Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02964:Adamts19'

365496

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts19

Ensembl Gene

ENSMUSG00000053441

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 19

Synonyms

D230034E10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02964

Quality Score

Status

Chromosome

Chromosomal Location

58836764-59053678 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58988965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 813 (I813K)

Ref Sequence

ENSEMBL: ENSMUSP00000050535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052907]

AlphaFold

P59509

Predicted Effect

probably damaging
Transcript: ENSMUST00000052907
AA Change: I813K

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

SMART Domains

Protein: ENSMUSP00000050535
Gene: ENSMUSG00000053441
AA Change: I813K

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	57	84	N/A	INTRINSIC
low complexity region	109	124	N/A	INTRINSIC
Pfam:Pep_M12B_propep	131	276	1.6e-21	PFAM
Pfam:Reprolysin_5	326	523	1.7e-13	PFAM
Pfam:Reprolysin_4	328	544	2e-10	PFAM
Pfam:Reprolysin	328	548	9e-22	PFAM
Pfam:Reprolysin_2	346	537	1.6e-9	PFAM
Pfam:Reprolysin_3	350	496	3.4e-12	PFAM
low complexity region	551	562	N/A	INTRINSIC
TSP1	639	689	5.68e-9	SMART
Pfam:ADAM_spacer1	793	903	1.1e-31	PFAM
TSP1	922	980	4.95e-2	SMART
TSP1	982	1040	4.95e-2	SMART
TSP1	1042	1086	1.62e-4	SMART
TSP1	1093	1147	1.03e-6	SMART
Pfam:PLAC	1167	1199	4.2e-9	PFAM

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 predominantly expressed in the ovary with lower levels of expression observed in kidney, heart, skeletal muscle, lung and testis. The encoded preproprotein undergoes proteolytic processing to generate an active protease. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,351,810	I1364V	possibly damaging	Het
Adamtsl1	G	T	4: 86,424,357	C1703F	probably damaging	Het
Atp2b4	T	A	1: 133,730,565	T536S	probably damaging	Het
Capg	T	A	6: 72,562,844	I340N	probably damaging	Het
Casc3	T	A	11: 98,828,923	M567K	probably damaging	Het
Chmp1a	T	C	8: 123,208,067	E50G	probably damaging	Het
Cryba1	T	C	11: 77,719,381		probably benign	Het
Dnah8	T	A	17: 30,746,761	Y2356N	probably damaging	Het
Ercc6	T	G	14: 32,570,103	S1141R	probably benign	Het
Exd2	T	A	12: 80,480,528	V165D	probably damaging	Het
Fbln1	A	T	15: 85,231,462	E233V	probably damaging	Het
Ftsj3	T	C	11: 106,252,337	K384E	probably damaging	Het
Ggt5	A	G	10: 75,604,128	I188V	probably benign	Het
Gm42742	A	T	7: 127,016,846	S26T	probably damaging	Het
Gucy1a2	T	A	9: 3,759,542	D449E	probably damaging	Het
Igfbp7	C	T	5: 77,351,341	S239N	possibly damaging	Het
Klf11	C	T	12: 24,655,627	A360V	probably damaging	Het
Kmt2e	T	A	5: 23,467,100		probably benign	Het
Magea8	A	T	X: 154,986,682	C144S	probably damaging	Het
Med4	A	G	14: 73,517,921	Q223R	probably damaging	Het
Mmd2	G	T	5: 142,569,477	F153L	probably damaging	Het
Nav3	C	A	10: 109,736,953	R1615L	probably damaging	Het
Nisch	A	G	14: 31,180,812		probably benign	Het
Nr1i3	A	T	1: 171,214,395	Y16F	probably benign	Het
Olfr1134	C	A	2: 87,656,714	C69F	probably damaging	Het
Olfr828	A	G	9: 18,815,728	C189R	probably damaging	Het
Olfr860	G	A	9: 19,846,254	R122*	probably null	Het
Olfr954	A	G	9: 39,461,781	T117A	possibly damaging	Het
Ppil6	C	A	10: 41,507,483	H252N	probably benign	Het
Ppp6r2	C	T	15: 89,259,175	P175L	probably damaging	Het
Psme4	T	A	11: 30,791,095	Y90*	probably null	Het
Rbm20	C	A	19: 53,813,702	L214I	probably benign	Het
Rhox2f	T	C	X: 37,571,681	V24A	probably benign	Het
Scnm1	T	C	3: 95,133,037	K96E	probably benign	Het
Sec16a	A	C	2: 26,419,723	D2090E	probably benign	Het
Smg6	T	C	11: 74,930,750		probably null	Het
Snx2	T	C	18: 53,194,558	S119P	probably benign	Het
Stam	A	G	2: 14,115,968		probably benign	Het
Sult2b1	T	A	7: 45,735,274	E126V	probably benign	Het
Tor1aip1	T	C	1: 156,035,844	E131G	probably damaging	Het
Ttn	C	T	2: 76,788,696	C14367Y	probably damaging	Het
Ubr4	T	C	4: 139,407,820	F821S	possibly damaging	Het
Vmn1r32	T	C	6: 66,552,938	N285D	probably benign	Het
Vmn2r23	T	C	6: 123,741,782	L698P	possibly damaging	Het
Wnt8a	T	A	18: 34,542,421	L18Q	possibly damaging	Het
Zfp747	T	C	7: 127,374,494	E168G	probably benign	Het

