Incidental Mutation 'R1565:Adamts14'
ID 175205
Institutional Source Beutler Lab
Gene Symbol Adamts14
Ensembl Gene ENSMUSG00000059901
Gene Name a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 14
Synonyms Adamts-14, TS14
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 61197112-61273438 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61270897 bp (GRCm38)
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: 58,880,501 (GRCm38) G270S probably benign Het
Abtb1 T C 6: 88,836,554 (GRCm38) T401A probably benign Het
Adcy5 A G 16: 35,268,957 (GRCm38) E508G probably damaging Het
Ankfy1 T A 11: 72,757,318 (GRCm38) L875H probably damaging Het
Cacng3 A T 7: 122,768,401 (GRCm38) D168V probably damaging Het
Clpb G A 7: 101,785,461 (GRCm38) R488Q probably benign Het
Cpxm2 A T 7: 132,062,145 (GRCm38) Y350N probably damaging Het
D130040H23Rik T A 8: 69,303,160 (GRCm38) *406R probably null Het
Dnah10 T A 5: 124,829,614 (GRCm38) D4236E probably damaging Het
Dpf3 T A 12: 83,370,617 (GRCm38) Y27F probably damaging Het
Esp4 T C 17: 40,602,595 (GRCm38) *118Q probably null Het
Fam222b T C 11: 78,154,662 (GRCm38) S222P possibly damaging Het
Flnc T C 6: 29,455,171 (GRCm38) V1933A probably damaging Het
Gem T C 4: 11,713,709 (GRCm38) F282L possibly damaging Het
Gli2 T C 1: 118,841,930 (GRCm38) T631A possibly damaging Het
Gm13088 G A 4: 143,655,617 (GRCm38) Q170* probably null Het
Gpld1 T A 13: 24,956,068 (GRCm38) V116E probably damaging Het
Gpr176 A G 2: 118,280,214 (GRCm38) M188T probably benign Het
Grk5 T C 19: 61,089,972 (GRCm38) V489A probably damaging Het
H2-Ke6 C T 17: 34,027,495 (GRCm38) V105I possibly damaging Het
Hpdl T C 4: 116,820,883 (GRCm38) N127S probably damaging Het
Id4 G T 13: 48,262,294 (GRCm38) V151L possibly damaging Het
Kcnh8 G T 17: 52,956,881 (GRCm38) G802V probably benign Het
Lamc1 C A 1: 153,242,743 (GRCm38) S894I probably benign Het
Larp1b A G 3: 40,972,384 (GRCm38) N184S probably damaging Het
Lhx1 A T 11: 84,519,821 (GRCm38) S226T probably benign Het
Lmo7 A T 14: 101,887,521 (GRCm38) Q472L probably damaging Het
Mog G C 17: 37,017,582 (GRCm38) N152K possibly damaging Het
Mttp A G 3: 138,116,405 (GRCm38) probably null Het
Mycbp2 A G 14: 103,252,509 (GRCm38) V953A possibly damaging Het
Myo3a A T 2: 22,340,280 (GRCm38) Y509F probably damaging Het
Myo9b A G 8: 71,315,192 (GRCm38) N303S possibly damaging Het
Nek3 T C 8: 22,132,201 (GRCm38) probably null Het
Nlrc4 A T 17: 74,441,931 (GRCm38) D771E probably benign Het
Nup160 A T 2: 90,722,061 (GRCm38) N1127I possibly damaging Het
Oas1h A T 5: 120,862,600 (GRCm38) N91I probably damaging Het
Olfr1225 A T 2: 89,170,627 (GRCm38) V195D probably benign Het
Olfr1226 G T 2: 89,193,883 (GRCm38) S50R probably damaging Het
Olfr1342 T A 4: 118,690,192 (GRCm38) N87Y probably damaging Het
Parp4 T C 14: 56,589,872 (GRCm38) probably benign Het
Pi4ka G A 16: 17,281,900 (GRCm38) C96Y probably null Het
Pira2 A T 7: 3,844,549 (GRCm38) F47Y probably damaging Het
