Mutagenetix > Incidental Mutation

Incidental Mutation 'R1753:Adamts8'

193751

Institutional Source

Beutler Lab

Gene Symbol

Adamts8

Ensembl Gene

ENSMUSG00000031994

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 8

Synonyms

METH-2, METH2

MMRRC Submission

039785-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1753 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30942562-30963838 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 30954614 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 486 (I486S)

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: I486S

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000069644
Gene: ENSMUSG00000031994
AA Change: I486S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214688

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

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 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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,973,716 (GRCm38)	F409I	probably benign	Het
Adamts19	A	C	18: 59,007,372 (GRCm38)	I848L	possibly damaging	Het
Adamts5	T	C	16: 85,899,352 (GRCm38)	S306G	probably damaging	Het
Adgrg5	T	C	8: 94,942,052 (GRCm38)	F499L	possibly damaging	Het
Akr1c21	T	A	13: 4,577,135 (GRCm38)	C145*	probably null	Het
Anp32b	T	G	4: 46,460,241 (GRCm38)		probably null	Het
Arhgap31	A	G	16: 38,601,612 (GRCm38)	V1364A	possibly damaging	Het
C2cd6	T	C	1: 59,094,833 (GRCm38)	R10G	possibly damaging	Het
Cacna2d1	A	G	5: 16,302,354 (GRCm38)	E367G	possibly damaging	Het
Ccdc81	C	T	7: 89,866,561 (GRCm38)	E637K	probably benign	Het
Cd2	A	T	3: 101,287,499 (GRCm38)	M91K	possibly damaging	Het
Cdc16	C	A	8: 13,764,688 (GRCm38)	Y157*	probably null	Het
Celsr3	G	T	9: 108,831,857 (GRCm38)	V1301F	probably damaging	Het
Cep164	C	T	9: 45,792,937 (GRCm38)	G961S	probably damaging	Het
Cep290	T	C	10: 100,513,981 (GRCm38)	V630A	probably benign	Het
Chd5	C	T	4: 152,378,815 (GRCm38)	S1451F	probably damaging	Het
Cldn23	A	C	8: 35,825,986 (GRCm38)	L116R	possibly damaging	Het
Cngb1	A	T	8: 95,297,773 (GRCm38)		probably benign	Het
Cpb1	G	T	3: 20,266,241 (GRCm38)	N151K	possibly damaging	Het
Cpn2	A	G	16: 30,260,100 (GRCm38)	F261S	probably damaging	Het
Crlf3	A	C	11: 80,057,872 (GRCm38)	V249G	probably damaging	Het
Csmd1	A	T	8: 16,157,120 (GRCm38)	Y1298*	probably null	Het
Cstf2t	C	A	19: 31,083,685 (GRCm38)	P207Q	possibly damaging	Het
