Mutagenetix > Incidental Mutation

Incidental Mutation 'R8932:Mdm4'

690195

Institutional Source

Beutler Lab

Gene Symbol

Mdm4

Ensembl Gene

ENSMUSG00000054387

Gene Name

transformed mouse 3T3 cell double minute 4

Synonyms

Mdmx, 4933417N07Rik

MMRRC Submission

068776-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8932 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132913843-132958325 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132940382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 50 (M50K)

Ref Sequence

ENSEMBL: ENSMUSP00000068661 (fasta)

Gene Model

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

AlphaFold

O35618

Predicted Effect

probably benign
Transcript: ENSMUST00000067398
AA Change: M50K

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000068661
Gene: ENSMUSG00000054387
AA Change: M50K

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 benign
Transcript: ENSMUST00000067429
AA Change: M49K

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000070411
Gene: ENSMUSG00000054387
AA Change: M49K

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

SMART Domains

Protein: ENSMUSP00000140090
Gene: ENSMUSG00000054387
AA Change: M50K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186617
AA Change: M49K

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140812
Gene: ENSMUSG00000054387
AA Change: M49K

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 benign
Transcript: ENSMUST00000188090
AA Change: M49K

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000140609
Gene: ENSMUSG00000054387
AA Change: M49K

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 benign
Transcript: ENSMUST00000190807
AA Change: M50K

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140284
Gene: ENSMUSG00000054387
AA Change: M50K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191212
AA Change: M50K

