Mutagenetix > Incidental Mutations

Incidental Mutation 'R5784:Mppe1'

447940

Institutional Source

Beutler Lab

Gene Symbol

Mppe1

Ensembl Gene

ENSMUSG00000062526

Gene Name

metallophosphoesterase 1

Synonyms

MMRRC Submission

043381-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5784 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67225530-67245830 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67228027 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 220 (N220D)

Ref Sequence

ENSEMBL: ENSMUSP00000072808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025402] [ENSMUST00000073054] [ENSMUST00000076605]

Predicted Effect

probably benign
Transcript: ENSMUST00000025402

SMART Domains

Protein: ENSMUSP00000025402
Gene: ENSMUSG00000024524

Domain	Start	End	E-Value	Type
low complexity region	32	46	N/A	INTRINSIC
G_alpha	89	447	1.18e-172	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000073054
AA Change: N220D

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000072808
Gene: ENSMUSG00000062526
AA Change: N220D

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:Metallophos	68	308	3.3e-13	PFAM
transmembrane domain	358	380	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000076605

SMART Domains

Protein: ENSMUSP00000075908
Gene: ENSMUSG00000024524

Domain	Start	End	E-Value	Type
G_alpha	22	380	5.02e-176	SMART

Meta Mutation Damage Score

0.2179

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 79,067,607	R292G	possibly damaging	Het
4932416K20Rik	T	A	8: 104,797,629		noncoding transcript	Het
Aox3	A	G	1: 58,153,499	D544G	probably benign	Het
Atg2a	C	A	19: 6,261,505	A1830D	probably damaging	Het
Casp1	T	C	9: 5,299,337	I22T	probably damaging	Het
Ccdc141	A	C	2: 77,029,327	L990W	probably damaging	Het
Cnbd2	A	G	2: 156,338,657	T125A	probably damaging	Het
Cnep1r1	T	A	8: 88,130,726		probably benign	Het
Dhx38	G	T	8: 109,559,613	Y348*	probably null	Het
Dnah7c	A	T	1: 46,524,068	I593L	possibly damaging	Het
Dpep3	T	C	8: 105,978,743	D125G	probably benign	Het
Epb41l4b	A	C	4: 57,086,003	S191A	probably damaging	Het
Etl4	A	G	2: 20,806,205	Y1033C	possibly damaging	Het
Fam193a	T	C	5: 34,466,223	L32P	probably damaging	Het
Gm8332	T	A	12: 88,249,755	N116Y	probably damaging	Het
Grin2c	T	C	11: 115,258,295	E159G	possibly damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Hdhd2	A	T	18: 76,967,145	D205V	probably damaging	Het
Helz	T	A	11: 107,670,481	N774K	unknown	Het
Idh3b	A	G	2: 130,279,671	V71A	probably damaging	Het
Lars	T	C	18: 42,219,899	M818V	probably benign	Het
Ltbp2	A	G	12: 84,868,739	V162A	probably damaging	Het
Ltk	G	A	2: 119,754,359	Q136*	probably null	Het
Mafb	A	T	2: 160,366,541	C46S	probably damaging	Het
Map1s	T	C	8: 70,914,358	S636P	probably damaging	Het
Map3k13	A	G	16: 21,898,641	K209E	possibly damaging	Het
Mydgf	T	C	17: 56,178,254		probably benign	Het
Myh6	T	C	14: 54,953,064	K999E	possibly damaging	Het
Nemp1	T	A	10: 127,677,198	V34D	possibly damaging	Het
Npr2	A	G	4: 43,632,801	E206G	probably benign	Het
Olfr1497	A	T	19: 13,795,346	H88Q	probably benign	Het
Olfr248	G	A	1: 174,391,399	C110Y	probably damaging	Het
Olfr309	T	C	7: 86,306,535	N193D	probably damaging	Het
Papln	A	G	12: 83,781,980	N820S	probably benign	Het
Pcdh10	T	G	3: 45,380,640	F463C	probably damaging	Het
Pde7a	A	G	3: 19,264,845	V12A	probably benign	Het
Radil	G	T	5: 142,487,513	H804Q	possibly damaging	Het
Rbfox1	A	T	16: 7,224,339	D39V	probably damaging	Het
Rims2	T	G	15: 39,535,987		probably null	Het
Rnf121	A	G	7: 102,035,376	F110S	probably benign	Het
Saxo2	C	T	7: 82,634,874	V259I	probably benign	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc2a3	A	T	6: 122,735,417		probably null	Het
Traf2	A	T	2: 25,539,037	V6E	probably benign	Het
Trim43c	A	T	9: 88,847,643	N379I	probably benign	Het
Ubr4	C	G	4: 139,425,218	C1973W	probably damaging	Het
Unc13a	G	T	8: 71,655,666	D514E	possibly damaging	Het
Wdr27	T	A	17: 14,926,233	T167S	probably damaging	Het
Zfp174	A	T	16: 3,854,574	E329V	probably benign	Het
Zfp422	A	T	6: 116,626,810	I76N	probably damaging	Het

Other mutations in Mppe1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Mppe1	APN	18	67237444	nonsense	probably null
IGL03028:Mppe1	APN	18	67227684	missense	probably damaging	1.00
R0087:Mppe1	UTSW	18	67225704	makesense	probably null
R0538:Mppe1	UTSW	18	67237477	missense	probably damaging	1.00
R0552:Mppe1	UTSW	18	67237348	critical splice donor site	probably null
R1170:Mppe1	UTSW	18	67227706	missense	probably damaging	1.00
R1970:Mppe1	UTSW	18	67229772	missense	probably benign	0.07
R2229:Mppe1	UTSW	18	67228011	critical splice donor site	probably null
R3874:Mppe1	UTSW	18	67225886	critical splice acceptor site	probably null
R4194:Mppe1	UTSW	18	67228068	missense	probably benign	0.27
R4775:Mppe1	UTSW	18	67226859	missense	possibly damaging	0.96
R4940:Mppe1	UTSW	18	67228024	missense	probably damaging	1.00
R4974:Mppe1	UTSW	18	67228062	missense	probably benign
R4979:Mppe1	UTSW	18	67229702	missense	probably damaging	1.00
R5768:Mppe1	UTSW	18	67225818	missense	possibly damaging	0.87
R5895:Mppe1	UTSW	18	67225763	missense	probably benign	0.00
R6547:Mppe1	UTSW	18	67228988	missense	probably benign
R7161:Mppe1	UTSW	18	67229771	missense	probably benign	0.10
R7580:Mppe1	UTSW	18	67237417	missense	probably damaging	0.99
R7699:Mppe1	UTSW	18	67225704	makesense	probably null
R7700:Mppe1	UTSW	18	67225704	makesense	probably null
R7908:Mppe1	UTSW	18	67228984	missense	probably benign	0.01
R8399:Mppe1	UTSW	18	67225875	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TCTCAGAAACTCCTGGTGGC -3'
(R):5'- TGCATGATGTTTCCATGGGGAC -3'

Sequencing Primer
(F):5'- GCTCACGGTCACACTGAC -3'
(R):5'- CCATGGGGACAAGGGCAC -3'

Posted On

2016-12-15