Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03241:Adamts15'

414280

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts15

Ensembl Gene

ENSMUSG00000033453

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 15

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03241

Quality Score

Status

Chromosome

Chromosomal Location

30810451-30833748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30815781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 692 (P692S)

Ref Sequence

ENSEMBL: ENSMUSP00000067022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065112]

AlphaFold

P59384

Predicted Effect

probably damaging
Transcript: ENSMUST00000065112
AA Change: P692S

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

SMART Domains

Protein: ENSMUSP00000067022
Gene: ENSMUSG00000033453
AA Change: P692S

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Pep_M12B_propep	24	157	8.7e-27	PFAM
Pfam:Reprolysin_4	216	422	8.2e-7	PFAM
Pfam:Reprolysin_5	217	404	7.2e-13	PFAM
Pfam:Reprolysin	218	427	3.7e-20	PFAM
Pfam:Reprolysin_3	240	372	6.1e-10	PFAM
Blast:ACR	429	507	1e-25	BLAST
TSP1	519	571	7.85e-12	SMART
Pfam:ADAM_spacer1	683	801	7.1e-36	PFAM
TSP1	842	895	3e-8	SMART
TSP1	896	949	4.21e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217070

Coding Region Coverage

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. The encoded preproprotein undergoes proteolytic processing to generate an active versicanase enzyme. This gene is located adjacent to a related ADAMTS gene (Adamts8) on chromosome 9. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 87,236,436 (GRCm39)	E1126V	possibly damaging	Het
Acnat1	A	G	4: 49,447,702 (GRCm39)	V275A	probably benign	Het
Aqp7	A	T	4: 41,045,270 (GRCm39)		probably benign	Het
Arhgap26	A	T	18: 39,362,970 (GRCm39)	I413F	probably damaging	Het
Cdc25a	T	C	9: 109,713,267 (GRCm39)		probably null	Het
Cdh18	C	T	15: 23,227,019 (GRCm39)	T160I	probably benign	Het
Cfap206	T	C	4: 34,711,553 (GRCm39)	Y448C	probably damaging	Het
Clec4a4	T	C	6: 122,967,332 (GRCm39)	S3P	probably damaging	Het
Dhx38	A	T	8: 110,289,288 (GRCm39)	H37Q	possibly damaging	Het
F7	A	T	8: 13,078,779 (GRCm39)	E70V	probably damaging	Het
Nbeal1	A	T	1: 60,274,027 (GRCm39)	Q418H	possibly damaging	Het
Nbeal1	G	A	1: 60,274,028 (GRCm39)	E419K	probably benign	Het
Nebl	A	G	2: 17,397,975 (GRCm39)		probably null	Het
Or4k15b	T	A	14: 50,272,525 (GRCm39)	M112L	possibly damaging	Het
Pfkm	T	C	15: 98,021,061 (GRCm39)	V293A	probably benign	Het
Slc36a3	A	G	11: 55,015,934 (GRCm39)	S407P	possibly damaging	Het
Slc5a1	T	C	5: 33,290,749 (GRCm39)	V111A	probably benign	Het
St6galnac5	G	T	3: 152,552,223 (GRCm39)	Q115K	probably benign	Het
Tex56	G	T	13: 35,128,313 (GRCm39)	A177S	probably damaging	Het
Timmdc1	G	A	16: 38,331,071 (GRCm39)		probably benign	Het
Trim34b	T	C	7: 103,983,820 (GRCm39)		probably benign	Het
Trim75	A	T	8: 65,435,358 (GRCm39)	I364N	probably damaging	Het
Vmn1r27	T	A	6: 58,192,126 (GRCm39)	N293Y	probably benign	Het
Vmn2r88	A	G	14: 51,655,830 (GRCm39)	T689A	probably benign	Het
Vmn2r97	T	C	17: 19,148,438 (GRCm39)	V111A	probably benign	Het
Zfp114	C	T	7: 23,880,437 (GRCm39)	T261I	probably benign	Het
Zfp516	A	G	18: 83,005,645 (GRCm39)	T850A	probably benign	Het

