Incidental Mutation 'R4006:Adamts14'
ID 311485
Institutional Source Beutler Lab
Gene Symbol Adamts14
Ensembl Gene ENSMUSG00000059901
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 14
Synonyms TS14, Adamts-14
MMRRC Submission 040845-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4006 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 61032891-61109217 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 61038600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092486] [ENSMUST00000092486] [ENSMUST00000120336] [ENSMUST00000120336]
AlphaFold E9PX39
Predicted Effect probably null
Transcript: ENSMUST00000092486
SMART Domains Protein: ENSMUSP00000090143
Gene: ENSMUSG00000059901

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 null
Transcript: ENSMUST00000092486
SMART Domains Protein: ENSMUSP00000090143
Gene: ENSMUSG00000059901

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 null
Transcript: ENSMUST00000120336
SMART Domains Protein: ENSMUSP00000112723
Gene: ENSMUSG00000059901

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
Predicted Effect probably null
Transcript: ENSMUST00000120336
SMART Domains Protein: ENSMUSP00000112723
Gene: ENSMUSG00000059901

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.2%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano4 C A 10: 88,924,125 (GRCm39) V329L probably benign Het
Camkv C T 9: 107,823,840 (GRCm39) R196W probably damaging Het
Chd9 T C 8: 91,660,188 (GRCm39) S383P probably benign Het
Cimip1 T C 2: 173,367,880 (GRCm39) probably null Het
Cul4a A G 8: 13,172,859 (GRCm39) N164S probably benign Het
Dsg4 G A 18: 20,604,022 (GRCm39) E830K probably damaging Het
Fbln2 C A 6: 91,246,943 (GRCm39) probably null Het
Grm8 T C 6: 27,981,229 (GRCm39) Y227C probably damaging Het
Gsn G A 2: 35,197,633 (GRCm39) W717* probably null Het
Htr2a A T 14: 74,879,581 (GRCm39) H70L probably benign Het
Igfn1 C T 1: 135,910,100 (GRCm39) probably null Het
Iqsec3 A G 6: 121,353,187 (GRCm39) S1144P probably damaging Het
Lpin2 C T 17: 71,553,496 (GRCm39) T878I probably damaging Het
Lrrn2 A T 1: 132,865,478 (GRCm39) D181V probably damaging Het
Mc1r T C 8: 124,134,376 (GRCm39) F43S probably damaging Het
Mst1 A G 9: 107,960,147 (GRCm39) E377G possibly damaging Het
Nfatc3 T A 8: 106,835,471 (GRCm39) I931N probably benign Het
Nup188 G A 2: 30,199,890 (GRCm39) D305N probably damaging Het
Or5e1 C T 7: 108,354,468 (GRCm39) T135I probably damaging Het
Or8k35 T C 2: 86,424,908 (GRCm39) D88G probably benign Het
Pate3 T A 9: 35,557,398 (GRCm39) H86L probably damaging Het
Pla2r1 A T 2: 60,353,217 (GRCm39) F248Y probably damaging Het
Ppp1r37 A G 7: 19,268,994 (GRCm39) S169P probably damaging Het
Pramex1 A T X: 134,514,374 (GRCm39) L305Q probably damaging Het
Prkcg G A 7: 3,375,983 (GRCm39) V492I probably damaging Het
Psmb11 T A 14: 54,863,103 (GRCm39) V107E probably damaging Het
Reg1 A G 6: 78,404,013 (GRCm39) D60G probably null Het
Shoc1 A T 4: 59,076,500 (GRCm39) V481D possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Trim23 A G 13: 104,324,131 (GRCm39) T177A probably benign Het
Xkr4 A T 1: 3,491,998 (GRCm39) F308L probably benign Het
Xylt1 A G 7: 117,074,748 (GRCm39) I122V probably benign Het
Zan T C 5: 137,462,201 (GRCm39) T993A unknown Het
Zbtb20 T C 16: 43,429,762 (GRCm39) L18P probably damaging Het
Zfp292 T C 4: 34,807,744 (GRCm39) I1767V probably benign Het
Zfp292 G T 4: 34,809,611 (GRCm39) S1144R possibly damaging Het
Zfp317 T G 9: 19,559,333 (GRCm39) W516G possibly damaging Het
Zfp974 G A 7: 27,611,677 (GRCm39) T16I 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
IGL01021:Adamts14 APN 10 61,061,152 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- ATGCATAGCACACTGGTGGG -3'
(R):5'- ATTCCGAAGCACGCACCTTC -3'

Sequencing Primer
(F):5'- TCATATTGCCCCCAAGAG -3'
(R):5'- AAGCACGCACCTTCTCTGG -3'
Posted On 2015-04-29