Mutagenetix > Incidental Mutation

Incidental Mutation 'R6765:Mpped1'

531886

Institutional Source

Beutler Lab

Gene Symbol

Mpped1

Ensembl Gene

ENSMUSG00000041708

Gene Name

metallophosphoesterase domain containing 1

Synonyms

MMRRC Submission

044881-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R6765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83663668-83742695 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 83720584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 15 (V15M)

Ref Sequence

ENSEMBL: ENSMUSP00000126242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046168] [ENSMUST00000109470] [ENSMUST00000123387] [ENSMUST00000125739] [ENSMUST00000148868] [ENSMUST00000163723] [ENSMUST00000172115] [ENSMUST00000172398]

AlphaFold

Q91ZG2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046168
AA Change: V173M

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041981
Gene: ENSMUSG00000041708
AA Change: V173M

Domain	Start	End	E-Value	Type
Pfam:Metallophos	90	288	1e-13	PFAM
Pfam:Metallophos_2	91	314	8.3e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109470
AA Change: V173M

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105096
Gene: ENSMUSG00000041708
AA Change: V173M

Domain	Start	End	E-Value	Type
Pfam:Metallophos	90	288	1.9e-13	PFAM
Pfam:Metallophos_2	91	318	4.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123387

SMART Domains

Protein: ENSMUSP00000123230
Gene: ENSMUSG00000041708

Domain	Start	End	E-Value	Type
PDB:3RL3\|A	33	137	2e-54	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000125739
AA Change: V15M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131463
Gene: ENSMUSG00000041708
AA Change: V15M

Domain	Start	End	E-Value	Type
Pfam:Metallophos	5	130	2.2e-6	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000148868
AA Change: V90M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131679
Gene: ENSMUSG00000041708
AA Change: V90M

Domain	Start	End	E-Value	Type
Pfam:Metallophos	49	203	4.6e-9	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000150489
AA Change: V169M

SMART Domains

Protein: ENSMUSP00000128786
Gene: ENSMUSG00000041708
AA Change: V169M

Domain	Start	End	E-Value	Type
Pfam:Metallophos	87	217	6.7e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163723
AA Change: V15M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126242
Gene: ENSMUSG00000041708
AA Change: V15M

Domain	Start	End	E-Value	Type
Pfam:Metallophos	5	130	3e-6	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000171560
AA Change: V89M

SMART Domains

Protein: ENSMUSP00000125835
Gene: ENSMUSG00000041708
AA Change: V89M

Domain	Start	End	E-Value	Type
Pfam:Metallophos	7	147	2.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172115

SMART Domains

Protein: ENSMUSP00000132518
Gene: ENSMUSG00000041708

Domain	Start	End	E-Value	Type
PDB:3RL3\|A	33	136	1e-52	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000172398

SMART Domains

Protein: ENSMUSP00000131333
Gene: ENSMUSG00000041708

Domain	Start	End	E-Value	Type
PDB:3RL3\|A	33	140	2e-47	PDB
SCOP:d4kbpa2	84	133	9e-3	SMART

