Mutagenetix > Incidental Mutation

Incidental Mutation 'R6821:Adamts8'

537629

Institutional Source

Beutler Lab

Gene Symbol

Adamts8

Ensembl Gene

ENSMUSG00000031994

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 8

Synonyms

METH2, METH-2

MMRRC Submission

044933-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R6821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30853858-30875134 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30867922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 582 (L582Q)

Ref Sequence

ENSEMBL: ENSMUSP00000069644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068135] [ENSMUST00000163037]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000068135
AA Change: L582Q

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000069644
Gene: ENSMUSG00000031994
AA Change: L582Q

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Pep_M12B_propep	35	152	6.4e-23	PFAM
Pfam:Reprolysin_5	232	418	1.3e-15	PFAM
Pfam:Reprolysin_4	233	435	3.4e-8	PFAM
Pfam:Reprolysin	234	444	3.8e-21	PFAM
Pfam:Reprolysin_2	252	434	1.3e-10	PFAM
Pfam:Reprolysin_3	255	389	7.4e-14	PFAM
TSP1	545	597	7.04e-14	SMART
Pfam:ADAM_spacer1	706	825	3.2e-35	PFAM
TSP1	851	904	5.35e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163037

SMART Domains

Protein: ENSMUSP00000124848
Gene: ENSMUSG00000031994

Domain	Start	End	E-Value	Type
PDB:2V4B\|B	22	128	2e-38	PDB
SCOP:d1kufa_	27	128	2e-22	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (63/65)

