Mutagenetix > Incidental Mutation

Incidental Mutation 'R1714:Mpeg1'

190906

Institutional Source

Beutler Lab

Gene Symbol

Mpeg1

Ensembl Gene

ENSMUSG00000046805

Gene Name

macrophage expressed gene 1

Synonyms

MPS1, Perforin-2, Mpg-1

MMRRC Submission

039747-MU

Accession Numbers

Essential gene?

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

Stock #

R1714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12438143-12442647 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12440198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 552 (D552V)

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: D552V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108573
Gene: ENSMUSG00000046805
AA Change: D552V

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: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,464,479 (GRCm39)	T892I	possibly damaging	Het
Abcb11	A	C	2: 69,136,925 (GRCm39)	F179V	probably damaging	Het
Adgrg6	G	T	10: 14,315,514 (GRCm39)	Q597K	possibly damaging	Het
Ankmy1	G	T	1: 92,812,916 (GRCm39)	Y464*	probably null	Het
Apba1	G	A	19: 23,922,316 (GRCm39)	E795K	possibly damaging	Het
Aqp12	T	A	1: 92,934,681 (GRCm39)	V186D	possibly damaging	Het
Brd8	A	T	18: 34,742,886 (GRCm39)	S253R	probably damaging	Het
Cdc42se2	A	T	11: 54,631,112 (GRCm39)	S2R	possibly damaging	Het
Chd9	A	C	8: 91,760,853 (GRCm39)		probably benign	Het
Clk4	C	T	11: 51,171,245 (GRCm39)	H219Y	probably damaging	Het
Cngb1	A	G	8: 95,984,559 (GRCm39)	Y417H	probably damaging	Het
Cr2	A	T	1: 194,833,994 (GRCm39)	F932I	possibly damaging	Het
Cxxc1	C	A	18: 74,352,934 (GRCm39)	R415S	probably damaging	Het
Dclk2	G	A	3: 86,813,400 (GRCm39)	A182V	probably benign	Het
Ddx11	T	G	17: 66,455,754 (GRCm39)	W718G	probably damaging	Het
Dmd	A	C	X: 83,008,356 (GRCm39)	T2069P	probably benign	Het
Dnai1	T	C	4: 41,632,164 (GRCm39)	F533L	probably benign	Het
Dnajc5b	A	T	3: 19,633,265 (GRCm39)	R163*	probably null	Het
Dynll2	T	A	11: 87,874,838 (GRCm39)		probably null	Het
Ercc5	A	G	1: 44,206,499 (GRCm39)	T471A	probably benign	Het
Fan1	T	C	7: 64,016,435 (GRCm39)	D563G	probably benign	Het
Fbxo34	A	G	14: 47,766,658 (GRCm39)	Y6C	probably damaging	Het
Fcrl5	T	A	3: 87,353,713 (GRCm39)	S353T	probably damaging	Het
Gabrb3	A	T	7: 57,415,176 (GRCm39)	Y82F	probably damaging	Het
Gm20939	C	A	17: 95,183,234 (GRCm39)	P157T	probably damaging	Het
H2bc1	T	C	13: 24,117,935 (GRCm39)	T69A	probably benign	Het
Haus3	A	T	5: 34,321,041 (GRCm39)	H468Q	probably benign	Het
Il20ra	T	C	10: 19,631,576 (GRCm39)	V259A	probably damaging	Het
Isg15	A	T	4: 156,284,414 (GRCm39)	V38E	probably damaging	Het
Kcnq3	A	G	15: 65,871,912 (GRCm39)	S586P	probably benign	Het
Kl	A	T	5: 150,876,798 (GRCm39)	Y206F	probably benign	Het
