Mutagenetix > Incidental Mutation

Incidental Mutation 'R2474:Mpeg1'

253310

Institutional Source

Beutler Lab

Gene Symbol

Mpeg1

Ensembl Gene

ENSMUSG00000046805

Gene Name

macrophage expressed gene 1

Synonyms

MPS1, Perforin-2, Mpg-1

MMRRC Submission

040405-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R2474 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12438143-12442647 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12439613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 357 (C357Y)

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: C357Y

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

SMART Domains

Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: C357Y

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

0.8965

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	G	3: 151,248,361 (GRCm39)	T678A	probably benign	Het
Asb7	A	T	7: 66,328,901 (GRCm39)	N46K	probably damaging	Het
Atxn7l2	A	C	3: 108,111,293 (GRCm39)	S414R	probably damaging	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Cxcl13	C	T	5: 96,107,816 (GRCm39)	Q91*	probably null	Het
Dchs1	T	C	7: 105,404,281 (GRCm39)	N2754D	probably benign	Het
Dchs1	A	T	7: 105,422,045 (GRCm39)	V125E	probably damaging	Het
Enpep	G	C	3: 129,077,807 (GRCm39)	S603R	possibly damaging	Het
Greb1	T	C	12: 16,764,954 (GRCm39)	N393S	possibly damaging	Het
Hfm1	A	T	5: 107,020,282 (GRCm39)	V1048D	possibly damaging	Het
Ilvbl	T	C	10: 78,412,558 (GRCm39)	V93A	probably damaging	Het
Itpkb	A	G	1: 180,161,716 (GRCm39)	D614G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lgi3	G	A	14: 70,770,689 (GRCm39)		probably null	Het
Nedd1	A	G	10: 92,555,465 (GRCm39)	F7L	probably damaging	Het
Or8g26	A	G	9: 39,095,846 (GRCm39)	D121G	probably damaging	Het
Or8k35	C	A	2: 86,424,957 (GRCm39)	V72F	probably benign	Het
Parp8	A	T	13: 117,029,577 (GRCm39)	C510S	possibly damaging	Het
Phb1	T	C	11: 95,562,248 (GRCm39)	F42L	possibly damaging	Het
Pik3r1	A	T	13: 101,839,284 (GRCm39)	Y189*	probably null	Het
Rps5	T	A	7: 12,660,488 (GRCm39)		probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Senp3	T	A	11: 69,564,923 (GRCm39)	N516Y	probably damaging	Het
Tfap2b	A	T	1: 19,284,599 (GRCm39)	H169L	possibly damaging	Het
Tmem260	A	G	14: 48,733,781 (GRCm39)	D226G	probably null	Het
Ttc6	G	T	12: 57,622,713 (GRCm39)	R37S	probably benign	Het
Vmn2r84	A	T	10: 130,222,392 (GRCm39)	D609E	possibly damaging	Het
Vmn2r99	A	T	17: 19,598,891 (GRCm39)	M192L	probably benign	Het
Zfp746	T	C	6: 48,041,703 (GRCm39)	D341G	probably damaging	Het
Zfp941	A	T	7: 140,391,384 (GRCm39)	H658Q	probably damaging	Het
Zw10	T	A	9: 48,978,105 (GRCm39)	I351N	probably damaging	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
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
R6486:Mpeg1	UTSW	19	12,439,469 (GRCm39)	missense	probably damaging	1.00
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'- GCAGAAGGGCATCACTAACC -3'
(R):5'- ACGACTGTAACCCTCTTCATG -3'

Sequencing Primer
(F):5'- CACCTAGTGGCAATAGACCGTG -3'
(R):5'- CCCTCTTCATGGGTCTGGGAG -3'

Posted On

2014-12-04