Incidental Mutation 'R7169:Adamts14'
ID 558138
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 045229-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7169 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 61032891-61109217 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61040707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 870 (V870A)
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: V870A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090143
Gene: ENSMUSG00000059901
AA Change: V870A

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: V873A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112723
Gene: ENSMUSG00000059901
AA Change: V873A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 T G 10: 20,930,918 (GRCm39) D919E probably damaging Het
Angptl6 T A 9: 20,786,475 (GRCm39) R390S probably damaging Het
Arhgef11 A G 3: 87,634,755 (GRCm39) I873V possibly damaging Het
BC024063 T C 10: 81,946,293 (GRCm39) Y638H possibly damaging Het
Brsk1 T C 7: 4,718,403 (GRCm39) S751P probably benign Het
Calhm5 T A 10: 33,968,160 (GRCm39) T298S probably damaging Het
Cdh20 G A 1: 104,875,078 (GRCm39) A287T possibly damaging Het
Clic3 G A 2: 25,348,731 (GRCm39) R237H probably benign Het
Cog6 G T 3: 52,897,387 (GRCm39) P562H possibly damaging Het
Csnk2a2 A G 8: 96,215,006 (GRCm39) Y24H Het
Ctif T C 18: 75,605,087 (GRCm39) D484G probably damaging Het
Cyria A G 12: 12,409,233 (GRCm39) D71G possibly damaging Het
Dennd6b A T 15: 89,073,055 (GRCm39) F161I possibly damaging Het
Dnah14 G T 1: 181,529,930 (GRCm39) V2235L probably benign Het
Dnah6 A T 6: 73,015,729 (GRCm39) V3636D probably damaging Het
Dpm1 A T 2: 168,053,343 (GRCm39) Y207* probably null Het
Eml3 A G 19: 8,910,828 (GRCm39) T227A probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Eppk1 C A 15: 75,990,114 (GRCm39) A2256S probably benign Het
Etnppl A T 3: 130,414,345 (GRCm39) N80I probably damaging Het
Eya4 A T 10: 23,031,845 (GRCm39) N236K probably benign Het
Gm12886 T G 4: 121,273,948 (GRCm39) Q89H probably damaging Het
Gsdme T C 6: 50,204,358 (GRCm39) T200A probably benign Het
Hipk1 C T 3: 103,651,533 (GRCm39) A1122T probably benign Het
Icos A G 1: 61,034,705 (GRCm39) D176G probably damaging Het
Igkv5-43 T A 6: 69,800,519 (GRCm39) Y56F probably damaging Het
Il1r1 T C 1: 40,332,519 (GRCm39) probably null Het
Ildr2 G A 1: 166,135,503 (GRCm39) probably null Het
Ilf3 T A 9: 21,306,722 (GRCm39) H305Q probably damaging Het
Insrr A G 3: 87,715,901 (GRCm39) H532R probably benign Het
Lmbr1l CACTACATACTACATACTACATACTACATACTACATACTACATAC CACTACATACTACATACTACATACTACATACTACATACTACATACTACATAC 15: 98,807,039 (GRCm39) probably null Het
Lmbr1l ACTACAT ACTACATGCTACAT 15: 98,807,075 (GRCm39) probably benign Het
Lratd1 A G 12: 14,200,619 (GRCm39) F36S probably damaging Het
Lrrc25 T G 8: 71,070,437 (GRCm39) S73A probably benign Het
Lrrn1 T C 6: 107,544,565 (GRCm39) L121P probably damaging Het
Ly6c1 C A 15: 74,916,495 (GRCm39) V116L probably benign Het
Meltf A G 16: 31,698,980 (GRCm39) D30G probably benign Het
Mroh7 T A 4: 106,548,836 (GRCm39) D1009V probably damaging Het
Mybpc3 T C 2: 90,948,524 (GRCm39) V4A possibly damaging Het
Mycbp2 A G 14: 103,497,636 (GRCm39) S979P possibly damaging Het
Ntn5 C T 7: 45,336,198 (GRCm39) R210* probably null Het
Nuak1 T C 10: 84,210,609 (GRCm39) D493G probably damaging Het
Oprk1 T A 1: 5,659,304 (GRCm39) D11E probably benign Het
Or13a1 G T 6: 116,471,025 (GRCm39) A152S probably benign Het
Or4f14 A G 2: 111,742,939 (GRCm39) M112T possibly damaging Het
Or4k37 T A 2: 111,158,943 (GRCm39) Y60N probably damaging Het
Or56a41 T C 7: 104,740,397 (GRCm39) I150V possibly damaging Het
Pkd1l2 T A 8: 117,767,574 (GRCm39) T1239S possibly damaging Het
Pkm A G 9: 59,578,908 (GRCm39) D296G possibly damaging Het
Pof1b A G X: 111,554,042 (GRCm39) I544T probably benign Het
Pop5 T A 5: 115,378,287 (GRCm39) V77E possibly damaging Het
Ppp1r10 T C 17: 36,240,365 (GRCm39) S552P probably damaging Het
Rabggta C G 14: 55,958,358 (GRCm39) R101P probably damaging Het
Rorc A T 3: 94,296,487 (GRCm39) E243V probably benign Het
Setmar C A 6: 108,042,049 (GRCm39) A3E possibly damaging Het
Skor2 T A 18: 76,948,681 (GRCm39) V801E probably benign Het
Slc12a7 G A 13: 73,932,679 (GRCm39) V56M probably benign Het
Snph T A 2: 151,436,307 (GRCm39) N207I probably damaging Het
Snx14 A G 9: 88,280,362 (GRCm39) V531A probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Tlr3 A T 8: 45,850,056 (GRCm39) M871K probably damaging Het
Tnfrsf11a A T 1: 105,772,421 (GRCm39) R569S possibly damaging Het
Trim66 A G 7: 109,054,328 (GRCm39) V1294A probably benign Het
Vldlr G A 19: 27,221,728 (GRCm39) V698I probably benign Het
Vmn2r73 G A 7: 85,507,663 (GRCm39) Q550* probably null Het
Zdhhc5 A T 2: 84,532,675 (GRCm39) probably null Het
Zfhx3 T A 8: 109,678,030 (GRCm39) Y3027N possibly damaging Het
Zfp663 C T 2: 165,194,359 (GRCm39) S620N probably benign 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
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
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'- TTTGGCGTAAGGAAGTGCTAC -3'
(R):5'- CAAAGTCACTTCTCCACTGGTG -3'

Sequencing Primer
(F):5'- TTTGGCGTAAGGAAGTGCTACAGTAG -3'
(R):5'- CCTGTAGAAAGTTACTTGCCCAGG -3'
Posted On 2019-06-26