Incidental Mutation 'R9422:Adamts18'
ID 712384
Institutional Source Beutler Lab
Gene Symbol Adamts18
Ensembl Gene ENSMUSG00000053399
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 18
Synonyms E130314N14Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R9422 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 114423758-114575370 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 114501910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 317 (Y317F)
Ref Sequence ENSEMBL: ENSMUSP00000090801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093113] [ENSMUST00000212665]
AlphaFold Q4VC17
Predicted Effect probably damaging
Transcript: ENSMUST00000093113
AA Change: Y317F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399
AA Change: Y317F

DomainStartEndE-ValueType
signal peptide 1 47 N/A INTRINSIC
Pfam:Pep_M12B_propep 63 203 3.4e-37 PFAM
Pfam:Reprolysin_5 292 473 1.3e-14 PFAM
Pfam:Reprolysin_4 294 494 2.6e-11 PFAM
Pfam:Reprolysin 294 498 2.7e-30 PFAM
Pfam:Reprolysin_2 311 488 1.7e-14 PFAM
Pfam:Reprolysin_3 315 447 1.5e-11 PFAM
TSP1 592 644 7.37e-17 SMART
Pfam:ADAM_spacer1 749 861 1.7e-38 PFAM
TSP1 878 932 1.55e-1 SMART
TSP1 934 992 5.07e-6 SMART
TSP1 994 1049 1.65e-5 SMART
TSP1 1055 1116 1.71e-3 SMART
TSP1 1125 1171 5.27e-4 SMART
Pfam:PLAC 1186 1216 1.2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212437
Predicted Effect probably benign
Transcript: ENSMUST00000212665
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (55/57)
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 motifs) protein family. ADAMTS family members 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 protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a floxed allele exhibit some fertility defects. Mice homozygous for a null allele exhibit growth and eye defects and increased susceptibility to chemically induced tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G A 16: 4,667,153 (GRCm39) V209I Het
Adgrg6 C T 10: 14,302,740 (GRCm39) R863H probably damaging Het
Aipl1 C T 11: 71,928,253 (GRCm39) G11D probably damaging Het
Ank2 C A 3: 126,890,505 (GRCm39) K55N unknown Het
B3galnt2 A G 13: 14,150,136 (GRCm39) T160A probably benign Het
Becn1 C A 11: 101,192,832 (GRCm39) probably benign Het
Ccdc57 T C 11: 120,764,444 (GRCm39) N777S possibly damaging Het
Cd302 T C 2: 60,082,697 (GRCm39) Y209C probably damaging Het
Cfap69 A G 5: 5,699,851 (GRCm39) V63A probably benign Het
Clasp1 T A 1: 118,390,257 (GRCm39) I147N possibly damaging Het
Cmtm3 A T 8: 105,067,358 (GRCm39) probably benign Het
Cmtm3 G T 8: 105,067,359 (GRCm39) probably benign Het
Col15a1 A T 4: 47,293,364 (GRCm39) probably null Het
Csn3 A G 5: 88,077,872 (GRCm39) N126S probably benign Het
Dcp2 C T 18: 44,538,361 (GRCm39) R173C probably damaging Het
Dctn1 T A 6: 83,170,691 (GRCm39) H729Q possibly damaging Het
Dop1a C T 9: 86,425,093 (GRCm39) H2138Y probably damaging Het
Fbxo2 T C 4: 148,248,616 (GRCm39) L36P unknown Het
Gzmg T A 14: 56,395,812 (GRCm39) Y49F probably benign Het
H2bc3 A G 13: 23,930,940 (GRCm39) I55V possibly damaging Het
Hivep1 A G 13: 42,313,213 (GRCm39) T1818A probably benign Het
Ipmk T C 10: 71,212,550 (GRCm39) S171P possibly damaging Het
Milr1 T A 11: 106,657,805 (GRCm39) Y239N probably damaging Het
Muc16 T C 9: 18,553,102 (GRCm39) N4397S probably benign Het
Nell1 C A 7: 49,712,387 (GRCm39) S69* probably null Het
Nme8 A G 13: 19,859,918 (GRCm39) V234A probably benign Het