Other mutations in Adamts15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00930:Adamts15	APN	9	30,813,349 (GRCm39)	missense	probably damaging	1.00
IGL01325:Adamts15	APN	9	30,832,984 (GRCm39)	missense	possibly damaging	0.86
IGL01506:Adamts15	APN	9	30,833,430 (GRCm39)	missense	probably benign	0.08
IGL01897:Adamts15	APN	9	30,813,448 (GRCm39)	missense	probably damaging	1.00
IGL02137:Adamts15	APN	9	30,821,956 (GRCm39)	missense	probably damaging	1.00
IGL02876:Adamts15	APN	9	30,815,818 (GRCm39)	missense	probably damaging	0.98
IGL02997:Adamts15	APN	9	30,817,353 (GRCm39)	splice site	probably benign
IGL03094:Adamts15	APN	9	30,815,768 (GRCm39)	splice site	probably benign
IGL03146:Adamts15	APN	9	30,832,863 (GRCm39)	missense	probably damaging	0.99
Awareness	UTSW	9	30,822,404 (GRCm39)	critical splice donor site	probably null
heightened	UTSW	9	30,816,066 (GRCm39)	missense	probably damaging	1.00
Pugsley	UTSW	9	30,817,454 (GRCm39)	missense	probably damaging	1.00
sparticus	UTSW	9	30,821,898 (GRCm39)	missense	probably benign	0.40
R0118:Adamts15	UTSW	9	30,823,040 (GRCm39)	missense	probably damaging	1.00
R0635:Adamts15	UTSW	9	30,816,066 (GRCm39)	missense	probably damaging	1.00
R0827:Adamts15	UTSW	9	30,832,776 (GRCm39)	missense	probably damaging	1.00
R0946:Adamts15	UTSW	9	30,813,493 (GRCm39)	missense	probably damaging	1.00
R1608:Adamts15	UTSW	9	30,813,775 (GRCm39)	missense	probably damaging	0.99
R1806:Adamts15	UTSW	9	30,816,111 (GRCm39)	missense	probably damaging	1.00
R1954:Adamts15	UTSW	9	30,822,004 (GRCm39)	missense	probably benign
R1967:Adamts15	UTSW	9	30,832,605 (GRCm39)	nonsense	probably null
R2009:Adamts15	UTSW	9	30,833,433 (GRCm39)	missense	probably benign	0.17
R2129:Adamts15	UTSW	9	30,815,799 (GRCm39)	missense	probably benign	0.05
R2329:Adamts15	UTSW	9	30,813,781 (GRCm39)	missense	probably damaging	1.00
R2991:Adamts15	UTSW	9	30,832,690 (GRCm39)	missense	probably benign
R3970:Adamts15	UTSW	9	30,821,898 (GRCm39)	missense	probably benign	0.40
R4212:Adamts15	UTSW	9	30,817,470 (GRCm39)	missense	probably damaging	0.99
R4326:Adamts15	UTSW	9	30,815,814 (GRCm39)	missense	probably benign
R4329:Adamts15	UTSW	9	30,815,814 (GRCm39)	missense	probably benign
R4594:Adamts15	UTSW	9	30,832,743 (GRCm39)	missense	probably damaging	0.99
R5110:Adamts15	UTSW	9	30,832,740 (GRCm39)	missense	probably benign	0.01
R5120:Adamts15	UTSW	9	30,832,872 (GRCm39)	missense	probably damaging	1.00
R5697:Adamts15	UTSW	9	30,823,090 (GRCm39)	missense	probably damaging	1.00
R5901:Adamts15	UTSW	9	30,813,786 (GRCm39)	missense	probably damaging	1.00
R6011:Adamts15	UTSW	9	30,814,082 (GRCm39)	missense	probably damaging	0.98
R6020:Adamts15	UTSW	9	30,813,358 (GRCm39)	missense	probably benign	0.03
R6651:Adamts15	UTSW	9	30,833,448 (GRCm39)	missense	probably damaging	0.98
R6665:Adamts15	UTSW	9	30,815,775 (GRCm39)	critical splice donor site	probably null
R7021:Adamts15	UTSW	9	30,832,776 (GRCm39)	missense	probably damaging	1.00
R7231:Adamts15	UTSW	9	30,817,454 (GRCm39)	missense	probably damaging	1.00
R7290:Adamts15	UTSW	9	30,813,906 (GRCm39)	missense	probably benign	0.05
R7390:Adamts15	UTSW	9	30,822,404 (GRCm39)	critical splice donor site	probably null
R7798:Adamts15	UTSW	9	30,815,939 (GRCm39)	missense	probably damaging	1.00
R7833:Adamts15	UTSW	9	30,833,401 (GRCm39)	missense	probably benign
R7908:Adamts15	UTSW	9	30,813,522 (GRCm39)	missense	probably benign
R8175:Adamts15	UTSW	9	30,815,952 (GRCm39)	missense	probably damaging	1.00
R8177:Adamts15	UTSW	9	30,833,322 (GRCm39)	missense	probably damaging	1.00
R8347:Adamts15	UTSW	9	30,813,846 (GRCm39)	missense	probably benign	0.07
R8348:Adamts15	UTSW	9	30,813,846 (GRCm39)	missense	probably benign	0.07
R8374:Adamts15	UTSW	9	30,814,002 (GRCm39)	missense	probably benign	0.21
R8473:Adamts15	UTSW	9	30,816,085 (GRCm39)	missense	probably damaging	1.00
R8680:Adamts15	UTSW	9	30,823,055 (GRCm39)	missense	possibly damaging	0.57
R9113:Adamts15	UTSW	9	30,822,498 (GRCm39)	missense	probably damaging	1.00
R9336:Adamts15	UTSW	9	30,816,085 (GRCm39)	missense	probably damaging	1.00
R9381:Adamts15	UTSW	9	30,813,816 (GRCm39)	missense	probably damaging	0.99
X0063:Adamts15	UTSW	9	30,833,526 (GRCm39)	missense	possibly damaging	0.96
X0067:Adamts15	UTSW	9	30,832,878 (GRCm39)	missense	probably damaging	1.00
Z1176:Adamts15	UTSW	9	30,821,996 (GRCm39)	missense	probably damaging	1.00
Z1177:Adamts15	UTSW	9	30,813,787 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02