Cym	A	C	3: 107,213,425 (GRCm38)	L288R	possibly damaging	Het
Cyp2j12	C	T	4: 96,121,432 (GRCm38)		probably null	Het
Dlx6	C	T	6: 6,863,665 (GRCm38)	Q96*	probably null	Het
Dnah7b	T	C	1: 46,322,335 (GRCm38)	F3465S	probably damaging	Het
Dnmt3a	A	T	12: 3,873,342 (GRCm38)	M181L	possibly damaging	Het
Duox1	T	A	2: 122,333,429 (GRCm38)	M859K	probably damaging	Het
Eif2b4	A	T	5: 31,192,940 (GRCm38)	S13T	probably benign	Het
Ercc6	T	C	14: 32,576,999 (GRCm38)	V1448A	probably benign	Het
Esp24	A	G	17: 39,040,002 (GRCm38)	E31G	possibly damaging	Het
F2rl2	T	A	13: 95,701,461 (GRCm38)	M338K	probably benign	Het
Fgfbp1	A	C	5: 43,979,923 (GRCm38)	L9R	possibly damaging	Het
Gal3st2b	A	T	1: 93,940,616 (GRCm38)	N188Y	probably damaging	Het
Gpr179	G	C	11: 97,346,578 (GRCm38)	C372W	probably damaging	Het
Grn	T	G	11: 102,433,267 (GRCm38)	C61G	probably damaging	Het
Herc1	T	G	9: 66,469,010 (GRCm38)	C3371G	probably damaging	Het
Herc1	T	C	9: 66,502,084 (GRCm38)		probably null	Het
Hmcn1	C	T	1: 150,586,468 (GRCm38)	G5153D	possibly damaging	Het
Ifi35	A	T	11: 101,456,635 (GRCm38)	R31W	probably damaging	Het
Ifit1bl1	T	A	19: 34,593,860 (GRCm38)	H399L	probably benign	Het
Irx3	G	A	8: 91,800,734 (GRCm38)	P114L	probably damaging	Het
Kat6a	T	A	8: 22,935,797 (GRCm38)	D1119E	probably benign	Het
Kmt2d	G	T	15: 98,843,482 (GRCm38)		probably benign	Het
Kng1	A	T	16: 23,079,119 (GRCm38)	H423L	possibly damaging	Het
Lrp2	T	A	2: 69,496,489 (GRCm38)	Q1746L	possibly damaging	Het
Lrrc29	A	T	8: 105,313,192 (GRCm38)	V517E	probably damaging	Het
Lrrc63	A	T	14: 75,086,344 (GRCm38)		probably null	Het
Mad2l1	T	A	6: 66,539,813 (GRCm38)	V163E	possibly damaging	Het
Map3k19	A	G	1: 127,822,680 (GRCm38)	M978T	probably benign	Het
Mon1a	A	C	9: 107,901,363 (GRCm38)	N262T	probably damaging	Het
Mpo	A	G	11: 87,795,881 (GRCm38)	N85D	probably benign	Het
Mpp4	T	C	1: 59,144,810 (GRCm38)	D244G	probably null	Het
Mstn	A	G	1: 53,066,558 (GRCm38)	Y353C	probably damaging	Het
Mx1	T	A	16: 97,454,158 (GRCm38)	N232Y	probably damaging	Het
Mycs	T	C	X: 5,468,103 (GRCm38)	R308G	probably benign	Het
Myh11	A	T	16: 14,277,870 (GRCm38)	D9E	probably benign	Het
Nfe2l3	A	T	6: 51,433,412 (GRCm38)	Q169L	probably null	Het
Nr5a1	G	T	2: 38,708,419 (GRCm38)	T122N	possibly damaging	Het
Nras	A	G	3: 103,058,979 (GRCm38)	T20A	probably damaging	Het
Obp2b	T	A	2: 25,738,640 (GRCm38)		probably null	Het
Olfr1109	T	C	2: 87,093,227 (GRCm38)	T57A	probably damaging	Het
