Mutagenetix > Incidental Mutation

Incidental Mutation 'R5806:Mdm1'

448523

Institutional Source

Beutler Lab

Gene Symbol

Mdm1

Ensembl Gene

ENSMUSG00000020212

Gene Name

transformed mouse 3T3 cell double minute 1

Synonyms

Mdm-1

MMRRC Submission

043392-MU

Accession Numbers

Essential gene?

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

Stock #

R5806 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117977716-118004902 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118002563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 628 (H628L)

Ref Sequence

ENSEMBL: ENSMUSP00000126258 (fasta)

Gene Model

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

AlphaFold

Q9D067

Predicted Effect

probably benign
Transcript: ENSMUST00000020437
AA Change: H663L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020437
Gene: ENSMUSG00000020212
AA Change: H663L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163238
AA Change: H673L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127919
Gene: ENSMUSG00000020212
AA Change: H673L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164077

SMART Domains

Protein: ENSMUSP00000132966
Gene: ENSMUSG00000020212

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169817
AA Change: H628L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126258
Gene: ENSMUSG00000020212
AA Change: H628L

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: ENSMUST00000219046

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,388,731 (GRCm39)	M216T	probably benign	Het
Abhd4	A	G	14: 54,499,147 (GRCm39)	N36D	probably benign	Het
Ankra2	T	C	13: 98,405,005 (GRCm39)		probably null	Het
Btd	A	G	14: 31,389,469 (GRCm39)	T397A	probably benign	Het
Ccbe1	T	A	18: 66,209,426 (GRCm39)	K205*	probably null	Het
Clspn	A	G	4: 126,479,899 (GRCm39)	K1081E	probably damaging	Het
Cmya5	A	G	13: 93,230,445 (GRCm39)	S1548P	possibly damaging	Het
Coq8b	T	A	7: 26,950,050 (GRCm39)	Y376*	probably null	Het
Cpxm1	C	A	2: 130,239,393 (GRCm39)	A12S	probably damaging	Het
Cttn	T	C	7: 144,015,005 (GRCm39)	T68A	probably damaging	Het
Cyp2a12	T	A	7: 26,728,504 (GRCm39)		probably null	Het
Ddx46	A	G	13: 55,811,150 (GRCm39)	Q582R	possibly damaging	Het
Ddx55	A	G	5: 124,697,262 (GRCm39)	E208G	probably damaging	Het
Dnaaf4	T	C	9: 72,869,336 (GRCm39)	L182P	probably benign	Het
Dync1h1	A	T	12: 110,618,087 (GRCm39)	T3209S	probably damaging	Het
Ep400	A	T	5: 110,903,420 (GRCm39)	L393*	probably null	Het
Ern1	G	C	11: 106,289,531 (GRCm39)	S924C	probably damaging	Het
Fanci	T	C	7: 79,098,596 (GRCm39)	I1249T	probably damaging	Het
Fgfbp3	T	G	19: 36,895,949 (GRCm39)	D223A	probably damaging	Het
Frmd6	T	C	12: 70,936,794 (GRCm39)	L313P	probably damaging	Het
Galnt17	A	G	5: 130,906,657 (GRCm39)	Y504H	probably damaging	Het
Gjb5	A	G	4: 127,249,718 (GRCm39)	I142T	probably benign	Het
Gvin1	T	C	7: 105,757,413 (GRCm39)	D2352G	probably benign	Het
H2-M2	G	A	17: 37,792,617 (GRCm39)	T218I	probably damaging	Het
Hal	A	G	10: 93,326,846 (GRCm39)	T161A	probably damaging	Het
Helb	G	A	10: 119,928,424 (GRCm39)	R806C	probably damaging	Het
Ift80	T	A	3: 68,857,809 (GRCm39)	I279F	probably benign	Het
Itln1	A	T	1: 171,358,720 (GRCm39)	I149N	possibly damaging	Het
