Mutagenetix > Incidental Mutation

Incidental Mutation 'R1170:Mdm4'

99265

Institutional Source

Beutler Lab

Gene Symbol

Mdm4

Ensembl Gene

ENSMUSG00000054387

Gene Name

transformed mouse 3T3 cell double minute 4

Synonyms

4933417N07Rik, Mdmx

MMRRC Submission

039243-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1170 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132959484-133030561 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133012692 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 33 (L33P)

Ref Sequence

ENSEMBL: ENSMUSP00000140609 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067398] [ENSMUST00000067429] [ENSMUST00000185398] [ENSMUST00000186617] [ENSMUST00000188090] [ENSMUST00000190807] [ENSMUST00000191212]

AlphaFold

O35618

Predicted Effect

probably damaging
Transcript: ENSMUST00000067398
AA Change: L34P

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

SMART Domains

Protein: ENSMUSP00000068661
Gene: ENSMUSG00000054387
AA Change: L34P

Domain	Start	End	E-Value	Type
Pfam:SWIB	26	96	3.7e-10	PFAM
low complexity region	281	295	N/A	INTRINSIC
ZnF_RBZ	302	326	1.65e-2	SMART
RING	437	477	7.26e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000067429
AA Change: L33P

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

SMART Domains

Protein: ENSMUSP00000070411
Gene: ENSMUSG00000054387
AA Change: L33P

Domain	Start	End	E-Value	Type
Pfam:SWIB	26	101	2.5e-17	PFAM
low complexity region	280	294	N/A	INTRINSIC
ZnF_RBZ	301	325	1.65e-2	SMART
RING	436	476	7.26e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000185398
AA Change: L34P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140090
Gene: ENSMUSG00000054387
AA Change: L34P

Domain	Start	End	E-Value	Type
Pfam:SWIB	27	102	1.8e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185418

Predicted Effect

probably damaging
Transcript: ENSMUST00000186617
AA Change: L33P

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

SMART Domains

Protein: ENSMUSP00000140812
Gene: ENSMUSG00000054387
AA Change: L33P

Domain	Start	End	E-Value	Type
Pfam:SWIB	26	101	9.9e-15	PFAM
low complexity region	280	294	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000188090
AA Change: L33P

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

SMART Domains

Protein: ENSMUSP00000140609
Gene: ENSMUSG00000054387
AA Change: L33P

Domain	Start	End	E-Value	Type
Pfam:SWIB	26	101	2.5e-17	PFAM
low complexity region	280	294	N/A	INTRINSIC
ZnF_RBZ	301	325	1.65e-2	SMART
RING	436	476	7.26e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190312

Predicted Effect

probably damaging
Transcript: ENSMUST00000190807
AA Change: L34P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140284
Gene: ENSMUSG00000054387
AA Change: L34P

Domain	Start	End	E-Value	Type
Pfam:SWIB	27	102	9.2e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000191212
AA Change: L34P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140006
Gene: ENSMUSG00000054387
AA Change: L34P

Domain	Start	End	E-Value	Type
Pfam:SWIB	27	102	1.4e-15	PFAM

Meta Mutation Damage Score

0.9583

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (105/105)

