Mutagenetix > Incidental Mutation

Incidental Mutation 'R0081:Adamts19'

44302

Institutional Source

Beutler Lab

Gene Symbol

Adamts19

Ensembl Gene

ENSMUSG00000053441

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 19

Synonyms

D230034E10Rik

MMRRC Submission

038368-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0081 (G1)

Quality Score

153

Status

Validated

Chromosome

Chromosomal Location

58836764-59053678 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 58903065 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000050535 (fasta)

Gene Model

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

AlphaFold

P59509

Predicted Effect

probably null
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

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 99.0%
3x: 97.2%
10x: 88.5%
20x: 63.6%

Validation Efficiency

94% (159/169)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	C	8: 24,781,687	D485G	probably damaging	Het
Adgrd1	A	T	5: 129,178,082	I598F	probably damaging	Het
Adh5	A	G	3: 138,451,413	D245G	probably benign	Het
Adra2b	T	C	2: 127,364,292	V238A	probably benign	Het
Ank1	G	A	8: 23,116,242	V1188I	possibly damaging	Het
Asap1	C	T	15: 64,099,564	G905D	probably damaging	Het
AW554918	T	C	18: 25,344,902	V428A	probably benign	Het
Birc6	T	A	17: 74,643,441	S3226T	probably benign	Het
Cdh17	A	T	4: 11,785,280		probably benign	Het
Cyfip2	A	T	11: 46,253,998	Y676*	probably null	Het
Dcaf17	T	A	2: 71,078,468		probably benign	Het
Dclre1a	A	G	19: 56,542,707	F736L	probably damaging	Het
Ddx41	A	T	13: 55,535,380	H171Q	possibly damaging	Het
Dennd5b	G	T	6: 148,993,759	Q1258K	probably benign	Het
Dock10	T	C	1: 80,606,578	D137G	probably damaging	Het
Dpyd	G	A	3: 118,944,255	V482I	probably benign	Het
Erich6	A	T	3: 58,636,126		probably benign	Het
Fam193b	A	G	13: 55,554,211		probably benign	Het
Foxp2	T	C	6: 15,405,644		probably benign	Het
Frmd4a	T	C	2: 4,572,441		probably null	Het
Gas2l2	A	G	11: 83,422,867	S540P	possibly damaging	Het
Glis2	T	C	16: 4,613,653	V348A	probably benign	Het
Gm14443	C	A	2: 175,169,936	G239V	probably damaging	Het
Gpr158	T	C	2: 21,826,717	V876A	probably damaging	Het
H1foo	A	G	6: 115,949,981	E273G	probably benign	Het
Hadh	C	T	3: 131,235,636	D245N	probably damaging	Het
Hk2	A	T	6: 82,734,976		probably benign	Het
Ice1	A	T	13: 70,619,044	Y108*	probably null	Het
Il10ra	T	G	9: 45,255,949	M435L	probably benign	Het
Inpp5k	GT	G	11: 75,631,147		probably null	Het
Kank4	G	T	4: 98,778,330	P627T	probably benign	Het
Kif16b	A	G	2: 142,707,426		probably benign	Het
Lipn	A	G	19: 34,076,976	I205V	probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Myh1	T	C	11: 67,215,857	M1255T	probably benign	Het
Myl3	A	C	9: 110,767,929	D119A	probably damaging	Het
Myo1d	T	G	11: 80,557,523	K925N	probably benign	Het
Myoz1	T	A	14: 20,649,554	M239L	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Nf1	C	A	11: 79,453,979		probably benign	Het
Npepl1	C	T	2: 174,116,086	P239S	probably damaging	Het
Olfml1	A	G	7: 107,571,299	K131R	probably benign	Het
Olfr1258	T	A	2: 89,930,079	I90K	possibly damaging	Het
