Incidental Mutation 'IGL01021:Adamts14'
ID 53841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adamts14
Ensembl Gene ENSMUSG00000059901
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 14
Synonyms TS14, Adamts-14
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01021
Quality Score
Status
Chromosome 10
Chromosomal Location 61032891-61109217 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 61061152 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Tyrosine at position 426 (S426Y)
Ref Sequence ENSEMBL: ENSMUSP00000090143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092486] [ENSMUST00000120336]
AlphaFold E9PX39
Predicted Effect probably damaging
Transcript: ENSMUST00000092486
AA Change: S426Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000090143
Gene: ENSMUSG00000059901
AA Change: S426Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Pep_M12B_propep 38 194 6.3e-30 PFAM
Pfam:Reprolysin_5 245 424 6e-17 PFAM
Pfam:Reprolysin_4 246 432 2.5e-7 PFAM
Pfam:Reprolysin 246 447 1.9e-21 PFAM
Pfam:Reprolysin_2 264 437 9.2e-10 PFAM
Pfam:Reprolysin_3 268 396 2.5e-12 PFAM
TSP1 542 594 5.9e-16 SMART
Pfam:ADAM_spacer1 701 816 1.8e-24 PFAM
TSP1 837 894 2.1e-2 SMART
TSP1 897 956 3.42e-3 SMART
TSP1 959 1009 4.48e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120336
AA Change: S429Y

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112723
Gene: ENSMUSG00000059901
AA Change: S429Y

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Pep_M12B_propep 39 194 1.6e-38 PFAM
Pfam:Reprolysin_5 245 427 5.9e-16 PFAM
Pfam:Reprolysin_4 246 435 1.1e-7 PFAM
Pfam:Reprolysin 246 450 3.2e-20 PFAM
Pfam:Reprolysin_2 264 441 5.5e-12 PFAM
Pfam:Reprolysin_3 268 399 1.5e-13 PFAM
TSP1 545 597 5.9e-16 SMART
Pfam:ADAM_spacer1 704 819 8e-25 PFAM
TSP1 840 897 2.1e-2 SMART
TSP1 900 959 3.42e-3 SMART
TSP1 962 1012 4.48e-7 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik T C 7: 124,917,848 (GRCm39) V80A unknown Het
Adam28 A G 14: 68,879,563 (GRCm39) S162P probably benign Het
Ankrd24 A G 10: 81,470,995 (GRCm39) probably null Het
B3galt5 C A 16: 96,116,923 (GRCm39) H185Q probably benign Het
Bod1l A G 5: 41,995,516 (GRCm39) probably benign Het
Ddx46 T A 13: 55,814,145 (GRCm39) Y700* probably null Het
Dph7 T G 2: 24,861,935 (GRCm39) probably null Het
Eif1ad9 G A 12: 88,296,042 (GRCm39) G7R unknown Het
Fcho1 A T 8: 72,166,167 (GRCm39) Y354* probably null Het
Fnbp4 A G 2: 90,608,013 (GRCm39) M912V probably benign Het
Fpgt T A 3: 154,797,129 (GRCm39) E42V possibly damaging Het
Frmd3 A G 4: 73,992,357 (GRCm39) I75V possibly damaging Het
Gm3278 G T 14: 16,082,261 (GRCm39) V159L possibly damaging Het
Gmds T C 13: 32,311,013 (GRCm39) I205V possibly damaging Het
Gprin1 T A 13: 54,888,182 (GRCm39) S31C probably damaging Het
Igkv4-68 T C 6: 69,281,865 (GRCm39) E102G probably damaging Het
Itga1 T A 13: 115,133,536 (GRCm39) Y458F probably benign Het
Kif20b T C 19: 34,915,660 (GRCm39) V479A possibly damaging Het
Megf8 T A 7: 25,037,799 (GRCm39) W772R probably benign Het
Muc6 T A 7: 141,217,075 (GRCm39) I2533F possibly damaging Het
Npas3 T C 12: 54,050,343 (GRCm39) S258P probably damaging Het
Padi3 T C 4: 140,523,645 (GRCm39) probably benign Het
Pmfbp1 G T 8: 110,264,625 (GRCm39) R897L possibly damaging Het
Rims1 A T 1: 22,525,701 (GRCm39) W407R probably damaging Het
Scnn1b G T 7: 121,517,259 (GRCm39) D632Y probably damaging Het
Tas2r123 G A 6: 132,824,369 (GRCm39) A89T probably benign Het
Tbk1 T C 10: 121,387,177 (GRCm39) E706G probably benign Het
Thra A G 11: 98,653,754 (GRCm39) D195G possibly damaging Het
Tpp2 T A 1: 43,973,347 (GRCm39) Y33* probably null Het
Usp6nl T A 2: 6,429,198 (GRCm39) M220K probably damaging Het
Vmn2r112 C T 17: 22,837,885 (GRCm39) T782I probably damaging Het
Zbtb43 T C 2: 33,343,771 (GRCm39) T485A probably benign Het
Zfat T C 15: 68,042,015 (GRCm39) I840V possibly damaging Het
