mice homozygous for a different knock-in allele exhibit alters cell cycle regulation. [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
2610008E11Rik	A	T	10: 78,902,314 (GRCm39)	Y667*	probably null	Het
Acacb	A	G	5: 114,373,578 (GRCm39)	H1869R	probably benign	Het
Adgrb1	A	G	15: 74,441,748 (GRCm39)	T950A	possibly damaging	Het
Alms1	T	A	6: 85,673,735 (GRCm39)	L3110Q	probably damaging	Het
Ambra1	A	T	2: 91,740,434 (GRCm39)		probably benign	Het
Brpf3	A	T	17: 29,025,871 (GRCm39)	N315Y	possibly damaging	Het
Clxn	A	G	16: 14,738,261 (GRCm39)	D142G	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cyba	T	A	8: 123,151,630 (GRCm39)	D189V	probably benign	Het
Dexi	A	G	16: 10,321,385 (GRCm39)		probably benign	Het
Dnah2	C	T	11: 69,420,247 (GRCm39)	V156I	probably benign	Het
Drc7	T	C	8: 95,797,077 (GRCm39)	V420A	probably damaging	Het
Eef2k	T	A	7: 120,479,584 (GRCm39)	V167E	probably damaging	Het
Eid2	T	C	7: 27,968,038 (GRCm39)	I220T	possibly damaging	Het
Fggy	A	C	4: 95,732,334 (GRCm39)	T442P	probably benign	Het
Foxi3	T	G	6: 70,933,683 (GRCm39)	S57A	probably benign	Het
Foxi3	T	A	6: 70,934,186 (GRCm39)		probably null	Het
Galntl5	C	T	5: 25,415,326 (GRCm39)	P286S	possibly damaging	Het
Gm5592	A	G	7: 40,938,274 (GRCm39)	K519E	probably benign	Het
Gse1	T	A	8: 120,957,269 (GRCm39)	S587T	unknown	Het
Kcns1	G	T	2: 164,009,996 (GRCm39)	F254L	probably damaging	Het
Kif15	A	G	9: 122,840,781 (GRCm39)	T23A	probably benign	Het
Kif16b	T	C	2: 142,541,577 (GRCm39)	Q1241R	possibly damaging	Het
Lck	A	T	4: 129,450,098 (GRCm39)	L205Q	probably damaging	Het
Map9	C	T	3: 82,287,525 (GRCm39)	A420V	possibly damaging	Het
Mllt6	T	A	11: 97,554,485 (GRCm39)	C30S	probably damaging	Het
Muc5b	T	G	7: 141,411,795 (GRCm39)	D1580E	unknown	Het
Oaf	C	T	9: 43,135,308 (GRCm39)	A157T	probably damaging	Het
Or13a19	A	G	7: 139,902,485 (GRCm39)		probably benign	Het
Or2ab1	T	A	11: 58,489,126 (GRCm39)	N295K	possibly damaging	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Osbp2	T	C	11: 3,667,128 (GRCm39)	I8V	probably damaging	Het
Pcdh9	T	C	14: 94,124,247 (GRCm39)	Y641C	probably damaging	Het
Phf10	A	T	17: 15,166,584 (GRCm39)	C429S	probably damaging	Het
Plekha6	C	G	1: 133,201,687 (GRCm39)	P367A	probably benign	Het
Plekha6	C	A	1: 133,201,688 (GRCm39)	P367Q	possibly damaging	Het
Plod2	T	A	9: 92,489,273 (GRCm39)	I756K	probably damaging	Het
Plxnb2	C	A	15: 89,044,566 (GRCm39)		probably benign	Het
Pop1	T	A	15: 34,530,554 (GRCm39)	M1014K	possibly damaging	Het
Prrt4	T	C	6: 29,171,540 (GRCm39)	D304G	probably benign	Het
Rcan2	C	A	17: 44,147,245 (GRCm39)	L28I	probably benign	Het
Rffl	C	T	11: 82,701,020 (GRCm39)	V269I	probably benign	Het
Rhox3c	C	T	X: 36,651,303 (GRCm39)		probably benign	Het
Ric1	C	T	19: 29,577,294 (GRCm39)	A1066V	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Ryr2	A	T	13: 11,752,989 (GRCm39)	Y1777*	probably null	Het
Scart2	G	T	7: 139,828,010 (GRCm39)	G73C	probably damaging	Het
Sh3tc1	T	G	5: 35,854,834 (GRCm39)	K1288Q	possibly damaging	Het
Slc10a5	A	C	3: 10,399,792 (GRCm39)	I289M	probably damaging	Het
Slc16a9	A	G	10: 70,110,797 (GRCm39)	T128A	probably benign	Het
Slc7a11	T	C	3: 50,333,632 (GRCm39)	H373R	probably benign	Het
Spesp1	A	G	9: 62,180,623 (GRCm39)	I95T	probably benign	Het
Sra1	C	T	18: 36,800,946 (GRCm39)	V131I	probably benign	Het
Stxbp5l	A	G	16: 37,024,930 (GRCm39)	V556A	possibly damaging	Het
Sycp2	T	C	2: 177,989,617 (GRCm39)	E1414G	probably damaging	Het
Trac	A	T	14: 54,458,148 (GRCm39)	K57*	probably null	Het
Trps1	T	C	15: 50,686,003 (GRCm39)	E724G	probably benign	Het
Tubgcp6	T	G	15: 88,987,397 (GRCm39)	D1192A	possibly damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vps18	T	G	2: 119,128,034 (GRCm39)	I952M	probably damaging	Het
Wdr36	T	C	18: 32,970,499 (GRCm39)	F20S	probably damaging	Het
Wdr62	C	A	7: 29,962,062 (GRCm39)	R450L	probably benign	Het
Xab2	T	C	8: 3,668,641 (GRCm39)	K76E	probably benign	Het
Zpr1	A	G	9: 46,190,995 (GRCm39)	D300G	probably damaging	Het