MGI Phenotype

FUNCTION: This gene encodes a protein that has been shown to negatively regulate the activity of the tumor suppressor protein p53. Homozygous knockout mice exhibit embryonic lethality as a result of p53-dependent apoptosis and cell cycle arrest. Amplification of this gene or overexpression of the encoded protein has been linked to a range of human cancers. A pseudogene has been identified on the X chromosome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality, decreased cellular proliferation, and abnormal nervous system development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	G	1: 151,980,412		probably benign	Het
4932438A13Rik	T	C	3: 37,044,631	S1136P	probably damaging	Het
Akap9	G	A	5: 4,055,671	S2914N	probably benign	Het
Alk	T	C	17: 71,900,734	D1002G	probably damaging	Het
Ap3d1	A	G	10: 80,732,840		probably benign	Het
Asb15	T	C	6: 24,562,487		probably benign	Het
Asxl3	C	A	18: 22,524,507	P1858Q	probably benign	Het
BC003331	T	A	1: 150,386,391	E99D	probably benign	Het
Bud31	T	A	5: 145,142,578		probably benign	Het
C1qtnf1	G	T	11: 118,448,269	R255L	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286	R745W	probably damaging	Het
Cage1	C	T	13: 38,022,880	E330K	probably damaging	Het
Catsperz	T	A	19: 6,924,949	N59I	probably benign	Het
Ccdc110	G	T	8: 45,941,885	S271I	probably benign	Het
Ccdc88b	T	A	19: 6,853,213	E787V	probably damaging	Het
Ccna2	A	T	3: 36,568,970		probably benign	Het
Cd36	T	A	5: 17,813,088	D209V	probably damaging	Het
Cers4	T	A	8: 4,519,475	W161R	probably damaging	Het
Ces2f	T	A	8: 104,953,546	H442Q	probably damaging	Het
Chchd6	A	C	6: 89,384,687	C245G	probably damaging	Het
Cndp1	T	G	18: 84,611,625	Q481P	probably benign	Het
Col3a1	A	G	1: 45,327,601	R234G	unknown	Het
Col3a1	A	T	1: 45,347,724	N232I	probably damaging	Het
Colgalt2	A	T	1: 152,503,017	D398V	probably damaging	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,348,082		probably null	Het
Dcdc2a	C	A	13: 25,056,307	Q13K	probably benign	Het
Dzip3	A	T	16: 48,961,208	I240N	probably damaging	Het
Epb41l3	T	A	17: 69,259,180	L452*	probably null	Het
Fam193b	C	T	13: 55,541,705	A753T	probably damaging	Het
Fam35a	A	T	14: 34,268,491	S153T	possibly damaging	Het
Fam47e	G	C	5: 92,565,922		probably benign	Het
Fastkd1	A	G	2: 69,708,649		probably benign	Het
Fmnl1	G	A	11: 103,197,370	G69D	probably benign	Het
Foxn2	A	G	17: 88,473,666		probably benign	Het
Fsip2	A	G	2: 82,991,500	E5859G	possibly damaging	Het
Gm9894	T	A	13: 67,764,701		noncoding transcript	Het
H2-Bl	T	C	17: 36,081,091	N44S	possibly damaging	Het
Helz2	T	C	2: 181,229,815	Y2668C	probably damaging	Het
Hhipl1	T	A	12: 108,311,693	C93*	probably null	Het
Lig1	C	T	7: 13,292,153	A278V	probably benign	Het
Lipn	T	A	19: 34,071,758	I108K	probably benign	Het
Lsamp	A	G	16: 42,151,229		probably benign	Het
Map3k14	A	G	11: 103,238,917		probably benign	Het
Meiob	T	C	17: 24,836,484	W422R	probably damaging	Het
Mppe1	T	C	18: 67,227,706	Y254C	probably damaging	Het
Mterf1a	A	T	5: 3,890,964	N301K	probably benign	Het
Muc6	C	T	7: 141,644,233	S1210N	probably damaging	Het
Mycbp2	A	T	14: 103,200,152	Y2091*	probably null	Het
Mylk	G	A	16: 34,874,039	R156H	probably benign	Het
Myo15	G	T	11: 60,479,407	D998Y	probably benign	Het
Neb	A	T	2: 52,196,357	Y5235N	probably damaging	Het
Nop58	A	G	1: 59,704,211		probably benign	Het
Nr4a3	A	G	4: 48,051,564	H135R	probably damaging	Het
Nr4a3	A	G	4: 48,083,324	K619R	probably benign	Het
Nrg1	T	C	8: 31,837,667		probably benign	Het
Olfr1031	A	T	2: 85,992,696	N293I	probably damaging	Het
Olfr1312	A	T	2: 112,042,215	D272E	probably benign	Het
Olfr1484	T	C	19: 13,586,213	V260A	probably benign	Het
Olfr938	T	A	9: 39,078,229	D172V	possibly damaging	Het
Parp3	T	C	9: 106,476,005		probably benign	Het
Pde2a	A	G	7: 101,484,543	E103G	probably benign	Het
Pds5a	A	T	5: 65,635,302		probably benign	Het
Pip4k2c	A	G	10: 127,211,393	V40A	unknown	Het
Pitrm1	T	C	13: 6,552,744		probably benign	Het
Plk4	A	G	3: 40,801,847	I64M	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669	Q328*	probably null	Het
Ppp2r1a	T	C	17: 20,951,331		probably benign	Het
Ppp4r3b	T	A	11: 29,209,426	N172K	probably damaging	Het
Prkcg	G	A	7: 3,319,661	R357Q	probably damaging	Het
Prmt3	T	C	7: 49,848,547		probably null	Het
Prx	T	A	7: 27,518,007	C644*	probably null	Het
Ptpru	A	G	4: 131,808,527		probably benign	Het
Rbm5	A	T	9: 107,742,497	D738E	probably damaging	Het
Recql5	A	T	11: 115,897,234	Y420N	probably damaging	Het
Rnf17	T	C	14: 56,425,631	I152T	probably benign	Het
Rnpepl1	A	G	1: 92,919,195	S580G	possibly damaging	Het
Ryr3	C	T	2: 112,946,987	G275D	probably damaging	Het
Serpinb9e	T	A	13: 33,257,752	Y222*	probably null	Het
Slc10a1	T	A	12: 80,956,028	I279F	probably damaging	Het
Slc12a8	G	T	16: 33,662,977	G584V	probably damaging	Het
Slc35b3	T	A	13: 38,937,331	Y311F	probably benign	Het
Slc44a5	A	G	3: 154,257,720		probably null	Het
Slc6a9	A	G	4: 117,864,806	E422G	possibly damaging	Het
Smpd2	A	G	10: 41,488,732		probably null	Het
Spast	A	G	17: 74,381,968		probably null	Het
Spink5	A	T	18: 43,983,563	E208V	probably benign	Het
Stag1	T	C	9: 100,888,453		probably benign	Het
Stambp	A	G	6: 83,563,821		probably null	Het
Sult3a2	A	T	10: 33,777,192	M184K	possibly damaging	Het
Tcp11	T	C	17: 28,071,662	D162G	probably damaging	Het
Themis	A	C	10: 28,668,748	E30A	possibly damaging	Het
Tmc7	G	A	7: 118,551,260	S350L	probably benign	Het
Tmem131	A	T	1: 36,834,898	Y271*	probably null	Het
Trim35	T	A	14: 66,308,799	S338R	probably benign	Het
Trim42	C	A	9: 97,363,620	V376F	probably benign	Het
Tshr	A	T	12: 91,538,097	K11M	probably damaging	Het
Vps8	A	G	16: 21,459,820		probably benign	Het
Wdr11	T	C	7: 129,607,107		probably benign	Het
Wdr26	A	T	1: 181,181,294		probably benign	Het
Wdtc1	A	G	4: 133,297,546	Y447H	probably damaging	Het
Zfp687	C	T	3: 95,008,473	C996Y	probably damaging	Het
Zfp984	A	T	4: 147,755,989	V135E	probably benign	Het
Zranb2	T	C	3: 157,541,865		probably benign	Het

