Mutagenetix > Incidental Mutation

Incidental Mutation 'R3789:Adamts8'

272439

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

041604-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R3789 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30942562-30963838 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30959292 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 688 (S688P)

Ref Sequence

ENSEMBL: ENSMUSP00000069644 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000068135
AA Change: S688P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069644
Gene: ENSMUSG00000031994
AA Change: S688P

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.8%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230104L09Rik	C	A	2: 148,847,958	E92*	probably null	Het
Abca13	T	A	11: 9,510,668	I4226N	probably damaging	Het
Abhd16a	A	G	17: 35,101,587	N411S	probably damaging	Het
Acvrl1	C	T	15: 101,137,469	T292M	probably damaging	Het
Adprhl2	A	T	4: 126,316,751	I312N	probably damaging	Het
Bclaf3	A	G	X: 159,566,496	H619R	probably benign	Het
Clca4a	C	A	3: 144,974,956	G20V	probably damaging	Het
Col12a1	C	A	9: 79,639,723	V2276L	possibly damaging	Het
Drosha	T	A	15: 12,912,537	Y1080*	probably null	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Ebf2	T	A	14: 67,239,493		probably null	Het
Emc8	T	C	8: 120,658,130	T195A	probably benign	Het
Fam60a	A	G	6: 148,926,119	S134P	possibly damaging	Het
Frs3	G	A	17: 47,699,696		probably null	Het
Fsip2	T	C	2: 82,982,714	S640P	probably damaging	Het
Hdhd2	G	A	18: 76,955,187		probably null	Het
Hivep3	T	C	4: 120,098,416	S1310P	probably damaging	Het
Hltf	C	T	3: 20,069,047	P200S	probably damaging	Het
Lnpk	A	T	2: 74,522,263	S358R	probably benign	Het
Lrp1	T	C	10: 127,571,969	D1817G	possibly damaging	Het
Lrpprc	T	C	17: 84,771,528	I253V	probably benign	Het
Map2	A	G	1: 66,416,863	T1512A	probably damaging	Het
Mcm9	G	A	10: 53,616,017	R403W	probably damaging	Het
Mms22l	A	G	4: 24,517,115	D222G	possibly damaging	Het
Mug1	G	A	6: 121,884,628	V1350I	probably benign	Het
Olfr663	T	A	7: 104,703,949	D127E	probably damaging	Het
Pclo	A	G	5: 14,680,450		probably benign	Het
Plekha7	A	C	7: 116,175,734	I175R	probably damaging	Het
Plxnb1	T	A	9: 109,109,287	V1303D	possibly damaging	Het
Pou2f1	G	C	1: 165,894,969	P349R	probably damaging	Het
Prmt8	A	T	6: 127,711,147	I236N	probably damaging	Het
Rexo2	A	G	9: 48,473,062	I139T	probably damaging	Het
Rsbn1l	A	C	5: 20,896,108	S811R	probably benign	Het
Sec24b	T	C	3: 130,020,627	D345G	probably benign	Het
Serpina1b	A	G	12: 103,729,272	S337P	probably damaging	Het
Snx33	T	C	9: 56,918,560	E539G	probably benign	Het
Sorcs3	A	G	19: 48,398,711	T212A	possibly damaging	Het
Spa17	T	G	9: 37,611,845	K49Q	possibly damaging	Het
St3gal6	C	T	16: 58,484,773	E109K	probably benign	Het
Stat4	A	G	1: 52,011,796	N5D	probably benign	Het
Tmem232	C	T	17: 65,382,525	D532N	probably benign	Het
Tmem232	C	A	17: 65,382,633	D496Y	possibly damaging	Het
Tmem81	A	G	1: 132,508,071	N205S	probably benign	Het
Tomm20l	C	T	12: 71,111,742	A58V	possibly damaging	Het
Ttn	A	G	2: 76,974,208	V240A	probably benign	Het
Vmn2r23	A	T	6: 123,741,389	N567I	probably damaging	Het

