Mutagenetix > Incidental Mutation

Incidental Mutation 'R0128:Mpeg1'

21533

Institutional Source

Beutler Lab

Gene Symbol

Mpeg1

Ensembl Gene

ENSMUSG00000046805

Gene Name

macrophage expressed gene 1

Synonyms

MPS1, Mpg-1

MMRRC Submission

038413-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R0128 (G1)

Quality Score

217

Status

Validated (trace)

Chromosome

Chromosomal Location

12460779-12465284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12461223 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 15 (V15A)

Ref Sequence

ENSEMBL: ENSMUSP00000108573 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081035]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000081035
AA Change: V15A

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

SMART Domains

Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: V15A

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
MACPF	151	350	2.13e-58	SMART
transmembrane domain	661	683	N/A	INTRINSIC
low complexity region	685	698	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 97.6%
10x: 93.0%
20x: 79.3%

Validation Efficiency

99% (84/85)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,575,639		probably benign	Het
Abcd4	T	G	12: 84,612,352	Q210P	possibly damaging	Het
Ablim2	G	A	5: 35,809,176		probably benign	Het
Actl6b	A	G	5: 137,555,065	N113S	probably benign	Het
Actn3	A	T	19: 4,871,615	V179E	probably damaging	Het
Aff4	C	A	11: 53,415,466	T1145N	probably damaging	Het
Ankrd42	G	A	7: 92,591,859	Q431*	probably null	Het
Anxa9	A	G	3: 95,302,422	S129P	probably benign	Het
Arfgef2	T	G	2: 166,835,719	I88S	probably damaging	Het
Asap3	C	A	4: 136,234,604	N285K	probably damaging	Het
Atp6v0a2	A	G	5: 124,713,184	N477S	probably damaging	Het
Atp7b	C	T	8: 22,028,172	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715		probably null	Het
C87436	G	A	6: 86,469,827	G533D	probably damaging	Het
Ccdc138	T	A	10: 58,528,360	I314N	probably damaging	Het
Ccs	A	G	19: 4,825,626	F237S	probably damaging	Het
Ccz1	T	G	5: 144,009,294		probably benign	Het
Cdcp2	C	T	4: 107,106,707		probably benign	Het
Chd1	A	G	17: 17,393,567	N531S	probably damaging	Het
Clptm1	A	T	7: 19,635,007	F476I	probably damaging	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Cped1	T	A	6: 22,121,039	Y373N	probably benign	Het
Cr2	A	T	1: 195,166,231	V328D	probably damaging	Het
D630045J12Rik	A	T	6: 38,149,771		probably benign	Het
Dcdc2a	A	T	13: 25,187,672		probably benign	Het
Dlg1	G	T	16: 31,858,065		probably null	Het
Epb41l5	A	C	1: 119,549,902	V705G	possibly damaging	Het
