Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01532:Adamts17'

89806

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts17

Ensembl Gene

ENSMUSG00000058145

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 17

Synonyms

AU023434

Accession Numbers

Genbank: NM_001033877; MGI: 3588195

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL01532

Quality Score

Status

Chromosome

Chromosomal Location

66839735-67153171 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 66908601 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 264 (N264K)

Ref Sequence

ENSEMBL: ENSMUSP00000103102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098382] [ENSMUST00000107478]

Predicted Effect

probably damaging
Transcript: ENSMUST00000098382
AA Change: N264K

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

SMART Domains

Protein: ENSMUSP00000095984
Gene: ENSMUSG00000058145
AA Change: N264K

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Pep_M12B_propep	35	179	2.9e-25	PFAM
Pfam:Reprolysin_5	228	422	3.1e-15	PFAM
Pfam:Reprolysin_2	248	440	6.1e-13	PFAM
Pfam:Reprolysin_3	252	398	2.2e-12	PFAM
Pfam:Reprolysin_4	328	446	7.1e-10	PFAM
Pfam:Reprolysin	334	450	2e-18	PFAM
Blast:ACR	454	533	3e-12	BLAST
TSP1	544	596	2.2e-15	SMART
Pfam:ADAM_spacer1	698	808	6.4e-30	PFAM
TSP1	829	887	1.81e-1	SMART
TSP1	889	942	1.15e-4	SMART
TSP1	949	993	4.05e-5	SMART
TSP1	1000	1054	2.91e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107478
AA Change: N264K

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

SMART Domains

Protein: ENSMUSP00000103102
Gene: ENSMUSG00000058145
AA Change: N264K

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Pep_M12B_propep	34	180	3.1e-23	PFAM
Pfam:Reprolysin_5	228	424	3.2e-15	PFAM
Pfam:Reprolysin_2	248	440	5.9e-11	PFAM
Pfam:Reprolysin_3	252	398	6e-12	PFAM
Pfam:Reprolysin_4	328	446	6.8e-10	PFAM
Pfam:Reprolysin	334	450	4.3e-21	PFAM
Blast:ACR	454	533	3e-12	BLAST
TSP1	544	596	2.2e-15	SMART
Pfam:ADAM_spacer1	700	781	2.2e-16	PFAM
TSP1	802	860	1.81e-1	SMART
TSP1	862	915	1.15e-4	SMART
TSP1	922	966	4.05e-5	SMART
TSP1	973	1027	2.91e-6	SMART
Pfam:PLAC	1046	1080	1.1e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138009

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148538

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156396

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]

Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	C	T	5: 81,694,569	T260I	probably damaging	Het
Ambra1	G	T	2: 91,885,632	K769N	probably damaging	Het
Arel1	A	G	12: 84,934,162	V357A	possibly damaging	Het
Atp11b	T	A	3: 35,849,502	C76*	probably null	Het
AW112010	C	A	19: 11,048,069		noncoding transcript	Het
Bfar	A	T	16: 13,687,387		probably benign	Het
Ccdc70	T	G	8: 21,973,283	L30V	probably damaging	Het
Chrm5	C	T	2: 112,479,232	R513Q	probably benign	Het
Crem	G	A	18: 3,276,732	T7I	probably benign	Het
Cyp4f39	C	T	17: 32,470,954		probably benign	Het
Dlg5	T	C	14: 24,158,592	T849A	probably benign	Het
Dock8	G	T	19: 25,169,441	G1428V	probably damaging	Het
Eomes	T	C	9: 118,482,249	I380T	probably damaging	Het
Fam13a	T	C	6: 58,940,295	D532G	probably damaging	Het
Fopnl	A	G	16: 14,304,511	S130P	probably benign	Het
Gm10061	G	T	16: 89,151,302	*55L	probably null	Het
Gm27438	T	G	2: 87,252,925		probably benign	Het
Gpalpp1	T	C	14: 76,102,502	K124E	probably benign	Het
Hgs	T	A	11: 120,477,509		probably null	Het
Hpn	T	A	7: 31,103,513	M121L	possibly damaging	Het
Il1r1	T	C	1: 40,294,928		probably null	Het
Jag2	A	T	12: 112,914,363	C583S	probably damaging	Het
Katnal2	T	C	18: 77,012,000	H146R	probably benign	Het
Ldah	T	C	12: 8,220,596		probably benign	Het
Lvrn	T	A	18: 46,900,484	Y921N	probably damaging	Het
Muc5b	A	G	7: 141,870,006	Y4572C	possibly damaging	Het
Myo16	A	G	8: 10,400,551	S518G	probably benign	Het
Ncf1	T	C	5: 134,226,593	N148S	probably benign	Het
Nes	T	G	3: 87,978,347	D1260E	possibly damaging	Het
Nup210	C	A	6: 91,085,999		probably benign	Het
Olfr548-ps1	T	C	7: 102,542,656	L240P	probably damaging	Het
Rnf31	C	A	14: 55,602,623	Q968K	probably damaging	Het
Ros1	A	G	10: 52,090,938		probably benign	Het
Ryk	T	C	9: 102,897,266	Y400H	probably benign	Het
Slc4a5	T	A	6: 83,273,040		probably null	Het
Sptssb	A	G	3: 69,820,869		probably benign	Het
Sstr5	T	C	17: 25,491,331	D308G	probably damaging	Het
Taf2	A	G	15: 55,049,486	W493R	possibly damaging	Het
Vmn2r28	T	A	7: 5,486,464	I459L	probably benign	Het
Vti1b	A	C	12: 79,165,138	L1W	probably null	Het
Wdr1	T	C	5: 38,535,187	Y125C	probably damaging	Het

