Incidental Mutation 'IGL03010:Adamts4'
ID 407721
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 # IGL03010
Quality Score
Status
Chromosome 1
Chromosomal Location 171077990-171088206 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 171078985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 202 (C202R)
Ref Sequence ENSEMBL: ENSMUSP00000151387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013737] [ENSMUST00000111314] [ENSMUST00000111315] [ENSMUST00000111318] [ENSMUST00000191871] [ENSMUST00000219033] [ENSMUST00000194778]
AlphaFold Q8BNJ2
Predicted Effect probably benign
Transcript: ENSMUST00000013737
SMART Domains Protein: ENSMUSP00000013737
Gene: ENSMUSG00000013593

DomainStartEndE-ValueType
Pfam:Complex1_49kDa 193 463 1.1e-131 PFAM
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 damaging
Transcript: ENSMUST00000111315
AA Change: C190R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106947
Gene: ENSMUSG00000006403
AA Change: C190R

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: ENSMUST00000111318
SMART Domains Protein: ENSMUSP00000106950
Gene: ENSMUSG00000013593

DomainStartEndE-ValueType
Pfam:Complex1_49kDa 193 236 2e-21 PFAM
Pfam:Complex1_49kDa 232 437 1.7e-105 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136976
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 damaging
Transcript: ENSMUST00000219033
AA Change: C202R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000194778
SMART Domains Protein: ENSMUSP00000141370
Gene: ENSMUSG00000013593

DomainStartEndE-ValueType
Pfam:Complex1_49kDa 166 231 3.4e-28 PFAM
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,100,959 (GRCm39) R374G probably damaging Het
Afap1l1 T C 18: 61,876,390 (GRCm39) D409G probably benign Het
Atp6v1b2 T C 8: 69,558,534 (GRCm39) I334T probably damaging Het
Btn2a2 A T 13: 23,670,375 (GRCm39) Y119* probably null Het
Cct2 T C 10: 116,894,019 (GRCm39) D245G probably damaging Het
Ercc2 A G 7: 19,125,491 (GRCm39) K486E possibly damaging Het
Fam186b T C 15: 99,178,508 (GRCm39) S273G possibly damaging Het
Fbxw24 T A 9: 109,452,678 (GRCm39) I106L probably benign Het
Ghrhr T C 6: 55,361,742 (GRCm39) I303T probably damaging Het
Habp2 T C 19: 56,299,655 (GRCm39) probably null Het
Haus3 T A 5: 34,323,631 (GRCm39) E326D probably benign Het
Hdac7 C T 15: 97,691,810 (GRCm39) probably null Het
Hectd2 T A 19: 36,593,002 (GRCm39) D722E probably benign Het
Il20ra G T 10: 19,624,960 (GRCm39) G80W probably damaging Het
Jag1 T C 2: 136,935,118 (GRCm39) probably benign Het
Lrp1b A G 2: 42,213,618 (GRCm39) S65P possibly damaging Het
Lypd2 A G 15: 74,606,102 (GRCm39) I12T probably benign Het
Nat2 T A 8: 67,954,664 (GRCm39) L258Q probably damaging Het
Nwd1 T C 8: 73,414,688 (GRCm39) probably benign Het
Or2y1b T A 11: 49,208,973 (GRCm39) V200E probably damaging Het
Or5ac24 A G 16: 59,165,135 (GRCm39) probably benign Het
Or6c3 G T 10: 129,308,843 (GRCm39) C94F probably damaging Het
Pcdh15 T A 10: 74,221,777 (GRCm39) D692E probably damaging Het
Prkcz G T 4: 155,371,262 (GRCm39) H134N probably damaging Het
Prmt8 T C 6: 127,706,498 (GRCm39) T98A probably benign Het
Rps6kc1 C A 1: 190,643,803 (GRCm39) E19* probably null Het
Rrp8 A G 7: 105,383,598 (GRCm39) S223P probably benign Het
Septin10 G A 10: 59,006,777 (GRCm39) probably benign Het
Serpinb7 T C 1: 107,379,741 (GRCm39) probably benign Het
Spaca6 C A 17: 18,058,667 (GRCm39) Q72K probably benign Het
Spag1 A G 15: 36,233,419 (GRCm39) H712R probably benign Het
Spg11 C A 2: 121,918,801 (GRCm39) A943S probably damaging Het
Tmem104 T C 11: 115,134,360 (GRCm39) S298P probably benign Het
Ttn A G 2: 76,565,432 (GRCm39) I28265T probably damaging Het
Usp33 G T 3: 152,074,233 (GRCm39) V360F probably benign Het
Vmn2r113 A G 17: 23,175,038 (GRCm39) T550A possibly damaging Het
Zscan4d A T 7: 10,897,070 (GRCm39) V128D 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
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 2016-08-02