Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01328:Adamts19'

74397

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01328

Quality Score

Status

Chromosome

Chromosomal Location

58836764-59053678 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59048882 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 1131 (S1131F)

Ref Sequence

ENSEMBL: ENSMUSP00000050535 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052907
AA Change: S1131F

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000050535
Gene: ENSMUSG00000053441
AA Change: S1131F

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg14	G	A	3: 121,361,583	V151I	probably benign	Het
Ano5	G	A	7: 51,556,271		probably null	Het
Arhgef28	A	T	13: 97,970,323	C698S	probably damaging	Het
Cacnb4	T	C	2: 52,464,625	H247R	probably damaging	Het
Clec12b	A	T	6: 129,379,554	W216R	probably damaging	Het
Clnk	C	T	5: 38,784,528	S35N	possibly damaging	Het
Cnot4	T	A	6: 35,078,114	N80I	probably damaging	Het
Cntn5	C	T	9: 9,781,768	M635I	probably damaging	Het
Dlg5	A	G	14: 24,202,351	V107A	probably damaging	Het
Dsc2	A	T	18: 20,048,286	F155I	probably damaging	Het
Dtwd1	A	G	2: 126,164,819	I254V	probably damaging	Het
Dzip3	A	T	16: 48,972,258	D221E	probably damaging	Het
F13b	T	A	1: 139,508,082		probably benign	Het
Fam131b	G	A	6: 42,318,272	L324F	probably damaging	Het
Fam83a	A	T	15: 57,986,505	R148S	probably damaging	Het
Farsb	T	C	1: 78,471,092	I236V	probably benign	Het
Fat4	T	A	3: 38,980,658	F2820I	probably damaging	Het
Fat4	T	A	3: 38,889,991	V1011E	probably damaging	Het
Fgf7	A	G	2: 126,088,244	E99G	probably damaging	Het
Fign	T	C	2: 63,978,872	T685A	probably damaging	Het
Fubp1	G	A	3: 152,220,218	G289E	probably damaging	Het
Gata6	G	T	18: 11,064,530	M477I	probably damaging	Het
Gm14496	A	G	2: 181,995,880	Y249C	probably damaging	Het
Hectd1	T	C	12: 51,761,121	D1768G	probably damaging	Het
Htatip2	T	A	7: 49,770,949		probably null	Het
Irs2	C	A	8: 11,004,792	Q1213H	probably damaging	Het
Jak3	C	T	8: 71,679,620	R210C	probably damaging	Het
Klk1b27	T	C	7: 44,055,879	S157P	probably damaging	Het
Klri1	T	C	6: 129,698,837	S157G	probably damaging	Het
Mtmr2	G	T	9: 13,801,927	G395*	probably null	Het
Mx1	T	A	16: 97,455,632	I116F	probably damaging	Het
Oip5	A	C	2: 119,611,833	M200R	possibly damaging	Het
Olfr1118	T	A	2: 87,309,581	L284Q	possibly damaging	Het
Olfr1285	A	G	2: 111,409,219	Y268C	probably damaging	Het
Olfr1512	T	C	14: 52,372,510	D181G	probably damaging	Het
Olfr32	T	C	2: 90,139,074	K22E	probably benign	Het
Pamr1	T	A	2: 102,642,137	S594T	probably benign	Het
Phf13	C	T	4: 151,995,828	E13K	probably benign	Het
Plekha6	A	T	1: 133,272,336		probably null	Het
Rad17	A	C	13: 100,617,803	N636K	probably benign	Het
Rad21	T	A	15: 51,973,124	D217V	probably damaging	Het
Slc7a10	A	G	7: 35,186,492	D4G	possibly damaging	Het
Stc1	A	G	14: 69,038,277	D173G	probably benign	Het
Supt16	C	T	14: 52,177,032	E438K	probably benign	Het
Tex15	C	T	8: 33,571,396	Q559*	probably null	Het
Trim44	T	A	2: 102,400,020	E222V	probably benign	Het
Ubr5	T	C	15: 37,981,523	E2343G	possibly damaging	Het
Vmn2r86	T	C	10: 130,452,496	T379A	possibly damaging	Het
Vmn2r93	A	G	17: 18,325,557	T564A	probably benign	Het
Vsir	C	A	10: 60,367,760		probably benign	Het
Vwc2l	T	A	1: 70,729,004		probably null	Het
Xrn2	T	C	2: 147,029,930	V396A	possibly damaging	Het
Zbbx	T	A	3: 75,093,075	K208*	probably null	Het
Zfhx4	C	A	3: 5,244,284	L857M	probably damaging	Het
Zfp180	A	G	7: 24,101,479	D53G	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
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
IGL02964:Adamts19	APN	18	58988965	missense	probably damaging	1.00
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

Posted On

2013-10-07