Other mutations in Adamts14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Adamts14 APN 10 61,065,455 (GRCm39) missense probably damaging 1.00
IGL00800:Adamts14 APN 10 61,041,197 (GRCm39) missense probably benign 0.00
IGL01022:Adamts14 APN 10 61,038,721 (GRCm39) missense probably benign 0.01
IGL01335:Adamts14 APN 10 61,034,460 (GRCm39) missense possibly damaging 0.90
IGL01419:Adamts14 APN 10 61,041,321 (GRCm39) splice site probably benign
IGL01595:Adamts14 APN 10 61,041,252 (GRCm39) missense probably damaging 1.00
R0594:Adamts14 UTSW 10 61,038,666 (GRCm39) missense probably damaging 1.00
R0629:Adamts14 UTSW 10 61,047,403 (GRCm39) nonsense probably null
R1459:Adamts14 UTSW 10 61,034,583 (GRCm39) missense probably benign 0.13
R1565:Adamts14 UTSW 10 61,106,676 (GRCm39) missense probably damaging 1.00
R1686:Adamts14 UTSW 10 61,034,439 (GRCm39) missense probably benign
R1792:Adamts14 UTSW 10 61,054,277 (GRCm39) missense probably benign 0.07
R1876:Adamts14 UTSW 10 61,036,151 (GRCm39) missense probably benign 0.03
R1992:Adamts14 UTSW 10 61,034,439 (GRCm39) missense probably benign
R2064:Adamts14 UTSW 10 61,041,301 (GRCm39) missense probably benign 0.24
R2495:Adamts14 UTSW 10 61,034,749 (GRCm39) splice site probably null
R2848:Adamts14 UTSW 10 61,054,214 (GRCm39) missense probably damaging 1.00
R2897:Adamts14 UTSW 10 61,040,689 (GRCm39) missense probably damaging 0.99
R3428:Adamts14 UTSW 10 61,060,153 (GRCm39) missense probably benign 0.36
R4006:Adamts14 UTSW 10 61,038,600 (GRCm39) critical splice donor site probably null
R5129:Adamts14 UTSW 10 61,085,397 (GRCm39) missense probably benign 0.02
R5327:Adamts14 UTSW 10 61,034,267 (GRCm39) missense probably benign 0.01
R5524:Adamts14 UTSW 10 61,066,222 (GRCm39) missense probably damaging 1.00
R5594:Adamts14 UTSW 10 61,062,880 (GRCm39) splice site probably null
R5694:Adamts14 UTSW 10 61,065,431 (GRCm39) missense probably benign 0.45
R5801:Adamts14 UTSW 10 61,038,775 (GRCm39) missense probably damaging 0.99
R5941:Adamts14 UTSW 10 61,057,674 (GRCm39) missense probably damaging 1.00
R5953:Adamts14 UTSW 10 61,043,225 (GRCm39) missense probably damaging 0.99
R6778:Adamts14 UTSW 10 61,061,231 (GRCm39) missense probably damaging 1.00
R7169:Adamts14 UTSW 10 61,040,707 (GRCm39) missense probably damaging 0.97
R7215:Adamts14 UTSW 10 61,047,375 (GRCm39) missense possibly damaging 0.89
R7337:Adamts14 UTSW 10 61,043,239 (GRCm39) missense probably damaging 0.98
R7511:Adamts14 UTSW 10 61,054,307 (GRCm39) missense possibly damaging 0.74
R7640:Adamts14 UTSW 10 61,081,836 (GRCm39) missense probably benign 0.00
R7798:Adamts14 UTSW 10 61,106,952 (GRCm39) missense probably damaging 0.99
R7902:Adamts14 UTSW 10 61,041,176 (GRCm39) missense possibly damaging 0.92
R8062:Adamts14 UTSW 10 61,036,140 (GRCm39) critical splice donor site probably null
R8284:Adamts14 UTSW 10 61,034,438 (GRCm39) missense possibly damaging 0.55
R8319:Adamts14 UTSW 10 61,057,706 (GRCm39) missense probably benign
R8475:Adamts14 UTSW 10 61,038,666 (GRCm39) missense probably damaging 1.00
R8494:Adamts14 UTSW 10 61,038,708 (GRCm39) missense probably benign 0.03
R8519:Adamts14 UTSW 10 61,038,619 (GRCm39) missense possibly damaging 0.84
R8547:Adamts14 UTSW 10 61,106,998 (GRCm39) missense probably damaging 1.00
R8797:Adamts14 UTSW 10 61,106,781 (GRCm39) missense probably benign 0.44
R8978:Adamts14 UTSW 10 61,038,795 (GRCm39) missense probably damaging 0.96
R9023:Adamts14 UTSW 10 61,038,780 (GRCm39) missense probably damaging 1.00
R9067:Adamts14 UTSW 10 61,085,439 (GRCm39) missense possibly damaging 0.78
R9326:Adamts14 UTSW 10 61,036,238 (GRCm39) missense probably benign 0.00
R9641:Adamts14 UTSW 10 61,106,829 (GRCm39) missense probably damaging 1.00
R9785:Adamts14 UTSW 10 61,049,427 (GRCm39) missense possibly damaging 0.83
Z1088:Adamts14 UTSW 10 61,054,224 (GRCm39) missense probably damaging 1.00
Z1177:Adamts14 UTSW 10 61,034,622 (GRCm39) missense possibly damaging 0.69
Posted On 2013-06-28