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 expressed in mouse lung, heart and macrophage-rich areas of atherosclerotic plaques. The encoded preproprotein undergoes proteolytic processing to generate an active, zinc-dependent aggrecanase enzyme. This gene is located adjacent to a related ADAMTS gene on chromosome 9. [provided by RefSeq, May 2016]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,277,268 (GRCm39)	I417T	probably benign	Het
Adamts12	A	C	15: 11,152,134 (GRCm39)	K208T	probably benign	Het
Aim2	C	G	1: 173,291,546 (GRCm39)	T317R	probably damaging	Het
Ano9	A	T	7: 140,687,169 (GRCm39)	F357I	possibly damaging	Het
Aox3	T	C	1: 58,189,547 (GRCm39)	V416A	probably benign	Het
Arhgap21	A	C	2: 20,853,659 (GRCm39)	F1901C	probably benign	Het
Atp8b2	A	T	3: 89,855,480 (GRCm39)	F506I	probably damaging	Het
Atp9b	A	T	18: 80,890,463 (GRCm39)	L292H	probably damaging	Het
C2cd5	A	G	6: 142,963,712 (GRCm39)	V891A	probably damaging	Het
Ccnt2	T	C	1: 127,731,072 (GRCm39)	S650P	probably damaging	Het
Cdhr3	T	A	12: 33,085,044 (GRCm39)	N791Y	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
D630003M21Rik	A	C	2: 158,046,694 (GRCm39)	L761R	probably damaging	Het
Draxin	G	T	4: 148,200,148 (GRCm39)	Q101K	possibly damaging	Het
Dtx3l	A	T	16: 35,753,430 (GRCm39)	L392Q	probably damaging	Het
Eif3d	A	G	15: 77,845,855 (GRCm39)	S389P	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epha4	T	C	1: 77,359,582 (GRCm39)	N757S	possibly damaging	Het
Fam228b	T	C	12: 4,813,083 (GRCm39)	I96V	probably benign	Het
Gars1	A	G	6: 55,056,323 (GRCm39)	E728G	probably benign	Het
Gldn	T	C	9: 54,246,054 (GRCm39)	M535T	probably benign	Het
Gm47985	A	G	1: 151,058,787 (GRCm39)	T143A	possibly damaging	Het
Gpr6	T	C	10: 40,947,004 (GRCm39)	T193A	probably benign	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
Hecw1	T	A	13: 14,438,719 (GRCm39)	Y1315F	probably damaging	Het
Hs3st2	A	G	7: 121,099,745 (GRCm39)	D197G	possibly damaging	Het
Igsf9	T	C	1: 172,312,060 (GRCm39)	I2T	probably benign	Het
Ints9	A	G	14: 65,274,907 (GRCm39)	E621G	probably benign	Het
Itm2b	G	A	14: 73,603,907 (GRCm39)	P47S	probably benign	Het
Map10	A	G	8: 126,397,138 (GRCm39)	K177R	probably benign	Het
Mdh2	T	C	5: 135,818,525 (GRCm39)	F260S	possibly damaging	Het
Mtmr11	A	G	3: 96,077,723 (GRCm39)	T573A	probably benign	Het
Mycbp2	A	T	14: 103,376,845 (GRCm39)	I3812N	probably damaging	Het
Myo15a	A	G	11: 60,415,301 (GRCm39)	N3403S	probably damaging	Het
Nvl	G	A	1: 180,954,535 (GRCm39)	Q343*	probably null	Het
Ocstamp	A	T	2: 165,239,842 (GRCm39)	S115T	probably benign	Het
Or51ai2	A	T	7: 103,586,793 (GRCm39)	I69F	probably benign	Het
Otoa	G	A	7: 120,692,070 (GRCm39)		probably null	Het
Pcdhb20	A	T	18: 37,639,175 (GRCm39)	N567I	probably damaging	Het
Pgm5	A	T	19: 24,839,011 (GRCm39)	V48E	possibly damaging	Het
Phlpp1	T	A	1: 106,314,174 (GRCm39)	S1182R	probably damaging	Het
Pik3r4	T	A	9: 105,527,805 (GRCm39)	L386Q	probably damaging	Het
Pop1	A	G	15: 34,508,785 (GRCm39)	K287E	possibly damaging	Het
Pramel23	A	T	4: 143,425,874 (GRCm39)	L23*	probably null	Het
Rad54b	A	G	4: 11,612,777 (GRCm39)	D803G	probably damaging	Het
Rbm26	G	A	14: 105,354,400 (GRCm39)		probably benign	Het
Rspry1	C	T	8: 95,362,059 (GRCm39)	Q113*	probably null	Het
Siah2	T	A	3: 58,599,191 (GRCm39)	S16C	probably benign	Het
Sirpa	C	A	2: 129,472,017 (GRCm39)	D481E	probably damaging	Het
Slc38a7	A	C	8: 96,571,548 (GRCm39)	D227E	probably benign	Het
Smc5	A	G	19: 23,220,151 (GRCm39)	V438A	probably benign	Het
Spast	A	G	17: 74,658,957 (GRCm39)	E108G	probably benign	Het
Speg	A	G	1: 75,394,547 (GRCm39)	E1752G	possibly damaging	Het
Tanc2	T	G	11: 105,777,316 (GRCm39)		probably null	Het
Tgfbi	T	C	13: 56,773,950 (GRCm39)	I243T	possibly damaging	Het
Tlr12	T	C	4: 128,510,685 (GRCm39)	S522G	possibly damaging	Het
Trav14-3	A	G	14: 54,000,929 (GRCm39)	I47V	probably benign	Het
Tsc22d4	T	C	5: 137,760,906 (GRCm39)	V109A	possibly damaging	Het
Ttl	G	A	2: 128,910,835 (GRCm39)	R73H	probably damaging	Het
Usp34	C	T	11: 23,317,491 (GRCm39)	T850I	possibly damaging	Het
Vdac3	T	C	8: 23,070,491 (GRCm39)	Y140C	probably damaging	Het
Vmn2r120	T	C	17: 57,843,659 (GRCm39)	R62G	probably benign	Het
Vmn2r17	T	A	5: 109,577,331 (GRCm39)	Y461N	probably damaging	Het
Wt1	T	A	2: 105,002,612 (GRCm39)	F493I	probably damaging	Het