Other mutations in Mdm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Mdm2	APN	10	117,538,204 (GRCm39)	missense	possibly damaging	0.91
IGL02102:Mdm2	APN	10	117,528,622 (GRCm39)	missense	possibly damaging	0.93
Terracotta	UTSW	10	117,538,235 (GRCm39)	missense	probably benign	0.07
Xi-an	UTSW	10	117,545,694 (GRCm39)	splice site	probably null
PIT1430001:Mdm2	UTSW	10	117,530,840 (GRCm39)	missense	probably damaging	1.00
R0322:Mdm2	UTSW	10	117,538,109 (GRCm39)	missense	possibly damaging	0.78
R1589:Mdm2	UTSW	10	117,526,434 (GRCm39)	missense	probably benign	0.01
R1766:Mdm2	UTSW	10	117,531,927 (GRCm39)	missense	probably damaging	1.00
R3153:Mdm2	UTSW	10	117,545,618 (GRCm39)	missense	possibly damaging	0.90
R4384:Mdm2	UTSW	10	117,532,344 (GRCm39)	missense	possibly damaging	0.67
R4411:Mdm2	UTSW	10	117,545,694 (GRCm39)	splice site	probably null
R5111:Mdm2	UTSW	10	117,527,126 (GRCm39)	missense	possibly damaging	0.94
R5509:Mdm2	UTSW	10	117,526,517 (GRCm39)	missense	probably damaging	1.00
R5578:Mdm2	UTSW	10	117,538,192 (GRCm39)	missense	possibly damaging	0.81
R5727:Mdm2	UTSW	10	117,538,212 (GRCm39)	missense	possibly damaging	0.77
R6382:Mdm2	UTSW	10	117,528,626 (GRCm39)	missense	probably benign	0.31
R7506:Mdm2	UTSW	10	117,526,596 (GRCm39)	missense	possibly damaging	0.94
R8363:Mdm2	UTSW	10	117,526,239 (GRCm39)	missense	probably damaging	1.00
R9064:Mdm2	UTSW	10	117,538,235 (GRCm39)	missense	probably benign	0.07
R9274:Mdm2	UTSW	10	117,541,081 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTCTTAAACCCAAGCACTACCTG -3'
(R):5'- TGGAGGTAACGTCCACAAAG -3'

Sequencing Primer
(F):5'- CAAGCACTACCTGATGCGAGG -3'
(R):5'- GAGCTTATGTGTAGCTGAACAGATCC -3'

Posted On

2021-11-19