Olfr1303	A	C	2: 111,813,868	I286S	probably damaging	Het
Olfr344	T	A	2: 36,568,881	Y94*	probably null	Het
Olfr352	T	C	2: 36,870,010	L148S	possibly damaging	Het
Olfr358	G	A	2: 37,005,450	L55F	probably damaging	Het
Olfr389	A	G	11: 73,777,109	F73L	possibly damaging	Het
Olfr472	C	T	7: 107,903,005	T96I	probably benign	Het
Olfr771	C	T	10: 129,160,838	D49N	possibly damaging	Het
Pde7a	T	C	3: 19,241,533		probably benign	Het
Pik3c2g	T	C	6: 139,957,793	C591R	probably benign	Het
Pkn2	T	G	3: 142,853,582	K61Q	probably damaging	Het
Ppfia1	C	A	7: 144,504,974	G722C	probably damaging	Het
Ppp1cb	T	C	5: 32,487,614	V263A	probably damaging	Het
Rab11fip2	A	T	19: 59,907,135	N440K	possibly damaging	Het
Rbm34	T	A	8: 126,949,484	K340N	probably damaging	Het
Samd3	T	C	10: 26,271,501		probably benign	Het
Sfi1	TCGC	TC	11: 3,146,254		probably null	Het
Sigirr	T	C	7: 141,091,372	D399G	probably damaging	Het
Slc17a7	A	G	7: 45,174,947	E554G	probably benign	Het
Smc3	A	G	19: 53,601,562		probably benign	Het
Tdrd1	T	C	19: 56,831,271	Y68H	probably benign	Het
Tespa1	T	A	10: 130,360,850	L219Q	probably damaging	Het
Tmem144	G	A	3: 79,839,273		probably benign	Het
Ttc38	A	G	15: 85,856,472	S436G	probably benign	Het
Ttn	T	A	2: 76,751,079	I23157F	probably damaging	Het
Ubxn2b	T	A	4: 6,203,875		probably benign	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vmn2r72	T	C	7: 85,751,836	E125G	probably benign	Het
Vmn2r78	A	T	7: 86,923,027	D532V	probably benign	Het
Vwa8	C	A	14: 79,082,782	L1078I	probably benign	Het
Vwce	A	T	19: 10,664,089		probably null	Het
Zpr1	A	G	9: 46,279,697	D300G	probably damaging	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
IGL01328:Adamts19	APN	18	59048882	missense	possibly damaging	0.89
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
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
R7974:Adamts19	UTSW	18	59011022	missense	possibly damaging	0.72
R7991:Adamts19	UTSW	18	59052654	missense	probably damaging	1.00
R8129:Adamts19	UTSW	18	59007487	critical splice donor site	probably null
R8297:Adamts19	UTSW	18	58837848	missense	probably damaging	1.00
R8336:Adamts19	UTSW	18	59007372	missense	possibly damaging	0.78
R8358:Adamts19	UTSW	18	59048809	missense	probably damaging	1.00
R8864:Adamts19	UTSW	18	58890425	nonsense	probably null
R9051:Adamts19	UTSW	18	58900976	missense	probably damaging	1.00
R9253:Adamts19	UTSW	18	58969941	missense	probably damaging	0.98
R9423:Adamts19	UTSW	18	58890355	missense	possibly damaging	0.89
R9610:Adamts19	UTSW	18	58890327	missense	probably benign	0.26
R9611:Adamts19	UTSW	18	58890327	missense	probably benign	0.26
R9686:Adamts19	UTSW	18	58838021	missense	probably benign	0.00
R9697:Adamts19	UTSW	18	58968762	missense	probably damaging	0.99
R9747:Adamts19	UTSW	18	58890415	missense	possibly damaging	0.69
Z1177:Adamts19	UTSW	18	58838075	missense	probably damaging	1.00
Z1177:Adamts19	UTSW	18	58890374	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- TGAAAGCGACCTCTGTTGTAGGC -3'
(R):5'- AGGACATACTATTGTGCATTGTTCCCC -3'

Sequencing Primer
(F):5'- TGTAAGTGGCAGCACGAA -3'
(R):5'- CAGAAAGTCTTTTCTCAGATGGGC -3'

Posted On

2013-06-11