Incidental Mutation 'R4868:Adamts4'
ID 376289
Institutional Source Beutler Lab
Gene Symbol Adamts4
Ensembl Gene ENSMUSG00000006403
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 4
Synonyms aggrecanase-1, ADAM-TS4
MMRRC Submission 042478-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4868 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 171077990-171088206 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 171080000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111314] [ENSMUST00000111315] [ENSMUST00000191871] [ENSMUST00000194778] [ENSMUST00000219033]
AlphaFold Q8BNJ2
Predicted Effect probably benign
Transcript: ENSMUST00000111314
SMART Domains Protein: ENSMUSP00000106946
Gene: ENSMUSG00000006403

DomainStartEndE-ValueType
low complexity region 8 21 N/A INTRINSIC
Pfam:Reprolysin_5 27 214 1.8e-12 PFAM
Pfam:Reprolysin 29 239 1e-19 PFAM
Pfam:Reprolysin_4 33 235 1.2e-10 PFAM
Pfam:Reprolysin_3 50 183 5.4e-12 PFAM
Pfam:Reprolysin_2 50 229 1.9e-9 PFAM
Blast:ACR 240 319 4e-24 BLAST
TSP1 334 386 3.52e-14 SMART
Pfam:ADAM_spacer1 497 614 5.2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111315
SMART Domains Protein: ENSMUSP00000106947
Gene: ENSMUSG00000006403

DomainStartEndE-ValueType
signal peptide 1 49 N/A INTRINSIC
Pfam:Pep_M12B_propep 54 177 5.6e-17 PFAM
Pfam:Reprolysin_5 212 399 6.5e-12 PFAM
Pfam:Reprolysin 214 424 4.6e-19 PFAM
Pfam:Reprolysin_4 219 420 4.6e-10 PFAM
Pfam:Reprolysin_3 235 368 1.9e-11 PFAM
Pfam:Reprolysin_2 236 414 7.2e-9 PFAM
Blast:ACR 425 504 4e-24 BLAST
TSP1 519 571 3.52e-14 SMART
Pfam:ADAM_spacer1 682 799 1.8e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000191871
SMART Domains Protein: ENSMUSP00000141942
Gene: ENSMUSG00000013593

DomainStartEndE-ValueType
Pfam:Complex1_49kDa 114 146 5.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194778
SMART Domains Protein: ENSMUSP00000141370
Gene: ENSMUSG00000013593

DomainStartEndE-ValueType
Pfam:Complex1_49kDa 166 231 3.4e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219033
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 99% (91/92)
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 aggrecanase enzyme that degrades cartilage. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutant mice do not exhibit any morphological abnormalities. However, they do display impaired coordination and an increased susceptibility to pharmacologically induced seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 106,436,729 (GRCm39) *299W probably null Het
4933412E24Rik G A 15: 59,887,817 (GRCm39) L208F possibly damaging Het
Abca8b G A 11: 109,865,338 (GRCm39) A373V probably benign Het
Actn3 A T 19: 4,914,482 (GRCm39) W549R probably benign Het
Adcy4 T C 14: 56,011,179 (GRCm39) I615V probably benign Het
Akap1 A G 11: 88,735,379 (GRCm39) S428P possibly damaging Het
Akap13 A T 7: 75,393,252 (GRCm39) R2476W probably damaging Het
Alx3 A G 3: 107,507,943 (GRCm39) S151G possibly damaging Het
Aoah T A 13: 21,099,151 (GRCm39) Y243* probably null Het
Asap1 A G 15: 63,966,030 (GRCm39) V1025A probably benign Het
Atp8b1 A T 18: 64,684,937 (GRCm39) I728N probably damaging Het
Baz2b C A 2: 59,755,226 (GRCm39) V1001L possibly damaging Het
Bmpr2 T A 1: 59,909,615 (GRCm39) S1030T probably benign Het
Cacna2d3 A T 14: 28,678,743 (GRCm39) probably null Het
Casp3 A T 8: 47,087,314 (GRCm39) N87I probably benign Het
Ccdc171 T A 4: 83,612,569 (GRCm39) L995Q probably damaging Het
Ccdc80 T A 16: 44,924,776 (GRCm39) Y637N probably damaging Het
Ccr4 A G 9: 114,321,901 (GRCm39) F55L probably benign Het
Cmah T A 13: 24,648,247 (GRCm39) V494E probably damaging Het
