Mutagenetix > Incidental Mutation

Incidental Mutation 'R9697:Adamts19'

729400

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9697 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58836764-59053678 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58968762 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 635 (P635T)

Ref Sequence

ENSEMBL: ENSMUSP00000050535 (fasta)

Gene Model

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

AlphaFold

P59509

Predicted Effect

probably damaging
Transcript: ENSMUST00000052907
AA Change: P635T

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050535
Gene: ENSMUSG00000053441
AA Change: P635T

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 14,943,507		probably benign	Het
9330182O14Rik	C	T	15: 40,142,104		probably benign	Het
Adgrf1	T	C	17: 43,314,471	W857R	possibly damaging	Het
Ak9	T	G	10: 41,422,972	Y1556*	probably null	Het
Ang2	T	C	14: 51,195,869	I19V	probably benign	Het
Ano3	T	A	2: 110,665,908	T834S	probably damaging	Het
As3mt	A	T	19: 46,719,981	I236F	probably benign	Het
Asns	A	T	6: 7,689,268	I78N	probably damaging	Het
Bet1	G	A	6: 4,082,471	T44M	probably damaging	Het
Cabyr	T	C	18: 12,751,350	V298A	possibly damaging	Het
Cacna1c	A	G	6: 118,612,637	V1601A		Het
Ccni	A	T	5: 93,202,342	M26K	probably damaging	Het
Cdhr2	T	C	13: 54,719,866	I503T	probably damaging	Het
Cfap54	T	C	10: 92,956,989	K1754R	unknown	Het
Cfap69	A	G	5: 5,626,041	V218A	possibly damaging	Het
Clcn3	A	G	8: 60,919,484	L741P	probably damaging	Het
Cntnap1	T	C	11: 101,178,002	F124L	possibly damaging	Het
Col20a1	G	A	2: 180,999,784	G673D	probably benign	Het
Col4a2	A	G	8: 11,437,628	I977V	probably benign	Het
Cyp3a59	A	T	5: 146,094,380	I118F	probably damaging	Het
Dgcr8	A	T	16: 18,280,419	D369E	probably benign	Het
Dhtkd1	T	C	2: 5,914,840	T577A	probably benign	Het
Dock2	A	T	11: 34,254,417	M1375K	probably benign	Het
Fa2h	G	A	8: 111,348,027	H315Y	probably damaging	Het
Foxd2	G	A	4: 114,908,487	P112L	unknown	Het
Gin1	A	G	1: 97,785,172	I317V	probably benign	Het
Gpr180	G	A	14: 118,153,890	G235R	probably damaging	Het
H2-T3	T	A	17: 36,189,852	Y33F	probably damaging	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Il12rb1	G	A	8: 70,811,230	W145*	probably null	Het
Il6ra	A	G	3: 89,877,912	V330A	probably benign	Het
Impdh2	T	C	9: 108,561,648	S67P	possibly damaging	Het
Ltbp3	T	A	19: 5,742,493	S85T	probably benign	Het
Magi3	A	G	3: 104,049,142		probably null	Het
Mettl4	T	A	17: 94,727,378	I430F	probably damaging	Het
Mmd	T	A	11: 90,276,753	F203I	probably damaging	Het
Nlgn1	T	C	3: 25,439,871	T305A	possibly damaging	Het
Ntn1	A	G	11: 68,277,530	V367A	probably damaging	Het
Olfr1369-ps1	A	T	13: 21,115,722	H10L	probably benign	Het
Olfr1461	G	A	19: 13,165,524	C170Y	possibly damaging	Het
Pcdh12	T	C	18: 38,281,969	H701R	possibly damaging	Het
Pcgf3	G	A	5: 108,473,907		probably null	Het
Pik3c2g	G	A	6: 139,967,791	V972M	unknown	Het
Pink1	A	G	4: 138,314,012	C563R	possibly damaging	Het
Prol1	A	T	5: 88,318,567	N3I	probably benign	Het
Ptpro	T	G	6: 137,386,290	I474S	probably damaging	Het
Rabgef1	A	G	5: 130,212,940	E395G	probably benign	Het
Rpgrip1l	G	T	8: 91,260,763	H889N	possibly damaging	Het
Sapcd2	T	A	2: 25,372,913	C161*	probably null	Het
Sbsn	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	7: 30,752,966		probably benign	Het
Spen	A	G	4: 141,468,964	L3625P	probably damaging	Het
Stil	T	C	4: 115,021,504	I379T	probably benign	Het
Stim1	A	G	7: 102,428,807	D172G		Het
Timm50	A	G	7: 28,310,925	L68P	probably damaging	Het
Tlr9	C	T	9: 106,223,524	R5*	probably null	Het
Top1mt	A	T	15: 75,676,025	Y71N	probably damaging	Het
Trpv4	A	G	5: 114,633,224	Y415H	possibly damaging	Het
Try10	C	T	6: 41,354,107		probably benign	Het
Uhrf2	A	G	19: 30,086,380	E581G	probably damaging	Het
Usp17lb	G	A	7: 104,841,288	T144I	possibly damaging	Het
Vmn1r64	T	C	7: 5,883,860	N228S	probably benign	Het
Vwa1	G	A	4: 155,772,879	P154L	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
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
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
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'- TAATGACATCAGATCCAGGAGAGTG -3'
(R):5'- TTACAGGTGGCAACGGCTTTG -3'

Sequencing Primer
(F):5'- GGACCTTAATGTTGGAAGTGCTAAC -3'
(R):5'- GCTTTGTTAGCTCAAAACTGATGACC -3'

Posted On

2022-10-06