Mutagenetix > Incidental Mutation

Incidental Mutation 'R1994:Adamts19'

224238

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1994 (G1)

Quality Score

225

Status

Not 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 58972831 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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,282,670		probably null	Het
Abcc8	T	G	7: 46,157,119	R388S	probably benign	Het
Abhd18	C	T	3: 40,934,926	R414*	probably null	Het
Acap1	C	T	11: 69,889,498	V40I	probably benign	Het
Actn1	C	A	12: 80,204,971	G111*	probably null	Het
Adam26b	T	C	8: 43,520,639	Q442R	probably benign	Het
Agtpbp1	T	G	13: 59,531,058	K145N	probably damaging	Het
AI661453	A	G	17: 47,467,034		probably benign	Het
Ap4e1	T	C	2: 127,061,547	S790P	probably benign	Het
Asmt	A	G	X: 170,675,789	E168G	possibly damaging	Het
Atp2a3	T	A	11: 72,975,414	S287T	probably damaging	Het
AY358078	T	A	14: 51,826,062	D388E	probably damaging	Het
Bicd1	A	T	6: 149,513,552	T588S	probably benign	Het
Birc6	T	G	17: 74,598,062	N1283K	probably benign	Het
Cacna1e	T	A	1: 154,477,817	Q423L	probably damaging	Het
Capn3	T	A	2: 120,495,937	Y537N	probably damaging	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Chgb	T	C	2: 132,786,498	S48P	possibly damaging	Het
Cidec	T	A	6: 113,428,232	Y159F	probably damaging	Het
Clec18a	T	C	8: 111,081,602	S66G	possibly damaging	Het
Cpsf1	G	A	15: 76,603,160	T138M	probably benign	Het
Dclre1c	C	T	2: 3,437,985	R61W	probably damaging	Het
Eef1akmt1	A	C	14: 57,550,454	V149G	probably benign	Het
Fam131b	T	C	6: 42,320,884	T112A	possibly damaging	Het
Fbln2	A	G	6: 91,234,301	E409G	probably damaging	Het
Fkbp15	G	A	4: 62,304,381	P1094S	probably benign	Het
Fpr1	A	G	17: 17,877,617	S37P	probably benign	Het
Fryl	G	T	5: 73,108,493	T495K	probably damaging	Het
Gja6	A	T	X: 160,903,378	I186N	possibly damaging	Het
Gm4922	T	C	10: 18,783,640	T445A	probably benign	Het
Gria2	G	A	3: 80,802,357	L10F	probably benign	Het
Gspt2	A	G	X: 94,637,419	D388G	possibly damaging	Het
Hdc	T	A	2: 126,616,187	I72F	probably damaging	Het
Igf2r	T	C	17: 12,692,738	K1905E	probably benign	Het
Il33	A	G	19: 29,956,904	D155G	possibly damaging	Het
Klk1b9	C	T	7: 43,979,555	T161I	probably benign	Het
Mfsd12	C	A	10: 81,357,681	H28Q	probably damaging	Het
Mgat5	A	T	1: 127,459,959	I551F	possibly damaging	Het
Miga2	A	T	2: 30,381,988	D25V	probably damaging	Het
Mlc1	T	C	15: 88,974,579	N122S	possibly damaging	Het
Mmp20	T	A	9: 7,645,292	M281K	probably benign	Het
Muc5ac	C	A	7: 141,813,152	P2232T	possibly damaging	Het
N4bp2l2	A	G	5: 150,661,283	S411P	possibly damaging	Het
Ngef	G	A	1: 87,487,904	S346L	probably damaging	Het
Nov	T	A	15: 54,749,354	V253E	probably benign	Het
Olfr1217	T	A	2: 89,023,143	T287S	probably damaging	Het
Olfr1309	T	A	2: 111,984,084	M5L	probably benign	Het