Other mutations in Adamts19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Adamts19	APN	18	59024465	missense	probably damaging	1.00
IGL00331:Adamts19	APN	18	59007325	splice site	probably benign
IGL00970:Adamts19	APN	18	59011077	missense	possibly damaging	0.82
IGL01328:Adamts19	APN	18	59048882	missense	possibly damaging	0.89
IGL01385:Adamts19	APN	18	58972779	missense	probably damaging	0.98
IGL01529:Adamts19	APN	18	58963463	missense	probably damaging	0.99
IGL01535:Adamts19	APN	18	58968819	missense	probably benign	0.00
IGL01557:Adamts19	APN	18	58968720	splice site	probably null
IGL01705:Adamts19	APN	18	59032966	missense	possibly damaging	0.91
IGL01803:Adamts19	APN	18	58952469	missense	probably damaging	1.00
IGL02116:Adamts19	APN	18	58837499	missense	probably benign
IGL02131:Adamts19	APN	18	59052660	missense	probably damaging	1.00
IGL02312:Adamts19	APN	18	58927297	missense	probably damaging	1.00
IGL02755:Adamts19	APN	18	58969933	missense	probably benign	0.25
IGL02866:Adamts19	APN	18	59048842	missense	possibly damaging	0.80
IGL02982:Adamts19	APN	18	59024518	missense	probably damaging	1.00
IGL03040:Adamts19	APN	18	58903008	missense	probably benign	0.05
R0081:Adamts19	UTSW	18	58903065	critical splice donor site	probably null
R0194:Adamts19	UTSW	18	59011148	missense	probably null	1.00
R0195:Adamts19	UTSW	18	58969870	splice site	probably benign
R0541:Adamts19	UTSW	18	58927300	critical splice donor site	probably null
R0659:Adamts19	UTSW	18	59007493	splice site	probably benign
R0967:Adamts19	UTSW	18	58972740	nonsense	probably null
R1512:Adamts19	UTSW	18	59048845	missense	possibly damaging	0.89
R1536:Adamts19	UTSW	18	59052615	missense	probably damaging	1.00
R1582:Adamts19	UTSW	18	58969941	missense	probably damaging	0.98
R1629:Adamts19	UTSW	18	58954619	missense	probably damaging	0.97
R1653:Adamts19	UTSW	18	58890293	missense	probably benign	0.00
R1718:Adamts19	UTSW	18	58972825	missense	probably damaging	1.00
R1733:Adamts19	UTSW	18	59031929	missense	probably damaging	1.00
R1753:Adamts19	UTSW	18	59007372	missense	possibly damaging	0.78
R1776:Adamts19	UTSW	18	58954620	missense	probably damaging	1.00
R1905:Adamts19	UTSW	18	59032945	missense	possibly damaging	0.92
R1958:Adamts19	UTSW	18	58970006	missense	probably benign	0.09
R1994:Adamts19	UTSW	18	58972831	critical splice donor site	probably null
R2177:Adamts19	UTSW	18	58954554	missense	possibly damaging	0.66
R3730:Adamts19	UTSW	18	58900910	missense	probably damaging	1.00
R4342:Adamts19	UTSW	18	58942500	missense	probably damaging	1.00
R4772:Adamts19	UTSW	18	58837776	missense	possibly damaging	0.85
R4822:Adamts19	UTSW	18	58890284	missense	probably damaging	1.00
R4891:Adamts19	UTSW	18	59033000	missense	probably damaging	1.00
R5112:Adamts19	UTSW	18	59031804	nonsense	probably null
R5116:Adamts19	UTSW	18	58902994	missense	possibly damaging	0.52
R5205:Adamts19	UTSW	18	58968808	missense	probably damaging	1.00
R5765:Adamts19	UTSW	18	59052582	missense	probably damaging	1.00
R5781:Adamts19	UTSW	18	58837968	missense	possibly damaging	0.59
R5792:Adamts19	UTSW	18	58837512	missense	possibly damaging	0.49
R6082:Adamts19	UTSW	18	58968774	missense	probably benign	0.18
R6088:Adamts19	UTSW	18	58902102	missense	probably damaging	1.00
R7060:Adamts19	UTSW	18	58837640	nonsense	probably null
R7251:Adamts19	UTSW	18	58837902	missense	probably damaging	1.00
R7295:Adamts19	UTSW	18	58837883	missense	probably damaging	1.00
R7974:Adamts19	UTSW	18	59011022	missense	possibly damaging	0.72
R7991:Adamts19	UTSW	18	59052654	missense	probably damaging	1.00
R8129:Adamts19	UTSW	18	59007487	critical splice donor site	probably null
R8297:Adamts19	UTSW	18	58837848	missense	probably damaging	1.00
R8336:Adamts19	UTSW	18	59007372	missense	possibly damaging	0.78
R8358:Adamts19	UTSW	18	59048809	missense	probably damaging	1.00
R8864:Adamts19	UTSW	18	58890425	nonsense	probably null
R9051:Adamts19	UTSW	18	58900976	missense	probably damaging	1.00
R9253:Adamts19	UTSW	18	58969941	missense	probably damaging	0.98
R9423:Adamts19	UTSW	18	58890355	missense	possibly damaging	0.89
R9610:Adamts19	UTSW	18	58890327	missense	probably benign	0.26
R9611:Adamts19	UTSW	18	58890327	missense	probably benign	0.26
R9686:Adamts19	UTSW	18	58838021	missense	probably benign	0.00
R9697:Adamts19	UTSW	18	58968762	missense	probably damaging	0.99
R9747:Adamts19	UTSW	18	58890415	missense	possibly damaging	0.69
Z1177:Adamts19	UTSW	18	58838075	missense	probably damaging	1.00
Z1177:Adamts19	UTSW	18	58890374	missense	possibly damaging	0.47

Posted On

2015-12-18