Kcnt2	A	C	1: 140,437,234 (GRCm39)	T556P	probably damaging	Het
Klk1b22	A	T	7: 43,765,301 (GRCm39)	E84D	possibly damaging	Het
Krt78	A	G	15: 101,858,937 (GRCm39)	L305P	probably damaging	Het
Lzts2	T	C	19: 45,014,806 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,265,680 (GRCm39)	L6843P	probably damaging	Het
Magi2	C	A	5: 20,856,202 (GRCm39)	H841Q	probably benign	Het
Med23	A	G	10: 24,783,119 (GRCm39)	D734G	probably damaging	Het
Mfsd13a	T	C	19: 46,354,849 (GRCm39)	W9R	probably benign	Het
Mki67	T	C	7: 135,306,334 (GRCm39)	H576R	probably damaging	Het
Muc5b	A	G	7: 141,416,572 (GRCm39)	T3173A	possibly damaging	Het
Mx1	A	T	16: 97,255,351 (GRCm39)	V234E	possibly damaging	Het
Myh2	T	C	11: 67,072,141 (GRCm39)	L623P	probably damaging	Het
Naip1	C	T	13: 100,581,243 (GRCm39)	M1I	probably null	Het
Ncapd2	A	T	6: 125,158,117 (GRCm39)	V337E	probably damaging	Het
Nit2	G	A	16: 56,982,056 (GRCm39)	T64M	possibly damaging	Het
Or1e34	A	T	11: 73,778,373 (GRCm39)	M275K	probably damaging	Het
Or4c103	T	C	2: 88,513,495 (GRCm39)	N194D	probably damaging	Het
Or6e1	A	T	14: 54,520,264 (GRCm39)	F29L	probably benign	Het
Otub2	A	G	12: 103,369,656 (GRCm39)	E245G	probably benign	Het
Pde8b	T	C	13: 95,178,548 (GRCm39)	K524R	probably damaging	Het
Pih1d2	C	T	9: 50,529,750 (GRCm39)		probably benign	Het
Pik3cg	T	A	12: 32,254,952 (GRCm39)	D345V	possibly damaging	Het
Plekhg4	A	T	8: 106,105,542 (GRCm39)	Q669L	possibly damaging	Het
Prlr	A	T	15: 10,319,290 (GRCm39)	Y73F	probably damaging	Het
Ptk6	T	C	2: 180,841,523 (GRCm39)	I129V	possibly damaging	Het
Ranbp3	A	T	17: 57,017,717 (GRCm39)	T458S	probably benign	Het
Ren1	T	A	1: 133,283,249 (GRCm39)	Y128*	probably null	Het
Rimkla	A	T	4: 119,325,663 (GRCm39)	S249T	probably damaging	Het
Rnf222	T	C	11: 68,783,789 (GRCm39)	S119P	possibly damaging	Het
Rrbp1	T	A	2: 143,805,251 (GRCm39)	E1007V	probably benign	Het
Septin11	G	A	5: 93,315,437 (GRCm39)	E389K	probably benign	Het
Setbp1	A	G	18: 78,899,697 (GRCm39)		probably null	Het
Slc25a54	T	C	3: 108,987,894 (GRCm39)	S12P	probably benign	Het
Slc26a5	A	C	5: 22,028,561 (GRCm39)	F336V	probably damaging	Het
Slc5a6	T	C	5: 31,198,114 (GRCm39)	T254A	probably damaging	Het
Smcr8	G	T	11: 60,671,208 (GRCm39)		probably null	Het
Srcap	A	T	7: 127,158,335 (GRCm39)		probably benign	Het
Srrt	A	T	5: 137,296,179 (GRCm39)	I509N	probably damaging	Het
Tcf25	T	A	8: 124,108,243 (GRCm39)	H99Q	probably benign	Het
Tmem40	A	G	6: 115,713,373 (GRCm39)	V76A	probably benign	Het
Tnni3k	A	T	3: 154,533,248 (GRCm39)	S740T	possibly damaging	Het
Top3a	A	G	11: 60,667,746 (GRCm39)		probably null	Het
Tpd52l2	C	A	2: 181,144,680 (GRCm39)	T109K	probably damaging	Het
Tsnaxip1	C	A	8: 106,564,128 (GRCm39)	D109E	possibly damaging	Het
Uty	G	T	Y: 1,170,921 (GRCm39)	D313E	probably damaging	Het
Zfp143	A	T	7: 109,685,442 (GRCm39)	K423*	probably null	Het
Zfp407	C	T	18: 84,576,739 (GRCm39)	G1458D	probably damaging	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
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
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'- ACCCTCCCTGATACAGCTTTAG -3'
(R):5'- ATTCTAGACAGACAGCAGACAG -3'

Sequencing Primer
(F):5'- GATACAGCTTTAGGTCACAGCCTG -3'
(R):5'- GCAGACAGAGCACCTGC -3'

Posted On

2016-12-15