Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02304:Adamts8'

287504

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts8

Ensembl Gene

ENSMUSG00000031994

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 8

Synonyms

METH-2, METH2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL02304

Quality Score

Status

Chromosome

Chromosomal Location

30942562-30963838 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30956656 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 592 (N592S)

Ref Sequence

ENSEMBL: ENSMUSP00000069644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068135] [ENSMUST00000163037]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068135
AA Change: N592S

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000069644
Gene: ENSMUSG00000031994
AA Change: N592S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Pep_M12B_propep	35	152	6.4e-23	PFAM
Pfam:Reprolysin_5	232	418	1.3e-15	PFAM
Pfam:Reprolysin_4	233	435	3.4e-8	PFAM
Pfam:Reprolysin	234	444	3.8e-21	PFAM
Pfam:Reprolysin_2	252	434	1.3e-10	PFAM
Pfam:Reprolysin_3	255	389	7.4e-14	PFAM
TSP1	545	597	7.04e-14	SMART
Pfam:ADAM_spacer1	706	825	3.2e-35	PFAM
TSP1	851	904	5.35e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163037

SMART Domains

Protein: ENSMUSP00000124848
Gene: ENSMUSG00000031994

Domain	Start	End	E-Value	Type
PDB:2V4B\|B	22	128	2e-38	PDB
SCOP:d1kufa_	27	128	2e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214688

Meta Mutation Damage Score

0.1795

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. This gene is expressed in mouse lung, heart and macrophage-rich areas of atherosclerotic plaques. The encoded preproprotein undergoes proteolytic processing to generate an active, zinc-dependent aggrecanase enzyme. This gene is located adjacent to a related ADAMTS gene on chromosome 9. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	G	T	18: 68,950,051	H31N	unknown	Het
Atp1a2	C	A	1: 172,289,353	E232D	probably benign	Het
Cacnb3	A	T	15: 98,642,382	D323V	probably damaging	Het
Cdh9	A	T	15: 16,848,601	T456S	probably benign	Het
Cep162	A	T	9: 87,227,147		probably benign	Het
Clvs2	T	C	10: 33,528,447	M258V	probably benign	Het
Col6a5	T	C	9: 105,928,414	T1098A	unknown	Het
Foxs1	T	C	2: 152,932,350	D261G	probably benign	Het
Gas2l2	T	C	11: 83,424,238		probably benign	Het
Gins4	A	T	8: 23,232,609	M98K	probably benign	Het
Gm12355	C	T	11: 98,625,538	R3H	probably benign	Het
Gm9637	A	T	14: 19,402,545		noncoding transcript	Het
Herc1	A	G	9: 66,476,414	D3720G	probably benign	Het
Kcnh5	C	T	12: 74,976,697	M532I	probably benign	Het
Kcnk18	T	C	19: 59,234,863	Y147H	probably damaging	Het
Kif21a	A	T	15: 90,965,535	F55Y	probably damaging	Het
Krt15	T	A	11: 100,133,677	I278F	possibly damaging	Het
L3mbtl4	T	A	17: 68,587,185	Y395*	probably null	Het
Mcm3ap	T	A	10: 76,484,738	N843K	possibly damaging	Het
Mpdz	T	C	4: 81,310,157	K1337E	possibly damaging	Het
Mpdz	G	A	4: 81,297,559		probably benign	Het
Ms4a6d	T	C	19: 11,603,141		probably benign	Het
Myo7a	G	T	7: 98,077,736	R922S	possibly damaging	Het
Nek1	G	T	8: 61,012,167	G97C	probably damaging	Het
Obscn	A	G	11: 59,076,622	Y2963H	probably damaging	Het
Olfr1138	C	T	2: 87,737,986	V113M	probably benign	Het
Olfr1294	T	C	2: 111,537,401	N296S	probably benign	Het
Olfr731	T	C	14: 50,238,760	N42D	probably damaging	Het
Prmt3	G	A	7: 49,826,737	V365I	probably benign	Het
Prrc2c	T	C	1: 162,684,136	T958A	probably benign	Het
Ptprb	T	C	10: 116,331,259	Y947H	probably damaging	Het
Pus10	C	T	11: 23,712,275	S315L	probably damaging	Het
Rmi1	C	A	13: 58,409,476	S513*	probably null	Het
Sec14l3	C	T	11: 4,074,768	P239L	probably damaging	Het
Slc44a3	T	C	3: 121,527,074	T93A	possibly damaging	Het
Stat1	G	A	1: 52,132,544	A125T	probably benign	Het
Tigd2	C	T	6: 59,211,698	Q517*	probably null	Het
Trav13d-3	C	T	14: 53,033,380	Q100*	probably null	Het
Trim67	G	A	8: 124,825,952	D598N	probably damaging	Het
Trio	A	G	15: 27,735,436	L2856P	probably damaging	Het

Other mutations in Adamts8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Adamts8	APN	9	30953500	missense	probably damaging	1.00
IGL02049:Adamts8	APN	9	30951354	missense	probably damaging	0.96
IGL02385:Adamts8	APN	9	30961730	missense	probably benign	0.10
IGL02536:Adamts8	APN	9	30962072	missense	probably benign	0.05
IGL03347:Adamts8	APN	9	30959238	missense	possibly damaging	0.75
R0633:Adamts8	UTSW	9	30943511	missense	probably damaging	1.00
R1066:Adamts8	UTSW	9	30956541	missense	probably damaging	1.00
R1464:Adamts8	UTSW	9	30951377	missense	probably benign
R1464:Adamts8	UTSW	9	30951377	missense	probably benign
R1560:Adamts8	UTSW	9	30956667	missense	probably damaging	1.00
R1592:Adamts8	UTSW	9	30943176	missense	probably damaging	0.99
R1753:Adamts8	UTSW	9	30954614	missense	probably benign	0.04
R1932:Adamts8	UTSW	9	30956512	missense	probably benign
R2087:Adamts8	UTSW	9	30962112	missense	probably damaging	1.00
R2118:Adamts8	UTSW	9	30943063	missense	probably damaging	1.00
R3789:Adamts8	UTSW	9	30959292	missense	probably damaging	1.00
R4165:Adamts8	UTSW	9	30951388	missense	probably benign	0.01
R4166:Adamts8	UTSW	9	30951388	missense	probably benign	0.01
R4193:Adamts8	UTSW	9	30959308	missense	probably damaging	1.00
R4425:Adamts8	UTSW	9	30956656	missense	possibly damaging	0.55
R5155:Adamts8	UTSW	9	30954548	missense	probably benign	0.33
R5433:Adamts8	UTSW	9	30961716	missense	probably benign	0.01
R5544:Adamts8	UTSW	9	30952703	missense	probably damaging	1.00
R5590:Adamts8	UTSW	9	30951336	missense	probably damaging	0.97
R5640:Adamts8	UTSW	9	30956500	missense	probably benign	0.00
R5800:Adamts8	UTSW	9	30954482	missense	probably damaging	1.00
R5909:Adamts8	UTSW	9	30961928	missense	probably benign	0.00
R6821:Adamts8	UTSW	9	30956626	missense	probably benign	0.08
R6967:Adamts8	UTSW	9	30954491	missense	probably benign	0.04
R7336:Adamts8	UTSW	9	30962067	missense	probably benign	0.00
R7538:Adamts8	UTSW	9	30953470	missense	probably damaging	1.00
R7540:Adamts8	UTSW	9	30959064	missense	probably damaging	0.96

Posted On

2015-04-16