Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01431:Adamts7'

84127

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts7

Ensembl Gene

ENSMUSG00000032363

Gene Name

ADAM metallopeptidase with thrombospondin type 1 motif 7

Synonyms

ADAM-TS7

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL01431

Quality Score

Status

Chromosome

Chromosomal Location

90041420-90082155 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90089838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 897 (I897T)

Ref Sequence

ENSEMBL: ENSMUSP00000045413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041767] [ENSMUST00000167122]

AlphaFold

Q68SA9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041767
AA Change: I897T

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045413
Gene: ENSMUSG00000037410
AA Change: I897T

Domain	Start	End	E-Value	Type
PH	35	141	2.66e-9	SMART
low complexity region	324	334	N/A	INTRINSIC
low complexity region	343	356	N/A	INTRINSIC
Blast:TBC	358	601	2e-25	BLAST
TBC	661	881	3.75e-60	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167122
AA Change: I1629V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000129292
Gene: ENSMUSG00000032363
AA Change: I1629V

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Pep_M12B_propep	33	174	1.4e-28	PFAM
low complexity region	203	220	N/A	INTRINSIC
Pfam:Reprolysin_5	224	411	7.2e-17	PFAM
Pfam:Reprolysin_4	224	425	3.6e-9	PFAM
Pfam:Reprolysin	226	437	2.9e-30	PFAM
Pfam:Reprolysin_2	244	427	2.2e-12	PFAM
Pfam:Reprolysin_3	248	383	3.7e-13	PFAM
Blast:ACR	442	513	5e-15	BLAST
TSP1	526	578	4.9e-13	SMART
Pfam:ADAM_spacer1	683	794	1.1e-36	PFAM
TSP1	807	863	1.45e-6	SMART
TSP1	866	908	2.41e-1	SMART
TSP1	929	978	1.45e-6	SMART
low complexity region	1011	1025	N/A	INTRINSIC
low complexity region	1211	1233	N/A	INTRINSIC
TSP1	1385	1435	2.4e-2	SMART
TSP1	1436	1493	1.8e-2	SMART
TSP1	1495	1542	4.82e-2	SMART
TSP1	1543	1600	1.39e-3	SMART

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, zinc-dependent enzyme that degrades cartilage oligomeric matrix protein. The deficiency of the encoded protein decreases atherosclerosis in genetically hyperlipidemic mice and in response to vascular injury. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygotes for a null allele show increased lung function parameters, reduced endothelial cell migration and proliferation, increased re-endothelialization and ameliorated neointima formation after carotid artery injury, and increased oval cell activation and biliary fibrosis after liver injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqp2	G	A	15: 99,477,301 (GRCm39)	V90M	possibly damaging	Het
Atf6	T	C	1: 170,680,571 (GRCm39)		probably benign	Het
Cdh3	T	C	8: 107,274,301 (GRCm39)	Y607H	probably damaging	Het
Cer1	T	A	4: 82,801,068 (GRCm39)	E198D	probably benign	Het
Dscam	A	G	16: 96,453,278 (GRCm39)		probably null	Het
Ecel1	C	T	1: 87,079,226 (GRCm39)	R484H	probably damaging	Het
Entpd7	C	A	19: 43,718,278 (GRCm39)	H575Q	probably benign	Het
F11r	T	C	1: 171,290,477 (GRCm39)	V279A	probably damaging	Het
Gm17093	T	A	14: 44,759,122 (GRCm39)		probably benign	Het
Got1	T	A	19: 43,491,488 (GRCm39)	K321*	probably null	Het
Gpn1	T	C	5: 31,664,882 (GRCm39)	V302A	probably benign	Het
Hivep1	G	T	13: 42,311,493 (GRCm39)	K1244N	probably damaging	Het
Idh3b	T	C	2: 130,123,817 (GRCm39)	T116A	possibly damaging	Het
Itgb4	C	A	11: 115,897,283 (GRCm39)		probably benign	Het
Mybl1	G	T	1: 9,742,872 (GRCm39)	L579I	probably damaging	Het
Myh14	T	A	7: 44,263,782 (GRCm39)	T1694S	probably null	Het
Mylk3	T	C	8: 86,063,030 (GRCm39)	D537G	probably damaging	Het
Myo1d	A	C	11: 80,565,665 (GRCm39)	F387V	probably damaging	Het
Nek9	T	C	12: 85,361,361 (GRCm39)	Y448C	probably benign	Het
Or8k40	A	T	2: 86,584,508 (GRCm39)	H191Q	probably benign	Het
Paxbp1	T	C	16: 90,832,804 (GRCm39)		probably benign	Het
Potefam1	A	T	2: 111,055,740 (GRCm39)		probably benign	Het
Retreg2	T	A	1: 75,121,749 (GRCm39)		probably null	Het
Ripply3	G	A	16: 94,129,402 (GRCm39)	C16Y	possibly damaging	Het
Robo3	G	A	9: 37,330,407 (GRCm39)		probably benign	Het
Rrm1	C	A	7: 102,106,759 (GRCm39)		probably benign	Het
Rsad2	T	A	12: 26,498,666 (GRCm39)	R269S	probably benign	Het
Sbp	A	T	17: 24,164,322 (GRCm39)		probably benign	Het
Schip1	A	T	3: 68,525,110 (GRCm39)	Q162L	probably damaging	Het
Senp1	T	C	15: 97,980,144 (GRCm39)	Y67C	probably damaging	Het
Slc25a25	C	T	2: 32,309,103 (GRCm39)	R233K	probably damaging	Het
Smoc1	C	A	12: 81,199,525 (GRCm39)	S220*	probably null	Het
Stab1	C	A	14: 30,870,952 (GRCm39)	R1299I	probably benign	Het
Stk17b	A	G	1: 53,805,074 (GRCm39)		probably benign	Het
Tmc7	T	G	7: 118,151,985 (GRCm39)	D312A	probably damaging	Het
Vmn1r79	T	C	7: 11,910,327 (GRCm39)	S70P	possibly damaging	Het
Zfc3h1	C	A	10: 115,259,128 (GRCm39)	T1591K	possibly damaging	Het

