Mutagenetix > Incidental Mutation

Incidental Mutation 'R2870:Mdm1'

253608

Institutional Source

Beutler Lab

Gene Symbol

Mdm1

Ensembl Gene

ENSMUSG00000020212

Gene Name

transformed mouse 3T3 cell double minute 1

Synonyms

Mdm-1

MMRRC Submission

040458-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R2870 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

117977716-118004902 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 117986847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 267 (T267A)

Ref Sequence

ENSEMBL: ENSMUSP00000132966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020437] [ENSMUST00000163238] [ENSMUST00000164077] [ENSMUST00000169817] [ENSMUST00000219087]

AlphaFold

Q9D067

Predicted Effect

probably benign
Transcript: ENSMUST00000020437
AA Change: T267A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000020437
Gene: ENSMUSG00000020212
AA Change: T267A

Domain	Start	End	E-Value	Type
Pfam:MDM1	9	544	1.1e-184	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163238
AA Change: T267A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000127919
Gene: ENSMUSG00000020212
AA Change: T267A

Domain	Start	End	E-Value	Type
Pfam:MDM1	9	554	1.3e-187	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164077
AA Change: T267A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000132966
Gene: ENSMUSG00000020212
AA Change: T267A

Domain	Start	End	E-Value	Type
Pfam:MDM1	9	544	5.5e-185	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169817
AA Change: T222A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126258
Gene: ENSMUSG00000020212
AA Change: T222A

Domain	Start	End	E-Value	Type
Pfam:MDM1	9	172	8.3e-55	PFAM
Pfam:MDM1	168	509	1e-115	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218011

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218400

Predicted Effect

probably benign
Transcript: ENSMUST00000219087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219605

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 98.5%
10x: 94.1%
20x: 79.0%

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 protein similar to the mouse double minute 1 protein. The mouse gene is located in double minute (DM) chromatin particles, is amplified in the mouse transformed 3T3 cell line, and the encoded protein is able to bind to p53. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a nonsense point mutation exhibit retinal degeneration, abnormal eye electrophysiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt3	A	G	3: 30,653,847 (GRCm39)	V51A	probably damaging	Het
Adgb	C	T	10: 10,307,025 (GRCm39)		probably null	Het
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
Ankrd10	C	T	8: 11,665,682 (GRCm39)	R306H	probably damaging	Het
Arhgef10	T	C	8: 15,025,093 (GRCm39)		probably null	Het
Arhgef10	A	G	8: 15,025,666 (GRCm39)	I459V	probably benign	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp12a	A	G	14: 56,624,407 (GRCm39)	R952G	possibly damaging	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Cacna2d1	G	A	5: 16,517,566 (GRCm39)	C404Y	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Cimap1d	G	A	10: 79,481,487 (GRCm39)	T14I	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Csmd3	C	T	15: 47,721,320 (GRCm39)	G1437D	probably damaging	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Dcp1b	C	T	6: 119,191,735 (GRCm39)	S217L	probably benign	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Dmp1	A	G	5: 104,359,974 (GRCm39)	S217G	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Eral1	A	G	11: 77,967,104 (GRCm39)	I164T	possibly damaging	Het
Esr1	G	A	10: 4,947,890 (GRCm39)	R481H	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gria4	T	A	9: 4,503,614 (GRCm39)	N334I	probably damaging	Het
Grm5	T	C	7: 87,251,930 (GRCm39)	V60A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Ino80d	C	T	1: 63,100,198 (GRCm39)		probably null	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Krt31	T	G	11: 99,938,699 (GRCm39)	N298T	possibly damaging	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mmp1b	A	T	9: 7,386,875 (GRCm39)		silent	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Mylk2	A	G	2: 152,761,268 (GRCm39)	K457R	probably damaging	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Or10g1	T	G	14: 52,648,318 (GRCm39)	T4P	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Or8k33	T	C	2: 86,383,928 (GRCm39)	D180G	possibly damaging	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Pcdhb20	A	T	18: 37,638,833 (GRCm39)	Q453L	possibly damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Retnla	A	G	16: 48,663,975 (GRCm39)	R90G	probably benign	Het
Semp2l2b	A	T	10: 21,943,278 (GRCm39)	I234N	probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,740,825 (GRCm39)	I247V	probably benign	Het
Spcs2	T	C	7: 99,488,968 (GRCm39)	D240G	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tbc1d8	A	G	1: 39,444,398 (GRCm39)	F187S	probably damaging	Het
Thbs1	C	G	2: 117,949,859 (GRCm39)	N611K	probably damaging	Het
Tipin	A	C	9: 64,211,609 (GRCm39)	S232R	probably benign	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het

