Mutagenetix > Incidental Mutations

Incidental Mutation 'R0087:Mppe1'

19987

Institutional Source

Beutler Lab

Gene Symbol

Mppe1

Ensembl Gene

ENSMUSG00000062526

Gene Name

metallophosphoesterase 1

Synonyms

MMRRC Submission

038374-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R0087 (G1)

Quality Score

123

Status

Validated (trace)

Chromosome

Chromosomal Location

67225530-67245830 bp(-) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 67225704 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 398 (*398R)

Ref Sequence

ENSEMBL: ENSMUSP00000072808 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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 null
Transcript: ENSMUST00000073054
AA Change: *398R

SMART Domains

Protein: ENSMUSP00000072808
Gene: ENSMUSG00000062526
AA Change: *398R

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

0.8389

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.5%
20x: 82.3%

Validation Efficiency

86% (59/69)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add3	T	A	19: 53,226,607	L71Q	probably damaging	Het
Adgrv1	T	A	13: 81,386,951	I5732F	probably damaging	Het
Adss	A	T	1: 177,771,222	V330E	probably benign	Het
Agps	T	A	2: 75,909,635	Y488N	probably damaging	Het
Ap3s1	A	T	18: 46,758,039	R66S	probably damaging	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Atp2a2	C	T	5: 122,460,961	V593I	probably benign	Het
Chrna6	C	T	8: 27,406,986	V288M	probably damaging	Het
Col4a2	C	T	8: 11,441,296	L1232F	probably benign	Het
Dcaf1	A	G	9: 106,863,089	N1225D	probably damaging	Het
Degs1	A	G	1: 182,279,310	I128T	probably benign	Het
Dnah5	A	T	15: 28,350,613	T2594S	probably damaging	Het
Dnah8	G	T	17: 30,755,119	R2826L	probably damaging	Het
Elf3	A	G	1: 135,257,137	Y104H	probably damaging	Het
Fam222b	C	A	11: 78,153,892	T93N	probably benign	Het
Fbxw26	A	G	9: 109,724,938	I211T	probably benign	Het
Fcho2	T	C	13: 98,735,086	T541A	probably benign	Het
Flg2	T	C	3: 93,202,431	S589P	unknown	Het
Foxj3	T	A	4: 119,626,400	V589E	unknown	Het
Gria1	A	G	11: 57,317,712	Y742C	probably damaging	Het
Inpp5d	T	C	1: 87,715,138	S672P	probably damaging	Het
Lrrc19	A	C	4: 94,640,772	F91C	probably damaging	Het
Lrrc6	T	C	15: 66,469,975	T91A	probably benign	Het
Mroh3	T	C	1: 136,190,803	I561V	probably benign	Het
Myh11	C	A	16: 14,224,019	Q720H	probably damaging	Het
Nbea	G	T	3: 56,091,023	T121K	possibly damaging	Het
Nbr1	A	C	11: 101,564,693	D91A	probably benign	Het
Ncam2	C	A	16: 81,434,901	N84K	probably benign	Het
Olfr1260	T	C	2: 89,978,131	Y118H	probably damaging	Het
Olfr616	A	T	7: 103,564,362	C306S	probably benign	Het
Olfr618	A	G	7: 103,597,721	Y135C	probably benign	Het
Olfr651	A	G	7: 104,553,662	I248V	possibly damaging	Het
Olfr711	A	G	7: 106,972,116	V76A	probably benign	Het
Pdgfrb	A	T	18: 61,061,513	I121F	probably damaging	Het
Peak1	A	T	9: 56,258,325	I773N	probably damaging	Het
Pfkfb4	G	T	9: 109,007,701	V155F	probably damaging	Het
Pkm	C	T	9: 59,678,099	R455*	probably null	Het
Plbd2	C	A	5: 120,494,485	E151*	probably null	Het
Pld5	G	A	1: 175,984,459	T353M	probably damaging	Het
Psme2b	A	T	11: 48,945,717	D134E	possibly damaging	Het
Rida	T	A	15: 34,488,626	D40V	possibly damaging	Het
Rnf126	A	T	10: 79,759,234	H265Q	probably damaging	Het
Rock2	C	A	12: 16,928,966	Q86K	probably benign	Het
Serpinb1b	A	T	13: 33,085,319	T12S	probably benign	Het
Slco6c1	T	A	1: 97,118,578	Q277L	probably benign	Het
Sptlc2	T	A	12: 87,369,118	H45L	probably benign	Het
Srsf4	A	G	4: 131,900,330		probably benign	Het
Sspo	A	G	6: 48,477,785	S2969G	probably damaging	Het
Steap1	C	T	5: 5,736,664	G258R	probably damaging	Het
Stk19	A	T	17: 34,836,875	M1K	probably null	Het
Stk-ps2	C	A	1: 46,029,889		noncoding transcript	Het
Taf1c	C	T	8: 119,600,987	R332H	probably damaging	Het
Thbs4	T	A	13: 92,755,235	T791S	probably damaging	Het
Theg	A	T	10: 79,585,951	Y144*	probably null	Het
Tjap1	A	G	17: 46,263,726	L21P	probably damaging	Het
Tmem145	A	G	7: 25,307,843	Y148C	probably damaging	Het
Tmem267	T	A	13: 119,609,274	V155E	probably benign	Het
Tns1	T	A	1: 73,916,917	H549L	possibly damaging	Het
Tyro3	T	G	2: 119,801,701	I83S	probably benign	Het
Ubxn4	G	A	1: 128,262,904	E256K	probably benign	Het
Vmn1r53	A	T	6: 90,223,431	C304S	probably benign	Het
Vwf	G	A	6: 125,645,954	M1761I	probably benign	Het
Zfp276	T	C	8: 123,265,047	Y445H	probably damaging	Het
Zfp407	A	T	18: 84,560,411	I859N	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
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
R5784:Mppe1	UTSW	18	67228027	missense	probably benign	0.12
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
R8896:Mppe1	UTSW	18	67237401	missense	probably damaging	1.00
R9002:Mppe1	UTSW	18	67225854	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CCTGTGGAAGAAAGGACTGTGTGTC -3'
(R):5'- GATTACGCTCTGTCCAAGTGCTACC -3'

Sequencing Primer
(F):5'- GGTAGTGTCCATGACATTTACATTCC -3'
(R):5'- AAGTGCTACCTCCCGTTTGAG -3'

Posted On

2013-04-11