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140006
Gene: ENSMUSG00000054387
AA Change: M50K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	G	T	8: 44,105,192 (GRCm39)	T151K	probably benign	Het
Adnp2	C	T	18: 80,185,893 (GRCm39)	G27S	probably damaging	Het
Ank3	A	G	10: 69,660,292 (GRCm39)	M265V	probably benign	Het
Aoc1l1	G	A	6: 48,952,428 (GRCm39)	E118K	probably damaging	Het
Apoe	T	C	7: 19,430,597 (GRCm39)	D215G	possibly damaging	Het
Atp5f1b	A	G	10: 127,924,850 (GRCm39)	I438V	probably benign	Het
Bckdha	A	G	7: 25,330,436 (GRCm39)	S387P	probably damaging	Het
Camkk1	T	C	11: 72,924,734 (GRCm39)	F316L	probably damaging	Het
Carmil1	A	G	13: 24,197,179 (GRCm39)	Y158H		Het
Ccdc148	T	C	2: 58,894,054 (GRCm39)	R29G	probably benign	Het
Ccdc39	A	G	3: 33,884,274 (GRCm39)	V356A	probably benign	Het
Cdan1	G	A	2: 120,561,568 (GRCm39)	Q66*	probably null	Het
Ckap4	A	T	10: 84,364,290 (GRCm39)	S258T	probably benign	Het
Col5a2	T	C	1: 45,419,306 (GRCm39)	D1258G	probably benign	Het
Col6a1	G	A	10: 76,552,593 (GRCm39)	P431L	unknown	Het
Cplane1	A	G	15: 8,223,859 (GRCm39)	Y874C	probably damaging	Het
Csn1s2a	A	G	5: 87,933,164 (GRCm39)	I138V	probably benign	Het
Cyp19a1	C	T	9: 54,083,861 (GRCm39)	G176D	probably benign	Het
Dnah10	A	G	5: 124,878,015 (GRCm39)	E2700G	possibly damaging	Het
Eif3l	T	A	15: 78,960,006 (GRCm39)	Y23*	probably null	Het
Fam72a	A	G	1: 131,456,502 (GRCm39)	K22E	probably benign	Het
Golim4	A	G	3: 75,805,351 (GRCm39)	V258A	probably benign	Het
Gtf2ird2	C	T	5: 134,237,739 (GRCm39)	A272V	probably benign	Het
Hpse	T	C	5: 100,846,872 (GRCm39)	T186A	possibly damaging	Het
Ift140	A	T	17: 25,305,862 (GRCm39)	Q816H	probably benign	Het
Iqca1	A	T	1: 90,067,750 (GRCm39)	I167N	probably damaging	Het
Iqgap1	A	T	7: 80,401,141 (GRCm39)	F515L	probably benign	Het
Itgb4	G	A	11: 115,879,295 (GRCm39)	R558H	probably benign	Het
Kcna10	G	A	3: 107,101,419 (GRCm39)	D17N	probably damaging	Het
Kcnj16	A	G	11: 110,915,829 (GRCm39)	I164V	probably damaging	Het
Lrrc55	G	T	2: 85,026,615 (GRCm39)	N136K	probably damaging	Het
Mfge8	A	G	7: 78,786,530 (GRCm39)	S290P	probably damaging	Het
Mindy4	G	A	6: 55,201,115 (GRCm39)	D267N	probably benign	Het
Mllt10	T	A	2: 18,128,617 (GRCm39)	S199R	probably benign	Het
Mms22l	T	C	4: 24,533,029 (GRCm39)	S436P	probably damaging	Het
Mpped2	A	G	2: 106,697,395 (GRCm39)	N290S	possibly damaging	Het
Mrgpra2a	A	G	7: 47,076,445 (GRCm39)	L271P	probably benign	Het
Myrf	T	A	19: 10,200,931 (GRCm39)	E247D	probably benign	Het
Ndrg3	A	G	2: 156,782,299 (GRCm39)	I189T	possibly damaging	Het
Nenf	C	T	1: 191,050,148 (GRCm39)	E48K	probably benign	Het
Nlgn2	T	A	11: 69,718,994 (GRCm39)	N232Y	probably damaging	Het
Oog2	G	T	4: 143,920,685 (GRCm39)	M39I	probably benign	Het
Or9r7	A	T	10: 129,962,631 (GRCm39)	N98K	probably benign	Het
Osbpl3	A	T	6: 50,304,371 (GRCm39)	N461K	probably benign	Het
P4ha1	A	G	10: 59,175,130 (GRCm39)	D30G	possibly damaging	Het
Pappa2	A	T	1: 158,590,762 (GRCm39)	C1631S	probably damaging	Het
Pigk	A	G	3: 152,445,871 (GRCm39)	M161V	possibly damaging	Het
Prdm1	G	T	10: 44,317,335 (GRCm39)	S496Y	probably damaging	Het
Prkg2	T	C	5: 99,095,299 (GRCm39)	N624S	possibly damaging	Het
Rgs6	A	G	12: 83,112,733 (GRCm39)	D181G	probably damaging	Het
Sbf2	A	G	7: 110,040,155 (GRCm39)		probably null	Het
Sbno2	A	C	10: 79,898,042 (GRCm39)	L728W	probably damaging	Het
Selenbp2	A	T	3: 94,609,793 (GRCm39)	I310F	probably damaging	Het
Shank3	T	A	15: 89,432,986 (GRCm39)	W1244R	possibly damaging	Het
Slc34a1	A	C	13: 24,004,184 (GRCm39)	I395L	probably benign	Het
Slf1	A	T	13: 77,194,693 (GRCm39)	D877E	probably damaging	Het
Smtn	T	C	11: 3,472,908 (GRCm39)	S255G	probably benign	Het
Tbx2	T	A	11: 85,725,533 (GRCm39)	D161E	probably damaging	Het
Tex14	C	A	11: 87,324,675 (GRCm39)	L26M	possibly damaging	Het
Traf7	A	G	17: 24,731,286 (GRCm39)	F249S	probably damaging	Het
Trpm6	A	G	19: 18,815,366 (GRCm39)	K1151E	possibly damaging	Het
Ttc7b	A	G	12: 100,268,022 (GRCm39)	V773A	probably benign	Het
Ttn	G	A	2: 76,747,912 (GRCm39)	T4379I	probably benign	Het
Ttn	G	A	2: 76,602,854 (GRCm39)	T18456I	probably damaging	Het
Ttn	G	C	2: 76,709,171 (GRCm39)	L8703V	unknown	Het
Ubb	T	A	11: 62,442,979 (GRCm39)	I3N	probably damaging	Het
Vmn1r209	A	T	13: 22,990,343 (GRCm39)	W116R	probably damaging	Het
Vmn1r75	A	G	7: 11,614,838 (GRCm39)	D190G	probably damaging	Het
Wdr12	T	A	1: 60,130,202 (GRCm39)	M70L	probably benign	Het
Wdr48	C	A	9: 119,740,142 (GRCm39)	T317K	probably damaging	Het
Zbtb5	A	G	4: 44,993,962 (GRCm39)	V474A	probably benign	Het
Zfp128	C	T	7: 12,625,113 (GRCm39)	R494C	possibly damaging	Het

