Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00547:Adamts7'

13283

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: 0.081) question?

Stock #

IGL00547

Quality Score

Status

Chromosome

Chromosomal Location

90041420-90082155 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 90076302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1345 (Q1345K)

Ref Sequence

ENSEMBL: ENSMUSP00000108683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113059] [ENSMUST00000113060] [ENSMUST00000134996] [ENSMUST00000147250] [ENSMUST00000167122]

AlphaFold

Q68SA9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113059
AA Change: Q1387K

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108682
Gene: ENSMUSG00000032363
AA Change: Q1387K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Pep_M12B_propep	34	174	1.1e-36	PFAM
low complexity region	203	220	N/A	INTRINSIC
Pfam:Reprolysin_5	224	411	1.3e-16	PFAM
Pfam:Reprolysin_4	224	425	8.5e-9	PFAM
Pfam:Reprolysin	226	437	2.2e-27	PFAM
Pfam:Reprolysin_2	244	427	2.9e-12	PFAM
Pfam:Reprolysin_3	248	383	5.2e-13	PFAM
Blast:ACR	442	513	5e-15	BLAST
TSP1	526	578	4.9e-13	SMART
Pfam:ADAM_spacer1	683	794	2.2e-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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113060
AA Change: Q1345K

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108683
Gene: ENSMUSG00000032363
AA Change: Q1345K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Pep_M12B_propep	33	174	3.4e-28	PFAM
low complexity region	203	220	N/A	INTRINSIC
Pfam:Reprolysin_5	224	411	1.6e-16	PFAM
Pfam:Reprolysin_4	224	425	8.2e-9	PFAM
Pfam:Reprolysin	226	437	6.4e-30	PFAM
Pfam:Reprolysin_2	244	427	4.6e-12	PFAM
Pfam:Reprolysin_3	248	383	8.1e-13	PFAM
Blast:ACR	442	513	5e-15	BLAST
TSP1	526	578	4.9e-13	SMART
Pfam:ADAM_spacer1	683	794	1.5e-36	PFAM
TSP1	807	863	1.45e-6	SMART
TSP1	866	908	2.41e-1	SMART
low complexity region	969	983	N/A	INTRINSIC
low complexity region	1169	1191	N/A	INTRINSIC
TSP1	1343	1393	2.4e-2	SMART
TSP1	1394	1451	1.8e-2	SMART
TSP1	1453	1500	4.82e-2	SMART
TSP1	1501	1558	1.39e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124441

Predicted Effect

probably benign
Transcript: ENSMUST00000134996

SMART Domains

Protein: ENSMUSP00000119744
Gene: ENSMUSG00000032363

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Pep_M12B_propep	33	174	2.4e-29	PFAM
low complexity region	203	220	N/A	INTRINSIC
Pfam:Reprolysin_5	224	412	1e-17	PFAM
Pfam:Reprolysin_4	224	426	5e-10	PFAM
Pfam:Reprolysin	226	437	3.7e-31	PFAM
Pfam:Reprolysin_2	244	427	3.2e-13	PFAM
Pfam:Reprolysin_3	248	383	6.3e-14	PFAM
Blast:ACR	439	505	7e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138227

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144943

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147250
AA Change: Q1286K

PolyPhen 2 Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115972
Gene: ENSMUSG00000032363
AA Change: Q1286K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Pep_M12B_propep	33	174	2.7e-26	PFAM
low complexity region	203	220	N/A	INTRINSIC
Pfam:Reprolysin_5	224	411	1.4e-14	PFAM
Pfam:Reprolysin_4	224	425	7e-7	PFAM
Pfam:Reprolysin	226	437	4.9e-28	PFAM
Pfam:Reprolysin_2	244	427	5e-10	PFAM
Pfam:Reprolysin_3	248	383	6.5e-11	PFAM
ACR	439	515	1.7e-5	SMART
TSP1	526	578	2.3e-15	SMART
Pfam:ADAM_spacer1	683	794	3.5e-34	PFAM
TSP1	807	863	6.9e-9	SMART
TSP1	866	908	1.2e-3	SMART
low complexity region	969	983	N/A	INTRINSIC
low complexity region	1169	1191	N/A	INTRINSIC
TSP1	1284	1334	1.2e-4	SMART
TSP1	1335	1392	8.7e-5	SMART
TSP1	1394	1441	2.3e-4	SMART
TSP1	1442	1499	6.5e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167122
AA Change: Q1387K

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129292
Gene: ENSMUSG00000032363
AA Change: Q1387K

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap40	T	C	2: 158,380,546 (GRCm39)		probably benign	Het
Atp8b4	A	G	2: 126,200,817 (GRCm39)	C784R	probably damaging	Het
Bicral	T	C	17: 47,136,278 (GRCm39)	I311V	probably benign	Het
Cep290	G	A	10: 100,346,570 (GRCm39)	R551H	probably damaging	Het
Chd9	A	T	8: 91,732,426 (GRCm39)	M842L	probably damaging	Het
Cntn6	A	G	6: 104,627,361 (GRCm39)	N65D	probably damaging	Het
Dnah8	C	T	17: 31,034,677 (GRCm39)	Q4199*	probably null	Het
Ercc3	T	C	18: 32,397,598 (GRCm39)		probably benign	Het
Gm454	T	C	5: 138,205,389 (GRCm39)		noncoding transcript	Het
Gm7073	A	T	X: 59,481,748 (GRCm39)	D204E	probably benign	Het
Myo5a	A	G	9: 75,048,735 (GRCm39)	H286R	probably benign	Het
Nelfb	C	A	2: 25,094,300 (GRCm39)	M354I	possibly damaging	Het
Oas3	C	T	5: 120,915,507 (GRCm39)		probably benign	Het
Phldb2	A	G	16: 45,645,898 (GRCm39)	S228P	probably benign	Het
Pls3	A	T	X: 74,837,874 (GRCm39)	I429N	probably damaging	Het
Ptprq	C	T	10: 107,554,402 (GRCm39)	V108M	probably damaging	Het
Rlf	A	G	4: 121,027,883 (GRCm39)	S138P	possibly damaging	Het
Rpn2	T	C	2: 157,156,833 (GRCm39)	Y479H	probably damaging	Het
Sdr16c5	A	T	4: 4,012,320 (GRCm39)		probably benign	Het
Slco6c1	A	T	1: 97,015,674 (GRCm39)	N372K	probably benign	Het
Stag2	T	C	X: 41,335,892 (GRCm39)	I563T	probably benign	Het
Vrk1	T	C	12: 106,024,840 (GRCm39)	S239P	probably damaging	Het

Other mutations in Adamts7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL01431:Adamts7	APN	9	90,089,838 (GRCm39)	missense	possibly damaging	0.89
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

2012-12-06