Incidental Mutation 'R1565:Adamts14'
ID 175205
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 039604-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1565 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 61032891-61109217 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61106676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 148 (M148K)
Ref Sequence ENSEMBL: ENSMUSP00000112723 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092486] [ENSMUST00000120336]
AlphaFold E9PX39
Predicted Effect possibly damaging
Transcript: ENSMUST00000092486
AA Change: M148K

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090143
Gene: ENSMUSG00000059901
AA Change: M148K

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: M148K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112723
Gene: ENSMUSG00000059901
AA Change: M148K

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
Meta Mutation Damage Score 0.2223 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.0%
Validation Efficiency 96% (82/85)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,771,327 (GRCm39) G270S probably benign Het
Abtb1 T C 6: 88,813,536 (GRCm39) T401A probably benign Het
Adcy5 A G 16: 35,089,327 (GRCm39) E508G probably damaging Het
Ankfy1 T A 11: 72,648,144 (GRCm39) L875H probably damaging Het
Cacng3 A T 7: 122,367,624 (GRCm39) D168V probably damaging Het
Clpb G A 7: 101,434,668 (GRCm39) R488Q probably benign Het
Cltrn A G X: 162,901,230 (GRCm39) D184G possibly damaging Het
Cpxm2 A T 7: 131,663,874 (GRCm39) Y350N probably damaging Het
D130040H23Rik T A 8: 69,755,812 (GRCm39) *406R probably null Het
Dnah10 T A 5: 124,906,678 (GRCm39) D4236E probably damaging Het
Dpf3 T A 12: 83,417,391 (GRCm39) Y27F probably damaging Het
Esp4 T C 17: 40,913,486 (GRCm39) *118Q probably null Het
Fam222b T C 11: 78,045,488 (GRCm39) S222P possibly damaging Het
Flnc T C 6: 29,455,170 (GRCm39) V1933A probably damaging Het
Gem T C 4: 11,713,709 (GRCm39) F282L possibly damaging Het
Gli2 T C 1: 118,769,660 (GRCm39) T631A possibly damaging Het
Gpld1 T A 13: 25,140,051 (GRCm39) V116E probably damaging Het
Gpr176 A G 2: 118,110,695 (GRCm39) M188T probably benign Het
Grk5 T C 19: 61,078,410 (GRCm39) V489A probably damaging Het
Hpdl T C 4: 116,678,080 (GRCm39) N127S probably damaging Het
Hsd17b8 C T 17: 34,246,469 (GRCm39) V105I possibly damaging Het
Id4 G T 13: 48,415,770 (GRCm39) V151L possibly damaging Het
Kcnh8 G T 17: 53,263,909 (GRCm39) G802V probably benign Het
Lamc1 C A 1: 153,118,489 (GRCm39) S894I probably benign Het
Larp1b A G 3: 40,926,819 (GRCm39) N184S probably damaging Het
Lhx1 A T 11: 84,410,647 (GRCm39) S226T probably benign Het
Lmo7 A T 14: 102,124,957 (GRCm39) Q472L probably damaging Het
Mog G C 17: 37,328,474 (GRCm39) N152K possibly damaging Het
Mttp A G 3: 137,822,166 (GRCm39) probably null Het
Mycbp2 A G 14: 103,489,945 (GRCm39) V953A possibly damaging Het
Myo3a A T 2: 22,345,091 (GRCm39) Y509F probably damaging Het
Myo9b A G 8: 71,767,836 (GRCm39) N303S possibly damaging Het
Nek3 T C 8: 22,622,217 (GRCm39) probably null Het
Nlrc4 A T 17: 74,748,926 (GRCm39) D771E probably benign Het
Nup160 A T 2: 90,552,405 (GRCm39) N1127I possibly damaging Het
Oas1h A T 5: 121,000,663 (GRCm39) N91I probably damaging Het
Or13p4 T A 4: 118,547,389 (GRCm39) N87Y probably damaging Het
Or4c120 A T 2: 89,000,971 (GRCm39) V195D probably benign Het
Or4c121 G T 2: 89,024,227 (GRCm39) S50R probably damaging Het
Parp4 T C 14: 56,827,329 (GRCm39) probably benign Het
Pi4ka G A 16: 17,099,764 (GRCm39) C96Y probably null Het
Pira2 A T 7: 3,847,548 (GRCm39) F47Y probably damaging Het
Pkhd1 C A 1: 20,417,681 (GRCm39) G2490V probably damaging Het
Plekhg1 C T 10: 3,890,526 (GRCm39) T394I probably damaging Het
Pramel22 G A 4: 143,382,187 (GRCm39) Q170* probably null Het
Psmd1 T C 1: 86,019,719 (GRCm39) probably benign Het
Rab3ip A T 10: 116,775,128 (GRCm39) C77S probably benign Het
Reln A T 5: 22,130,211 (GRCm39) M2700K probably benign Het
Rfx1 A G 8: 84,800,575 (GRCm39) T59A probably benign Het
Ric8b G T 10: 84,815,963 (GRCm39) V405L probably benign Het
Rufy3 G T 5: 88,788,491 (GRCm39) A479S probably damaging Het
Sardh A T 2: 27,132,731 (GRCm39) Y166N probably damaging Het
Slamf6 T G 1: 171,761,975 (GRCm39) V132G possibly damaging Het
Slc12a3 T G 8: 95,072,505 (GRCm39) H674Q possibly damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Srsf9 A G 5: 115,465,429 (GRCm39) N21S possibly damaging Het
Stkld1 A T 2: 26,840,102 (GRCm39) T391S probably benign Het
Sumf2 C A 5: 129,888,755 (GRCm39) N230K probably damaging Het
Tbc1d22a T C 15: 86,119,770 (GRCm39) V22A possibly damaging Het
Thsd7b T A 1: 129,523,778 (GRCm39) S194T possibly damaging Het
Tnn T A 1: 159,924,835 (GRCm39) Y1173F probably damaging Het
Top2a A G 11: 98,891,880 (GRCm39) F1122L probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trim39 G A 17: 36,579,746 (GRCm39) R70W probably damaging Het
Ttn G A 2: 76,624,605 (GRCm39) T15289I probably damaging Het
Ugt2b38 A T 5: 87,559,773 (GRCm39) V373E probably damaging Het
Usp54 A G 14: 20,657,227 (GRCm39) S24P probably damaging Het
Vmn2r27 C T 6: 124,208,593 (GRCm39) G51S probably benign Het
Xylt2 C T 11: 94,558,420 (GRCm39) A579T probably benign Het
Zbtb21 A G 16: 97,753,627 (GRCm39) S247P probably benign Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zfp251 T A 15: 76,737,238 (GRCm39) R613S probably damaging Het
Zfp251 C T 15: 76,737,239 (GRCm39) R613K possibly damaging Het
Zfp91 T C 19: 12,756,439 (GRCm39) D135G 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
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
Predicted Primers PCR Primer
(F):5'- TTGGAAGACAGACAGGCCATTGAC -3'
(R):5'- TGCAGCACAGATTTCCAGGGAC -3'

Sequencing Primer
(F):5'- GGAAATCCCAAATCTATAGGGGGC -3'
(R):5'- ACAGATTTCCAGGGACGCTTC -3'
Posted On 2014-04-24