Olfr1408	C	T	1: 173,130,851	R122H	possibly damaging	Het
Olfr553	C	T	7: 102,614,540	V150M	probably damaging	Het
Olfr612	T	C	7: 103,538,359	I292V	possibly damaging	Het
Olfr661	T	C	7: 104,688,483	I156T	probably benign	Het
Olfr720	A	G	14: 14,175,854	I76T	probably benign	Het
Olfr782	T	A	10: 129,350,692	I43N	probably damaging	Het
Olfr811	T	C	10: 129,801,661	Y288C	probably damaging	Het
Papd5	C	T	8: 88,246,484	T277M	probably damaging	Het
Pecam1	G	T	11: 106,695,937	H150N	possibly damaging	Het
Polr3c	A	T	3: 96,714,373		probably null	Het
Pop1	A	C	15: 34,530,471	Q1005P	probably damaging	Het
Prss22	G	A	17: 23,996,314	P163S	probably damaging	Het
Prss33	G	A	17: 23,834,198	A223V	probably damaging	Het
Prss53	C	T	7: 127,887,393	V354I	probably benign	Het
Rab3gap2	C	T	1: 185,236,024	T191I	probably damaging	Het
Rictor	T	C	15: 6,776,156	F608L	probably benign	Het
Ryr3	T	A	2: 112,654,492	E3884V	probably null	Het
Scaf11	G	A	15: 96,418,840	R948*	probably null	Het
Sec61g	A	T	11: 16,506,444	V40E	probably damaging	Het
Serpinb3d	A	T	1: 107,080,788	F116I	possibly damaging	Het
Sipa1l3	T	C	7: 29,399,611	D411G	probably benign	Het
Slc13a3	T	C	2: 165,434,064	N254S	possibly damaging	Het
Slc35a2	T	A	X: 7,892,825	L110Q	probably damaging	Het
Spata31d1b	G	C	13: 59,716,380	L447F	probably benign	Het
Spsb2	T	C	6: 124,809,366		probably null	Het
Tmcc3	T	C	10: 94,578,606	S57P	possibly damaging	Het
Traf7	A	G	17: 24,510,502	V445A	probably damaging	Het
Trib1	A	G	15: 59,649,343	S61G	possibly damaging	Het
Trip12	A	T	1: 84,749,172	F36I	probably damaging	Het
Tshz3	T	C	7: 36,769,822	I412T	probably damaging	Het
Tsku	T	C	7: 98,352,146	Y326C	probably damaging	Het
Ttc30b	A	G	2: 75,938,058	L117P	probably damaging	Het
Ttn	T	G	2: 76,881,694		probably benign	Het
Ugt1a6a	G	A	1: 88,138,748	R92H	probably benign	Het
Vmn1r63	A	G	7: 5,803,255	V126A	probably benign	Het
Vmn2r84	T	A	10: 130,386,009	S781C	probably damaging	Het
Wdr91	T	A	6: 34,892,362	H409L	probably damaging	Het
Wnt7a	T	A	6: 91,365,956	T315S	possibly damaging	Het
Zdhhc25	A	G	15: 88,600,824	T121A	probably benign	Het
Zfp109	T	C	7: 24,229,318	H222R	probably benign	Het
Zfp286	A	G	11: 62,779,820	S476P	probably damaging	Het
Zfp605	T	C	5: 110,127,552	Y179H	probably damaging	Het
Zfp955a	T	C	17: 33,241,646	H504R	probably damaging	Het
Zswim2	T	A	2: 83,915,663	N477I	possibly 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
R0081:Adamts19	UTSW	18	58903065	critical splice donor site	probably null
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
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'- ATATTGATGAGTCCGTTATCTCTCC -3'
(R):5'- TCAGCCTTGAAGATGACCGAG -3'

Sequencing Primer
(F):5'- CCTCTATCCACTGTCTATGCAG -3'
(R):5'- TTGAAGATGACCGAGCTGCC -3'

Posted On

2014-08-25