Pkhd1 C A 1: 20,347,457 (GRCm38) G2490V probably damaging Het
Plekhg1 C T 10: 3,940,526 (GRCm38) T394I probably damaging Het
Psmd1 T C 1: 86,091,997 (GRCm38) probably benign Het
Rab3ip A T 10: 116,939,223 (GRCm38) C77S probably benign Het
Reln A T 5: 21,925,213 (GRCm38) M2700K probably benign Het
Rfx1 A G 8: 84,073,946 (GRCm38) T59A probably benign Het
Ric8b G T 10: 84,980,099 (GRCm38) V405L probably benign Het
Rufy3 G T 5: 88,640,632 (GRCm38) A479S probably damaging Het
Sardh A T 2: 27,242,719 (GRCm38) Y166N probably damaging Het
Slamf6 T G 1: 171,934,408 (GRCm38) V132G possibly damaging Het
Slc12a3 T G 8: 94,345,877 (GRCm38) H674Q possibly damaging Het
Sned1 G A 1: 93,281,654 (GRCm38) V830M possibly damaging Het
Srsf9 A G 5: 115,327,370 (GRCm38) N21S possibly damaging Het
Stkld1 A T 2: 26,950,090 (GRCm38) T391S probably benign Het
Sumf2 C A 5: 129,859,914 (GRCm38) N230K probably damaging Het
Tbc1d22a T C 15: 86,235,569 (GRCm38) V22A possibly damaging Het
Thsd7b T A 1: 129,596,041 (GRCm38) S194T possibly damaging Het
Tmem27 A G X: 164,118,234 (GRCm38) D184G possibly damaging Het
Tnn T A 1: 160,097,265 (GRCm38) Y1173F probably damaging Het
Top2a A G 11: 99,001,054 (GRCm38) F1122L probably damaging Het
Trappc9 G A 15: 73,025,967 (GRCm38) R377W probably damaging Het
Trim39 G A 17: 36,268,854 (GRCm38) R70W probably damaging Het
Ttn G A 2: 76,794,261 (GRCm38) T15289I probably damaging Het
Ugt2b38 A T 5: 87,411,914 (GRCm38) V373E probably damaging Het
Usp54 A G 14: 20,607,159 (GRCm38) S24P probably damaging Het
Vmn2r27 C T 6: 124,231,634 (GRCm38) G51S probably benign Het
Xylt2 C T 11: 94,667,594 (GRCm38) A579T probably benign Het
Zbtb21 A G 16: 97,952,427 (GRCm38) S247P probably benign Het
Zc3h7b C T 15: 81,777,088 (GRCm38) P376L probably benign Het
Zfp251 T A 15: 76,853,038 (GRCm38) R613S probably damaging Het
Zfp251 C T 15: 76,853,039 (GRCm38) R613K possibly damaging Het
Zfp91 T C 19: 12,779,075 (GRCm38) D135G probably benign Het
Other mutations in Adamts14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Adamts14 APN 10 61,229,676 (GRCm38) missense probably damaging 1.00
IGL00800:Adamts14 APN 10 61,205,418 (GRCm38) missense probably benign 0.00
IGL01021:Adamts14 APN 10 61,225,373 (GRCm38) missense probably damaging 0.99
IGL01022:Adamts14 APN 10 61,202,942 (GRCm38) missense probably benign 0.01
IGL01335:Adamts14 APN 10 61,198,681 (GRCm38) missense possibly damaging 0.90
IGL01419:Adamts14 APN 10 61,205,542 (GRCm38) splice site probably benign
IGL01595:Adamts14 APN 10 61,205,473 (GRCm38) missense probably damaging 1.00
R0594:Adamts14 UTSW 10 61,202,887 (GRCm38) missense probably damaging 1.00
R0629:Adamts14 UTSW 10 61,211,624 (GRCm38) nonsense probably null
R1459:Adamts14 UTSW 10 61,198,804 (GRCm38) missense probably benign 0.13
R1686:Adamts14 UTSW 10 61,198,660 (GRCm38) missense probably benign
R1792:Adamts14 UTSW 10 61,218,498 (GRCm38) missense probably benign 0.07
R1876:Adamts14 UTSW 10 61,200,372 (GRCm38) missense probably benign 0.03