Notch2 A G 3: 98,054,668 (GRCm39) S2444G probably damaging Het
Odad3 T A 9: 21,913,628 (GRCm39) H48L possibly damaging Het
Or5p75-ps1 A T 7: 108,108,155 (GRCm39) K297N unknown Het
Or7g35 T A 9: 19,495,968 (GRCm39) I45K probably damaging Het
Pex5l T C 3: 33,136,401 (GRCm39) probably benign Het
Pgm3 A T 9: 86,443,938 (GRCm39) L322H probably damaging Het
Plxna2 T A 1: 194,326,730 (GRCm39) F221L probably damaging Het
Pramel22 T A 4: 143,382,982 (GRCm39) K79M probably damaging Het
Prkaa2 A G 4: 104,909,195 (GRCm39) I83T probably benign Het
R3hdml A G 2: 163,334,526 (GRCm39) T39A probably benign Het
Ralgds A G 2: 28,435,184 (GRCm39) M447V probably benign Het
Rgs2 T C 1: 143,878,783 (GRCm39) D40G probably damaging Het
Robo3 T C 9: 37,329,789 (GRCm39) M1176V probably benign Het
Rpap1 G A 2: 119,613,519 (GRCm39) probably benign Het
Skic3 A T 13: 76,278,447 (GRCm39) probably benign Het
Slc26a8 T C 17: 28,857,560 (GRCm39) D861G possibly damaging Het
Slc4a8 A T 15: 100,698,469 (GRCm39) I705F probably benign Het
Slco3a1 C T 7: 73,946,996 (GRCm39) V576I probably damaging Het
Socs7 A G 11: 97,253,973 (GRCm39) D169G possibly damaging Het
Tanc1 T C 2: 59,637,933 (GRCm39) V878A probably benign Het
Thop1 C T 10: 80,916,001 (GRCm39) R395W probably damaging Het
Tpp2 T A 1: 44,017,897 (GRCm39) H765Q probably benign Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Vmn1r233 T A 17: 21,214,069 (GRCm39) M294L possibly damaging Het
Vmn1r27 T C 6: 58,192,867 (GRCm39) T46A probably benign Het
Vmn2r28 A G 7: 5,483,747 (GRCm39) S818P probably damaging Het
Vmn2r97 T A 17: 19,149,333 (GRCm39) N240K probably benign Het
Zfhx3 C T 8: 109,430,850 (GRCm39) probably benign Het
Zfp667 A G 7: 6,308,321 (GRCm39) M330V probably benign Het
Zhx1 T C 15: 57,916,071 (GRCm39) Y725C probably damaging Het
Zhx3 C T 2: 160,624,020 (GRCm39) S49N probably benign Het
Other mutations in Adamts18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01290:Adamts18 APN 8 114,501,575 (GRCm39) missense probably damaging 1.00
IGL01548:Adamts18 APN 8 114,490,931 (GRCm39) missense probably damaging 1.00
IGL01556:Adamts18 APN 8 114,571,741 (GRCm39) missense probably benign 0.01
IGL01833:Adamts18 APN 8 114,469,728 (GRCm39) missense probably benign 0.10
IGL02187:Adamts18 APN 8 114,439,826 (GRCm39) missense possibly damaging 0.93
IGL02551:Adamts18 APN 8 114,425,704 (GRCm39) missense probably damaging 1.00
IGL02756:Adamts18 APN 8 114,440,976 (GRCm39) splice site probably benign
IGL03188:Adamts18 APN 8 114,425,656 (GRCm39) missense probably damaging 1.00
IGL03411:Adamts18 APN 8 114,490,929 (GRCm39) nonsense probably null
G1patch:Adamts18 UTSW 8 114,469,833 (GRCm39) missense probably damaging 1.00
R0119:Adamts18 UTSW 8 114,501,585 (GRCm39) missense possibly damaging 0.94
R0378:Adamts18 UTSW 8 114,469,749 (GRCm39) missense probably damaging 1.00
R0410:Adamts18 UTSW 8 114,440,990 (GRCm39) nonsense probably null
R0480:Adamts18 UTSW 8 114,465,450 (GRCm39) missense possibly damaging 0.93
R0514:Adamts18 UTSW 8 114,465,401 (GRCm39) splice site probably null
R0924:Adamts18 UTSW 8 114,432,028 (GRCm39) splice site probably null
R0930:Adamts18 UTSW 8 114,432,028 (GRCm39) splice site probably null
R1333:Adamts18 UTSW 8 114,431,805 (GRCm39) splice site probably benign
R1441:Adamts18 UTSW 8 114,481,194 (GRCm39) critical splice donor site probably null
R2082:Adamts18 UTSW 8 114,501,965 (GRCm39) missense probably damaging 1.00