Other mutations in Mdm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01778:Mdm4	APN	1	132,922,285 (GRCm39)	missense	probably benign	0.02
IGL03034:Mdm4	APN	1	132,938,809 (GRCm39)	missense	probably damaging	1.00
IGL03099:Mdm4	APN	1	132,919,947 (GRCm39)	missense	probably damaging	1.00
Isla_nublar	UTSW	1	132,940,430 (GRCm39)	missense	probably damaging	1.00
Jurassic	UTSW	1	132,938,853 (GRCm39)	missense	probably damaging	0.96
Sun_island	UTSW	1	132,940,389 (GRCm39)	missense	probably damaging	1.00
R0630:Mdm4	UTSW	1	132,919,491 (GRCm39)	missense	possibly damaging	0.47
R1170:Mdm4	UTSW	1	132,940,430 (GRCm39)	missense	probably damaging	1.00
R1170:Mdm4	UTSW	1	132,919,558 (GRCm39)	missense	probably damaging	1.00
R1774:Mdm4	UTSW	1	132,924,384 (GRCm39)	missense	probably damaging	0.99
R1920:Mdm4	UTSW	1	132,931,538 (GRCm39)	missense	probably benign	0.06
R2061:Mdm4	UTSW	1	132,940,389 (GRCm39)	missense	probably damaging	1.00
R2212:Mdm4	UTSW	1	132,922,260 (GRCm39)	missense	probably damaging	1.00
R3695:Mdm4	UTSW	1	132,919,731 (GRCm39)	missense	probably benign	0.00
R3919:Mdm4	UTSW	1	132,922,306 (GRCm39)	missense	possibly damaging	0.94
R5273:Mdm4	UTSW	1	132,922,320 (GRCm39)	missense	probably benign
R5360:Mdm4	UTSW	1	132,919,396 (GRCm39)	makesense	probably null
R6125:Mdm4	UTSW	1	132,922,248 (GRCm39)	missense	possibly damaging	0.95
R6153:Mdm4	UTSW	1	132,919,845 (GRCm39)	missense	probably damaging	1.00
R7028:Mdm4	UTSW	1	132,931,547 (GRCm39)	missense	probably benign	0.09
R7234:Mdm4	UTSW	1	132,938,853 (GRCm39)	missense	probably damaging	0.96
R7267:Mdm4	UTSW	1	132,922,311 (GRCm39)	missense	probably benign	0.00
R8831:Mdm4	UTSW	1	132,931,601 (GRCm39)	missense	probably benign	0.01
R8941:Mdm4	UTSW	1	132,919,671 (GRCm39)	missense	probably benign	0.00
R9272:Mdm4	UTSW	1	132,929,169 (GRCm39)	missense	possibly damaging	0.82
R9279:Mdm4	UTSW	1	132,924,416 (GRCm39)	missense	probably damaging	1.00
R9356:Mdm4	UTSW	1	132,938,837 (GRCm39)	missense	probably damaging	1.00
Z1088:Mdm4	UTSW	1	132,922,285 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCCCAGGTCAATGAATCTGTGG -3'
(R):5'- CCTCCCCAGAAATCAATCTAATTG -3'

Sequencing Primer
(F):5'- GTCAATGAATCTGTGGATGACC -3'
(R):5'- CTTTGTGCTGGGTTTGTGCAG -3'

Posted On

2021-11-19