Mutagenetix > Incidental Mutation

Incidental Mutation 'R1170:Mppe1'

99357

Institutional Source

Beutler Lab

Gene Symbol

Mppe1

Ensembl Gene

ENSMUSG00000062526

Gene Name

metallophosphoesterase 1

Synonyms

MMRRC Submission

039243-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R1170 (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 67227706 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 254 (Y254C)

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 damaging
Transcript: ENSMUST00000073054
AA Change: Y254C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072808
Gene: ENSMUSG00000062526
AA Change: Y254C

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

0.7364

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (105/105)

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	A	G	1: 151,980,412 (GRCm38)		probably benign	Het
Akap9	G	A	5: 4,055,671 (GRCm38)	S2914N	probably benign	Het
Alk	T	C	17: 71,900,734 (GRCm38)	D1002G	probably damaging	Het
Ap3d1	A	G	10: 80,732,840 (GRCm38)		probably benign	Het
Asb15	T	C	6: 24,562,487 (GRCm38)		probably benign	Het
Asxl3	C	A	18: 22,524,507 (GRCm38)	P1858Q	probably benign	Het
Bltp1	T	C	3: 37,044,631 (GRCm38)	S1136P	probably damaging	Het
Bud31	T	A	5: 145,142,578 (GRCm38)		probably benign	Het
C1qtnf1	G	T	11: 118,448,269 (GRCm38)	R255L	probably damaging	Het
Cacna2d4	C	T	6: 119,307,286 (GRCm38)	R745W	probably damaging	Het
Cage1	C	T	13: 38,022,880 (GRCm38)	E330K	probably damaging	Het
Catsperz	T	A	19: 6,924,949 (GRCm38)	N59I	probably benign	Het
Ccdc110	G	T	8: 45,941,885 (GRCm38)	S271I	probably benign	Het
Ccdc88b	T	A	19: 6,853,213 (GRCm38)	E787V	probably damaging	Het
Ccna2	A	T	3: 36,568,970 (GRCm38)		probably benign	Het
Cd36	T	A	5: 17,813,088 (GRCm38)	D209V	probably damaging	Het
Cers4	T	A	8: 4,519,475 (GRCm38)	W161R	probably damaging	Het
Ces2f	T	A	8: 104,953,546 (GRCm38)	H442Q	probably damaging	Het
Chchd6	A	C	6: 89,384,687 (GRCm38)	C245G	probably damaging	Het
Cndp1	T	G	18: 84,611,625 (GRCm38)	Q481P	probably benign	Het
Col3a1	A	G	1: 45,327,601 (GRCm38)	R234G	unknown	Het
Col3a1	A	T	1: 45,347,724 (GRCm38)	N232I	probably damaging	Het
Colgalt2	A	T	1: 152,503,017 (GRCm38)	D398V	probably damaging	Het
Cxcl10	TACTCAC	TACTCACTCAC	5: 92,348,082 (GRCm38)		probably null	Het
Dcdc2a	C	A	13: 25,056,307 (GRCm38)	Q13K	probably benign	Het
Dzip3	A	T	16: 48,961,208 (GRCm38)	I240N	probably damaging	Het
Epb41l3	T	A	17: 69,259,180 (GRCm38)	L452*	probably null	Het
Fam193b	C	T	13: 55,541,705 (GRCm38)	A753T	probably damaging	Het
Fam47e	G	C	5: 92,565,922 (GRCm38)		probably benign	Het
Fastkd1	A	G	2: 69,708,649 (GRCm38)		probably benign	Het
Fmnl1	G	A	11: 103,197,370 (GRCm38)	G69D	probably benign	Het
Foxn2	A	G	17: 88,473,666 (GRCm38)		probably benign	Het
Fsip2	A	G	2: 82,991,500 (GRCm38)	E5859G	possibly damaging	Het
Gm9894	T	A	13: 67,764,701 (GRCm38)		noncoding transcript	Het
H2-Bl	T	C	17: 36,081,091 (GRCm38)	N44S	possibly damaging	Het
Helz2	T	C	2: 181,229,815 (GRCm38)	Y2668C	probably damaging	Het
Hhipl1	T	A	12: 108,311,693 (GRCm38)	C93*	probably null	Het
Lig1	C	T	7: 13,292,153 (GRCm38)	A278V	probably benign	Het
Lipn	T	A	19: 34,071,758 (GRCm38)	I108K	probably benign	Het
Lsamp	A	G	16: 42,151,229 (GRCm38)		probably benign	Het
Map3k14	A	G	11: 103,238,917 (GRCm38)		probably benign	Het
Mdm4	A	T	1: 132,991,820 (GRCm38)	C436S	probably damaging	Het
Mdm4	A	G	1: 133,012,692 (GRCm38)	L33P	probably damaging	Het
Meiob	T	C	17: 24,836,484 (GRCm38)	W422R	probably damaging	Het
Mterf1a	A	T	5: 3,890,964 (GRCm38)	N301K	probably benign	Het