Other mutations in Adamts8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Adamts8	APN	9	30,864,796 (GRCm39)	missense	probably damaging	1.00
IGL02049:Adamts8	APN	9	30,862,650 (GRCm39)	missense	probably damaging	0.96
IGL02304:Adamts8	APN	9	30,867,952 (GRCm39)	missense	possibly damaging	0.55
IGL02385:Adamts8	APN	9	30,873,026 (GRCm39)	missense	probably benign	0.10
IGL02536:Adamts8	APN	9	30,873,368 (GRCm39)	missense	probably benign	0.05
IGL03347:Adamts8	APN	9	30,870,534 (GRCm39)	missense	possibly damaging	0.75
R0633:Adamts8	UTSW	9	30,854,807 (GRCm39)	missense	probably damaging	1.00
R1066:Adamts8	UTSW	9	30,867,837 (GRCm39)	missense	probably damaging	1.00
R1464:Adamts8	UTSW	9	30,862,673 (GRCm39)	missense	probably benign
R1464:Adamts8	UTSW	9	30,862,673 (GRCm39)	missense	probably benign
R1560:Adamts8	UTSW	9	30,867,963 (GRCm39)	missense	probably damaging	1.00
R1592:Adamts8	UTSW	9	30,854,472 (GRCm39)	missense	probably damaging	0.99
R1753:Adamts8	UTSW	9	30,865,910 (GRCm39)	missense	probably benign	0.04
R1932:Adamts8	UTSW	9	30,867,808 (GRCm39)	missense	probably benign
R2087:Adamts8	UTSW	9	30,873,408 (GRCm39)	missense	probably damaging	1.00
R2118:Adamts8	UTSW	9	30,854,359 (GRCm39)	missense	probably damaging	1.00
R3789:Adamts8	UTSW	9	30,870,588 (GRCm39)	missense	probably damaging	1.00
R4165:Adamts8	UTSW	9	30,862,684 (GRCm39)	missense	probably benign	0.01
R4166:Adamts8	UTSW	9	30,862,684 (GRCm39)	missense	probably benign	0.01
R4193:Adamts8	UTSW	9	30,870,604 (GRCm39)	missense	probably damaging	1.00
R4425:Adamts8	UTSW	9	30,867,952 (GRCm39)	missense	possibly damaging	0.55
R5155:Adamts8	UTSW	9	30,865,844 (GRCm39)	missense	probably benign	0.33
R5433:Adamts8	UTSW	9	30,873,012 (GRCm39)	missense	probably benign	0.01
R5544:Adamts8	UTSW	9	30,863,999 (GRCm39)	missense	probably damaging	1.00
R5590:Adamts8	UTSW	9	30,862,632 (GRCm39)	missense	probably damaging	0.97
R5640:Adamts8	UTSW	9	30,867,796 (GRCm39)	missense	probably benign	0.00
R5800:Adamts8	UTSW	9	30,865,778 (GRCm39)	missense	probably damaging	1.00
R5909:Adamts8	UTSW	9	30,873,224 (GRCm39)	missense	probably benign	0.00
R6967:Adamts8	UTSW	9	30,865,787 (GRCm39)	missense	probably benign	0.04
R7336:Adamts8	UTSW	9	30,873,363 (GRCm39)	missense	probably benign	0.00
R7538:Adamts8	UTSW	9	30,864,766 (GRCm39)	missense	probably damaging	1.00
R7540:Adamts8	UTSW	9	30,870,360 (GRCm39)	missense	probably damaging	0.96
R7942:Adamts8	UTSW	9	30,870,209 (GRCm39)	critical splice acceptor site	probably null
R7942:Adamts8	UTSW	9	30,864,778 (GRCm39)	missense	probably damaging	1.00
R8085:Adamts8	UTSW	9	30,854,611 (GRCm39)	missense	probably benign	0.01
R8795:Adamts8	UTSW	9	30,854,484 (GRCm39)	missense	probably benign	0.00
R8877:Adamts8	UTSW	9	30,862,688 (GRCm39)	missense	probably damaging	1.00
R8900:Adamts8	UTSW	9	30,865,930 (GRCm39)	missense	probably benign	0.01
R9141:Adamts8	UTSW	9	30,864,721 (GRCm39)	missense	possibly damaging	0.72
R9224:Adamts8	UTSW	9	30,854,188 (GRCm39)	missense	probably benign	0.18
R9326:Adamts8	UTSW	9	30,854,886 (GRCm39)	missense	probably benign
R9331:Adamts8	UTSW	9	30,862,770 (GRCm39)	missense	probably damaging	1.00
R9426:Adamts8	UTSW	9	30,864,721 (GRCm39)	missense	possibly damaging	0.72
R9796:Adamts8	UTSW	9	30,862,569 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCAGATGAGGAAGTCAGGCC -3'
(R):5'- AAGAACAGTCTTGGGTGCCTG -3'

Sequencing Primer
(F):5'- TAGAGGACTGAAACCTGCTTC -3'
(R):5'- TGAGGACTGTTCCCAAGCTTGAC -3'

Posted On

2018-10-18