Other mutations in Adamts8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Adamts8	APN	9	30953500	missense	probably damaging	1.00
IGL02049:Adamts8	APN	9	30951354	missense	probably damaging	0.96
IGL02304:Adamts8	APN	9	30956656	missense	possibly damaging	0.55
IGL02385:Adamts8	APN	9	30961730	missense	probably benign	0.10
IGL02536:Adamts8	APN	9	30962072	missense	probably benign	0.05
IGL03347:Adamts8	APN	9	30959238	missense	possibly damaging	0.75
R0633:Adamts8	UTSW	9	30943511	missense	probably damaging	1.00
R1066:Adamts8	UTSW	9	30956541	missense	probably damaging	1.00
R1464:Adamts8	UTSW	9	30951377	missense	probably benign
R1464:Adamts8	UTSW	9	30951377	missense	probably benign
R1560:Adamts8	UTSW	9	30956667	missense	probably damaging	1.00
R1592:Adamts8	UTSW	9	30943176	missense	probably damaging	0.99
R1753:Adamts8	UTSW	9	30954614	missense	probably benign	0.04
R1932:Adamts8	UTSW	9	30956512	missense	probably benign
R2087:Adamts8	UTSW	9	30962112	missense	probably damaging	1.00
R2118:Adamts8	UTSW	9	30943063	missense	probably damaging	1.00
R4165:Adamts8	UTSW	9	30951388	missense	probably benign	0.01
R4166:Adamts8	UTSW	9	30951388	missense	probably benign	0.01
R4193:Adamts8	UTSW	9	30959308	missense	probably damaging	1.00
R4425:Adamts8	UTSW	9	30956656	missense	possibly damaging	0.55
R5155:Adamts8	UTSW	9	30954548	missense	probably benign	0.33
R5433:Adamts8	UTSW	9	30961716	missense	probably benign	0.01
R5544:Adamts8	UTSW	9	30952703	missense	probably damaging	1.00
R5590:Adamts8	UTSW	9	30951336	missense	probably damaging	0.97
R5640:Adamts8	UTSW	9	30956500	missense	probably benign	0.00
R5800:Adamts8	UTSW	9	30954482	missense	probably damaging	1.00
R5909:Adamts8	UTSW	9	30961928	missense	probably benign	0.00
R6821:Adamts8	UTSW	9	30956626	missense	probably benign	0.08
R6967:Adamts8	UTSW	9	30954491	missense	probably benign	0.04
R7336:Adamts8	UTSW	9	30962067	missense	probably benign	0.00
R7538:Adamts8	UTSW	9	30953470	missense	probably damaging	1.00
R7540:Adamts8	UTSW	9	30959064	missense	probably damaging	0.96
R7942:Adamts8	UTSW	9	30953482	missense	probably damaging	1.00
R7942:Adamts8	UTSW	9	30958913	critical splice acceptor site	probably null
R8085:Adamts8	UTSW	9	30943315	missense	probably benign	0.01
R8795:Adamts8	UTSW	9	30943188	missense	probably benign	0.00
R8877:Adamts8	UTSW	9	30951392	missense	probably damaging	1.00
R8900:Adamts8	UTSW	9	30954634	missense	probably benign	0.01
R9141:Adamts8	UTSW	9	30953425	missense	possibly damaging	0.72
R9224:Adamts8	UTSW	9	30942892	missense	probably benign	0.18
R9326:Adamts8	UTSW	9	30943590	missense	probably benign
R9331:Adamts8	UTSW	9	30951474	missense	probably damaging	1.00
R9426:Adamts8	UTSW	9	30953425	missense	possibly damaging	0.72
R9796:Adamts8	UTSW	9	30951273	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCGAGGACAGACACGTGTTG -3'
(R):5'- GTACAGAAATGGAGTCTTGAAGTC -3'

Sequencing Primer
(F):5'- AGGACAGACACGTGTTGCCTTC -3'
(R):5'- TCTACACAACTATTAACTAGCAGCTG -3'

Posted On

2015-03-25