Other mutations in Adamts7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Adamts7	APN	9	90,076,302 (GRCm39)	missense	possibly damaging	0.71
IGL00673:Adamts7	APN	9	90,075,714 (GRCm39)	missense	possibly damaging	0.78
IGL00902:Adamts7	APN	9	90,070,847 (GRCm39)	critical splice donor site	probably null
IGL01303:Adamts7	APN	9	90,053,787 (GRCm39)	missense	possibly damaging	0.46
IGL01333:Adamts7	APN	9	90,069,032 (GRCm39)	missense	probably damaging	1.00
IGL01595:Adamts7	APN	9	90,075,359 (GRCm39)	missense	probably benign	0.02
IGL02728:Adamts7	APN	9	90,073,880 (GRCm39)	splice site	probably benign
IGL02860:Adamts7	APN	9	90,073,915 (GRCm39)	missense	probably benign
IGL03237:Adamts7	APN	9	90,070,717 (GRCm39)	missense	probably damaging	1.00
PIT4495001:Adamts7	UTSW	9	90,056,675 (GRCm39)	missense	probably damaging	1.00
R0044:Adamts7	UTSW	9	90,053,641 (GRCm39)	missense	possibly damaging	0.58
R0078:Adamts7	UTSW	9	90,061,464 (GRCm39)	missense	probably damaging	1.00
R0107:Adamts7	UTSW	9	90,062,773 (GRCm39)	missense	possibly damaging	0.82
R0122:Adamts7	UTSW	9	90,061,474 (GRCm39)	missense	probably damaging	1.00
R0166:Adamts7	UTSW	9	90,075,745 (GRCm39)	missense	probably benign	0.00
R0517:Adamts7	UTSW	9	90,081,911 (GRCm39)	missense	probably benign	0.01
R1442:Adamts7	UTSW	9	90,070,823 (GRCm39)	missense	probably damaging	0.99
R1468:Adamts7	UTSW	9	90,070,851 (GRCm39)	splice site	probably benign
R1554:Adamts7	UTSW	9	90,055,703 (GRCm39)	missense	probably damaging	1.00
R1612:Adamts7	UTSW	9	90,070,750 (GRCm39)	missense	possibly damaging	0.86
R1652:Adamts7	UTSW	9	90,071,697 (GRCm39)	missense	probably damaging	1.00
R2007:Adamts7	UTSW	9	90,059,909 (GRCm39)	missense	probably damaging	1.00
R2091:Adamts7	UTSW	9	90,070,493 (GRCm39)	critical splice donor site	probably null
R2202:Adamts7	UTSW	9	90,062,729 (GRCm39)	missense	probably damaging	1.00
R2204:Adamts7	UTSW	9	90,062,729 (GRCm39)	missense	probably damaging	1.00
R2205:Adamts7	UTSW	9	90,062,729 (GRCm39)	missense	probably damaging	1.00
R2305:Adamts7	UTSW	9	90,062,764 (GRCm39)	missense	probably benign	0.39
R2409:Adamts7	UTSW	9	90,062,740 (GRCm39)	missense	probably damaging	1.00
R4157:Adamts7	UTSW	9	90,070,414 (GRCm39)	missense	probably damaging	1.00
R4210:Adamts7	UTSW	9	90,076,063 (GRCm39)	missense	possibly damaging	0.95
R4368:Adamts7	UTSW	9	90,077,904 (GRCm39)	critical splice donor site	probably null
R4533:Adamts7	UTSW	9	90,062,761 (GRCm39)	missense	probably damaging	1.00
R4608:Adamts7	UTSW	9	90,056,593 (GRCm39)	missense	probably damaging	1.00
R4623:Adamts7	UTSW	9	90,068,515 (GRCm39)	missense	probably benign	0.17
