Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02866:Adamts19'

362350

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts19

Ensembl Gene

ENSMUSG00000053441

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 19

Synonyms

D230034E10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02866

Quality Score

Status

Chromosome

Chromosomal Location

58969739-59187132 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59181914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1118 (M1118L)

Ref Sequence

ENSEMBL: ENSMUSP00000050535 (fasta)

Gene Model

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

AlphaFold

P59509

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052907
AA Change: M1118L

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050535
Gene: ENSMUSG00000053441
AA Change: M1118L

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ckmt2	A	T	13: 92,006,400 (GRCm39)	L315*	probably null	Het
Dusp28	T	A	1: 92,835,378 (GRCm39)	I154N	probably benign	Het
Ect2l	A	T	10: 18,035,565 (GRCm39)	I420N	probably damaging	Het
Erap1	C	A	13: 74,816,118 (GRCm39)	N82K	probably damaging	Het
Gsdma3	A	G	11: 98,520,585 (GRCm39)	D72G	possibly damaging	Het
Hectd1	T	A	12: 51,837,396 (GRCm39)	S720C	probably damaging	Het
Jakmip2	T	G	18: 43,685,266 (GRCm39)	E674A	probably benign	Het
Kcnt2	T	C	1: 140,352,986 (GRCm39)	S232P	probably damaging	Het
Kmo	T	C	1: 175,481,154 (GRCm39)	S291P	probably damaging	Het
Kpnb1	A	G	11: 97,068,112 (GRCm39)	V286A	probably damaging	Het
Ldah	T	A	12: 8,288,602 (GRCm39)	V83D	probably benign	Het
Mrgprb5	T	A	7: 47,817,914 (GRCm39)	I274F	probably damaging	Het
Mycbp2	A	G	14: 103,367,428 (GRCm39)	I988T	probably damaging	Het
Myh3	A	G	11: 66,979,849 (GRCm39)	E596G	probably benign	Het
Ndufs1	T	C	1: 63,186,300 (GRCm39)	I52V	probably benign	Het
Nhsl1	G	T	10: 18,403,355 (GRCm39)	D1363Y	probably damaging	Het
Or14c41	T	A	7: 86,234,901 (GRCm39)	C139*	probably null	Het
Or51f1e	C	A	7: 102,747,590 (GRCm39)	T214K	probably damaging	Het
Or5b98	A	G	19: 12,931,719 (GRCm39)	I255M	possibly damaging	Het
Or6c66	A	C	10: 129,461,575 (GRCm39)	Y118*	probably null	Het
Pcdhb19	T	C	18: 37,632,163 (GRCm39)	S653P	possibly damaging	Het
Plcb3	A	G	19: 6,935,044 (GRCm39)	L869P	probably damaging	Het
Prkdc	T	A	16: 15,649,191 (GRCm39)	F3722I	probably damaging	Het
Ptprd	T	C	4: 75,968,674 (GRCm39)	K206R	probably damaging	Het
Pwwp3b	T	C	X: 138,135,753 (GRCm39)	V97A	probably benign	Het
Robo3	C	A	9: 37,333,602 (GRCm39)	R703L	possibly damaging	Het
Tob1	A	T	11: 94,104,883 (GRCm39)	M140L	possibly damaging	Het
Ubc	A	T	5: 125,464,486 (GRCm39)	D280E	probably benign	Het
Wasf3	C	A	5: 146,405,131 (GRCm39)	Q364K	probably benign	Het