Muc6	C	T	7: 141,644,233 (GRCm38)	S1210N	probably damaging	Het
Mycbp2	A	T	14: 103,200,152 (GRCm38)	Y2091*	probably null	Het
Mylk	G	A	16: 34,874,039 (GRCm38)	R156H	probably benign	Het
Myo15a	G	T	11: 60,479,407 (GRCm38)	D998Y	probably benign	Het
Neb	A	T	2: 52,196,357 (GRCm38)	Y5235N	probably damaging	Het
Nop58	A	G	1: 59,704,211 (GRCm38)		probably benign	Het
Nr4a3	A	G	4: 48,051,564 (GRCm38)	H135R	probably damaging	Het
Nr4a3	A	G	4: 48,083,324 (GRCm38)	K619R	probably benign	Het
Nrg1	T	C	8: 31,837,667 (GRCm38)		probably benign	Het
Odr4	T	A	1: 150,386,391 (GRCm38)	E99D	probably benign	Het
Or4f59	A	T	2: 112,042,215 (GRCm38)	D272E	probably benign	Het
Or5b122	T	C	19: 13,586,213 (GRCm38)	V260A	probably benign	Het
Or5m8	A	T	2: 85,992,696 (GRCm38)	N293I	probably damaging	Het
Or8g24	T	A	9: 39,078,229 (GRCm38)	D172V	possibly damaging	Het
Parp3	T	C	9: 106,476,005 (GRCm38)		probably benign	Het
Pde2a	A	G	7: 101,484,543 (GRCm38)	E103G	probably benign	Het
Pds5a	A	T	5: 65,635,302 (GRCm38)		probably benign	Het
Pip4k2c	A	G	10: 127,211,393 (GRCm38)	V40A	unknown	Het
Pitrm1	T	C	13: 6,552,744 (GRCm38)		probably benign	Het
Plk4	A	G	3: 40,801,847 (GRCm38)	I64M	probably damaging	Het
Ppp1r16a	C	T	15: 76,693,669 (GRCm38)	Q328*	probably null	Het
Ppp2r1a	T	C	17: 20,951,331 (GRCm38)		probably benign	Het
Ppp4r3b	T	A	11: 29,209,426 (GRCm38)	N172K	probably damaging	Het
Prkcg	G	A	7: 3,319,661 (GRCm38)	R357Q	probably damaging	Het
Prmt3	T	C	7: 49,848,547 (GRCm38)		probably null	Het
Prx	T	A	7: 27,518,007 (GRCm38)	C644*	probably null	Het
Ptpru	A	G	4: 131,808,527 (GRCm38)		probably benign	Het
Rbm5	A	T	9: 107,742,497 (GRCm38)	D738E	probably damaging	Het
Recql5	A	T	11: 115,897,234 (GRCm38)	Y420N	probably damaging	Het
Rnf17	T	C	14: 56,425,631 (GRCm38)	I152T	probably benign	Het
Rnpepl1	A	G	1: 92,919,195 (GRCm38)	S580G	possibly damaging	Het
Ryr3	C	T	2: 112,946,987 (GRCm38)	G275D	probably damaging	Het
Serpinb9e	T	A	13: 33,257,752 (GRCm38)	Y222*	probably null	Het
Shld2	A	T	14: 34,268,491 (GRCm38)	S153T	possibly damaging	Het
Slc10a1	T	A	12: 80,956,028 (GRCm38)	I279F	probably damaging	Het
Slc12a8	G	T	16: 33,662,977 (GRCm38)	G584V	probably damaging	Het
Slc35b3	T	A	13: 38,937,331 (GRCm38)	Y311F	probably benign	Het
Slc44a5	A	G	3: 154,257,720 (GRCm38)		probably null	Het
Slc6a9	A	G	4: 117,864,806 (GRCm38)	E422G	possibly damaging	Het
Smpd2	A	G	10: 41,488,732 (GRCm38)		probably null	Het
Spast	A	G	17: 74,381,968 (GRCm38)		probably null	Het
Spink5	A	T	18: 43,983,563 (GRCm38)	E208V	probably benign	Het
Stag1	T	C	9: 100,888,453 (GRCm38)		probably benign	Het
Stambp	A	G	6: 83,563,821 (GRCm38)		probably null	Het
Sult3a2	A	T	10: 33,777,192 (GRCm38)	M184K	possibly damaging	Het
Tcp11	T	C	17: 28,071,662 (GRCm38)	D162G	probably damaging	Het
Themis	A	C	10: 28,668,748 (GRCm38)	E30A	possibly damaging	Het
Tmc7	G	A	7: 118,551,260 (GRCm38)	S350L	probably benign	Het
Tmem131	A	T	1: 36,834,898 (GRCm38)	Y271*	probably null	Het
Trim35	T	A	14: 66,308,799 (GRCm38)	S338R	probably benign	Het
Trim42	C	A	9: 97,363,620 (GRCm38)	V376F	probably benign	Het
Tshr	A	T	12: 91,538,097 (GRCm38)	K11M	probably damaging	Het
Vps8	A	G	16: 21,459,820 (GRCm38)		probably benign	Het
Wdr11	T	C	7: 129,607,107 (GRCm38)		probably benign	Het
Wdr26	A	T	1: 181,181,294 (GRCm38)		probably benign	Het
Wdtc1	A	G	4: 133,297,546 (GRCm38)	Y447H	probably damaging	Het
Zfp687	C	T	3: 95,008,473 (GRCm38)	C996Y	probably damaging	Het
Zfp984	A	T	4: 147,755,989 (GRCm38)	V135E	probably benign	Het
Zranb2	T	C	3: 157,541,865 (GRCm38)		probably benign	Het