Other mutations in Mdm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01778:Mdm4	APN	1	132994547	missense	probably benign	0.02
IGL03034:Mdm4	APN	1	133011071	missense	probably damaging	1.00
IGL03099:Mdm4	APN	1	132992209	missense	probably damaging	1.00
Isla_nublar	UTSW	1	133012692	missense	probably damaging	1.00
Jurassic	UTSW	1	133011115	missense	probably damaging	0.96
Sun_island	UTSW	1	133012651	missense	probably damaging	1.00
R0630:Mdm4	UTSW	1	132991753	missense	possibly damaging	0.47
R1170:Mdm4	UTSW	1	132991820	missense	probably damaging	1.00
R1774:Mdm4	UTSW	1	132996646	missense	probably damaging	0.99
R1920:Mdm4	UTSW	1	133003800	missense	probably benign	0.06
R2061:Mdm4	UTSW	1	133012651	missense	probably damaging	1.00
R2212:Mdm4	UTSW	1	132994522	missense	probably damaging	1.00
R3695:Mdm4	UTSW	1	132991993	missense	probably benign	0.00
R3919:Mdm4	UTSW	1	132994568	missense	possibly damaging	0.94
R5273:Mdm4	UTSW	1	132994582	missense	probably benign
R5360:Mdm4	UTSW	1	132991658	makesense	probably null
R6125:Mdm4	UTSW	1	132994510	missense	possibly damaging	0.95
R6153:Mdm4	UTSW	1	132992107	missense	probably damaging	1.00
R7028:Mdm4	UTSW	1	133003809	missense	probably benign	0.09
R7234:Mdm4	UTSW	1	133011115	missense	probably damaging	0.96
R7267:Mdm4	UTSW	1	132994573	missense	probably benign	0.00
R8831:Mdm4	UTSW	1	133003863	missense	probably benign	0.01
R8932:Mdm4	UTSW	1	133012644	missense	probably benign	0.13
R8941:Mdm4	UTSW	1	132991933	missense	probably benign	0.00
R9272:Mdm4	UTSW	1	133001431	missense	possibly damaging	0.82
R9279:Mdm4	UTSW	1	132996678	missense	probably damaging	1.00
R9356:Mdm4	UTSW	1	133011099	missense	probably damaging	1.00
Z1088:Mdm4	UTSW	1	132994547	missense	probably benign	0.02

Predicted Primers

Posted On

2014-01-15