Mutagenetix > Incidental Mutation

Incidental Mutation 'R6486:Mpeg1'

517353

Institutional Source

Beutler Lab

Gene Symbol

Mpeg1

Ensembl Gene

ENSMUSG00000046805

Gene Name

macrophage expressed gene 1

Synonyms

MPS1, Perforin-2, Mpg-1

MMRRC Submission

044618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R6486 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12438143-12442647 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 12439469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 309 (A309E)

Ref Sequence

ENSEMBL: ENSMUSP00000108573 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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 damaging
Transcript: ENSMUST00000081035
AA Change: A309E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: A309E

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

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1d	T	A	14: 29,836,190 (GRCm39)	M853L	probably benign	Het
Cacna2d1	C	T	5: 16,524,448 (GRCm39)		probably null	Het
Capg	G	T	6: 72,534,733 (GRCm39)	E187*	probably null	Het
Carns1	C	T	19: 4,219,979 (GRCm39)	A419T	probably benign	Het
Cpt1b	A	G	15: 89,305,027 (GRCm39)	M407T	probably benign	Het
Dlg2	A	T	7: 91,521,582 (GRCm39)		probably null	Het
Ep400	T	C	5: 110,845,084 (GRCm39)		probably benign	Het
Epha4	T	C	1: 77,360,186 (GRCm39)	N704D	probably damaging	Het
Gga2	A	G	7: 121,601,411 (GRCm39)	S231P	probably damaging	Het
Gpbp1l1	A	G	4: 116,438,572 (GRCm39)	K223E	probably damaging	Het
Homer1	A	T	13: 93,528,233 (GRCm39)	N78I	possibly damaging	Het
Lmbr1	C	T	5: 29,528,859 (GRCm39)	V122M	probably damaging	Het
Myo18a	A	G	11: 77,755,648 (GRCm39)	E1713G	possibly damaging	Het
Neto1	A	G	18: 86,479,371 (GRCm39)	I186M	probably benign	Het
Nfasc	T	C	1: 132,532,952 (GRCm39)	D668G	probably damaging	Het
Nlrc5	T	C	8: 95,247,927 (GRCm39)		probably null	Het
Or1j11	A	T	2: 36,311,556 (GRCm39)	I49F	probably damaging	Het
Or5b124	T	G	19: 13,611,055 (GRCm39)	N193K	probably damaging	Het
Or8c11	G	A	9: 38,289,200 (GRCm39)	V2I	probably benign	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Prkdc	T	C	16: 15,570,628 (GRCm39)	S2304P	probably damaging	Het
Sgsm3	T	C	15: 80,895,546 (GRCm39)	I699T	probably damaging	Het
Slc8b1	T	C	5: 120,671,067 (GRCm39)	F551S	probably damaging	Het
Stra6	TC	T	9: 58,058,705 (GRCm39)		probably null	Het
Tlr3	T	C	8: 45,851,650 (GRCm39)		probably null	Het
Tnfrsf22	T	C	7: 143,194,493 (GRCm39)	T145A	possibly damaging	Het
Trp63	A	T	16: 25,684,090 (GRCm39)	T326S	probably damaging	Het
Unc45a	C	G	7: 79,989,400 (GRCm39)	E23Q	probably benign	Het
Vmn1r234	A	T	17: 21,449,604 (GRCm39)	M173L	probably benign	Het
Vmn2r13	T	G	5: 109,304,425 (GRCm39)	I669L	probably benign	Het
Vwa5a	G	A	9: 38,645,174 (GRCm39)	G420R	probably null	Het