Cnot6l A G 5: 96,230,882 (GRCm39) Y362H probably damaging Het
Coq6 T C 12: 84,417,726 (GRCm39) V222A probably damaging Het
Ctdspl2 C A 2: 121,823,879 (GRCm39) T240N possibly damaging Het
D430041D05Rik T C 2: 104,085,754 (GRCm39) T248A possibly damaging Het
Dctn6 A T 8: 34,559,230 (GRCm39) probably benign Het
Dhx34 T C 7: 15,933,727 (GRCm39) D955G probably benign Het
Dnaaf5 A G 5: 139,155,941 (GRCm39) M541V probably benign Het
Dnah17 A T 11: 117,999,038 (GRCm39) S912T probably benign Het
Dnah2 A T 11: 69,354,474 (GRCm39) V2248E probably damaging Het
Dysf T C 6: 84,156,675 (GRCm39) W1502R probably damaging Het
Dzip1 A T 14: 119,114,626 (GRCm39) V843E probably damaging Het
Esp23 G T 17: 39,384,915 (GRCm39) T27K probably benign Het
Esp3 A T 17: 40,944,420 (GRCm39) M21L possibly damaging Het
Fam43b T A 4: 138,123,108 (GRCm39) T71S probably benign Het
Fpgs G A 2: 32,582,673 (GRCm39) R63C probably damaging Het
H2-M11 G T 17: 36,859,811 (GRCm39) W268L probably damaging Het
Inpp5b T C 4: 124,645,203 (GRCm39) S210P probably damaging Het
Itsn1 T A 16: 91,582,205 (GRCm39) S51T probably damaging Het
Kctd2 G A 11: 115,320,205 (GRCm39) V246I probably damaging Het
Krt75 C T 15: 101,476,556 (GRCm39) G403E probably damaging Het
Lamp3 T A 16: 19,520,040 (GRCm39) T48S probably benign Het
Lyzl4 C A 9: 121,412,075 (GRCm39) V114L probably damaging Het
Maml3 C A 3: 52,011,345 (GRCm39) E74* probably null Het
Map2k7 G A 8: 4,297,751 (GRCm39) probably benign Het
Mapk8ip3 A G 17: 25,120,389 (GRCm39) V883A probably benign Het
Mbtps1 C T 8: 120,235,667 (GRCm39) V1004I probably benign Het
Metap1 G T 3: 138,188,850 (GRCm39) H48Q probably damaging Het
Mical2 T A 7: 111,917,831 (GRCm39) V396E probably damaging Het
Mks1 T A 11: 87,744,549 (GRCm39) probably benign Het
Ndst1 T C 18: 60,828,548 (GRCm39) T669A probably benign Het
Obox3 T C 7: 15,361,235 (GRCm39) K10R probably damaging Het
Opn3 T C 1: 175,491,127 (GRCm39) Y302C probably damaging Het
Or4f62 T A 2: 111,986,916 (GRCm39) S207T probably damaging Het
Or6b6 C T 7: 106,570,974 (GRCm39) M192I probably benign Het
Or9g8 T G 2: 85,606,970 (GRCm39) V14G possibly damaging Het
Pdzph1 A T 17: 59,281,751 (GRCm39) V177D probably benign Het
Pex5l T A 3: 33,006,639 (GRCm39) I577F probably damaging Het
Pmpcb T A 5: 21,953,851 (GRCm39) Y366* probably null Het
Prr14l A T 5: 32,987,281 (GRCm39) M738K probably benign Het
Prx T C 7: 27,217,004 (GRCm39) S641P probably benign Het
Ptchd3 A G 11: 121,721,883 (GRCm39) Y252C possibly damaging Het
Reg3a A G 6: 78,358,883 (GRCm39) E27G probably damaging Het
Ripor2 A G 13: 24,878,124 (GRCm39) T300A possibly damaging Het
Sdf4 T A 4: 156,093,642 (GRCm39) S259T probably damaging Het
Sike1 A G 3: 102,904,730 (GRCm39) probably null Het
Sis T G 3: 72,850,881 (GRCm39) I606L probably benign Het
Slc30a9 T C 5: 67,482,026 (GRCm39) I94T probably benign Het
Slc5a4a T C 10: 76,014,065 (GRCm39) I424T probably damaging Het
Spx C T 6: 142,362,116 (GRCm39) R72* probably null Het
St7 C A 6: 17,819,265 (GRCm39) N56K probably damaging Het
Tcte2 C A 17: 13,948,270 (GRCm39) G3V probably damaging Het
Tent5b A G 4: 133,213,393 (GRCm39) probably null Het
Tgfb3 T C 12: 86,108,955 (GRCm39) D258G probably benign Het
Timeless G T 10: 128,083,230 (GRCm39) G659V probably benign Het
Tnn T C 1: 159,958,443 (GRCm39) R467G possibly damaging Het
Tor1b T C 2: 30,846,589 (GRCm39) probably null Het
Trank1 T A 9: 111,194,709 (GRCm39) L911Q probably damaging Het
Ttll2 C T 17: 7,618,998 (GRCm39) V310I probably benign Het
Ttyh3 A T 5: 140,615,221 (GRCm39) I389N probably damaging Het
Tut4 T C 4: 108,406,417 (GRCm39) probably benign Het
