Mutagenetix > Incidental Mutation

Incidental Mutation 'R3153:Mdm2'

264479

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

040604-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117524780-117546663 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117545618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 23 (E23G)

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: E23G

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020408
Gene: ENSMUSG00000020184
AA Change: E23G

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

SMART Domains

Protein: ENSMUSP00000100898
Gene: ENSMUSG00000020184

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

noncoding transcript
Transcript: ENSMUST00000151725

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155285
AA Change: E23G

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137039
Gene: ENSMUSG00000020184
AA Change: E23G

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,282,744 (GRCm39)	N200H	probably damaging	Het
Abca17	T	A	17: 24,547,720 (GRCm39)	D218V	probably damaging	Het
Abhd12	A	G	2: 150,676,275 (GRCm39)	F361L	probably benign	Het
Abr	A	T	11: 76,377,295 (GRCm39)	I59N	probably damaging	Het
Agbl1	A	G	7: 76,369,944 (GRCm39)	E681G	probably damaging	Het
B3gnt4	G	T	5: 123,648,716 (GRCm39)	R27L	probably benign	Het
Cct8l1	A	C	5: 25,722,137 (GRCm39)	E284A	probably damaging	Het
Chd7	T	A	4: 8,855,174 (GRCm39)	N2134K	probably benign	Het
Chrna3	C	T	9: 54,923,334 (GRCm39)	C158Y	probably damaging	Het
Cndp2	C	A	18: 84,686,722 (GRCm39)	M433I	probably benign	Het
Cnnm3	T	A	1: 36,560,303 (GRCm39)	S608T	probably damaging	Het
Cnot1	T	C	8: 96,470,906 (GRCm39)	E1314G	possibly damaging	Het
Col20a1	C	T	2: 180,650,386 (GRCm39)	P1074L	probably damaging	Het
Coq6	G	A	12: 84,418,309 (GRCm39)	V298M	probably damaging	Het
Cpt1a	A	G	19: 3,406,430 (GRCm39)	Y132C	probably damaging	Het
Dcdc2a	A	C	13: 25,286,340 (GRCm39)	I125L	probably benign	Het
Eps8l1	A	T	7: 4,474,798 (GRCm39)	I321F	probably damaging	Het
Fancd2	A	G	6: 113,570,230 (GRCm39)	S1394G	possibly damaging	Het
Fcrl5	T	C	3: 87,350,987 (GRCm39)	F166L	probably benign	Het
Gatc	T	C	5: 115,473,546 (GRCm39)	E131G	probably benign	Het
Gpld1	T	C	13: 25,127,603 (GRCm39)	S2P	unknown	Het
Gprc5b	G	A	7: 118,575,770 (GRCm39)	P385L	probably damaging	Het
Gsc2	G	A	16: 17,732,364 (GRCm39)	R137W	probably damaging	Het
Hsd3b1	T	C	3: 98,759,980 (GRCm39)	D337G	probably damaging	Het
Ireb2	T	C	9: 54,793,230 (GRCm39)		probably null	Het
Kank1	T	A	19: 25,388,052 (GRCm39)	V575E	possibly damaging	Het
Kcnmb1	A	T	11: 33,916,339 (GRCm39)	D95V	probably damaging	Het
L3mbtl4	T	A	17: 68,764,243 (GRCm39)	Y125*	probably null	Het
Lce1h	C	T	3: 92,670,982 (GRCm39)	G57R	unknown	Het
Lgalsl	A	G	11: 20,776,487 (GRCm39)	F135S	probably damaging	Het
Lrba	A	G	3: 86,192,526 (GRCm39)	M147V	probably damaging	Het
Mthfd1	C	A	12: 76,358,737 (GRCm39)	Q67K	probably benign	Het
Mtus2	T	C	5: 148,019,870 (GRCm39)	L755P	probably damaging	Het
Or5m13b	T	C	2: 85,754,074 (GRCm39)	V154A	probably benign	Het
Orc3	A	G	4: 34,575,124 (GRCm39)	F587L	probably damaging	Het
Pcdhb7	C	T	18: 37,476,126 (GRCm39)	P421S	probably damaging	Het
Pgk2	T	A	17: 40,519,134 (GRCm39)	D98V	probably damaging	Het
Pkd1l1	A	C	11: 8,817,207 (GRCm39)	S1364A	probably benign	Het
Rin3	A	C	12: 102,334,800 (GRCm39)	E157A	unknown	Het
Rnf126	A	T	10: 79,597,465 (GRCm39)	I149N	probably damaging	Het
Rph3a	T	C	5: 121,111,440 (GRCm39)	T47A	probably damaging	Het
Sap18	T	C	14: 58,039,402 (GRCm39)	M68T	probably benign	Het
Sfrp2	A	G	3: 83,680,577 (GRCm39)	T246A	probably benign	Het
Slc18a3	A	G	14: 32,185,228 (GRCm39)	V385A	probably benign	Het
Slitrk3	C	T	3: 72,956,315 (GRCm39)	W819*	probably null	Het
Smap1	A	T	1: 23,892,630 (GRCm39)	D111E	probably damaging	Het
Spesp1	G	A	9: 62,189,376 (GRCm39)		probably benign	Het
Styk1	A	T	6: 131,286,975 (GRCm39)	Y84*	probably null	Het
Sv2a	T	A	3: 96,092,574 (GRCm39)	D91E	possibly damaging	Het
Tbc1d5	A	G	17: 51,275,264 (GRCm39)	I77T	probably damaging	Het
Trim10	T	A	17: 37,182,580 (GRCm39)	C149S	probably damaging	Het
Zbtb38	T	C	9: 96,570,302 (GRCm39)	K261E	probably benign	Het
Zfp202	T	C	9: 40,119,734 (GRCm39)	L179P	probably benign	Het
Zkscan5	T	A	5: 145,149,437 (GRCm39)	S251R	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
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
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'- CACTTCTAAAGCCTGCGTCAG -3'
(R):5'- CCGAAAGACGTTTTCTGTCTC -3'

Sequencing Primer
(F):5'- CTGTGGAAATATAGGTCGCAGTG -3'
(R):5'- GAAAGACGTTTTCTGTCTCCTTCG -3'

Posted On

2015-02-05