Mutagenetix > Incidental Mutation

Incidental Mutation 'R6382:Mdm2'

515383

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

044531-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6382 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117524780-117546663 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117528626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 177 (V177A)

Ref Sequence

ENSEMBL: ENSMUSP00000100898 (fasta)

Gene Model

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

AlphaFold

P23804

Predicted Effect

probably benign
Transcript: ENSMUST00000020408
AA Change: V226A

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000020408
Gene: ENSMUSG00000020184
AA Change: V226A

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: V177A

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000100898
Gene: ENSMUSG00000020184
AA Change: V177A

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: 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

Meta Mutation Damage Score

0.0813

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.5%

Validation Efficiency

100% (55/55)

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
Abat	T	A	16: 8,418,850 (GRCm39)	M148K	probably benign	Het
Aldoc	T	C	11: 78,216,568 (GRCm39)	I242T	probably benign	Het
Camta2	T	C	11: 70,562,867 (GRCm39)	T927A	probably damaging	Het
Ccdc30	T	C	4: 119,261,363 (GRCm39)	R25G	possibly damaging	Het
Cdh16	T	A	8: 105,348,175 (GRCm39)	M181L	possibly damaging	Het
Clstn1	A	T	4: 149,710,577 (GRCm39)		probably null	Het
Cnot6l	C	A	5: 96,276,858 (GRCm39)	R110L	probably damaging	Het
Col7a1	G	A	9: 108,804,461 (GRCm39)	S2264N	unknown	Het
Cspp1	A	G	1: 10,153,700 (GRCm39)		probably null	Het
Cul1	T	A	6: 47,479,373 (GRCm39)	L213Q	probably damaging	Het
Cuta	T	C	17: 27,157,428 (GRCm39)	Q124R	probably benign	Het
Cyp1a1	T	A	9: 57,607,973 (GRCm39)	N200K	probably damaging	Het
Dag1	C	A	9: 108,085,336 (GRCm39)	A602S	possibly damaging	Het
Ftdc1	T	C	16: 58,434,273 (GRCm39)	E148G	possibly damaging	Het
Gm4707	G	A	17: 71,766,238 (GRCm39)		probably benign	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
H2-T23	T	C	17: 36,342,724 (GRCm39)	Y138C	probably damaging	Het
Hnf4a	A	T	2: 163,410,926 (GRCm39)	M408L	probably benign	Het
Hpse2	A	G	19: 43,376,641 (GRCm39)	L37P	possibly damaging	Het
Hsd17b6	A	T	10: 127,827,196 (GRCm39)	I292N	probably damaging	Het
Hsp90aa1	A	T	12: 110,661,951 (GRCm39)		probably null	Het
Ifit1bl1	T	A	19: 34,572,283 (GRCm39)	Y58F	probably benign	Het
Igkv10-95	A	G	6: 68,657,672 (GRCm39)	T43A	probably benign	Het
Igkv6-17	C	T	6: 70,348,814 (GRCm39)	Q62*	probably null	Het
Jakmip2	A	G	18: 43,704,244 (GRCm39)	S367P	possibly damaging	Het
Lrrc40	A	G	3: 157,764,333 (GRCm39)	D416G	probably damaging	Het
Mpp1	TGAGACGAACTCTCCGAG	TGAG	X: 74,169,375 (GRCm39)		probably null	Het
Myo1b	C	T	1: 51,813,466 (GRCm39)		probably null	Het
Notch2	A	G	3: 98,048,859 (GRCm39)	D1799G	probably damaging	Het
Obscn	C	T	11: 58,890,239 (GRCm39)	G7431D	unknown	Het
Obscn	A	T	11: 58,933,034 (GRCm39)	C4781S	probably damaging	Het
Or2a14	T	A	6: 43,130,899 (GRCm39)	I220N	probably damaging	Het
Or7a35	C	A	10: 78,853,351 (GRCm39)	S65Y	probably damaging	Het
Pard3	T	A	8: 128,103,264 (GRCm39)	V411D	probably damaging	Het
Pfkl	T	C	10: 77,835,671 (GRCm39)	R246G	probably damaging	Het
Pgs1	T	C	11: 117,894,186 (GRCm39)	Y238H	probably damaging	Het
Pik3c2g	A	G	6: 139,665,724 (GRCm39)	E15G	possibly damaging	Het
Pja2	A	G	17: 64,616,610 (GRCm39)	V95A	probably benign	Het
Ripor2	T	C	13: 24,861,828 (GRCm39)	I207T	possibly damaging	Het
Rps15	A	G	10: 80,129,820 (GRCm39)	Y115C	probably damaging	Het
Shkbp1	C	A	7: 27,051,484 (GRCm39)	E192*	probably null	Het
Slc23a4	T	A	6: 34,933,978 (GRCm39)	M42L	probably benign	Het
Snx25	T	A	8: 46,509,028 (GRCm39)	S373C	probably benign	Het
Sppl2a	A	T	2: 126,758,949 (GRCm39)		probably null	Het
Tektl1	G	A	10: 78,588,675 (GRCm39)	T45I	possibly damaging	Het
Tpcn2	A	G	7: 144,823,486 (GRCm39)	S256P	possibly damaging	Het
Txk	C	T	5: 72,893,823 (GRCm39)		probably benign	Het
Ubr2	C	G	17: 47,268,241 (GRCm39)	W991S	possibly damaging	Het
Ufc1	A	G	1: 171,122,248 (GRCm39)	W28R	probably damaging	Het
Unc93b1	C	A	19: 3,985,297 (GRCm39)	A35E	probably benign	Het
Ush2a	A	G	1: 188,546,499 (GRCm39)	N3425S	probably benign	Het
Vmn1r32	A	G	6: 66,530,345 (GRCm39)	Y144H	probably benign	Het
Vmn1r76	A	G	7: 11,664,426 (GRCm39)	F228L	probably damaging	Het
Zfc3h1	A	G	10: 115,243,813 (GRCm39)	N715D	probably benign	Het
Zfp933	T	C	4: 147,910,325 (GRCm39)	S424G	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
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
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'- GATGGCCTCTTCATCTTACTAAAAGG -3'
(R):5'- CATTCTGAGTGTAACCTCGGGG -3'

Sequencing Primer
(F):5'- TCATCTTACTAAAAGGCTGACAGAC -3'
(R):5'- CTGAGTGTAACCTCGGGGCTAAG -3'

Posted On

2018-05-04