Ube3b T C 5: 114,536,488 (GRCm39) V216A probably benign Het
Vezf1 T A 11: 87,965,520 (GRCm39) V254E probably damaging Het
Vmn1r122 T C 7: 20,867,227 (GRCm39) E276G probably benign Het
Vmn1r167 T A 7: 23,204,161 (GRCm39) N285I probably benign Het
Vmn2r45 T A 7: 8,484,480 (GRCm39) I442F probably benign Het
Vwa8 C A 14: 79,420,522 (GRCm39) A1741E probably damaging Het
Wdr20 T A 12: 110,704,668 (GRCm39) V69E probably damaging Het
Xkr4 T G 1: 3,287,074 (GRCm39) Q372P probably damaging Het
Other mutations in Adamts4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01472:Adamts4 APN 1 171,080,419 (GRCm39) missense probably damaging 1.00
IGL02496:Adamts4 APN 1 171,078,512 (GRCm39) missense probably benign 0.00
IGL02510:Adamts4 APN 1 171,078,959 (GRCm39) missense probably benign 0.08
IGL02695:Adamts4 APN 1 171,080,203 (GRCm39) missense probably damaging 1.00
IGL02952:Adamts4 APN 1 171,078,917 (GRCm39) missense probably damaging 1.00
IGL03010:Adamts4 APN 1 171,078,985 (GRCm39) missense probably damaging 1.00
IGL03304:Adamts4 APN 1 171,080,438 (GRCm39) splice site probably benign
PIT4305001:Adamts4 UTSW 1 171,086,610 (GRCm39) missense probably benign
R0331:Adamts4 UTSW 1 171,078,541 (GRCm39) missense probably benign 0.00
R1302:Adamts4 UTSW 1 171,080,752 (GRCm39) missense probably damaging 1.00
R1460:Adamts4 UTSW 1 171,084,009 (GRCm39) splice site probably benign
R1502:Adamts4 UTSW 1 171,086,559 (GRCm39) missense probably damaging 1.00
R1544:Adamts4 UTSW 1 171,080,311 (GRCm39) missense probably benign 0.09
R1815:Adamts4 UTSW 1 171,083,905 (GRCm39) missense probably damaging 0.99
R1982:Adamts4 UTSW 1 171,086,503 (GRCm39) missense probably benign 0.00
R1986:Adamts4 UTSW 1 171,084,244 (GRCm39) missense possibly damaging 0.94
R2281:Adamts4 UTSW 1 171,083,798 (GRCm39) missense probably damaging 1.00
R4261:Adamts4 UTSW 1 171,086,673 (GRCm39) missense probably benign 0.01
R4750:Adamts4 UTSW 1 171,078,635 (GRCm39) missense probably benign
R4924:Adamts4 UTSW 1 171,086,643 (GRCm39) missense probably damaging 0.97
R5418:Adamts4 UTSW 1 171,080,143 (GRCm39) missense probably damaging 1.00
R5468:Adamts4 UTSW 1 171,080,178 (GRCm39) missense probably benign
R5566:Adamts4 UTSW 1 171,078,419 (GRCm39) start codon destroyed probably null 0.90
R5781:Adamts4 UTSW 1 171,078,584 (GRCm39) missense possibly damaging 0.89
R6043:Adamts4 UTSW 1 171,080,170 (GRCm39) missense probably damaging 1.00
R6053:Adamts4 UTSW 1 171,080,284 (GRCm39) missense possibly damaging 0.85
R6187:Adamts4 UTSW 1 171,078,562 (GRCm39) missense probably damaging 1.00
R6614:Adamts4 UTSW 1 171,084,193 (GRCm39) missense probably benign 0.07
R6976:Adamts4 UTSW 1 171,079,877 (GRCm39) intron probably benign
R7291:Adamts4 UTSW 1 171,084,097 (GRCm39) missense probably benign
R7363:Adamts4 UTSW 1 171,086,608 (GRCm39) missense probably benign 0.40
R7490:Adamts4 UTSW 1 171,084,169 (GRCm39) nonsense probably null
R7797:Adamts4 UTSW 1 171,085,387 (GRCm39) missense probably damaging 1.00
R8191:Adamts4 UTSW 1 171,080,292 (GRCm39) missense
R8408:Adamts4 UTSW 1 171,080,314 (GRCm39) missense possibly damaging 0.56
R8684:Adamts4 UTSW 1 171,086,541 (GRCm39) missense probably damaging 1.00
R9541:Adamts4 UTSW 1 171,084,695 (GRCm39) missense probably damaging 1.00
R9694:Adamts4 UTSW 1 171,081,530 (GRCm39) missense probably benign 0.02
R9760:Adamts4 UTSW 1 171,086,334 (GRCm39) missense probably benign
X0062:Adamts4 UTSW 1 171,084,118 (GRCm39) missense probably damaging 1.00
Z1176:Adamts4 UTSW 1 171,086,353 (GRCm39) missense probably benign 0.29
Z1176:Adamts4 UTSW 1 171,086,352 (GRCm39) missense probably benign 0.00
Predicted Primers
Posted On 2016-03-17