Mutagenetix > Incidental Mutation

Incidental Mutation 'R5768:Mppe1'

446407

Institutional Source

Beutler Lab

Gene Symbol

Mppe1

Ensembl Gene

ENSMUSG00000062526

Gene Name

metallophosphoesterase 1

Synonyms

MMRRC Submission

043368-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R5768 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67225530-67245830 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 67225818 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 360 (T360P)

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

possibly damaging
Transcript: ENSMUST00000073054
AA Change: T360P

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072808
Gene: ENSMUSG00000062526
AA Change: T360P

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,127,426	T561I	probably benign	Het
Akp3	T	C	1: 87,127,122	I393T	probably damaging	Het
Atxn10	A	T	15: 85,393,420	I363F	probably benign	Het
BC004004	A	T	17: 29,282,735	S83C	probably damaging	Het
Bin1	T	A	18: 32,426,211		probably null	Het
Cacna1c	A	G	6: 118,697,680	I541T	probably damaging	Het
Cand1	A	G	10: 119,211,005	V860A	probably benign	Het
Ccdc69	T	C	11: 55,055,030	N50S	possibly damaging	Het
Cd209d	T	A	8: 3,871,968	T235S	probably benign	Het
Cdhr3	G	T	12: 33,046,686	T591K	possibly damaging	Het
Cherp	C	T	8: 72,463,113	D658N	probably damaging	Het
Clip4	T	A	17: 71,806,499		probably null	Het
Cryzl1	C	T	16: 91,695,354	V195M	probably damaging	Het
Cst11	A	T	2: 148,770,467	Y83*	probably null	Het
Ddb2	T	C	2: 91,211,992	S419G	possibly damaging	Het
Ddi2	A	T	4: 141,685,590	L4M	probably damaging	Het
Dip2b	C	A	15: 100,157,945	P393T	probably benign	Het
Dnmt3a	G	A	12: 3,885,660		probably null	Het
Elf5	C	T	2: 103,449,022	S196L	probably damaging	Het
Eps15	C	G	4: 109,363,176		probably null	Het
Fra10ac1	T	C	19: 38,207,286	E163G	probably benign	Het
Gc	T	C	5: 89,441,266	T213A	probably damaging	Het
Grpel1	A	T	5: 36,465,159		probably benign	Het
Gsdme	G	A	6: 50,219,300	Q377*	probably null	Het
Hira	T	C	16: 18,935,018		probably benign	Het
Hsd11b1	T	A	1: 193,240,246	I168F	probably damaging	Het
Htr6	G	A	4: 139,061,704	R347W	probably damaging	Het
Ipp	A	C	4: 116,510,770	T67P	probably damaging	Het
Lrfn5	G	A	12: 61,839,723	R99Q	probably benign	Het
Madd	T	A	2: 91,167,829	I649F	probably damaging	Het
Map2k7	T	A	8: 4,245,757	D368E	probably benign	Het
Msi2	A	G	11: 88,717,738	F2L	probably damaging	Het
Nectin3	T	C	16: 46,458,817	Q266R	probably damaging	Het
Nfasc	T	C	1: 132,605,145	H691R	probably benign	Het
Olfr1222	T	C	2: 89,125,449	E94G	probably benign	Het
Olfr194	TGAAGAAGAA	TGAAGAA	16: 59,119,972		probably benign	Het
Oprm1	G	A	10: 6,789,026	G51D	probably damaging	Het
Papss2	G	A	19: 32,660,719		probably null	Het
Pi4ka	T	C	16: 17,354,872	K549E	probably benign	Het
Plekha6	A	G	1: 133,280,378	T596A	probably benign	Het
Polr2f	A	G	15: 79,151,645	D117G	probably damaging	Het
Psd	T	C	19: 46,312,739	E381G	possibly damaging	Het
Rfx6	G	A	10: 51,726,880	R831H	probably damaging	Het
Rpp25l	A	T	4: 41,712,649	L42Q	probably damaging	Het
Ryr3	T	C	2: 112,753,097	M2810V	probably benign	Het
Sdk1	C	A	5: 142,143,871	L1616I	probably benign	Het
Spock2	T	A	10: 60,126,207	F215I	probably damaging	Het
Susd2	C	T	10: 75,638,019	A581T	probably damaging	Het
Tchh	A	T	3: 93,446,181	E976V	unknown	Het
Tgfbr3	T	C	5: 107,149,895	E213G	probably benign	Het
Tmed1	T	C	9: 21,509,323	D71G	probably benign	Het
Tmtc4	T	A	14: 122,933,153	K527N	possibly damaging	Het
Zfhx2	T	C	14: 55,074,365	T291A	probably benign	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
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'- ATAGGAACAACCAGCATTTGC -3'
(R):5'- GTCGTGGGTAAAGAGGTCTC -3'

Sequencing Primer
(F):5'- CTCGCTGGAAGTCCTATAGGTC -3'
(R):5'- GAGGTCTCTTCCCTCCCAGAC -3'

Posted On

2016-11-21