Mutagenetix > Incidental Mutation

Incidental Mutation 'R0967:Adamts19'

83927

Institutional Source

Beutler Lab

Gene Symbol

Adamts19

Ensembl Gene

ENSMUSG00000053441

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 19

Synonyms

D230034E10Rik

MMRRC Submission

039096-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0967 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58969739-59187132 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 59105812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 736 (E736*)

Ref Sequence

ENSEMBL: ENSMUSP00000050535 (fasta)

Gene Model

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

AlphaFold

P59509

Predicted Effect

probably null
Transcript: ENSMUST00000052907
AA Change: E736*

SMART Domains

Protein: ENSMUSP00000050535
Gene: ENSMUSG00000053441
AA Change: E736*

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

0.9755

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.1%
20x: 90.5%

Validation Efficiency

100% (44/44)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn7l3	C	G	11: 102,183,261 (GRCm39)		probably benign	Het
Camk1g	T	C	1: 193,032,604 (GRCm39)	E269G	probably damaging	Het
Ccrl2	G	A	9: 110,884,754 (GRCm39)	T248M	probably benign	Het
Chd9	T	C	8: 91,716,107 (GRCm39)	S421P	probably damaging	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Cplane2	T	C	4: 140,947,162 (GRCm39)	M181T	probably benign	Het
Csmd3	T	C	15: 47,721,227 (GRCm39)	E1468G	probably null	Het
Cyc1	T	C	15: 76,229,848 (GRCm39)		probably benign	Het
Fli1	T	A	9: 32,372,745 (GRCm39)	T98S	probably benign	Het
Gk2	T	C	5: 97,604,155 (GRCm39)	S228G	probably benign	Het
Gse1	T	A	8: 121,297,594 (GRCm39)		probably benign	Het
Hgf	T	A	5: 16,798,839 (GRCm39)		probably benign	Het
Hif1a	G	A	12: 73,984,444 (GRCm39)	V300I	possibly damaging	Het
Hsd17b4	C	A	18: 50,316,328 (GRCm39)	H652N	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Kif5c	T	A	2: 49,588,128 (GRCm39)		probably benign	Het
Lgr6	T	C	1: 134,921,750 (GRCm39)	Y198C	probably damaging	Het
Lpcat2b	T	A	5: 107,582,084 (GRCm39)	M471K	possibly damaging	Het
Med21	A	G	6: 146,551,697 (GRCm39)	E116G	probably benign	Het
Mos	A	G	4: 3,870,932 (GRCm39)	S295P	probably benign	Het
Ms4a15	A	T	19: 10,956,685 (GRCm39)	V209E	probably damaging	Het
Mttp	A	G	3: 137,798,484 (GRCm39)	V804A	probably benign	Het
Or10ah1-ps1	A	G	5: 143,123,594 (GRCm39)	M121T	probably damaging	Het
Or52n4b	T	C	7: 108,143,996 (GRCm39)	I86T	probably damaging	Het
Or5ac23	T	A	16: 59,149,546 (GRCm39)	T109S	possibly damaging	Het
Plagl1	T	C	10: 13,003,986 (GRCm39)		probably benign	Het
Prpf8	T	A	11: 75,385,256 (GRCm39)	V797E	probably damaging	Het
Rars2	A	G	4: 34,646,587 (GRCm39)	D284G	probably benign	Het
Rassf8	T	C	6: 145,765,676 (GRCm39)		probably benign	Het
Rfx3	A	G	19: 27,783,751 (GRCm39)		probably benign	Het
Ripk4	A	T	16: 97,545,372 (GRCm39)	M362K	probably damaging	Het
Rubcn	C	A	16: 32,646,087 (GRCm39)	E815D	probably benign	Het
Scn8a	A	G	15: 100,933,527 (GRCm39)	Y1577C	probably damaging	Het
Sec24b	C	T	3: 129,790,431 (GRCm39)	R698Q	probably damaging	Het
Ssc5d	T	A	7: 4,947,342 (GRCm39)	L1232*	probably null	Het
Usp7	A	T	16: 8,514,518 (GRCm39)		probably benign	Het
Vmn2r51	T	G	7: 9,834,012 (GRCm39)	H342P	probably damaging	Het
Vmn2r70	A	G	7: 85,208,827 (GRCm39)	M550T	probably damaging	Het
Vmn2r81	T	C	10: 79,083,857 (GRCm39)		probably benign	Het
Zc3h13	T	C	14: 75,581,179 (GRCm39)	I1722T	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGTGAGTTGAGAGTGAGAATGCTACCA -3'
(R):5'- tgaggccATCTGAttcccccaaa -3'

Sequencing Primer
(F):5'- atgcacacatatataACATTTGAGGC -3'
(R):5'- tcccccaaatatcagtctaaagc -3'

Posted On

2013-11-08