Olfr1143	T	A	2: 87,802,762 (GRCm38)	F124L	probably benign	Het
Olfr1410	G	A	1: 92,608,400 (GRCm38)	V188M	probably benign	Het
Olfr365	A	G	2: 37,201,427 (GRCm38)	Y62C	probably damaging	Het
Olfr577	T	C	7: 102,973,056 (GRCm38)	N312S	probably benign	Het
Pcdh17	A	T	14: 84,477,654 (GRCm38)	T920S	probably benign	Het
Pcdh9	T	C	14: 93,887,225 (GRCm38)	D503G	probably benign	Het
Pcdhb12	C	T	18: 37,436,671 (GRCm38)	T290I	probably damaging	Het
Pde6b	C	A	5: 108,388,691 (GRCm38)	C84*	probably null	Het
Pex1	A	T	5: 3,630,044 (GRCm38)	N914I	probably damaging	Het
Pign	A	G	1: 105,589,317 (GRCm38)	V528A	possibly damaging	Het
Pkhd1	T	G	1: 20,533,905 (GRCm38)	D1187A	possibly damaging	Het
Ppip5k1	T	C	2: 121,342,631 (GRCm38)	K489E	probably damaging	Het
Prob1	T	C	18: 35,653,252 (GRCm38)	T650A	possibly damaging	Het
Radil	T	C	5: 142,495,336 (GRCm38)	Y572C	probably damaging	Het
Rapgef2	A	G	3: 79,088,791 (GRCm38)	I555T	possibly damaging	Het
Rgs5	G	A	1: 169,682,817 (GRCm38)		probably null	Het
Rnaset2b	G	A	17: 6,981,107 (GRCm38)		probably null	Het
S1pr1	A	G	3: 115,711,938 (GRCm38)	S336P	probably benign	Het
Slc24a5	A	G	2: 125,083,195 (GRCm38)	E252G	possibly damaging	Het
Slc34a2	A	T	5: 53,061,391 (GRCm38)	I184F	probably benign	Het
Slc35a3	A	G	3: 116,677,948 (GRCm38)	V224A	possibly damaging	Het
Slc39a9	A	G	12: 80,677,202 (GRCm38)	H211R	probably damaging	Het
Slu7	A	G	11: 43,439,268 (GRCm38)	N174S	probably benign	Het
Smarcd3	A	T	5: 24,595,822 (GRCm38)	Y131*	probably null	Het
Syne1	A	G	10: 5,367,621 (GRCm38)	M491T	probably benign	Het
Tars	G	A	15: 11,394,243 (GRCm38)	Q103*	probably null	Het
Tmem132d	C	A	5: 127,789,855 (GRCm38)	E660D	probably benign	Het
Ttn	T	C	2: 76,812,972 (GRCm38)	E13201G	probably damaging	Het
Ttn	T	A	2: 76,752,261 (GRCm38)	M22763L	probably benign	Het
Ttn	T	C	2: 76,745,043 (GRCm38)	T16842A	probably damaging	Het
Ubp1	A	T	9: 113,955,969 (GRCm38)	I117L	possibly damaging	Het
Usp24	T	A	4: 106,377,559 (GRCm38)	H954Q	probably benign	Het
Vmn1r174	G	A	7: 23,754,197 (GRCm38)	R96H	probably benign	Het
Vmn2r63	G	A	7: 42,928,245 (GRCm38)	Q290*	probably null	Het
Vnn3	T	C	10: 23,865,820 (GRCm38)	I341T	probably benign	Het
Wbp2nl	A	G	15: 82,305,744 (GRCm38)	T46A	probably damaging	Het
Wdr48	G	T	9: 119,924,247 (GRCm38)	E625*	probably null	Het
Wdr6	C	T	9: 108,575,164 (GRCm38)	V507I	probably damaging	Het
Zp2	A	T	7: 120,138,105 (GRCm38)	W287R	probably benign	Het

