Mutagenetix > Incidental Mutation

Incidental Mutation 'R8388:Mpeg1'

647259

Institutional Source

Beutler Lab

Gene Symbol

Mpeg1

Ensembl Gene

ENSMUSG00000046805

Gene Name

macrophage expressed gene 1

Synonyms

MPS1, Perforin-2, Mpg-1

MMRRC Submission

067753-MU

Accession Numbers

Essential gene?

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

Stock #

R8388 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12438143-12442647 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12440278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 579 (S579P)

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: S579P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: S579P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430015G10Rik	T	A	4: 156,209,888 (GRCm39)	Y173N	probably damaging	Het
A2ml1	T	C	6: 128,548,937 (GRCm39)	T282A	probably benign	Het
Adamdec1	A	T	14: 68,810,684 (GRCm39)	Y157*	probably null	Het
Adgre5	A	G	8: 84,456,815 (GRCm39)	Y189H	probably damaging	Het
Alg11	G	A	8: 22,552,050 (GRCm39)	V65I	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Camk2b	C	T	11: 5,939,026 (GRCm39)	V278M	probably damaging	Het
Ccdc57	G	A	11: 120,717,744 (GRCm39)	P950L	probably benign	Het
Cep68	A	T	11: 20,180,582 (GRCm39)	V683D	probably damaging	Het
Chd6	A	T	2: 160,861,571 (GRCm39)	I493N	probably damaging	Het
Cyfip1	A	G	7: 55,521,873 (GRCm39)	Y59C	probably damaging	Het
Dclk3	A	G	9: 111,311,813 (GRCm39)	E685G	probably damaging	Het
Edaradd	A	T	13: 12,498,484 (GRCm39)	S78T	probably benign	Het
Edc4	T	C	8: 106,614,139 (GRCm39)	V430A	probably damaging	Het
Efr3a	T	C	15: 65,738,671 (GRCm39)	S767P	probably benign	Het
Enkd1	T	C	8: 106,431,025 (GRCm39)	Q234R	probably damaging	Het
Ercc6	ACGGTACCG	ACGGTACCGGTACCG	14: 32,292,297 (GRCm39)		probably benign	Het
Hipk2	T	A	6: 38,722,630 (GRCm39)	Y468F	probably damaging	Het
Ifi207	GTT	GT	1: 173,557,016 (GRCm39)		probably null	Het
Kcna5	A	G	6: 126,511,588 (GRCm39)	V180A	probably benign	Het
Kcnb1	T	C	2: 166,947,217 (GRCm39)	I544V	probably benign	Het
Kif21a	A	G	15: 90,843,327 (GRCm39)	S1119P	possibly damaging	Het
Klk13	T	C	7: 43,373,235 (GRCm39)	C190R	probably damaging	Het
Mga	T	C	2: 119,794,562 (GRCm39)	S2749P	probably benign	Het
Msh3	A	T	13: 92,359,784 (GRCm39)	I903K	probably damaging	Het
Or4s2	T	A	2: 88,473,305 (GRCm39)	S65T	probably damaging	Het
Ptx4	T	C	17: 25,339,897 (GRCm39)	S25P	probably damaging	Het
Sipa1l1	G	T	12: 82,216,259 (GRCm39)		probably benign	Het
Slfn9	G	C	11: 82,878,112 (GRCm39)	T339R	probably benign	Het
Srsf12	C	G	4: 33,226,070 (GRCm39)	P111R	probably damaging	Het
Tex15	A	G	8: 34,065,237 (GRCm39)	I1556V	probably benign	Het
Ttc14	A	G	3: 33,854,735 (GRCm39)	N21D	probably benign	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
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
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'- CTCAAGGTATGTGTGTCCCTG -3'
(R):5'- ATGACTGTCATGGCCCTACG -3'

Sequencing Primer
(F):5'- CAAGGTATGTGTGTCCCTGGATTATG -3'
(R):5'- AAGCTCCAGAGGTTCTCCCAG -3'

Posted On

2020-09-02