Ergic3	C	A	2: 156,011,140	R43S	possibly damaging	Het
Flnb	T	C	14: 7,901,951	V938A	probably damaging	Het
Frmd4a	T	C	2: 4,604,092	Y928H	probably damaging	Het
Fyn	C	T	10: 39,511,982	T78M	probably benign	Het
Gdap2	A	G	3: 100,201,995	T443A	probably damaging	Het
Ghrl	A	T	6: 113,717,168		probably benign	Het
Gm1141	T	C	X: 71,939,555	C378R	possibly damaging	Het
Gm12166	A	G	11: 46,052,293	M1T	probably null	Het
Gm4787	T	A	12: 81,377,747	K546*	probably null	Het
Gm498	G	T	7: 143,891,755	G178C	probably damaging	Het
Gm6576	C	G	15: 27,026,000		noncoding transcript	Het
Got1	C	T	19: 43,524,377	D27N	probably benign	Het
Gucy2c	C	T	6: 136,704,249	V946I	probably damaging	Het
Hectd4	T	C	5: 121,349,243	Y3434H	possibly damaging	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Itpr1	A	G	6: 108,471,209		probably benign	Het
Kctd1	G	A	18: 14,974,180	P743S	probably benign	Het
Klhl23	T	C	2: 69,833,966	V553A	probably damaging	Het
Krt24	T	C	11: 99,280,267	D495G	probably damaging	Het
L3hypdh	C	T	12: 72,077,143		probably null	Het
Lipo3	C	T	19: 33,557,106		probably null	Het
Lman2l	G	T	1: 36,424,864	S171*	probably null	Het
Lrp1b	T	C	2: 41,511,508	D378G	probably damaging	Het
Map3k4	T	A	17: 12,248,063	D1104V	probably damaging	Het
Narf	C	T	11: 121,250,836	R356C	probably damaging	Het
Nebl	T	A	2: 17,393,023	Q487H	possibly damaging	Het
Olfm5	G	A	7: 104,160,926	A76V	probably benign	Het
Olfr1090	T	C	2: 86,753,887	M284V	probably benign	Het
Olfr339	T	A	2: 36,422,287	D296E	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr656	A	T	7: 104,618,581	I301F	probably damaging	Het
Olfr992	T	A	2: 85,399,961	S191C	probably damaging	Het
Palb2	A	T	7: 122,128,166	Y160*	probably null	Het
Paxip1	C	T	5: 27,744,185		probably benign	Het
Pclo	A	G	5: 14,679,797		probably benign	Het
Pdcd11	G	A	19: 47,119,862	V1223I	probably benign	Het
Pde6c	T	C	19: 38,169,365		probably benign	Het
Prr12	A	G	7: 45,050,039		probably benign	Het
Prss39	T	A	1: 34,502,200		probably benign	Het
Samd5	A	G	10: 9,674,939	W9R	probably damaging	Het
Sfr1	A	G	19: 47,735,018	*320W	probably null	Het
Sh3bp4	A	G	1: 89,145,314	N628S	possibly damaging	Het
Sim1	A	T	10: 50,907,961	I104F	probably damaging	Het
Slc1a3	T	C	15: 8,636,209	M519V	probably benign	Het
Smcp	T	A	3: 92,584,520	T7S	unknown	Het
Sp4	A	G	12: 118,300,816		probably benign	Het
Spag9	T	A	11: 94,093,539	I327N	probably damaging	Het
Thbs4	G	T	13: 92,754,410	H850N	probably benign	Het
Ubap2l	A	T	3: 90,021,373	S478T	possibly damaging	Het
Unc79	A	G	12: 103,088,434		probably benign	Het
Vmn2r85	A	G	10: 130,419,185		probably benign	Het
Wrap73	A	G	4: 154,142,500	D19G	possibly damaging	Het