Other mutations in Adamts8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Adamts8	APN	9	30,953,500 (GRCm38)	missense	probably damaging	1.00
IGL02049:Adamts8	APN	9	30,951,354 (GRCm38)	missense	probably damaging	0.96
IGL02304:Adamts8	APN	9	30,956,656 (GRCm38)	missense	possibly damaging	0.55
IGL02385:Adamts8	APN	9	30,961,730 (GRCm38)	missense	probably benign	0.10
IGL02536:Adamts8	APN	9	30,962,072 (GRCm38)	missense	probably benign	0.05
IGL03347:Adamts8	APN	9	30,959,238 (GRCm38)	missense	possibly damaging	0.75
R0633:Adamts8	UTSW	9	30,943,511 (GRCm38)	missense	probably damaging	1.00
R1066:Adamts8	UTSW	9	30,956,541 (GRCm38)	missense	probably damaging	1.00
R1464:Adamts8	UTSW	9	30,951,377 (GRCm38)	missense	probably benign
R1464:Adamts8	UTSW	9	30,951,377 (GRCm38)	missense	probably benign
R1560:Adamts8	UTSW	9	30,956,667 (GRCm38)	missense	probably damaging	1.00
R1592:Adamts8	UTSW	9	30,943,176 (GRCm38)	missense	probably damaging	0.99
R1932:Adamts8	UTSW	9	30,956,512 (GRCm38)	missense	probably benign
R2087:Adamts8	UTSW	9	30,962,112 (GRCm38)	missense	probably damaging	1.00
R2118:Adamts8	UTSW	9	30,943,063 (GRCm38)	missense	probably damaging	1.00
R3789:Adamts8	UTSW	9	30,959,292 (GRCm38)	missense	probably damaging	1.00
R4165:Adamts8	UTSW	9	30,951,388 (GRCm38)	missense	probably benign	0.01
R4166:Adamts8	UTSW	9	30,951,388 (GRCm38)	missense	probably benign	0.01
R4193:Adamts8	UTSW	9	30,959,308 (GRCm38)	missense	probably damaging	1.00
R4425:Adamts8	UTSW	9	30,956,656 (GRCm38)	missense	possibly damaging	0.55
R5155:Adamts8	UTSW	9	30,954,548 (GRCm38)	missense	probably benign	0.33
R5433:Adamts8	UTSW	9	30,961,716 (GRCm38)	missense	probably benign	0.01
R5544:Adamts8	UTSW	9	30,952,703 (GRCm38)	missense	probably damaging	1.00
R5590:Adamts8	UTSW	9	30,951,336 (GRCm38)	missense	probably damaging	0.97
R5640:Adamts8	UTSW	9	30,956,500 (GRCm38)	missense	probably benign	0.00
R5800:Adamts8	UTSW	9	30,954,482 (GRCm38)	missense	probably damaging	1.00
R5909:Adamts8	UTSW	9	30,961,928 (GRCm38)	missense	probably benign	0.00
R6821:Adamts8	UTSW	9	30,956,626 (GRCm38)	missense	probably benign	0.08
R6967:Adamts8	UTSW	9	30,954,491 (GRCm38)	missense	probably benign	0.04
R7336:Adamts8	UTSW	9	30,962,067 (GRCm38)	missense	probably benign	0.00
R7538:Adamts8	UTSW	9	30,953,470 (GRCm38)	missense	probably damaging	1.00
R7540:Adamts8	UTSW	9	30,959,064 (GRCm38)	missense	probably damaging	0.96
R7942:Adamts8	UTSW	9	30,958,913 (GRCm38)	critical splice acceptor site	probably null
R7942:Adamts8	UTSW	9	30,953,482 (GRCm38)	missense	probably damaging	1.00
R8085:Adamts8	UTSW	9	30,943,315 (GRCm38)	missense	probably benign	0.01
R8795:Adamts8	UTSW	9	30,943,188 (GRCm38)	missense	probably benign	0.00
R8877:Adamts8	UTSW	9	30,951,392 (GRCm38)	missense	probably damaging	1.00
R8900:Adamts8	UTSW	9	30,954,634 (GRCm38)	missense	probably benign	0.01
R9141:Adamts8	UTSW	9	30,953,425 (GRCm38)	missense	possibly damaging	0.72
R9224:Adamts8	UTSW	9	30,942,892 (GRCm38)	missense	probably benign	0.18
R9326:Adamts8	UTSW	9	30,943,590 (GRCm38)	missense	probably benign
R9331:Adamts8	UTSW	9	30,951,474 (GRCm38)	missense	probably damaging	1.00
R9426:Adamts8	UTSW	9	30,953,425 (GRCm38)	missense	possibly damaging	0.72
R9796:Adamts8	UTSW	9	30,951,273 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCAAAGCCTTGCCCTTGTCCTAAC -3'
(R):5'- AGGTCCTGACTCTCATGTGTAGAGC -3'

Sequencing Primer
(F):5'- GCCCTTGTCCTAACTCATCTG -3'
(R):5'- ATGTGTAGAGCCTTTGTCTCC -3'

Posted On

2014-05-23