Other mutations in Mdm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Mdm1	APN	10	118,000,346 (GRCm39)	missense	probably damaging	1.00
IGL01400:Mdm1	APN	10	117,993,156 (GRCm39)	missense	probably damaging	1.00
IGL01504:Mdm1	APN	10	117,982,505 (GRCm39)	missense	probably damaging	1.00
IGL02070:Mdm1	APN	10	117,982,523 (GRCm39)	missense	probably damaging	1.00
IGL02149:Mdm1	APN	10	117,983,970 (GRCm39)	missense	probably damaging	1.00
IGL02817:Mdm1	APN	10	118,000,251 (GRCm39)	missense	possibly damaging	0.66
IGL03076:Mdm1	APN	10	117,995,588 (GRCm39)	missense	possibly damaging	0.95
PIT4696001:Mdm1	UTSW	10	117,994,445 (GRCm39)	missense	probably benign
R0071:Mdm1	UTSW	10	117,982,701 (GRCm39)	missense	probably damaging	1.00
R0071:Mdm1	UTSW	10	117,982,701 (GRCm39)	missense	probably damaging	1.00
R0166:Mdm1	UTSW	10	118,002,585 (GRCm39)	missense	probably damaging	0.96
R0218:Mdm1	UTSW	10	117,992,783 (GRCm39)	splice site	probably benign
R0446:Mdm1	UTSW	10	117,987,961 (GRCm39)	missense	probably benign	0.01
R0605:Mdm1	UTSW	10	117,982,506 (GRCm39)	missense	probably damaging	1.00
R2870:Mdm1	UTSW	10	117,986,847 (GRCm39)	missense	probably benign	0.02
R2873:Mdm1	UTSW	10	117,986,847 (GRCm39)	missense	probably benign	0.02
R4816:Mdm1	UTSW	10	117,982,782 (GRCm39)	missense	possibly damaging	0.82
R5571:Mdm1	UTSW	10	117,995,588 (GRCm39)	missense	possibly damaging	0.95
R5623:Mdm1	UTSW	10	117,986,694 (GRCm39)	missense	possibly damaging	0.66
R5806:Mdm1	UTSW	10	118,002,563 (GRCm39)	missense	probably benign
R6537:Mdm1	UTSW	10	117,994,481 (GRCm39)	missense	probably benign	0.00
R6539:Mdm1	UTSW	10	117,986,863 (GRCm39)	critical splice donor site	probably null
R6891:Mdm1	UTSW	10	117,983,937 (GRCm39)	missense	probably benign	0.04
R6952:Mdm1	UTSW	10	118,003,962 (GRCm39)	missense	probably damaging	1.00
R7176:Mdm1	UTSW	10	117,978,770 (GRCm39)	missense	probably damaging	1.00
R7346:Mdm1	UTSW	10	118,000,193 (GRCm39)	nonsense	probably null
R7442:Mdm1	UTSW	10	117,982,590 (GRCm39)	missense	probably benign	0.16
R7464:Mdm1	UTSW	10	117,988,171 (GRCm39)	missense	probably benign	0.00
R8068:Mdm1	UTSW	10	117,982,709 (GRCm39)	missense	possibly damaging	0.91
R8964:Mdm1	UTSW	10	118,002,585 (GRCm39)	missense	probably damaging	0.96
R9049:Mdm1	UTSW	10	117,982,605 (GRCm39)	missense	probably benign	0.01
R9347:Mdm1	UTSW	10	117,982,523 (GRCm39)	missense	probably damaging	1.00
R9509:Mdm1	UTSW	10	117,982,730 (GRCm39)	missense	probably damaging	1.00
Z1088:Mdm1	UTSW	10	117,994,267 (GRCm39)	missense	possibly damaging	0.67
Z1177:Mdm1	UTSW	10	117,994,401 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AACACCTAAGTTCTGTACCACTTAG -3'
(R):5'- GTCCTCTCAGTCTACACAGGAC -3'

Sequencing Primer
(F):5'- GTTCTGTACCACTTAGTAACCAAC -3'
(R):5'- AGGACCTGACTCCACGGAAG -3'

Posted On

2014-12-04