Other mutations in Mpeg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Mpeg1	APN	19	12462710	missense	probably benign	0.39
IGL00902:Mpeg1	APN	19	12461769	missense	probably damaging	1.00
IGL01141:Mpeg1	APN	19	12462785	missense	probably damaging	1.00
IGL02037:Mpeg1	APN	19	12463296	missense	probably benign	0.04
IGL02447:Mpeg1	APN	19	12462792	missense	probably damaging	1.00
IGL02448:Mpeg1	APN	19	12462609	missense	probably benign
IGL02510:Mpeg1	APN	19	12461424	missense	probably damaging	1.00
IGL03068:Mpeg1	APN	19	12462206	missense	probably benign	0.01
avoirdupois	UTSW	19	12463055	missense	probably damaging	1.00
R0310:Mpeg1	UTSW	19	12461691	missense	probably benign	0.00
R0312:Mpeg1	UTSW	19	12462403	missense	probably damaging	1.00
R0522:Mpeg1	UTSW	19	12461759	missense	probably damaging	0.99
R1356:Mpeg1	UTSW	19	12461325	missense	probably damaging	0.98
R1396:Mpeg1	UTSW	19	12462804	missense	probably damaging	1.00
R1436:Mpeg1	UTSW	19	12462459	missense	probably damaging	0.98
R1497:Mpeg1	UTSW	19	12461247	missense	probably benign	0.04
R1714:Mpeg1	UTSW	19	12462834	missense	probably damaging	1.00
R1846:Mpeg1	UTSW	19	12463122	missense	probably benign	0.00
R1856:Mpeg1	UTSW	19	12462356	missense	probably benign	0.04
R1933:Mpeg1	UTSW	19	12462647	nonsense	probably null
R1959:Mpeg1	UTSW	19	12462911	missense	probably damaging	1.00
R1960:Mpeg1	UTSW	19	12462911	missense	probably damaging	1.00
R1961:Mpeg1	UTSW	19	12462911	missense	probably damaging	1.00
R2240:Mpeg1	UTSW	19	12463038	missense	probably damaging	0.98
R2474:Mpeg1	UTSW	19	12462249	missense	probably damaging	1.00
R3430:Mpeg1	UTSW	19	12463128	missense	probably benign	0.22
R4079:Mpeg1	UTSW	19	12462270	missense	probably damaging	0.99
R4245:Mpeg1	UTSW	19	12462908	missense	probably damaging	0.99
R4451:Mpeg1	UTSW	19	12463232	nonsense	probably null
R4888:Mpeg1	UTSW	19	12463070	missense	probably damaging	1.00
R4980:Mpeg1	UTSW	19	12461540	missense	probably damaging	1.00
R5071:Mpeg1	UTSW	19	12461181	start codon destroyed	probably null	0.02
R5089:Mpeg1	UTSW	19	12462997	missense	probably benign	0.00
R5120:Mpeg1	UTSW	19	12461429	nonsense	probably null
R5327:Mpeg1	UTSW	19	12461649	missense	probably damaging	1.00
R5490:Mpeg1	UTSW	19	12461693	missense	probably damaging	0.99
R5725:Mpeg1	UTSW	19	12462636	missense	probably benign	0.13
R6147:Mpeg1	UTSW	19	12462894	missense	probably damaging	1.00
R6243:Mpeg1	UTSW	19	12462240	missense	probably benign	0.26
R6486:Mpeg1	UTSW	19	12462105	missense	probably damaging	1.00
R6520:Mpeg1	UTSW	19	12461958	missense	probably benign	0.04
R7139:Mpeg1	UTSW	19	12461714	missense	probably benign	0.07
R7204:Mpeg1	UTSW	19	12462894	missense	probably damaging	1.00
R7310:Mpeg1	UTSW	19	12462251	missense	probably damaging	0.99
R7665:Mpeg1	UTSW	19	12463094	missense	probably damaging	1.00
R7674:Mpeg1	UTSW	19	12461387	missense	probably benign
R8388:Mpeg1	UTSW	19	12462914	missense	probably damaging	1.00
R8749:Mpeg1	UTSW	19	12461927	missense	probably benign	0.08
R8755:Mpeg1	UTSW	19	12461874	missense	probably damaging	0.98
R8773:Mpeg1	UTSW	19	12463055	missense	probably damaging	1.00
R8808:Mpeg1	UTSW	19	12463079	missense	probably damaging	1.00
R9037:Mpeg1	UTSW	19	12461826	missense	probably damaging	1.00
R9110:Mpeg1	UTSW	19	12462650	missense	probably benign
R9280:Mpeg1	UTSW	19	12462464	missense	probably benign	0.07
X0064:Mpeg1	UTSW	19	12461972	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGCCAAACCCCTGTGTAGAAGAAAG -3'
(R):5'- GTATGTCAAGTCCATCACCCGTCC -3'

Sequencing Primer
(F):5'- ATGGTCTCTAATATTCCAACCAGC -3'
(R):5'- CCATGTCTACATTTCTCAGATTATCC -3'

Posted On

2013-04-11