Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00095:Mpeg1'

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655

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mpeg1

Ensembl Gene

ENSMUSG00000046805

Gene Name

macrophage expressed gene 1

Synonyms

MPS1, Mpg-1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL00095

Quality Score

Status

Chromosome

Chromosomal Location

12460779-12465284 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12462710 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 511 (F511L)

Ref Sequence

ENSEMBL: ENSMUSP00000108573 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045521] [ENSMUST00000081035]

Predicted Effect

probably benign
Transcript: ENSMUST00000045521

SMART Domains

Protein: ENSMUSP00000040229
Gene: ENSMUSG00000039982

Domain	Start	End	E-Value	Type
WWE	5	86	1.38e-38	SMART
WWE	88	163	6.72e-28	SMART
low complexity region	175	192	N/A	INTRINSIC
low complexity region	372	386	N/A	INTRINSIC
RING	406	464	2.2e-6	SMART
Blast:RING	510	532	3e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000081035
AA Change: F511L

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: F511L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadm2	A	T	16: 66,882,751	Y65N	probably damaging	Het
Catsperg2	C	A	7: 29,698,058	C1042F	possibly damaging	Het
Cluh	T	C	11: 74,664,064	V776A	probably benign	Het
Crxos	T	A	7: 15,898,618	C116*	probably null	Het
Csmd1	A	G	8: 16,009,297		probably benign	Het
Cubn	C	A	2: 13,491,820		probably benign	Het
Exoc2	A	G	13: 30,820,626	I858T	probably benign	Het
Fam105a	A	G	15: 27,658,116	S273P	possibly damaging	Het
Frmpd1	C	A	4: 45,279,456	T727K	possibly damaging	Het
Gm3139	T	C	5: 94,537,804	L441P	probably damaging	Het
Hapln3	T	C	7: 79,121,983	T53A	probably damaging	Het
Hnrnpul1	T	A	7: 25,726,154	Q584L	possibly damaging	Het
Ikbkb	A	T	8: 22,706,111	F26I	probably damaging	Het
Il31ra	A	T	13: 112,547,478	I120N	possibly damaging	Het
Itih1	C	T	14: 30,929,821	V855M	probably benign	Het
Krtap4-16	A	G	11: 99,851,206	S123P	possibly damaging	Het
Large1	C	T	8: 72,837,497	R547Q	probably damaging	Het
Madd	A	G	2: 91,175,766		probably benign	Het
Mark1	A	G	1: 184,898,603	V770A	probably damaging	Het
Mrgpra9	A	G	7: 47,235,091	V276A	possibly damaging	Het
Nav3	T	C	10: 109,841,733	T666A	probably damaging	Het
Ndufa8	T	C	2: 36,044,455	D37G	probably damaging	Het
Nlrx1	A	G	9: 44,253,279	L956P	probably damaging	Het
Nr5a1	T	C	2: 38,708,341	E148G	probably benign	Het
Olfr310	T	C	7: 86,269,669	N40S	probably damaging	Het
Olfr509	A	T	7: 108,645,836	F247I	possibly damaging	Het
Patj	A	C	4: 98,535,562	Q1184P	possibly damaging	Het
Phf20l1	A	G	15: 66,629,035	T619A	probably benign	Het
Pla2g6	T	C	15: 79,289,241	T643A	probably damaging	Het
Radil	A	G	5: 142,497,922	S510P	probably damaging	Het
Spock1	A	G	13: 57,587,739		probably benign	Het
Stag3	C	T	5: 138,299,138	T577M	probably damaging	Het
Tap2	C	T	17: 34,215,378	R613C	probably benign	Het
Tnn	A	G	1: 160,125,451	V673A	possibly damaging	Het
Trrap	T	C	5: 144,779,974		probably benign	Het
Vmn2r28	T	C	7: 5,488,069	D393G	probably benign	Het
Zbtb48	T	C	4: 152,021,394	H418R	probably damaging	Het
Zc3h12d	T	C	10: 7,862,467	V179A	probably damaging	Het

Other mutations in Mpeg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0128:Mpeg1	UTSW	19	12461223	missense	probably benign	0.00
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
X0064:Mpeg1	UTSW	19	12461972	missense	probably damaging	0.98

Posted On

2011-07-12