Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00970:Adamts19'

29450

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 #

IGL00970

Quality Score

Status

Chromosome

Chromosomal Location

58969739-59187132 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59144149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 910 (N910K)

Ref Sequence

ENSEMBL: ENSMUSP00000050535 (fasta)

Gene Model

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

AlphaFold

P59509

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052907
AA Change: N910K

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050535
Gene: ENSMUSG00000053441
AA Change: N910K

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b5	A	G	4: 43,311,938 (GRCm39)	T184A	probably benign	Het
Cabp7	T	C	11: 4,688,931 (GRCm39)	I180V	probably benign	Het
Casp8ap2	A	G	4: 32,646,182 (GRCm39)	T1752A	probably benign	Het
Dgkb	T	C	12: 38,240,082 (GRCm39)	L453P	probably damaging	Het
Disp2	A	C	2: 118,622,274 (GRCm39)	D1002A	probably damaging	Het
Eif3c	G	A	7: 126,158,180 (GRCm39)	P259S	probably benign	Het
Eif4a3l1	A	G	6: 136,306,109 (GRCm39)	D169G	probably damaging	Het
Fam227b	A	T	2: 125,968,980 (GRCm39)	D31E	probably benign	Het
Farp2	T	C	1: 93,488,049 (GRCm39)	V92A	probably benign	Het
Fhod1	C	A	8: 106,058,734 (GRCm39)	V745L	possibly damaging	Het
Gprin3	T	C	6: 59,330,822 (GRCm39)	E495G	possibly damaging	Het
Grm5	T	C	7: 87,453,104 (GRCm39)	I247T	probably damaging	Het
Herc2	T	C	7: 55,830,812 (GRCm39)		probably benign	Het
Hoatz	T	A	9: 50,994,886 (GRCm39)	K148*	probably null	Het
Hspg2	C	A	4: 137,269,901 (GRCm39)	Q2311K	probably benign	Het
Krt26	T	C	11: 99,222,107 (GRCm39)	Y400C	probably benign	Het
Lct	A	T	1: 128,231,805 (GRCm39)	D681E	probably damaging	Het
Lgalsl	G	T	11: 20,776,493 (GRCm39)	P133Q	probably benign	Het
Man2b2	C	T	5: 36,973,487 (GRCm39)	W76*	probably null	Het
Mylk4	T	C	13: 32,899,905 (GRCm39)	E326G	probably damaging	Het
Odam	T	G	5: 88,034,467 (GRCm39)		probably benign	Het
Pabpc4	T	C	4: 123,180,608 (GRCm39)	I110T	probably damaging	Het
Pcdh15	A	T	10: 74,215,172 (GRCm39)	D47V	probably damaging	Het
Plekhg4	C	T	8: 106,105,067 (GRCm39)	R577C	probably benign	Het
Pnpo	C	A	11: 96,834,618 (GRCm39)	C26F	possibly damaging	Het
Polg	T	C	7: 79,101,493 (GRCm39)	I1071M	probably benign	Het
Prr23a2	A	G	9: 98,739,014 (GRCm39)	D124G	probably benign	Het
Rexo1	C	T	10: 80,386,798 (GRCm39)	V87I	probably damaging	Het
Robo2	C	A	16: 73,693,934 (GRCm39)	V1502L	probably benign	Het
Ruvbl2	A	G	7: 45,078,994 (GRCm39)	L50P	possibly damaging	Het
Ryr3	T	C	2: 112,595,021 (GRCm39)	K2534E	probably damaging	Het
Scfd2	T	C	5: 74,691,595 (GRCm39)	H229R	possibly damaging	Het
Sesn3	A	G	9: 14,232,438 (GRCm39)	D237G	probably damaging	Het
Shank1	T	C	7: 44,003,662 (GRCm39)	S1785P	possibly damaging	Het
Slc11a1	A	G	1: 74,419,821 (GRCm39)	T165A	probably damaging	Het
Star	G	A	8: 26,302,894 (GRCm39)		probably null	Het
Trpc6	A	T	9: 8,653,152 (GRCm39)	N575Y	probably damaging	Het
Unc5d	T	C	8: 29,186,456 (GRCm39)	T598A	probably benign	Het
Vmn1r200	A	T	13: 22,579,893 (GRCm39)	Q232L	probably damaging	Het
Wdr31	T	C	4: 62,375,757 (GRCm39)	T233A	probably damaging	Het
Zzef1	G	A	11: 72,806,071 (GRCm39)	R2669Q	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
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

2013-04-17