Meta Mutation Damage Score

0.1497

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	C	A	7: 82,216,232 (GRCm39)	D878E	possibly damaging	Het
Adipor2	A	C	6: 119,334,203 (GRCm39)	F336V	possibly damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Aoc1	A	G	6: 48,882,871 (GRCm39)	N249S	probably benign	Het
Ap1b1	T	A	11: 4,969,427 (GRCm39)	L261Q	probably damaging	Het
Ap3b1	T	A	13: 94,599,017 (GRCm39)	D530E	probably benign	Het
Arid4b	T	A	13: 14,361,900 (GRCm39)	M788K	possibly damaging	Het
Atp2c2	A	T	8: 120,479,756 (GRCm39)	I762F	probably damaging	Het
Bhlhe23	C	A	2: 180,418,136 (GRCm39)	R134L	probably damaging	Het
Cacna2d3	T	C	14: 28,777,934 (GRCm39)	D687G	probably damaging	Het
Ccdc136	G	A	6: 29,405,940 (GRCm39)	M95I	probably benign	Het
Cdk12	T	A	11: 98,115,355 (GRCm39)	I832N	unknown	Het
Clcn2	A	C	16: 20,526,418 (GRCm39)		probably null	Het
Csrnp2	C	T	15: 100,380,574 (GRCm39)	R239Q	probably damaging	Het
Dhrs13	T	A	11: 77,927,965 (GRCm39)	D270E	probably benign	Het
Dlgap2	G	A	8: 14,793,284 (GRCm39)	G426D	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Fam120a	A	G	13: 49,045,440 (GRCm39)	Y799H	probably damaging	Het
Farp1	G	A	14: 121,460,066 (GRCm39)	V112I	probably benign	Het
Fhip2a	A	G	19: 57,367,177 (GRCm39)	D240G	probably benign	Het
Fsip2	A	G	2: 82,816,776 (GRCm39)	I4170V	probably benign	Het
Gm12185	A	G	11: 48,806,531 (GRCm39)	V220A	probably benign	Het
Gpr37l1	T	C	1: 135,094,860 (GRCm39)	Y128C	probably damaging	Het
Gsto2	A	T	19: 47,860,227 (GRCm39)	R7*	probably null	Het
Itih3	C	T	14: 30,631,430 (GRCm39)	G822D	probably benign	Het
Kcnu1	A	T	8: 26,403,673 (GRCm39)	D728V	probably damaging	Het
Khdc4	G	T	3: 88,593,736 (GRCm39)	G42W	probably damaging	Het
Lnpep	G	A	17: 17,750,758 (GRCm39)	T976I	probably damaging	Het
Map1b	A	C	13: 99,562,449 (GRCm39)	H2420Q	unknown	Het
Mc1r	A	G	8: 124,134,435 (GRCm39)	K63E	probably damaging	Het
Ncor1	T	C	11: 62,264,272 (GRCm39)	T103A	probably benign	Het
Nhsl1	A	T	10: 18,407,062 (GRCm39)	T1399S	probably benign	Het
Nlrc5	C	T	8: 95,216,996 (GRCm39)	T995M	probably benign	Het
Nrbp1	G	A	5: 31,403,190 (GRCm39)		probably null	Het
Or10g9	A	C	9: 39,912,493 (GRCm39)	F10C	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or8k27	T	C	2: 86,275,580 (GRCm39)	T249A	probably benign	Het
Pcdhb13	T	C	18: 37,576,663 (GRCm39)	L347P	probably damaging	Het
Pkhd1	T	C	1: 20,128,563 (GRCm39)	T4047A	probably benign	Het
Prrt2	T	A	7: 126,618,769 (GRCm39)	D232V	probably damaging	Het
Psmd5	A	C	2: 34,746,545 (GRCm39)	M344R	probably benign	Het
Pwp1	G	A	10: 85,720,397 (GRCm39)	E345K	probably damaging	Het
Qsox1	A	G	1: 155,666,851 (GRCm39)	Y213H	probably benign	Het
Rmc1	A	G	18: 12,309,203 (GRCm39)	N92D	possibly damaging	Het
Sclt1	T	C	3: 41,685,337 (GRCm39)	R39G	unknown	Het
Syne1	A	T	10: 5,093,285 (GRCm39)		probably null	Het
Tmem163	G	T	1: 127,479,078 (GRCm39)	A147E	probably damaging	Het
Trav13n-4	A	T	14: 53,601,557 (GRCm39)	M109L	probably benign	Het
Trp53bp1	T	C	2: 121,039,790 (GRCm39)	E1283G	probably damaging	Het
Trpm6	T	A	19: 18,855,129 (GRCm39)	D1929E	probably damaging	Het
Upb1	A	T	10: 75,273,978 (GRCm39)	D335V	probably damaging	Het
Vps26b	T	C	9: 26,924,104 (GRCm39)	E213G	probably damaging	Het
Vwc2	C	T	11: 11,104,215 (GRCm39)	T249I	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zan	A	G	5: 137,391,409 (GRCm39)	C4692R	unknown	Het
Zfp106	T	C	2: 120,369,935 (GRCm39)	E29G	probably damaging	Het
Zfp551	G	A	7: 12,150,767 (GRCm39)	A214V	possibly damaging	Het
Zfp981	T	A	4: 146,622,363 (GRCm39)	H429Q	probably benign	Het

Other mutations in Mpped1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01330:Mpped1	APN	15	83,684,320 (GRCm39)	missense	probably damaging	1.00
IGL01402:Mpped1	APN	15	83,676,414 (GRCm39)	missense	possibly damaging	0.94
IGL02004:Mpped1	APN	15	83,684,357 (GRCm39)	missense	probably damaging	1.00
R0336:Mpped1	UTSW	15	83,720,483 (GRCm39)	missense	probably damaging	1.00
R1582:Mpped1	UTSW	15	83,676,191 (GRCm39)	unclassified	probably benign
R1635:Mpped1	UTSW	15	83,676,191 (GRCm39)	unclassified	probably benign
R1636:Mpped1	UTSW	15	83,676,191 (GRCm39)	unclassified	probably benign
R1637:Mpped1	UTSW	15	83,676,191 (GRCm39)	unclassified	probably benign
R1778:Mpped1	UTSW	15	83,676,191 (GRCm39)	unclassified	probably benign
R3787:Mpped1	UTSW	15	83,680,784 (GRCm39)	intron	probably benign
R4114:Mpped1	UTSW	15	83,680,910 (GRCm39)	intron	probably benign
R4116:Mpped1	UTSW	15	83,680,910 (GRCm39)	intron	probably benign
R4977:Mpped1	UTSW	15	83,680,907 (GRCm39)	intron	probably benign
R4982:Mpped1	UTSW	15	83,720,528 (GRCm39)	missense	probably damaging	1.00
R6352:Mpped1	UTSW	15	83,720,564 (GRCm39)	missense	probably damaging	1.00
R7499:Mpped1	UTSW	15	83,684,251 (GRCm39)	missense	probably damaging	1.00
R8056:Mpped1	UTSW	15	83,720,663 (GRCm39)	missense	possibly damaging	0.63
R8395:Mpped1	UTSW	15	83,684,257 (GRCm39)	missense	probably damaging	1.00
R8956:Mpped1	UTSW	15	83,740,469 (GRCm39)	missense	probably damaging	1.00
R8959:Mpped1	UTSW	15	83,676,342 (GRCm39)	missense	probably damaging	0.99
R9229:Mpped1	UTSW	15	83,738,673 (GRCm39)	missense	possibly damaging	0.79
R9747:Mpped1	UTSW	15	83,684,305 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTCCAGTGATTGTCCCCAG -3'
(R):5'- AATGCCCCTGTAGGAGACTG -3'

Sequencing Primer
(F):5'- CAGTGATTGTCCCCAGCTATC -3'
(R):5'- CTGTAGGAGACTGGAGTTGCCAC -3'

Posted On

2018-08-29