Incidental Mutation 'IGL00902:Adamts7'
ID 28126
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 # IGL00902
Quality Score
Status
Chromosome 9
Chromosomal Location 90041420-90082155 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 90070847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113059] [ENSMUST00000113060] [ENSMUST00000134996] [ENSMUST00000147250] [ENSMUST00000167122]
AlphaFold Q68SA9
Predicted Effect probably null
Transcript: ENSMUST00000113059
SMART Domains Protein: ENSMUSP00000108682
Gene: ENSMUSG00000032363

DomainStartEndE-ValueType
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 probably null
Transcript: ENSMUST00000113060
SMART Domains Protein: ENSMUSP00000108683
Gene: ENSMUSG00000032363

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000134996
SMART Domains Protein: ENSMUSP00000119744
Gene: ENSMUSG00000032363

DomainStartEndE-ValueType
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 probably null
Transcript: ENSMUST00000147250
SMART Domains Protein: ENSMUSP00000115972
Gene: ENSMUSG00000032363

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000167122
SMART Domains Protein: ENSMUSP00000129292
Gene: ENSMUSG00000032363

DomainStartEndE-ValueType
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A G 14: 78,733,278 (GRCm39) S1876P probably benign Het
Bltp1 G A 3: 37,095,494 (GRCm39) G1001D probably damaging Het
Capn10 A G 1: 92,870,281 (GRCm39) I256V probably benign Het
Catsperg2 T A 7: 29,400,568 (GRCm39) H262L possibly damaging Het
Col22a1 C A 15: 71,836,508 (GRCm39) G509V probably damaging Het
Dab2ip T C 2: 35,607,124 (GRCm39) F523S probably damaging Het
Dbnl G T 11: 5,748,105 (GRCm39) A313S probably benign Het
Ddo T C 10: 40,523,550 (GRCm39) V180A probably damaging Het
Enox1 A G 14: 77,819,844 (GRCm39) M200V possibly damaging Het
Fabp6 G A 11: 43,489,543 (GRCm39) R33C probably damaging Het
Gm9104 T C 17: 45,776,940 (GRCm39) probably benign Het
Gspt1 C T 16: 11,050,443 (GRCm39) V303I probably damaging Het
Igf2r C T 17: 12,919,245 (GRCm39) C1469Y probably damaging Het
Igflr1 T C 7: 30,266,700 (GRCm39) S183P possibly damaging Het
Itga6 T C 2: 71,679,738 (GRCm39) V1001A probably benign Het
Itih1 G A 14: 30,654,439 (GRCm39) probably benign Het
Itprid2 G A 2: 79,490,822 (GRCm39) R980Q probably damaging Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Lrp5 T C 19: 3,650,774 (GRCm39) N1220S probably damaging Het
Marchf6 A G 15: 31,485,124 (GRCm39) Y434H probably damaging Het
Mbd1 A G 18: 74,408,310 (GRCm39) Y211C possibly damaging Het
Mpeg1 C A 19: 12,439,133 (GRCm39) A197D probably damaging Het
Mroh2b T A 15: 4,944,704 (GRCm39) L435Q probably damaging Het
Mss51 A C 14: 20,536,235 (GRCm39) M160R probably damaging Het
Ndufs7 T G 10: 80,091,839 (GRCm39) Y190* probably null Het
Or6c38 T A 10: 128,929,265 (GRCm39) I193L probably benign Het
Or9g4b T C 2: 85,616,461 (GRCm39) M202T probably benign Het
Pcdh17 A G 14: 84,684,289 (GRCm39) E252G probably damaging Het
Ric1 T C 19: 29,544,631 (GRCm39) V151A probably benign Het
Sgo2a A G 1: 58,055,258 (GRCm39) T481A probably benign Het
Slc5a8 A G 10: 88,755,323 (GRCm39) T477A probably benign Het
Smg5 G A 3: 88,260,392 (GRCm39) V661I probably benign Het
Snx19 A T 9: 30,340,028 (GRCm39) I389F possibly damaging Het
Spem1 A T 11: 69,712,643 (GRCm39) I64N probably damaging Het
Thada A T 17: 84,755,404 (GRCm39) M262K probably damaging Het
Uox A G 3: 146,316,161 (GRCm39) D32G possibly damaging Het
Usp42 A T 5: 143,705,629 (GRCm39) probably benign Het
Usp43 G A 11: 67,782,245 (GRCm39) P391L probably benign Het
Vmn2r56 T C 7: 12,449,426 (GRCm39) S271G probably benign Het
Wdr64 T A 1: 175,556,391 (GRCm39) C213S probably damaging Het
Zfp26 A T 9: 20,350,844 (GRCm39) S194T possibly damaging Het
Other mutations in Adamts7
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2013-04-17