Mutagenetix > Incidental Mutation

Incidental Mutation 'R0322:Mdm2'

64984

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

038532-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0322 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

117524780-117546663 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 117538109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 96 (H96Q)

Ref Sequence

ENSEMBL: ENSMUSP00000137039 (fasta)

Gene Model

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

AlphaFold

P23804

Predicted Effect

probably benign
Transcript: ENSMUST00000020408
AA Change: H96Q

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000020408
Gene: ENSMUSG00000020184
AA Change: H96Q

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: H47Q

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000100898
Gene: ENSMUSG00000020184
AA Change: H47Q

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

noncoding transcript
Transcript: ENSMUST00000126022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147823

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155285
AA Change: H96Q

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000137039
Gene: ENSMUSG00000020184
AA Change: H96Q

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

Meta Mutation Damage Score

0.0809

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.8%
20x: 84.3%

Validation Efficiency

98% (58/59)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,888,768 (GRCm39)	S275T	possibly damaging	Het
Adam34	G	T	8: 44,104,958 (GRCm39)	T229N	probably benign	Het
Adgrb3	C	A	1: 25,260,829 (GRCm39)		probably benign	Het
Ankhd1	T	A	18: 36,791,061 (GRCm39)	Y2478*	probably null	Het
Arl9	A	G	5: 77,155,037 (GRCm39)		probably benign	Het
Bub1b	G	A	2: 118,470,099 (GRCm39)		probably benign	Het
Chl1	A	T	6: 103,678,844 (GRCm39)		probably benign	Het
Cobl	T	A	11: 12,217,072 (GRCm39)	E465V	probably damaging	Het
Cobll1	A	T	2: 64,932,442 (GRCm39)	M520K	possibly damaging	Het
Dll3	A	G	7: 27,995,793 (GRCm39)	V336A	possibly damaging	Het
Dnmbp	T	C	19: 43,843,285 (GRCm39)	H1193R	probably damaging	Het
Fbxo43	T	C	15: 36,152,338 (GRCm39)		probably benign	Het
Gart	G	A	16: 91,419,925 (GRCm39)		probably benign	Het
Gjc3	A	T	5: 137,955,760 (GRCm39)	M175K	possibly damaging	Het
Gpc5	T	A	14: 115,636,563 (GRCm39)	N415K	probably benign	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Il7r	A	T	15: 9,510,301 (GRCm39)	F251I	probably benign	Het
Insc	A	G	7: 114,391,500 (GRCm39)	E141G	probably damaging	Het
Itm2c	C	T	1: 85,834,751 (GRCm39)	T160M	probably damaging	Het
Mboat1	T	C	13: 30,416,063 (GRCm39)		probably benign	Het
Mettl13	A	G	1: 162,371,745 (GRCm39)		probably benign	Het
Mfsd4b3-ps	T	C	10: 39,823,526 (GRCm39)	N245D	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mtmr3	T	C	11: 4,437,505 (GRCm39)	Y982C	possibly damaging	Het
Mymk	A	T	2: 26,957,418 (GRCm39)	L66Q	probably damaging	Het
Myo18a	T	C	11: 77,720,626 (GRCm39)	S767P	probably damaging	Het
Ndufa8	T	C	2: 35,926,634 (GRCm39)	D134G	probably benign	Het
Noxa1	A	G	2: 24,982,566 (GRCm39)	F83S	probably damaging	Het
Npc1l1	T	A	11: 6,179,042 (GRCm39)	I123L	probably benign	Het
Ogdhl	A	G	14: 32,059,534 (GRCm39)	T394A	probably benign	Het
Or4s2b	T	C	2: 88,509,011 (GRCm39)	S264P	probably damaging	Het
Or5ae1	A	G	7: 84,565,521 (GRCm39)	Y178C	probably damaging	Het
Pcdh20	T	C	14: 88,706,383 (GRCm39)	T306A	probably benign	Het
Pcid2	G	A	8: 13,140,775 (GRCm39)		probably benign	Het
Phyhip	G	A	14: 70,700,836 (GRCm39)	V108M	possibly damaging	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Psmb4	A	G	3: 94,793,402 (GRCm39)	Y160H	probably benign	Het
Riox2	A	T	16: 59,309,752 (GRCm39)	K369*	probably null	Het
Rnf26rt	T	C	6: 76,473,401 (GRCm39)	Y405C	probably benign	Het
Sh3tc1	G	A	5: 35,863,905 (GRCm39)	P761S	possibly damaging	Het
Slc6a3	T	A	13: 73,709,045 (GRCm39)	V323D	possibly damaging	Het
Smg7	A	G	1: 152,725,624 (GRCm39)		probably null	Het
Srrt	G	A	5: 137,294,870 (GRCm39)	R370C	probably damaging	Het
Stc1	T	C	14: 69,266,858 (GRCm39)	V7A	probably benign	Het
Svep1	G	T	4: 58,057,996 (GRCm39)		probably benign	Het
Tbpl2	A	G	2: 23,984,991 (GRCm39)	V51A	probably benign	Het
Tecr	A	G	8: 84,298,872 (GRCm39)	Y248H	probably damaging	Het
Tenm3	A	G	8: 48,689,947 (GRCm39)		probably benign	Het
Tia1	C	T	6: 86,397,369 (GRCm39)	A114V	probably damaging	Het
Tmprss11f	A	T	5: 86,739,275 (GRCm39)	M2K	probably benign	Het
Tnfsf8	T	C	4: 63,752,403 (GRCm39)	T221A	probably damaging	Het
Tubgcp5	G	A	7: 55,464,726 (GRCm39)	G536S	probably damaging	Het
Tyr	A	T	7: 87,142,125 (GRCm39)	I145N	probably benign	Het
Ubr4	T	A	4: 139,149,729 (GRCm39)	V1809E	probably damaging	Het
Vmn2r65	A	T	7: 84,595,756 (GRCm39)	N309K	probably benign	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
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
R9044:Mdm2	UTSW	10	117,530,960 (GRCm39)	missense
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'- GTGAGAAACAGTGACCGCCCAG -3'
(R):5'- CTGTGATGACCTCAGAGCTGTAGAAGTA -3'

Sequencing Primer
(F):5'- agaactggcagtaccaacag -3'
(R):5'- AGCAGCAGCACATTGTGT -3'

Posted On

2013-08-08