Mutagenetix > Incidental Mutation

Incidental Mutation 'R4411:Mdm2'

327924

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

041693-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4411 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117524780-117546663 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 117545694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100898 (fasta)

Gene Model

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

AlphaFold

P23804

Predicted Effect

probably null
Transcript: ENSMUST00000020408

SMART Domains

Protein: ENSMUSP00000020408
Gene: ENSMUSG00000020184

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 null
Transcript: ENSMUST00000020408

SMART Domains

Protein: ENSMUSP00000020408
Gene: ENSMUSG00000020184

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 null
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

probably null
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

probably benign
Transcript: ENSMUST00000155285

SMART Domains

Protein: ENSMUSP00000137039
Gene: ENSMUSG00000020184

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

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,042,781 (GRCm39)	I423V	probably benign	Het
Abl2	T	C	1: 156,457,652 (GRCm39)	V306A	possibly damaging	Het
Adcy4	T	C	14: 56,006,900 (GRCm39)	Y1006C	probably damaging	Het
Adprhl1	T	C	8: 13,296,114 (GRCm39)	K144E	probably benign	Het
Arid5b	T	C	10: 67,932,519 (GRCm39)	R885G	probably damaging	Het
Atp9a	A	T	2: 168,503,853 (GRCm39)	V613E	probably damaging	Het
Atxn7l1	G	T	12: 33,244,886 (GRCm39)		probably benign	Het
Brd8	C	A	18: 34,756,497 (GRCm39)		probably benign	Het
Bsnd	C	T	4: 106,343,868 (GRCm39)	R146H	probably benign	Het
C4b	C	T	17: 34,947,838 (GRCm39)	R1659H	probably damaging	Het
Duox1	G	A	2: 122,168,115 (GRCm39)	R1080H	probably benign	Het
Eml2	T	C	7: 18,916,326 (GRCm39)		probably null	Het
Fbxo44	G	A	4: 148,238,065 (GRCm39)	R221C	probably damaging	Het
Frem1	T	C	4: 82,881,481 (GRCm39)	D166G	probably damaging	Het
Galnt5	T	C	2: 57,889,207 (GRCm39)	L269P	probably benign	Het
Gigyf2	A	G	1: 87,364,582 (GRCm39)	E954G	probably damaging	Het
Gpc6	T	C	14: 118,188,590 (GRCm39)	V408A	probably benign	Het
Hspg2	A	G	4: 137,289,535 (GRCm39)	T3832A	probably benign	Het
Ift88	A	G	14: 57,715,436 (GRCm39)	N493S	probably damaging	Het
Ighv1-76	A	T	12: 115,811,731 (GRCm39)	C41S	probably damaging	Het
Igkv12-46	G	A	6: 69,741,930 (GRCm39)	T16I	probably benign	Het
Igkv3-9	G	T	6: 70,565,547 (GRCm39)	V49F	probably damaging	Het
Isoc2b	A	T	7: 4,852,433 (GRCm39)		probably benign	Het
Lcp2	T	A	11: 34,037,173 (GRCm39)		probably benign	Het
Lmntd1	A	G	6: 145,373,003 (GRCm39)		probably null	Het
Mrgprx3-ps	T	C	7: 46,959,746 (GRCm39)		noncoding transcript	Het
Msh2	T	C	17: 88,025,032 (GRCm39)	S637P	probably damaging	Het
Myo5b	T	C	18: 74,831,345 (GRCm39)	F765S	possibly damaging	Het
Nav2	T	A	7: 49,047,857 (GRCm39)	N91K	probably benign	Het
Ndor1	G	A	2: 25,138,492 (GRCm39)	P363S	probably benign	Het
Npr3	G	C	15: 11,905,235 (GRCm39)	T164R	probably benign	Het
Pcdhb5	T	C	18: 37,455,050 (GRCm39)	S477P	possibly damaging	Het
Pde3b	GTGATGATGATGATGATGATGATGATG	GTGATGATGATGATGATGATGATG	7: 114,133,984 (GRCm39)		probably benign	Het
Pnpla7	G	A	2: 24,941,716 (GRCm39)	W13*	probably null	Het
Pnpla8	T	C	12: 44,330,225 (GRCm39)	V41A	probably benign	Het
Prdm2	A	T	4: 142,860,240 (GRCm39)	S1017T	probably benign	Het
Prdm5	T	A	6: 65,878,771 (GRCm39)	Y108*	probably null	Het
Rab34	T	A	11: 78,079,592 (GRCm39)		probably null	Het
Skic3	A	G	13: 76,275,623 (GRCm39)	E410G	possibly damaging	Het
Smpd5	G	T	15: 76,179,112 (GRCm39)	R160L	possibly damaging	Het
Spmip10	A	G	18: 56,727,720 (GRCm39)	T65A	probably benign	Het
Srrm2	A	G	17: 24,029,442 (GRCm39)		probably benign	Het
Taf5	T	A	19: 47,059,453 (GRCm39)	V199D	probably damaging	Het
Tas2r114	C	T	6: 131,666,585 (GRCm39)	V148I	probably benign	Het
Tas2r136	C	A	6: 132,754,972 (GRCm39)	V52L	probably damaging	Het
Tnfrsf25	G	A	4: 152,202,843 (GRCm39)		probably benign	Het
Tpd52l1	T	C	10: 31,255,315 (GRCm39)	T11A	possibly damaging	Het
Trmt1l	G	A	1: 151,327,905 (GRCm39)	E472K	probably benign	Het
Ttc17	T	C	2: 94,173,098 (GRCm39)	K766E	probably damaging	Het
Ttn	C	T	2: 76,560,633 (GRCm39)	R29256Q	probably damaging	Het
Ttn	T	C	2: 76,572,414 (GRCm39)	I26160V	probably damaging	Het
Ubxn6	A	T	17: 56,376,303 (GRCm39)	V311E	probably damaging	Het
Usp2	T	C	9: 44,002,360 (GRCm39)	S351P	probably damaging	Het
Usp7	C	A	16: 8,526,778 (GRCm39)	D187Y	probably damaging	Het
Vmn1r115	C	T	7: 20,578,207 (GRCm39)	R235K	probably benign	Het
Vmn2r50	A	C	7: 9,784,235 (GRCm39)	F80V	probably damaging	Het
Vmn2r58	T	A	7: 41,511,360 (GRCm39)	K481M	possibly damaging	Het
Vmn2r86	A	G	10: 130,288,469 (GRCm39)	I344T	possibly damaging	Het
Zfp455	A	T	13: 67,355,389 (GRCm39)	N219I	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
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'- ACTGTGCGATAATCCAGGTTTC -3'
(R):5'- GGGTTATTTAAACGCTGCCCC -3'

Sequencing Primer
(F):5'- GTGCGATAATCCAGGTTTCAATTTTG -3'
(R):5'- GGATCACCGCGCTTCTC -3'

Posted On

2015-07-07