Mutagenetix > Incidental Mutation

Incidental Mutation 'R4891:Adamts19'

377326

Institutional Source

Beutler Lab

Gene Symbol

Adamts19

Ensembl Gene

ENSMUSG00000053441

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 19

Synonyms

D230034E10Rik

MMRRC Submission

042496-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4891 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58969739-59187132 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59166072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1088 (Y1088C)

Ref Sequence

ENSEMBL: ENSMUSP00000050535 (fasta)

Gene Model

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

AlphaFold

P59509

Predicted Effect

probably damaging
Transcript: ENSMUST00000052907
AA Change: Y1088C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000050535
Gene: ENSMUSG00000053441
AA Change: Y1088C

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

0.2176

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (39/39)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cercam	C	A	2: 29,759,283 (GRCm39)		probably benign	Het
Chst1	A	G	2: 92,444,337 (GRCm39)	T270A	possibly damaging	Het
Cluh	C	T	11: 74,555,885 (GRCm39)	T816I	possibly damaging	Het
Edn3	A	G	2: 174,603,525 (GRCm39)	H91R	probably benign	Het
Fam135a	A	G	1: 24,069,409 (GRCm39)	S487P	probably benign	Het
Galns	T	A	8: 123,325,895 (GRCm39)	D212V	possibly damaging	Het
Grin2a	A	G	16: 9,475,570 (GRCm39)	V582A	possibly damaging	Het
Hs3st4	T	A	7: 123,996,052 (GRCm39)	N239K	possibly damaging	Het
Kmt2b	C	T	7: 30,276,186 (GRCm39)	W1062*	probably null	Het
Lrp1	T	C	10: 127,377,621 (GRCm39)	N4110S	probably damaging	Het
Mag	T	C	7: 30,599,793 (GRCm39)	H582R	possibly damaging	Het
Maml3	C	T	3: 51,601,931 (GRCm39)		probably benign	Het
Ndufa5	A	G	6: 24,519,246 (GRCm39)	V26A	possibly damaging	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Or13j1	C	T	4: 43,706,194 (GRCm39)	A125T	probably damaging	Het
Or51g2	T	A	7: 102,622,759 (GRCm39)	I147L	probably benign	Het
Or5ac24	T	A	16: 59,165,834 (GRCm39)	T77S	possibly damaging	Het
Plxdc2	A	G	2: 16,716,957 (GRCm39)	H347R	probably benign	Het
Ptprn2	A	G	12: 117,196,985 (GRCm39)		probably null	Het
Rab3gap2	C	T	1: 184,991,563 (GRCm39)	A683V	probably benign	Het
Rnf157	A	G	11: 116,249,496 (GRCm39)	V240A	probably damaging	Het
Slc10a5	A	T	3: 10,399,685 (GRCm39)	V325E	possibly damaging	Het
Slc5a9	C	A	4: 111,748,941 (GRCm39)		probably null	Het
Sptbn2	C	T	19: 4,788,497 (GRCm39)	R1159C	probably damaging	Het
Stk36	A	G	1: 74,642,415 (GRCm39)	D14G	probably damaging	Het
Thap2	T	C	10: 115,208,601 (GRCm39)	K173R	probably damaging	Het
Themis2	G	T	4: 132,510,668 (GRCm39)	Q625K	probably benign	Het
Vcpip1	G	T	1: 9,818,287 (GRCm39)	P32Q	unknown	Het
Vmn1r229	A	T	17: 21,035,081 (GRCm39)	T109S	probably damaging	Het
Vps13b	T	A	15: 35,640,661 (GRCm39)		probably null	Het
Wdr64	A	G	1: 175,526,345 (GRCm39)		probably benign	Het
Wiz	A	G	17: 32,576,602 (GRCm39)	S642P	possibly damaging	Het
Zdhhc1	C	T	8: 106,199,649 (GRCm39)	R383Q	probably benign	Het
Zfp462	T	C	4: 55,060,055 (GRCm39)	S1194P	probably 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
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
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'- TGACAGAAACCGTTACTGAGC -3'
(R):5'- CCAGCTATGATGTTAGACATGTG -3'

Sequencing Primer
(F):5'- GAGCATGCCTTAATCCATAGCCTG -3'
(R):5'- GACATGTGATGTATTTTATCGCAATC -3'

Posted On

2016-03-17