Mutagenetix > Incidental Mutation

Incidental Mutation 'R6665:Adamts15'

526937

Institutional Source

Beutler Lab

Gene Symbol

Adamts15

Ensembl Gene

ENSMUSG00000033453

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 15

Synonyms

MMRRC Submission

044785-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6665 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30810451-30833748 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 30815775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000067022 (fasta)

Gene Model

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

AlphaFold

P59384

Predicted Effect

probably null
Transcript: ENSMUST00000065112

SMART Domains

Protein: ENSMUSP00000067022
Gene: ENSMUSG00000033453

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

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

100% (34/34)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	T	G	13: 70,927,689 (GRCm39)	K517Q	probably damaging	Het
Atp9b	A	C	18: 80,960,950 (GRCm39)	V87G	probably benign	Het
Avil	A	G	10: 126,856,394 (GRCm39)	K808E	probably damaging	Het
Bin2	T	C	15: 100,554,676 (GRCm39)	E49G	probably damaging	Het
Ccdc146	T	C	5: 21,508,092 (GRCm39)	Y652C	probably damaging	Het
Cd6	T	C	19: 10,768,367 (GRCm39)	N541D	probably benign	Het
Col28a1	A	G	6: 8,062,277 (GRCm39)	V671A	probably benign	Het
Dock6	C	T	9: 21,751,208 (GRCm39)	C355Y	probably damaging	Het
Dsc2	A	G	18: 20,183,205 (GRCm39)	F71S	probably damaging	Het
Dusp8	G	A	7: 141,643,842 (GRCm39)	P24S	probably damaging	Het
Dysf	A	G	6: 84,107,098 (GRCm39)	Y1151C	probably benign	Het
Fhip2b	A	T	14: 70,823,078 (GRCm39)	L659Q	probably damaging	Het
Frem2	T	C	3: 53,562,077 (GRCm39)	Y810C	probably damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Hexb	T	C	13: 97,315,893 (GRCm39)	N380D	probably benign	Het
Ice1	T	C	13: 70,751,592 (GRCm39)	E1498G	possibly damaging	Het
Lrif1	T	A	3: 106,642,659 (GRCm39)		probably null	Het
Myo9a	G	T	9: 59,779,155 (GRCm39)	G1637V	probably benign	Het
Myod1	A	T	7: 46,026,281 (GRCm39)	H62L	probably damaging	Het
Myoz3	A	C	18: 60,709,495 (GRCm39)	L222R	probably damaging	Het
Naca	T	A	10: 127,884,227 (GRCm39)	N2180K	probably damaging	Het
Or6c76	T	C	10: 129,612,116 (GRCm39)	F111S	probably damaging	Het
Pik3cb	A	G	9: 98,955,702 (GRCm39)	V405A	probably benign	Het
Prkdc	T	C	16: 15,603,914 (GRCm39)		probably null	Het
Rab32	T	C	10: 10,433,846 (GRCm39)		probably benign	Het
Serpinb10	A	C	1: 107,474,597 (GRCm39)	N253T	possibly damaging	Het
Slc13a5	C	T	11: 72,151,186 (GRCm39)	V131I	probably damaging	Het
Slc25a40	A	G	5: 8,502,788 (GRCm39)	N290S	probably benign	Het
Slc6a6	T	C	6: 91,703,020 (GRCm39)	V131A	probably benign	Het
Spef2	A	T	15: 9,600,604 (GRCm39)		probably null	Het
Stxbp2	A	G	8: 3,691,998 (GRCm39)	M547V	probably benign	Het
Tmem247	A	T	17: 87,225,998 (GRCm39)	Q146L	probably benign	Het
Vmn2r67	T	C	7: 84,785,900 (GRCm39)	I702V	probably benign	Het
Zmynd15	T	C	11: 70,355,636 (GRCm39)	S436P	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTTGAGACTTGTCTTCATGCATTC -3'
(R):5'- AGGATCCTCTCACTGAGCTG -3'

Sequencing Primer
(F):5'- AGACTTGTCTTCATGCATTCATCTTG -3'
(R):5'- CTGTAGGTGGTGGATGGTACGC -3'

Posted On

2018-07-23