Other mutations in Mppe1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Mppe1	APN	18	67,237,444 (GRCm38)	nonsense	probably null
IGL03028:Mppe1	APN	18	67,227,684 (GRCm38)	missense	probably damaging	1.00
R0087:Mppe1	UTSW	18	67,225,704 (GRCm38)	makesense	probably null
R0538:Mppe1	UTSW	18	67,237,477 (GRCm38)	missense	probably damaging	1.00
R0552:Mppe1	UTSW	18	67,237,348 (GRCm38)	critical splice donor site	probably null
R1970:Mppe1	UTSW	18	67,229,772 (GRCm38)	missense	probably benign	0.07
R2229:Mppe1	UTSW	18	67,228,011 (GRCm38)	critical splice donor site	probably null
R3874:Mppe1	UTSW	18	67,225,886 (GRCm38)	critical splice acceptor site	probably null
R4194:Mppe1	UTSW	18	67,228,068 (GRCm38)	missense	probably benign	0.27
R4775:Mppe1	UTSW	18	67,226,859 (GRCm38)	missense	possibly damaging	0.96
R4940:Mppe1	UTSW	18	67,228,024 (GRCm38)	missense	probably damaging	1.00
R4974:Mppe1	UTSW	18	67,228,062 (GRCm38)	missense	probably benign
R4979:Mppe1	UTSW	18	67,229,702 (GRCm38)	missense	probably damaging	1.00
R5768:Mppe1	UTSW	18	67,225,818 (GRCm38)	missense	possibly damaging	0.87
R5784:Mppe1	UTSW	18	67,228,027 (GRCm38)	missense	probably benign	0.12
R5895:Mppe1	UTSW	18	67,225,763 (GRCm38)	missense	probably benign	0.00
R6547:Mppe1	UTSW	18	67,228,988 (GRCm38)	missense	probably benign
R7161:Mppe1	UTSW	18	67,229,771 (GRCm38)	missense	probably benign	0.10
R7580:Mppe1	UTSW	18	67,237,417 (GRCm38)	missense	probably damaging	0.99
R7699:Mppe1	UTSW	18	67,225,704 (GRCm38)	makesense	probably null
R7700:Mppe1	UTSW	18	67,225,704 (GRCm38)	makesense	probably null
R7908:Mppe1	UTSW	18	67,228,984 (GRCm38)	missense	probably benign	0.01
R8399:Mppe1	UTSW	18	67,225,875 (GRCm38)	missense	probably benign	0.17
R8896:Mppe1	UTSW	18	67,237,401 (GRCm38)	missense	probably damaging	1.00
R9002:Mppe1	UTSW	18	67,225,854 (GRCm38)	missense	possibly damaging	0.96

Predicted Primers

Posted On

2014-01-15