Klk1b24	C	A	7: 43,840,939 (GRCm39)	D122E	probably damaging	Het
Kmt2d	A	C	15: 98,760,831 (GRCm39)	S840A	unknown	Het
Krt34	A	G	11: 99,930,953 (GRCm39)	S150P	possibly damaging	Het
Lamc3	A	G	2: 31,830,769 (GRCm39)	K1502R	probably benign	Het
Letm1	G	T	5: 33,918,228 (GRCm39)	R306S	possibly damaging	Het
Lnx1	C	T	5: 74,768,398 (GRCm39)	G397S	probably null	Het
Lrrc8c	A	G	5: 105,755,157 (GRCm39)	T311A	possibly damaging	Het
Myh11	C	T	16: 14,054,232 (GRCm39)		probably null	Het
Ndufa9	T	C	6: 126,799,154 (GRCm39)		probably null	Het
Or4e5	A	C	14: 52,727,871 (GRCm39)		probably null	Het
Or4f4b	A	T	2: 111,314,008 (GRCm39)	I78F	probably damaging	Het
Or8s8	G	A	15: 98,354,614 (GRCm39)	C141Y	probably damaging	Het
Polr3d	A	C	14: 70,678,755 (GRCm39)	M117R	possibly damaging	Het
Ppp5c	T	C	7: 16,742,628 (GRCm39)	I237V	probably benign	Het
Prrc2c	G	A	1: 162,504,945 (GRCm39)	T2632M	probably damaging	Het
Ptprg	C	A	14: 12,213,697 (GRCm38)	Q1022K	probably damaging	Het
Pus10	T	A	11: 23,675,542 (GRCm39)	H471Q	probably damaging	Het
Ralgapa1	A	G	12: 55,689,174 (GRCm39)	V1928A	probably damaging	Het
Rbpms2	CACT	CACTACT	9: 65,558,947 (GRCm39)		probably benign	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rfpl4	T	G	7: 5,113,357 (GRCm39)	T269P	probably benign	Het
Rgs10	A	G	7: 128,004,946 (GRCm39)	V72A	probably damaging	Het
Rsph1	T	C	17: 31,474,190 (GRCm39)	N289S	probably benign	Het
Sbk2	T	C	7: 4,966,121 (GRCm39)	D21G	probably benign	Het
Shbg	A	T	11: 69,507,983 (GRCm39)	D127E	possibly damaging	Het
Spag16	A	G	1: 69,882,164 (GRCm39)	E52G	probably damaging	Het
Ssh2	G	A	11: 77,344,850 (GRCm39)	G945D	possibly damaging	Het
Sstr3	A	T	15: 78,424,473 (GRCm39)	D91E	probably damaging	Het
Syne2	C	A	12: 76,101,713 (GRCm39)	A669E	probably benign	Het
Traf3	A	G	12: 111,208,907 (GRCm39)	I109V	probably benign	Het
Ube2j1	A	G	4: 33,049,886 (GRCm39)	T295A	probably damaging	Het
Usp46	A	G	5: 74,163,828 (GRCm39)	V276A	probably benign	Het
Vmn1r200	T	C	13: 22,579,640 (GRCm39)	S139P	possibly damaging	Het
Ydjc	G	A	16: 16,965,663 (GRCm39)	V143M	probably damaging	Het
Zfp169	T	C	13: 48,652,330 (GRCm39)	E29G	probably benign	Het
Zfp292	A	G	4: 34,808,935 (GRCm39)	S1370P	probably damaging	Het
Zfp763	C	T	17: 33,238,591 (GRCm39)	D185N	probably damaging	Het
Zfp827	A	T	8: 79,787,202 (GRCm39)	N123Y	probably damaging	Het
Zfp979	A	T	4: 147,698,442 (GRCm39)	I89N	probably damaging	Het
Zfr2	T	C	10: 81,080,583 (GRCm39)	L419P	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
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
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'- AATGCACAGTCATGCCCAGCAG -3'
(R):5'- AAAGTGATTCCAGCAGCTTCCCC -3'

Sequencing Primer
(F):5'- TCATGCCCAGCAGGCTAC -3'
(R):5'- ATCCTTAATCCAGGATCTGGCAG -3'

Posted On

2014-05-14