Other mutations in Mpeg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Mpeg1	APN	19	12,440,074 (GRCm39)	missense	probably benign	0.39
IGL00902:Mpeg1	APN	19	12,439,133 (GRCm39)	missense	probably damaging	1.00
IGL01141:Mpeg1	APN	19	12,440,149 (GRCm39)	missense	probably damaging	1.00
IGL02037:Mpeg1	APN	19	12,440,660 (GRCm39)	missense	probably benign	0.04
IGL02447:Mpeg1	APN	19	12,440,156 (GRCm39)	missense	probably damaging	1.00
IGL02448:Mpeg1	APN	19	12,439,973 (GRCm39)	missense	probably benign
IGL02510:Mpeg1	APN	19	12,438,788 (GRCm39)	missense	probably damaging	1.00
IGL03068:Mpeg1	APN	19	12,439,570 (GRCm39)	missense	probably benign	0.01
avoirdupois	UTSW	19	12,440,419 (GRCm39)	missense	probably damaging	1.00
R0128:Mpeg1	UTSW	19	12,438,587 (GRCm39)	missense	probably benign	0.00
R0310:Mpeg1	UTSW	19	12,439,055 (GRCm39)	missense	probably benign	0.00
R0312:Mpeg1	UTSW	19	12,439,767 (GRCm39)	missense	probably damaging	1.00
R0522:Mpeg1	UTSW	19	12,439,123 (GRCm39)	missense	probably damaging	0.99
R1356:Mpeg1	UTSW	19	12,438,689 (GRCm39)	missense	probably damaging	0.98
R1396:Mpeg1	UTSW	19	12,440,168 (GRCm39)	missense	probably damaging	1.00
R1436:Mpeg1	UTSW	19	12,439,823 (GRCm39)	missense	probably damaging	0.98
R1497:Mpeg1	UTSW	19	12,438,611 (GRCm39)	missense	probably benign	0.04
R1714:Mpeg1	UTSW	19	12,440,198 (GRCm39)	missense	probably damaging	1.00
R1846:Mpeg1	UTSW	19	12,440,486 (GRCm39)	missense	probably benign	0.00
R1856:Mpeg1	UTSW	19	12,439,720 (GRCm39)	missense	probably benign	0.04
R1933:Mpeg1	UTSW	19	12,440,011 (GRCm39)	nonsense	probably null
R1959:Mpeg1	UTSW	19	12,440,275 (GRCm39)	missense	probably damaging	1.00
R1960:Mpeg1	UTSW	19	12,440,275 (GRCm39)	missense	probably damaging	1.00
R1961:Mpeg1	UTSW	19	12,440,275 (GRCm39)	missense	probably damaging	1.00
R2240:Mpeg1	UTSW	19	12,440,402 (GRCm39)	missense	probably damaging	0.98
R2474:Mpeg1	UTSW	19	12,439,613 (GRCm39)	missense	probably damaging	1.00
R3430:Mpeg1	UTSW	19	12,440,492 (GRCm39)	missense	probably benign	0.22
R4079:Mpeg1	UTSW	19	12,439,634 (GRCm39)	missense	probably damaging	0.99
R4245:Mpeg1	UTSW	19	12,440,272 (GRCm39)	missense	probably damaging	0.99
R4451:Mpeg1	UTSW	19	12,440,596 (GRCm39)	nonsense	probably null
R4888:Mpeg1	UTSW	19	12,440,434 (GRCm39)	missense	probably damaging	1.00
R4980:Mpeg1	UTSW	19	12,438,904 (GRCm39)	missense	probably damaging	1.00
R5071:Mpeg1	UTSW	19	12,438,545 (GRCm39)	start codon destroyed	probably null	0.02
R5089:Mpeg1	UTSW	19	12,440,361 (GRCm39)	missense	probably benign	0.00
R5120:Mpeg1	UTSW	19	12,438,793 (GRCm39)	nonsense	probably null
R5327:Mpeg1	UTSW	19	12,439,013 (GRCm39)	missense	probably damaging	1.00
R5490:Mpeg1	UTSW	19	12,439,057 (GRCm39)	missense	probably damaging	0.99
R5725:Mpeg1	UTSW	19	12,440,000 (GRCm39)	missense	probably benign	0.13
R6147:Mpeg1	UTSW	19	12,440,258 (GRCm39)	missense	probably damaging	1.00
R6243:Mpeg1	UTSW	19	12,439,604 (GRCm39)	missense	probably benign	0.26
R6520:Mpeg1	UTSW	19	12,439,322 (GRCm39)	missense	probably benign	0.04
R7139:Mpeg1	UTSW	19	12,439,078 (GRCm39)	missense	probably benign	0.07
R7204:Mpeg1	UTSW	19	12,440,258 (GRCm39)	missense	probably damaging	1.00
R7310:Mpeg1	UTSW	19	12,439,615 (GRCm39)	missense	probably damaging	0.99
R7665:Mpeg1	UTSW	19	12,440,458 (GRCm39)	missense	probably damaging	1.00
R7674:Mpeg1	UTSW	19	12,438,751 (GRCm39)	missense	probably benign
R8388:Mpeg1	UTSW	19	12,440,278 (GRCm39)	missense	probably damaging	1.00
R8749:Mpeg1	UTSW	19	12,439,291 (GRCm39)	missense	probably benign	0.08
R8755:Mpeg1	UTSW	19	12,439,238 (GRCm39)	missense	probably damaging	0.98
R8773:Mpeg1	UTSW	19	12,440,419 (GRCm39)	missense	probably damaging	1.00
R8808:Mpeg1	UTSW	19	12,440,443 (GRCm39)	missense	probably damaging	1.00
R9037:Mpeg1	UTSW	19	12,439,190 (GRCm39)	missense	probably damaging	1.00
R9110:Mpeg1	UTSW	19	12,440,014 (GRCm39)	missense	probably benign
R9280:Mpeg1	UTSW	19	12,439,828 (GRCm39)	missense	probably benign	0.07
X0064:Mpeg1	UTSW	19	12,439,336 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CAGGGATTGCCTTCTTAAACATTG -3'
(R):5'- GGTGACTTTCGCATCACAGG -3'

Sequencing Primer
(F):5'- GGATTGCCTTCTTAAACATTGTGAAC -3'
(R):5'- GTGACTTTCGCATCACAGGAATCATC -3'

Posted On

2018-05-21