Other mutations in Adamts17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Adamts17	APN	7	66968902	missense	probably damaging	1.00
IGL00950:Adamts17	APN	7	67120912	missense	possibly damaging	0.69
IGL01591:Adamts17	APN	7	67004396	missense	probably damaging	1.00
IGL01602:Adamts17	APN	7	66888411	missense	probably benign	0.29
IGL01640:Adamts17	APN	7	67029680	missense	probably damaging	0.98
IGL01686:Adamts17	APN	7	66840289	missense	probably benign	0.06
IGL01747:Adamts17	APN	7	67052011	missense	probably damaging	1.00
IGL02081:Adamts17	APN	7	67062110	missense	probably damaging	1.00
IGL02152:Adamts17	APN	7	67125000	missense	probably benign	0.01
IGL02264:Adamts17	APN	7	67047459	splice site	probably null
IGL02457:Adamts17	APN	7	67027814	missense	probably damaging	0.99
IGL02519:Adamts17	APN	7	67124973	missense	possibly damaging	0.82
IGL02530:Adamts17	APN	7	66909376	missense	probably damaging	1.00
IGL02649:Adamts17	APN	7	66849878	splice site	probably benign
IGL02711:Adamts17	APN	7	67052040	splice site	probably benign
IGL03006:Adamts17	APN	7	67078347	missense	possibly damaging	0.53
IGL03203:Adamts17	APN	7	67062108	missense	probably damaging	1.00
IGL03343:Adamts17	APN	7	67075316	missense	probably damaging	1.00
BB007:Adamts17	UTSW	7	66849799	missense	probably damaging	0.96
BB017:Adamts17	UTSW	7	66849799	missense	probably damaging	0.96
E2594:Adamts17	UTSW	7	67004350	missense	probably damaging	1.00
R0380:Adamts17	UTSW	7	67150044	missense	probably benign	0.00
R0416:Adamts17	UTSW	7	66915898	splice site	probably null
R0635:Adamts17	UTSW	7	66908605	missense	probably damaging	1.00
R1083:Adamts17	UTSW	7	67147574	missense	probably damaging	1.00
R1476:Adamts17	UTSW	7	67075343	missense	probably damaging	1.00
R1728:Adamts17	UTSW	7	67149956	nonsense	probably null
R1729:Adamts17	UTSW	7	67149956	nonsense	probably null
R1763:Adamts17	UTSW	7	67147715	missense	probably damaging	1.00
R1784:Adamts17	UTSW	7	67149956	nonsense	probably null
R1905:Adamts17	UTSW	7	67047472	nonsense	probably null
R1938:Adamts17	UTSW	7	67125072	missense	probably damaging	1.00
R3106:Adamts17	UTSW	7	67125072	missense	probably damaging	1.00
R3796:Adamts17	UTSW	7	66839914	splice site	probably null
R3849:Adamts17	UTSW	7	66840467	missense	possibly damaging	0.92
R3850:Adamts17	UTSW	7	66840467	missense	possibly damaging	0.92
R3945:Adamts17	UTSW	7	67120939	missense	probably benign
R4519:Adamts17	UTSW	7	66840566	missense	probably damaging	0.99
R4554:Adamts17	UTSW	7	67027893	missense	probably damaging	1.00
R4555:Adamts17	UTSW	7	67027893	missense	probably damaging	1.00
R4556:Adamts17	UTSW	7	67027893	missense	probably damaging	1.00
R4557:Adamts17	UTSW	7	67027893	missense	probably damaging	1.00
R4700:Adamts17	UTSW	7	67041888	missense	probably damaging	1.00
R4752:Adamts17	UTSW	7	67004470	missense	probably damaging	0.96
R5019:Adamts17	UTSW	7	67062070	nonsense	probably null
R5438:Adamts17	UTSW	7	66888417	missense	probably benign	0.30
R5444:Adamts17	UTSW	7	67041899	missense	probably benign	0.02
R5673:Adamts17	UTSW	7	67041807	missense	probably damaging	1.00
R6326:Adamts17	UTSW	7	67120888	missense	probably benign	0.05
R6964:Adamts17	UTSW	7	66909400	missense	possibly damaging	0.93
R6964:Adamts17	UTSW	7	67004353	missense	probably benign	0.00
R7129:Adamts17	UTSW	7	67121010	missense	probably damaging	1.00
R7317:Adamts17	UTSW	7	66840556	nonsense	probably null
R7355:Adamts17	UTSW	7	67075304	missense
R7386:Adamts17	UTSW	7	66968849	missense	probably benign	0.25
R7407:Adamts17	UTSW	7	67047556	nonsense	probably null
R7432:Adamts17	UTSW	7	67051917	missense
R7782:Adamts17	UTSW	7	67125054	missense	probably damaging	1.00
R7817:Adamts17	UTSW	7	66909476	missense	probably damaging	0.99
R7930:Adamts17	UTSW	7	66849799	missense	probably damaging	0.96
R7993:Adamts17	UTSW	7	66849864	missense	possibly damaging	0.90
R8178:Adamts17	UTSW	7	66849716	missense	possibly damaging	0.46
X0022:Adamts17	UTSW	7	67041901	missense	probably benign	0.44

Posted On

2013-12-03