R4661:Adamts7	UTSW	9	90,075,383 (GRCm39)	missense	probably benign	0.02
R4820:Adamts7	UTSW	9	90,071,739 (GRCm39)	missense	possibly damaging	0.62
R4942:Adamts7	UTSW	9	90,045,364 (GRCm39)	missense	probably benign
R4961:Adamts7	UTSW	9	90,067,793 (GRCm39)	missense	probably damaging	1.00
R5064:Adamts7	UTSW	9	90,077,883 (GRCm39)	missense	probably damaging	1.00
R5763:Adamts7	UTSW	9	90,070,462 (GRCm39)	missense	probably damaging	1.00
R5921:Adamts7	UTSW	9	90,070,747 (GRCm39)	missense	probably benign	0.20
R6027:Adamts7	UTSW	9	90,073,078 (GRCm39)	missense	probably damaging	1.00
R6182:Adamts7	UTSW	9	90,074,489 (GRCm39)	missense	probably benign	0.01
R6306:Adamts7	UTSW	9	90,060,331 (GRCm39)	critical splice donor site	probably null
R6404:Adamts7	UTSW	9	90,062,509 (GRCm39)	splice site	probably null
R6488:Adamts7	UTSW	9	90,053,535 (GRCm39)	missense	probably benign	0.00
R6649:Adamts7	UTSW	9	90,073,990 (GRCm39)	missense	probably damaging	1.00
R6658:Adamts7	UTSW	9	90,077,353 (GRCm39)	missense	probably damaging	0.99
R6874:Adamts7	UTSW	9	90,070,784 (GRCm39)	missense	probably damaging	1.00
R6947:Adamts7	UTSW	9	90,073,857 (GRCm39)	splice site	probably null
R7110:Adamts7	UTSW	9	90,076,017 (GRCm39)	missense	possibly damaging	0.92
R7224:Adamts7	UTSW	9	90,067,868 (GRCm39)	missense	probably damaging	1.00
R7239:Adamts7	UTSW	9	90,068,610 (GRCm39)	splice site	probably null
R7519:Adamts7	UTSW	9	90,079,132 (GRCm39)	missense	probably benign	0.22
R7608:Adamts7	UTSW	9	90,055,826 (GRCm39)	missense	possibly damaging	0.68
R7635:Adamts7	UTSW	9	90,077,298 (GRCm39)	missense	probably damaging	1.00
R7699:Adamts7	UTSW	9	90,070,792 (GRCm39)	missense	probably damaging	1.00
R8519:Adamts7	UTSW	9	90,075,610 (GRCm39)	nonsense	probably null
R8680:Adamts7	UTSW	9	90,077,321 (GRCm39)	missense	probably damaging	1.00
R8743:Adamts7	UTSW	9	90,077,296 (GRCm39)	missense	probably damaging	0.99
R8784:Adamts7	UTSW	9	90,075,918 (GRCm39)	missense	probably null	0.00
R8794:Adamts7	UTSW	9	90,076,239 (GRCm39)	nonsense	probably null
R8851:Adamts7	UTSW	9	90,075,163 (GRCm39)	missense	probably benign	0.00
R9025:Adamts7	UTSW	9	90,067,848 (GRCm39)	nonsense	probably null
R9038:Adamts7	UTSW	9	90,056,692 (GRCm39)	missense
R9101:Adamts7	UTSW	9	90,071,794 (GRCm39)	critical splice donor site	probably null
R9256:Adamts7	UTSW	9	90,060,218 (GRCm39)	missense	probably damaging	1.00
R9261:Adamts7	UTSW	9	90,075,397 (GRCm39)	missense	probably benign	0.01
R9385:Adamts7	UTSW	9	90,077,258 (GRCm39)	nonsense	probably null
R9614:Adamts7	UTSW	9	90,077,251 (GRCm39)	missense	probably damaging	1.00
X0028:Adamts7	UTSW	9	90,060,270 (GRCm39)	missense	probably benign	0.30

Posted On

2013-11-11