R2146:Adamts18 UTSW 8 114,571,635 (GRCm39) missense possibly damaging 0.58
R2371:Adamts18 UTSW 8 114,431,893 (GRCm39) missense probably benign 0.36
R3148:Adamts18 UTSW 8 114,465,490 (GRCm39) missense probably damaging 1.00
R3963:Adamts18 UTSW 8 114,504,443 (GRCm39) missense probably benign 0.00
R4056:Adamts18 UTSW 8 114,464,212 (GRCm39) nonsense probably null
R4486:Adamts18 UTSW 8 114,439,825 (GRCm39) missense probably benign 0.00
R4608:Adamts18 UTSW 8 114,464,245 (GRCm39) missense probably damaging 1.00
R4624:Adamts18 UTSW 8 114,499,800 (GRCm39) nonsense probably null
R4626:Adamts18 UTSW 8 114,499,800 (GRCm39) nonsense probably null
R4627:Adamts18 UTSW 8 114,499,800 (GRCm39) nonsense probably null
R4628:Adamts18 UTSW 8 114,499,800 (GRCm39) nonsense probably null
R4629:Adamts18 UTSW 8 114,499,800 (GRCm39) nonsense probably null
R4710:Adamts18 UTSW 8 114,433,558 (GRCm39) missense probably damaging 0.98
R4959:Adamts18 UTSW 8 114,463,357 (GRCm39) nonsense probably null
R4973:Adamts18 UTSW 8 114,463,357 (GRCm39) nonsense probably null
R4976:Adamts18 UTSW 8 114,425,642 (GRCm39) missense probably benign 0.31
R5119:Adamts18 UTSW 8 114,425,642 (GRCm39) missense probably benign 0.31
R5141:Adamts18 UTSW 8 114,501,902 (GRCm39) missense probably damaging 1.00
R5422:Adamts18 UTSW 8 114,425,606 (GRCm39) missense probably benign 0.06
R5587:Adamts18 UTSW 8 114,501,992 (GRCm39) nonsense probably null
R5868:Adamts18 UTSW 8 114,504,380 (GRCm39) missense possibly damaging 0.69
R5893:Adamts18 UTSW 8 114,499,709 (GRCm39) missense probably damaging 1.00
R5906:Adamts18 UTSW 8 114,436,251 (GRCm39) missense probably benign 0.00
R5942:Adamts18 UTSW 8 114,504,380 (GRCm39) missense probably benign 0.01
R6006:Adamts18 UTSW 8 114,433,606 (GRCm39) missense probably damaging 1.00
R6608:Adamts18 UTSW 8 114,501,911 (GRCm39) missense probably damaging 1.00
R6725:Adamts18 UTSW 8 114,469,833 (GRCm39) missense probably damaging 1.00
R7002:Adamts18 UTSW 8 114,501,922 (GRCm39) missense possibly damaging 0.69
R7276:Adamts18 UTSW 8 114,501,896 (GRCm39) missense probably damaging 0.99
R7292:Adamts18 UTSW 8 114,436,277 (GRCm39) missense probably benign 0.00
R7411:Adamts18 UTSW 8 114,504,362 (GRCm39) missense probably damaging 0.99
R7685:Adamts18 UTSW 8 114,439,855 (GRCm39) missense probably damaging 1.00
R7737:Adamts18 UTSW 8 114,463,566 (GRCm39) splice site probably null
R7860:Adamts18 UTSW 8 114,501,908 (GRCm39) missense probably damaging 1.00
R7936:Adamts18 UTSW 8 114,493,760 (GRCm39) missense probably damaging 1.00
R8197:Adamts18 UTSW 8 114,481,227 (GRCm39) missense probably damaging 1.00
R8363:Adamts18 UTSW 8 114,493,795 (GRCm39) missense probably damaging 1.00
R8759:Adamts18 UTSW 8 114,433,624 (GRCm39) missense probably damaging 1.00
R8934:Adamts18 UTSW 8 114,463,510 (GRCm39) missense possibly damaging 0.90
R9405:Adamts18 UTSW 8 114,430,030 (GRCm39) missense probably damaging 1.00
R9450:Adamts18 UTSW 8 114,490,942 (GRCm39) missense probably benign 0.10
R9475:Adamts18 UTSW 8 114,504,570 (GRCm39) missense possibly damaging 0.93
Z1088:Adamts18 UTSW 8 114,502,072 (GRCm39) missense possibly damaging 0.86
Z1176:Adamts18 UTSW 8 114,469,800 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- TGTAGGTTTCAATCTTACCAGACTC -3'
(R):5'- TCTCAGCCTATGTCACCCAG -3'

Sequencing Primer
(F):5'- GGTTTCAATCTTACCAGACTCAAAAG -3'
(R):5'- AGCCTATGTCACCCAGATTTTG -3'
Posted On 2022-05-16