Other mutations in Adamts19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Adamts19	APN	18	59,157,537 (GRCm39)	missense	probably damaging	1.00
IGL00331:Adamts19	APN	18	59,140,397 (GRCm39)	splice site	probably benign
IGL00970:Adamts19	APN	18	59,144,149 (GRCm39)	missense	possibly damaging	0.82
IGL01328:Adamts19	APN	18	59,181,954 (GRCm39)	missense	possibly damaging	0.89
IGL01385:Adamts19	APN	18	59,105,851 (GRCm39)	missense	probably damaging	0.98
IGL01529:Adamts19	APN	18	59,096,535 (GRCm39)	missense	probably damaging	0.99
IGL01535:Adamts19	APN	18	59,101,891 (GRCm39)	missense	probably benign	0.00
IGL01557:Adamts19	APN	18	59,101,792 (GRCm39)	splice site	probably null
IGL01705:Adamts19	APN	18	59,166,038 (GRCm39)	missense	possibly damaging	0.91
IGL01803:Adamts19	APN	18	59,085,541 (GRCm39)	missense	probably damaging	1.00
IGL02116:Adamts19	APN	18	58,970,571 (GRCm39)	missense	probably benign
IGL02131:Adamts19	APN	18	59,185,732 (GRCm39)	missense	probably damaging	1.00
IGL02312:Adamts19	APN	18	59,060,369 (GRCm39)	missense	probably damaging	1.00
IGL02755:Adamts19	APN	18	59,103,005 (GRCm39)	missense	probably benign	0.25
IGL02964:Adamts19	APN	18	59,122,037 (GRCm39)	missense	probably damaging	1.00
IGL02982:Adamts19	APN	18	59,157,590 (GRCm39)	missense	probably damaging	1.00
IGL03040:Adamts19	APN	18	59,036,080 (GRCm39)	missense	probably benign	0.05
R0081:Adamts19	UTSW	18	59,036,137 (GRCm39)	critical splice donor site	probably null
R0194:Adamts19	UTSW	18	59,144,220 (GRCm39)	missense	probably null	1.00
R0195:Adamts19	UTSW	18	59,102,942 (GRCm39)	splice site	probably benign
R0541:Adamts19	UTSW	18	59,060,372 (GRCm39)	critical splice donor site	probably null
R0659:Adamts19	UTSW	18	59,140,565 (GRCm39)	splice site	probably benign
R0967:Adamts19	UTSW	18	59,105,812 (GRCm39)	nonsense	probably null
R1512:Adamts19	UTSW	18	59,181,917 (GRCm39)	missense	possibly damaging	0.89
R1536:Adamts19	UTSW	18	59,185,687 (GRCm39)	missense	probably damaging	1.00
R1582:Adamts19	UTSW	18	59,103,013 (GRCm39)	missense	probably damaging	0.98
R1629:Adamts19	UTSW	18	59,087,691 (GRCm39)	missense	probably damaging	0.97
R1653:Adamts19	UTSW	18	59,023,365 (GRCm39)	missense	probably benign	0.00
R1718:Adamts19	UTSW	18	59,105,897 (GRCm39)	missense	probably damaging	1.00
R1733:Adamts19	UTSW	18	59,165,001 (GRCm39)	missense	probably damaging	1.00
R1753:Adamts19	UTSW	18	59,140,444 (GRCm39)	missense	possibly damaging	0.78
R1776:Adamts19	UTSW	18	59,087,692 (GRCm39)	missense	probably damaging	1.00
R1905:Adamts19	UTSW	18	59,166,017 (GRCm39)	missense	possibly damaging	0.92
R1958:Adamts19	UTSW	18	59,103,078 (GRCm39)	missense	probably benign	0.09
R1994:Adamts19	UTSW	18	59,105,903 (GRCm39)	critical splice donor site	probably null
R2177:Adamts19	UTSW	18	59,087,626 (GRCm39)	missense	possibly damaging	0.66
R3730:Adamts19	UTSW	18	59,033,982 (GRCm39)	missense	probably damaging	1.00
R4342:Adamts19	UTSW	18	59,075,572 (GRCm39)	missense	probably damaging	1.00
R4772:Adamts19	UTSW	18	58,970,848 (GRCm39)	missense	possibly damaging	0.85
R4822:Adamts19	UTSW	18	59,023,356 (GRCm39)	missense	probably damaging	1.00
R4891:Adamts19	UTSW	18	59,166,072 (GRCm39)	missense	probably damaging	1.00
R5112:Adamts19	UTSW	18	59,164,876 (GRCm39)	nonsense	probably null
R5116:Adamts19	UTSW	18	59,036,066 (GRCm39)	missense	possibly damaging	0.52
R5205:Adamts19	UTSW	18	59,101,880 (GRCm39)	missense	probably damaging	1.00
R5765:Adamts19	UTSW	18	59,185,654 (GRCm39)	missense	probably damaging	1.00
R5781:Adamts19	UTSW	18	58,971,040 (GRCm39)	missense	possibly damaging	0.59
R5792:Adamts19	UTSW	18	58,970,584 (GRCm39)	missense	possibly damaging	0.49
R6082:Adamts19	UTSW	18	59,101,846 (GRCm39)	missense	probably benign	0.18
R6088:Adamts19	UTSW	18	59,035,174 (GRCm39)	missense	probably damaging	1.00
R7060:Adamts19	UTSW	18	58,970,712 (GRCm39)	nonsense	probably null
R7251:Adamts19	UTSW	18	58,970,974 (GRCm39)	missense	probably damaging	1.00
R7295:Adamts19	UTSW	18	58,970,955 (GRCm39)	missense	probably damaging	1.00
R7974:Adamts19	UTSW	18	59,144,094 (GRCm39)	missense	possibly damaging	0.72
R7991:Adamts19	UTSW	18	59,185,726 (GRCm39)	missense	probably damaging	1.00
R8129:Adamts19	UTSW	18	59,140,559 (GRCm39)	critical splice donor site	probably null
R8297:Adamts19	UTSW	18	58,970,920 (GRCm39)	missense	probably damaging	1.00
R8336:Adamts19	UTSW	18	59,140,444 (GRCm39)	missense	possibly damaging	0.78
R8358:Adamts19	UTSW	18	59,181,881 (GRCm39)	missense	probably damaging	1.00
R8864:Adamts19	UTSW	18	59,023,497 (GRCm39)	nonsense	probably null
R9051:Adamts19	UTSW	18	59,034,048 (GRCm39)	missense	probably damaging	1.00
R9253:Adamts19	UTSW	18	59,103,013 (GRCm39)	missense	probably damaging	0.98
R9423:Adamts19	UTSW	18	59,023,427 (GRCm39)	missense	possibly damaging	0.89
R9610:Adamts19	UTSW	18	59,023,399 (GRCm39)	missense	probably benign	0.26
R9611:Adamts19	UTSW	18	59,023,399 (GRCm39)	missense	probably benign	0.26
R9686:Adamts19	UTSW	18	58,971,093 (GRCm39)	missense	probably benign	0.00
R9697:Adamts19	UTSW	18	59,101,834 (GRCm39)	missense	probably damaging	0.99
R9747:Adamts19	UTSW	18	59,023,487 (GRCm39)	missense	possibly damaging	0.69
Z1177:Adamts19	UTSW	18	59,023,446 (GRCm39)	missense	possibly damaging	0.47
Z1177:Adamts19	UTSW	18	58,971,147 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18