Mutagenetix > Incidental Mutation

Incidental Mutation 'R5509:Mdm2'

431083

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

043070-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5509 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117524780-117546663 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 117526517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 307 (D307E)

Ref Sequence

ENSEMBL: ENSMUSP00000100898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020399] [ENSMUST00000020408] [ENSMUST00000105263] [ENSMUST00000155285]

AlphaFold

P23804

Predicted Effect

probably benign
Transcript: ENSMUST00000020399

SMART Domains

Protein: ENSMUSP00000020399
Gene: ENSMUSG00000020183

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Zn_pept	22	406	2.03e-45	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000020408
AA Change: D356E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020408
Gene: ENSMUSG00000020184
AA Change: D356E

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 damaging
Transcript: ENSMUST00000105263
AA Change: D307E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100898
Gene: ENSMUSG00000020184
AA Change: D307E

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: ENSMUST00000131627

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132277

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137102

Predicted Effect

probably benign
Transcript: ENSMUST00000155285

SMART Domains

Protein: ENSMUSP00000137039
Gene: ENSMUSG00000020184

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

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 95.5%
20x: 91.6%

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
Abcc10	G	C	17: 46,635,185 (GRCm39)	Q273E	probably benign	Het
Acly	C	T	11: 100,405,805 (GRCm39)	R329Q	probably damaging	Het
Acsm2	T	C	7: 119,172,840 (GRCm39)	S152P	probably damaging	Het
Adamtsl4	A	T	3: 95,588,667 (GRCm39)	I515N	probably benign	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Atp9a	T	C	2: 168,481,857 (GRCm39)	D879G	probably damaging	Het
Bmp8b	G	A	4: 123,008,369 (GRCm39)	D112N	possibly damaging	Het
Camk2d	T	C	3: 126,633,965 (GRCm39)	W496R	probably damaging	Het
Ccdc192	G	A	18: 57,671,156 (GRCm39)		probably null	Het
Cflar	T	C	1: 58,791,551 (GRCm39)	F285L	probably benign	Het
Cox16	T	C	12: 81,519,032 (GRCm39)	T176A	probably benign	Het
Cux1	G	T	5: 136,304,171 (GRCm39)	A1214D	probably benign	Het
Cyb5d1	C	A	11: 69,284,561 (GRCm39)		probably null	Het
Dennd6b	G	A	15: 89,069,225 (GRCm39)	P575S	probably damaging	Het
Fbxl2	A	T	9: 113,814,415 (GRCm39)		probably null	Het
Gfpt2	T	C	11: 49,717,973 (GRCm39)	F483L	possibly damaging	Het
Glrx3	T	C	7: 137,046,751 (GRCm39)	C48R	probably damaging	Het
Invs	G	A	4: 48,396,337 (GRCm39)	V281M	probably damaging	Het
Kif13a	G	A	13: 46,905,591 (GRCm39)	A784V	probably benign	Het
Kmt2d	T	C	15: 98,737,557 (GRCm39)		probably benign	Het
Lmod2	A	G	6: 24,603,888 (GRCm39)	T288A	probably damaging	Het
Lrrc37a	T	C	11: 103,391,361 (GRCm39)	K1355E	probably benign	Het
Magi3	A	T	3: 103,922,818 (GRCm39)	S1300T	probably benign	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mroh4	T	C	15: 74,478,003 (GRCm39)	Y901C	probably benign	Het
Mtmr14	G	T	6: 113,230,768 (GRCm39)		probably null	Het
Mug2	A	T	6: 122,061,340 (GRCm39)	Q1420L	possibly damaging	Het
Net1	T	C	13: 3,934,320 (GRCm39)	Q459R	probably benign	Het
Nle1	T	C	11: 82,794,008 (GRCm39)	R343G	possibly damaging	Het
Npat	C	A	9: 53,481,542 (GRCm39)	N1083K	probably benign	Het
Nrp1	G	A	8: 129,152,396 (GRCm39)	G202R	possibly damaging	Het
Nsun4	C	T	4: 115,908,974 (GRCm39)	V529I	possibly damaging	Het
Or4b1d	T	A	2: 89,969,236 (GRCm39)	L82F	probably damaging	Het
Or4z4	T	A	19: 12,076,341 (GRCm39)	I221F	possibly damaging	Het
Or5b117	A	T	19: 13,431,332 (GRCm39)	L183Q	probably damaging	Het
Or8g21	T	C	9: 38,905,924 (GRCm39)	D269G	probably benign	Het
Podxl	A	T	6: 31,503,548 (GRCm39)	N264K	probably benign	Het
Ptprm	C	T	17: 66,996,353 (GRCm39)	A1245T	probably damaging	Het
Rdh12	T	A	12: 79,257,558 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,760,487 (GRCm39)	Y1532F	probably damaging	Het
Senp2	T	C	16: 21,859,272 (GRCm39)	F441S	probably damaging	Het
Snap23	C	A	2: 120,425,346 (GRCm39)	P111T	probably benign	Het
Sox2	A	G	3: 34,704,938 (GRCm39)	D125G	probably damaging	Het
Syne2	T	C	12: 75,968,018 (GRCm39)	W923R	probably damaging	Het
Tbc1d2b	T	C	9: 90,101,022 (GRCm39)	E656G	probably damaging	Het
Tbcd	A	G	11: 121,492,838 (GRCm39)	T892A	probably benign	Het
Tg	A	G	15: 66,699,142 (GRCm39)	I24V	probably benign	Het
Trpm3	A	T	19: 22,964,622 (GRCm39)	K1372N	probably damaging	Het
Ubc	A	T	5: 125,464,339 (GRCm39)	N329K	probably benign	Het
Vmn2r106	T	A	17: 20,498,684 (GRCm39)	H409L	probably damaging	Het
Wdfy3	T	A	5: 102,009,314 (GRCm39)	N2751Y	possibly damaging	Het
Zfp518a	T	A	19: 40,903,845 (GRCm39)	I1258K	possibly damaging	Het
Zfp91	T	C	19: 12,756,451 (GRCm39)	E131G	probably damaging	Het
Zfyve26	T	A	12: 79,293,295 (GRCm39)	R2027W	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
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'- GTTCGATGGCATTCAGGGAG -3'
(R):5'- GAAGGACTATTGGAAGTGTACCTC -3'

Sequencing Primer
(F):5'- CATTCAGGGAGAAGCTAGATTCCAC -3'
(R):5'- TGGAAGTGTACCTCATGCAATG -3'

Posted On

2016-10-05