Incidental Mutation 'IGL02695:Adamts4'
ID 303898
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adamts4
Ensembl Gene ENSMUSG00000006403
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 4
Synonyms aggrecanase-1, ADAM-TS4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02695
Quality Score
Status
Chromosome 1
Chromosomal Location 171077990-171088206 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 171080203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 252 (T252K)
Ref Sequence ENSEMBL: ENSMUSP00000151387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111314] [ENSMUST00000111315] [ENSMUST00000191871] [ENSMUST00000194778] [ENSMUST00000219033]
AlphaFold Q8BNJ2
Predicted Effect probably damaging
Transcript: ENSMUST00000111314
AA Change: T55K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106946
Gene: ENSMUSG00000006403
AA Change: T55K

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 damaging
Transcript: ENSMUST00000111315
AA Change: T240K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106947
Gene: ENSMUSG00000006403
AA Change: T240K

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 damaging
Transcript: ENSMUST00000219033
AA Change: T252K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A T 14: 66,287,929 (GRCm39) M389K probably benign Het
Adgrb2 G A 4: 129,912,625 (GRCm39) G1293D probably damaging Het
Ankfn1 T C 11: 89,282,645 (GRCm39) E1013G probably damaging Het
Ankrd34b C A 13: 92,576,120 (GRCm39) H451N possibly damaging Het
Cd300c2 C T 11: 114,892,379 (GRCm39) probably benign Het
Cntnap3 T G 13: 64,919,946 (GRCm39) Q637P probably benign Het
Cpne6 A T 14: 55,752,037 (GRCm39) I265F probably damaging Het
Dot1l C A 10: 80,613,442 (GRCm39) T18K probably damaging Het
Fam83c T C 2: 155,673,435 (GRCm39) D251G probably benign Het
Fyb1 A G 15: 6,610,402 (GRCm39) K325R probably damaging Het
Gas2l2 T A 11: 83,313,468 (GRCm39) I615F probably damaging Het
Gigyf2 A G 1: 87,344,549 (GRCm39) N494S probably benign Het
Gnaz T C 10: 74,827,974 (GRCm39) probably null Het
Haus5 A T 7: 30,362,702 (GRCm39) L36Q probably damaging Het
Hecw2 C T 1: 53,965,368 (GRCm39) G486D possibly damaging Het
Hmcn2 T C 2: 31,298,985 (GRCm39) F2777S possibly damaging Het
Il1rl1 T C 1: 40,485,718 (GRCm39) S290P possibly damaging Het
Itgam G T 7: 127,685,113 (GRCm39) A409S possibly damaging Het
Kdm5b T A 1: 134,532,223 (GRCm39) M467K possibly damaging Het
Lama2 A C 10: 26,876,771 (GRCm39) V2725G probably benign Het
Lhpp G A 7: 132,252,063 (GRCm39) R234Q probably damaging Het
Maf1 T C 15: 76,236,955 (GRCm39) S65P possibly damaging Het
Mgat5 T A 1: 127,339,868 (GRCm39) H416Q probably damaging Het
Mta2 A G 19: 8,925,728 (GRCm39) T408A probably benign Het
Neb T A 2: 52,145,603 (GRCm39) I2974F probably damaging Het
Neb C T 2: 52,101,608 (GRCm39) probably benign Het
Or1j19 C T 2: 36,677,332 (GRCm39) S265L possibly damaging Het
Or2d4 A G 7: 106,543,870 (GRCm39) S113P possibly damaging Het
Or52p1 A G 7: 104,267,678 (GRCm39) H264R probably damaging Het
Or5w22 C T 2: 87,362,461 (GRCm39) T28I probably benign Het
Pcca T A 14: 122,820,150 (GRCm39) probably benign Het
Prlr T C 15: 10,328,451 (GRCm39) F309L probably benign Het
Slc28a1 A T 7: 80,817,739 (GRCm39) Y536F probably benign Het
Slco1a8 A G 6: 141,933,486 (GRCm39) V433A probably damaging Het
Stab1 T A 14: 30,881,228 (GRCm39) N601Y probably damaging Het
Stil G T 4: 114,873,372 (GRCm39) V332F probably damaging Het
Stk11 A G 10: 79,961,311 (GRCm39) probably null Het
Tmem59 A G 4: 107,050,511 (GRCm39) N147S probably benign 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
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
R4868:Adamts4 UTSW 1 171,080,000 (GRCm39) intron 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
Posted On 2015-04-16