R1992:Adamts14 UTSW 10 61,198,660 (GRCm38) missense probably benign
R2064:Adamts14 UTSW 10 61,205,522 (GRCm38) missense probably benign 0.24
R2495:Adamts14 UTSW 10 61,198,970 (GRCm38) splice site probably null
R2848:Adamts14 UTSW 10 61,218,435 (GRCm38) missense probably damaging 1.00
R2897:Adamts14 UTSW 10 61,204,910 (GRCm38) missense probably damaging 0.99
R3428:Adamts14 UTSW 10 61,224,374 (GRCm38) missense probably benign 0.36
R4006:Adamts14 UTSW 10 61,202,821 (GRCm38) critical splice donor site probably null
R5129:Adamts14 UTSW 10 61,249,618 (GRCm38) missense probably benign 0.02
R5327:Adamts14 UTSW 10 61,198,488 (GRCm38) missense probably benign 0.01
R5524:Adamts14 UTSW 10 61,230,443 (GRCm38) missense probably damaging 1.00
R5594:Adamts14 UTSW 10 61,227,101 (GRCm38) splice site probably null
R5694:Adamts14 UTSW 10 61,229,652 (GRCm38) missense probably benign 0.45
R5801:Adamts14 UTSW 10 61,202,996 (GRCm38) missense probably damaging 0.99
R5941:Adamts14 UTSW 10 61,221,895 (GRCm38) missense probably damaging 1.00
R5953:Adamts14 UTSW 10 61,207,446 (GRCm38) missense probably damaging 0.99
R6778:Adamts14 UTSW 10 61,225,452 (GRCm38) missense probably damaging 1.00
R7169:Adamts14 UTSW 10 61,204,928 (GRCm38) missense probably damaging 0.97
R7215:Adamts14 UTSW 10 61,211,596 (GRCm38) missense possibly damaging 0.89
R7337:Adamts14 UTSW 10 61,207,460 (GRCm38) missense probably damaging 0.98
R7511:Adamts14 UTSW 10 61,218,528 (GRCm38) missense possibly damaging 0.74
R7640:Adamts14 UTSW 10 61,246,057 (GRCm38) missense probably benign 0.00
R7798:Adamts14 UTSW 10 61,271,173 (GRCm38) missense probably damaging 0.99
R7902:Adamts14 UTSW 10 61,205,397 (GRCm38) missense possibly damaging 0.92
R8062:Adamts14 UTSW 10 61,200,361 (GRCm38) critical splice donor site probably null
R8284:Adamts14 UTSW 10 61,198,659 (GRCm38) missense possibly damaging 0.55
R8319:Adamts14 UTSW 10 61,221,927 (GRCm38) missense probably benign
R8475:Adamts14 UTSW 10 61,202,887 (GRCm38) missense probably damaging 1.00
R8494:Adamts14 UTSW 10 61,202,929 (GRCm38) missense probably benign 0.03
R8519:Adamts14 UTSW 10 61,202,840 (GRCm38) missense possibly damaging 0.84
R8547:Adamts14 UTSW 10 61,271,219 (GRCm38) missense probably damaging 1.00
R8797:Adamts14 UTSW 10 61,271,002 (GRCm38) missense probably benign 0.44
R8978:Adamts14 UTSW 10 61,203,016 (GRCm38) missense probably damaging 0.96
R9023:Adamts14 UTSW 10 61,203,001 (GRCm38) missense probably damaging 1.00
R9067:Adamts14 UTSW 10 61,249,660 (GRCm38) missense possibly damaging 0.78
R9326:Adamts14 UTSW 10 61,200,459 (GRCm38) missense probably benign 0.00
R9641:Adamts14 UTSW 10 61,271,050 (GRCm38) missense probably damaging 1.00
R9785:Adamts14 UTSW 10 61,213,648 (GRCm38) missense possibly damaging 0.83
Z1088:Adamts14 UTSW 10 61,218,445 (GRCm38) missense probably damaging 1.00
Z1177:Adamts14 UTSW 10 61,198,843 (GRCm38) 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