Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01506:Adamts15'

89066

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 #

IGL01506

Quality Score

Status

Chromosome

Chromosomal Location

30810451-30833748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30833430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 35 (I35N)

Ref Sequence

ENSEMBL: ENSMUSP00000067022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065112] [ENSMUST00000216215]

AlphaFold

P59384

Predicted Effect

probably benign
Transcript: ENSMUST00000065112
AA Change: I35N

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000067022
Gene: ENSMUSG00000033453
AA Change: I35N

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

probably benign
Transcript: ENSMUST00000216215

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,247,447 (GRCm39)	V2398A	probably benign	Het
Abhd2	T	A	7: 78,975,200 (GRCm39)	I130N	possibly damaging	Het
Car8	T	A	4: 8,169,761 (GRCm39)	E249V	probably damaging	Het
Dpp8	A	G	9: 64,970,699 (GRCm39)		probably benign	Het
Gstm2	T	G	3: 107,892,559 (GRCm39)		probably null	Het
Kcnmb4	A	G	10: 116,309,251 (GRCm39)	V59A	probably benign	Het
Krt76	T	C	15: 101,800,835 (GRCm39)	I154V	probably damaging	Het
Lama1	G	A	17: 68,092,065 (GRCm39)	R1646H	probably benign	Het
Larp1b	C	A	3: 40,987,875 (GRCm39)	Y32*	probably null	Het
Magea4	G	A	X: 71,266,376 (GRCm39)	D252N	probably damaging	Het
Mat1a	C	A	14: 40,831,395 (GRCm39)	A41E	probably damaging	Het
Neb	A	T	2: 52,137,202 (GRCm39)	V3190E	probably damaging	Het
Nop53	G	A	7: 15,674,082 (GRCm39)	P249L	probably damaging	Het
Or8b44	A	G	9: 38,410,171 (GRCm39)	I69V	probably benign	Het
Osbpl7	T	C	11: 96,943,126 (GRCm39)	L126P	probably benign	Het
Plxna4	A	T	6: 32,493,470 (GRCm39)	L382Q	probably damaging	Het
Poli	G	A	18: 70,642,802 (GRCm39)	T403I	probably benign	Het
Slc44a2	T	C	9: 21,249,246 (GRCm39)	Y9H	probably benign	Het
Snx4	T	C	16: 33,084,624 (GRCm39)		probably benign	Het
Son	A	T	16: 91,454,174 (GRCm39)	I974L	possibly damaging	Het
Stil	T	C	4: 114,881,309 (GRCm39)	S618P	probably benign	Het
Syndig1	C	T	2: 149,741,677 (GRCm39)	R88C	probably damaging	Het
Trpm1	T	A	7: 63,893,329 (GRCm39)	F944L	probably damaging	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
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
IGL03241:Adamts15	APN	9	30,815,781 (GRCm39)	missense	probably damaging	1.00
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

2013-12-03