Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02982:Adamts19'

406590

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 #

IGL02982

Quality Score

Status

Chromosome

Chromosomal Location

58969739-59187132 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59157590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 961 (C961S)

Ref Sequence

ENSEMBL: ENSMUSP00000050535 (fasta)

Gene Model

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

AlphaFold

P59509

Predicted Effect

probably damaging
Transcript: ENSMUST00000052907
AA Change: C961S

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

SMART Domains

Protein: ENSMUSP00000050535
Gene: ENSMUSG00000053441
AA Change: C961S

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	T	8: 25,294,447 (GRCm39)	A384D	probably benign	Het
Agbl2	G	A	2: 90,636,159 (GRCm39)	C565Y	probably damaging	Het
Aox3	G	A	1: 58,166,846 (GRCm39)	E190K	probably benign	Het
Arf2	T	G	11: 103,872,602 (GRCm39)	D74E	probably damaging	Het
Bptf	T	G	11: 106,967,500 (GRCm39)	D960A	probably damaging	Het
Ccdc180	G	T	4: 45,903,840 (GRCm39)		probably benign	Het
Ces1a	A	G	8: 93,771,603 (GRCm39)	F65L	probably damaging	Het
Def8	T	C	8: 124,183,278 (GRCm39)		probably benign	Het
Fat4	T	C	3: 38,944,992 (GRCm39)	L1295P	probably damaging	Het
Filip1l	A	G	16: 57,392,595 (GRCm39)	H1061R	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gldc	A	G	19: 30,122,545 (GRCm39)		probably null	Het
Golgb1	A	C	16: 36,746,172 (GRCm39)	D2917A	probably damaging	Het
Gpc5	G	A	14: 115,607,400 (GRCm39)	C334Y	probably damaging	Het
Gpsm1	T	A	2: 26,214,871 (GRCm39)	L252Q	probably damaging	Het
Iars1	C	T	13: 49,863,185 (GRCm39)	R546C	probably benign	Het
Kbtbd8	G	T	6: 95,103,547 (GRCm39)	V399L	probably benign	Het
Kcnd2	A	T	6: 21,217,148 (GRCm39)	D284V	probably damaging	Het
Kcnj6	T	C	16: 94,633,376 (GRCm39)	K227R	possibly damaging	Het
Lhx9	A	T	1: 138,766,349 (GRCm39)	H155Q	probably damaging	Het
Mcm9	A	G	10: 53,501,922 (GRCm39)	V221A	probably damaging	Het
Myo9a	A	T	9: 59,815,491 (GRCm39)	K2237*	probably null	Het
Ntf3	A	T	6: 126,079,340 (GRCm39)	D55E	probably damaging	Het
Or13a28	A	T	7: 140,217,865 (GRCm39)	I84F	probably benign	Het
Or4c15b	G	T	2: 89,113,453 (GRCm39)	T29K	probably damaging	Het
Plek	T	A	11: 16,931,826 (GRCm39)	I342F	probably damaging	Het
Polrmt	A	G	10: 79,574,182 (GRCm39)	Y853H	probably damaging	Het
Psg29	A	G	7: 16,945,632 (GRCm39)	T401A	probably damaging	Het
Ptprb	A	G	10: 116,158,533 (GRCm39)	T822A	probably benign	Het
Ptprq	A	C	10: 107,422,545 (GRCm39)	F1616V	probably damaging	Het
Rpe65	T	A	3: 159,305,998 (GRCm39)	V19E	probably damaging	Het
Scamp2	G	A	9: 57,488,832 (GRCm39)	A178T	probably benign	Het
Spata31e5	T	C	1: 28,817,135 (GRCm39)	H299R	probably damaging	Het
Spta1	A	G	1: 174,014,854 (GRCm39)	I445V	probably benign	Het
Tas2r135	A	G	6: 42,383,187 (GRCm39)	E242G	probably benign	Het
Ttc22	T	C	4: 106,495,783 (GRCm39)	V379A	probably damaging	Het
Unc5d	C	T	8: 29,142,881 (GRCm39)	G857E	probably damaging	Het
Usp28	A	G	9: 48,929,739 (GRCm39)	I43V	probably benign	Het
Vmn2r68	A	T	7: 84,883,649 (GRCm39)	M152K	probably benign	Het
Wrn	C	T	8: 33,833,094 (GRCm39)	G133R	probably damaging	Het
Zfyve26	G	A	12: 79,310,644 (GRCm39)	T187M	probably damaging	Het
Zic2	A	G	14: 122,715,979 (GRCm39)	E367G	probably damaging	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
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
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

2016-08-02