Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00331:Adamts19'

13281

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 #

IGL00331

Quality Score

Status

Chromosome

Chromosomal Location

58969739-59187132 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 59140397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000050535 (fasta)

Gene Model

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

AlphaFold

P59509

Predicted Effect

probably benign
Transcript: ENSMUST00000052907

SMART Domains

Protein: ENSMUSP00000050535
Gene: ENSMUSG00000053441

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	C	A	1: 74,320,595 (GRCm39)		probably benign	Het
Afg3l1	T	A	8: 124,214,128 (GRCm39)	F190I	probably benign	Het
Alms1	T	A	6: 85,618,353 (GRCm39)	S2800T	possibly damaging	Het
Alox5	A	T	6: 116,392,478 (GRCm39)	W348R	probably damaging	Het
Atp13a5	G	A	16: 29,085,766 (GRCm39)	Q823*	probably null	Het
Atp6v1b2	T	C	8: 69,541,586 (GRCm39)		probably null	Het
Chuk	T	C	19: 44,076,462 (GRCm39)	I416M	possibly damaging	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Dmbt1	A	T	7: 130,701,020 (GRCm39)	Q1066L	possibly damaging	Het
Dnah5	A	G	15: 28,421,766 (GRCm39)	T3873A	probably damaging	Het
Endog	C	T	2: 30,062,912 (GRCm39)	T184M	probably damaging	Het
Fcgbp	T	C	7: 27,800,966 (GRCm39)		probably benign	Het
Flii	A	G	11: 60,606,659 (GRCm39)	I1061T	probably benign	Het
Hdac2	T	A	10: 36,873,067 (GRCm39)	N308K	probably damaging	Het
Hoxa2	T	G	6: 52,140,497 (GRCm39)	Y163S	probably damaging	Het
Hsd3b7	T	C	7: 127,402,144 (GRCm39)	L263P	probably damaging	Het
Klf17	T	C	4: 117,618,235 (GRCm39)	T41A	probably benign	Het
Lrrfip1	T	C	1: 90,996,343 (GRCm39)	M42T	probably damaging	Het
Mapk8ip1	C	T	2: 92,215,533 (GRCm39)	V614I	probably benign	Het
Mocs1	T	G	17: 49,742,292 (GRCm39)		probably null	Het
Moxd1	T	C	10: 24,158,453 (GRCm39)		probably benign	Het
Mterf1a	T	C	5: 3,941,610 (GRCm39)	E86G	probably damaging	Het
Muc4	A	G	16: 32,574,613 (GRCm39)	D1021G	probably benign	Het
Nomo1	T	C	7: 45,694,760 (GRCm39)	S212P	possibly damaging	Het
Or5b116	A	G	19: 13,422,988 (GRCm39)	D204G	probably benign	Het
Or8c15	T	A	9: 38,120,534 (GRCm39)	Y60N	probably damaging	Het
Phf21a	A	C	2: 92,178,374 (GRCm39)	T385P	probably damaging	Het
Piwil4	A	T	9: 14,626,327 (GRCm39)		probably benign	Het
Pknox1	T	C	17: 31,818,619 (GRCm39)		probably null	Het
Prr14l	T	C	5: 32,988,410 (GRCm39)	I362V	probably benign	Het
Sergef	C	T	7: 46,284,844 (GRCm39)		probably null	Het
Sez6l	T	C	5: 112,572,511 (GRCm39)	D948G	probably damaging	Het
Skor1	A	T	9: 63,053,723 (GRCm39)	L54Q	probably damaging	Het
Sntn	C	T	14: 13,679,086 (GRCm38)	Q87*	probably null	Het
Syde2	A	G	3: 145,720,096 (GRCm39)	K772E	possibly damaging	Het
Taf2	T	A	15: 54,934,845 (GRCm39)		probably null	Het
Tbc1d13	T	A	2: 30,030,523 (GRCm39)	Y113N	probably damaging	Het
Tmem154	T	C	3: 84,591,722 (GRCm39)	F91L	probably benign	Het
Tmem63a	A	G	1: 180,794,062 (GRCm39)	D533G	possibly damaging	Het
Tmprss15	A	T	16: 78,782,882 (GRCm39)	N712K	possibly damaging	Het
Trip12	A	T	1: 84,708,262 (GRCm39)	D603E	probably damaging	Het
Trmt11	T	C	10: 30,442,445 (GRCm39)	D246G	probably damaging	Het
Vmn1r174	T	A	7: 23,453,958 (GRCm39)	M208K	possibly damaging	Het
Wdr54	T	C	6: 83,132,755 (GRCm39)	H33R	probably benign	Het
Zfp207	A	G	11: 80,279,828 (GRCm39)	D111G	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
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
IGL02866:Adamts19	APN	18	59,181,914 (GRCm39)	missense	possibly damaging	0.80
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

2012-12-06