Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02451:Enpp4'

293648

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Enpp4

Ensembl Gene

ENSMUSG00000023961

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 4

Synonyms

4933413N07Rik, LOC224794

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

IGL02451

Quality Score

Status

Chromosome

Chromosomal Location

44096308-44105809 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44101424 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 298 (L298H)

Ref Sequence

ENSEMBL: ENSMUSP00000114429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024757] [ENSMUST00000143137]

Predicted Effect

probably damaging
Transcript: ENSMUST00000024757
AA Change: L298H

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

SMART Domains

Protein: ENSMUSP00000024757
Gene: ENSMUSG00000023961
AA Change: L298H

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Phosphodiest	31	342	9e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000143137
AA Change: L298H

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

SMART Domains

Protein: ENSMUSP00000114429
Gene: ENSMUSG00000023961
AA Change: L298H

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Phosphodiest	31	342	5.7e-80	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	G	5: 138,563,547	T126P	probably damaging	Het
Asic2	T	C	11: 80,891,737		probably benign	Het
B430305J03Rik	A	G	3: 61,364,141		probably benign	Het
Bbs7	A	G	3: 36,610,592	F47L	possibly damaging	Het
BC017158	A	G	7: 128,276,410	L257P	probably damaging	Het
Bcl2l14	G	T	6: 134,423,841	G75V	probably benign	Het
Btnl4	T	C	17: 34,475,927	H4R	probably benign	Het
Champ1	C	A	8: 13,878,739	P299Q	probably damaging	Het
Cldnd2	A	G	7: 43,441,658	K5E	probably benign	Het
Ctr9	T	A	7: 111,043,424	L401*	probably null	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Git1	T	C	11: 77,500,687	C222R	possibly damaging	Het
Gpam	T	C	19: 55,088,203	T189A	probably damaging	Het
Hgfac	T	G	5: 35,043,814		probably null	Het
Hivep3	T	A	4: 120,133,965	S2221T	probably damaging	Het
Ifi47	T	C	11: 49,095,777	Y124H	probably damaging	Het
Il1a	T	C	2: 129,306,655	E45G	probably damaging	Het
Itga11	T	A	9: 62,735,353	I186N	probably damaging	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Mapk13	A	G	17: 28,776,413	T203A	probably damaging	Het
Mrpl37	T	A	4: 107,066,642	I52F	probably damaging	Het
Nr1i2	A	G	16: 38,249,292	F417L	probably benign	Het
Olfr1129	T	A	2: 87,575,232	S49R	probably benign	Het
Olfr811	G	A	10: 129,801,833	Q231*	probably null	Het
Osbpl1a	T	C	18: 12,914,493		probably benign	Het
Parg	C	T	14: 32,242,229	T112M	probably damaging	Het
Pifo	T	A	3: 106,014,504	E34D	probably benign	Het
Pou6f1	T	C	15: 100,579,940	T166A	possibly damaging	Het
Prtg	A	G	9: 72,856,999	I585V	possibly damaging	Het
Ptpru	T	G	4: 131,776,775		probably benign	Het
Rab6a	T	C	7: 100,636,763		probably null	Het
Rnf207	C	T	4: 152,312,412	R425H	probably benign	Het
Skiv2l2	C	T	13: 112,891,347	V660M	probably damaging	Het
Slc27a2	A	G	2: 126,578,992	M468V	probably benign	Het
Slc30a1	A	G	1: 191,907,329	H108R	possibly damaging	Het
Sned1	A	G	1: 93,236,208		probably benign	Het
Sptbn4	A	T	7: 27,365,589	F2095Y	probably null	Het
Sspo	A	T	6: 48,460,303		probably benign	Het
Tbx19	A	G	1: 165,140,171	S336P	probably benign	Het
Tmem101	T	A	11: 102,153,293	D256V	probably damaging	Het
Trbv20	T	G	6: 41,188,276	L2V	unknown	Het
Trpc7	A	G	13: 56,822,461	S382P	probably damaging	Het
Uhmk1	T	C	1: 170,212,526	T91A	possibly damaging	Het
Vmn2r10	T	A	5: 108,995,922	R721*	probably null	Het
Vmn2r94	T	A	17: 18,258,191	Y98F	possibly damaging	Het
Zcchc11	C	A	4: 108,529,276	Y1114*	probably null	Het
Zfp532	A	G	18: 65,623,601	R202G	probably damaging	Het
Zfp827	T	C	8: 79,060,972	S256P	probably damaging	Het
Zzef1	T	C	11: 72,901,388	I2266T	probably damaging	Het

Other mutations in Enpp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01536:Enpp4	APN	17	44099603	missense	possibly damaging	0.56
IGL02150:Enpp4	APN	17	44102158	missense	probably benign	0.22
IGL02879:Enpp4	APN	17	44101950	missense	probably benign	0.00
R0005:Enpp4	UTSW	17	44102175	missense	probably benign	0.04
R0540:Enpp4	UTSW	17	44099495	missense	probably damaging	1.00
R0607:Enpp4	UTSW	17	44099495	missense	probably damaging	1.00
R0942:Enpp4	UTSW	17	44101881	nonsense	probably null
R1334:Enpp4	UTSW	17	44102368	missense	probably benign	0.02
R1632:Enpp4	UTSW	17	44099653	missense	probably damaging	0.99
R2567:Enpp4	UTSW	17	44101845	missense	probably damaging	0.97
R4272:Enpp4	UTSW	17	44101807	missense	probably benign	0.01
R4273:Enpp4	UTSW	17	44101807	missense	probably benign	0.01
R4750:Enpp4	UTSW	17	44102355	missense	probably damaging	1.00
R6267:Enpp4	UTSW	17	44102480	missense	probably benign	0.00
R6296:Enpp4	UTSW	17	44102480	missense	probably benign	0.00
R7180:Enpp4	UTSW	17	44102037	missense	probably benign	0.03
R8036:Enpp4	UTSW	17	44102245	missense	possibly damaging	0.81
R8135:Enpp4	UTSW	17	44101335	missense	probably benign	0.00

Posted On

2015-04-16