Incidental Mutation 'R5587:Adamts18'
ID 438822
Institutional Source Beutler Lab
Gene Symbol Adamts18
Ensembl Gene ENSMUSG00000053399
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif 18
Synonyms E130314N14Rik
MMRRC Submission 043141-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R5587 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 114423758-114575370 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 114501992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 290 (Q290*)
Ref Sequence ENSEMBL: ENSMUSP00000090801 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093113] [ENSMUST00000212665]
AlphaFold Q4VC17
Predicted Effect probably null
Transcript: ENSMUST00000093113
AA Change: Q290*
SMART Domains Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399
AA Change: Q290*

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 noncoding transcript
Transcript: ENSMUST00000212527
Predicted Effect probably benign
Transcript: ENSMUST00000212665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213078
Meta Mutation Damage Score 0.9711 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 96% (78/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,771,170 (GRCm39) R120G probably benign Het
Acad11 A G 9: 103,940,966 (GRCm39) T3A probably benign Het
Ahnak A G 19: 8,986,840 (GRCm39) D2708G possibly damaging Het
Asxl3 T A 18: 22,658,304 (GRCm39) C2105S probably benign Het
Atp8b1 A T 18: 64,672,281 (GRCm39) F1028I probably damaging Het
Axdnd1 C G 1: 156,178,982 (GRCm39) W615C probably damaging Het
Bcl3 A T 7: 19,543,559 (GRCm39) Y10* probably null Het
Bmp2 T A 2: 133,396,566 (GRCm39) V74E possibly damaging Het
Ccdc121 G T 5: 31,643,428 (GRCm39) G53W probably benign Het
Ccdc78 C A 17: 26,005,651 (GRCm39) P21Q probably benign Het
Cluap1 T A 16: 3,733,348 (GRCm39) V199E probably damaging Het
Cntnap3 T C 13: 64,894,552 (GRCm39) E1120G probably damaging Het
Col1a2 T A 6: 4,540,531 (GRCm39) W1330R unknown Het
Coq4 A G 2: 29,685,526 (GRCm39) probably null Het
Cwf19l1 G A 19: 44,109,316 (GRCm39) T346I possibly damaging Het
Cyct T C 2: 76,184,547 (GRCm39) Y68C probably damaging Het
Dnah10 T C 5: 124,870,977 (GRCm39) L2368P probably benign Het
Dnah2 A T 11: 69,328,068 (GRCm39) F3346I probably damaging Het
Dpp3 A T 19: 4,968,295 (GRCm39) V259E probably damaging Het
Dpyd A C 3: 118,858,600 (GRCm39) S605R probably damaging Het
Emc1 A G 4: 139,089,459 (GRCm39) E209G probably damaging Het
Esrra A G 19: 6,897,575 (GRCm39) S61P probably benign Het
Garin2 C A 12: 78,761,849 (GRCm39) P171H probably damaging Het
Gbx2 T A 1: 89,860,844 (GRCm39) probably benign Het
Hepacam A G 9: 37,295,980 (GRCm39) H377R probably damaging Het
Igkv12-46 T C 6: 69,741,534 (GRCm39) Y107C probably damaging Het
Intu A G 3: 40,629,738 (GRCm39) D356G probably damaging Het
Izumo4 A T 10: 80,539,054 (GRCm39) N113Y probably damaging Het
Krt86 G A 15: 101,371,474 (GRCm39) A15T probably benign Het
Lhx8 A T 3: 154,017,316 (GRCm39) S275R probably damaging Het
Lingo3 A T 10: 80,671,364 (GRCm39) S189T probably damaging Het
Llgl1 T A 11: 60,601,168 (GRCm39) M702K probably benign Het
Lpin1 T C 12: 16,623,715 (GRCm39) Y223C Het
Lrit3 G T 3: 129,582,547 (GRCm39) A359E probably benign Het
Lrp2 T C 2: 69,329,607 (GRCm39) E1720G probably benign Het
Mcub A C 3: 129,710,619 (GRCm39) V271G probably benign Het
Nktr C T 9: 121,577,555 (GRCm39) probably benign Het
Or10g9 A T 9: 39,911,917 (GRCm39) I202N possibly damaging Het
Or13p4 T A 4: 118,547,067 (GRCm39) D194V probably damaging Het
Or1j18 A T 2: 36,624,633 (GRCm39) Q100L probably damaging Het
Or4d5 A T 9: 40,012,540 (GRCm39) L82Q probably damaging Het
Or52z12 T A 7: 103,233,738 (GRCm39) Y170N probably benign Het
Or9i1 G A 19: 13,839,940 (GRCm39) R261H probably damaging Het
Pcdha4 T C 18: 37,087,875 (GRCm39) V686A probably benign Het
Pelo A G 13: 115,226,409 (GRCm39) V16A possibly damaging Het
Plcd1 A G 9: 118,902,900 (GRCm39) S539P probably benign Het
Prss1 A G 6: 41,440,199 (GRCm39) I179V possibly damaging Het
Ptgs2 T C 1: 149,981,306 (GRCm39) Y530H probably damaging Het
Rai1 T C 11: 60,080,685 (GRCm39) V1583A probably damaging Het
Raph1 T G 1: 60,537,632 (GRCm39) D508A probably damaging Het
Rmnd5a A G 6: 71,371,603 (GRCm39) probably benign Het
Rsf1 T C 7: 97,311,328 (GRCm39) L686P probably benign Het
Samd9l T C 6: 3,373,291 (GRCm39) I1323M possibly damaging Het
Scn1a T C 2: 66,103,425 (GRCm39) N1934S probably benign Het
Sec23ip C T 7: 128,352,151 (GRCm39) H176Y probably benign Het
Sh3glb2 A G 2: 30,244,863 (GRCm39) probably null Het
Sis A G 3: 72,821,909 (GRCm39) I1384T possibly damaging Het
Spata31d1a A C 13: 59,850,432 (GRCm39) C565W probably damaging Het
Srbd1 T A 17: 86,435,229 (GRCm39) Q278L probably damaging Het
Sry T C Y: 2,662,625 (GRCm39) H345R unknown Het
Suox A T 10: 128,507,694 (GRCm39) D111E probably damaging Het
Taar7a A T 10: 23,868,726 (GRCm39) F218L probably benign Het
Tfcp2l1 C A 1: 118,592,492 (GRCm39) N288K possibly damaging Het
Tmem128 G T 5: 38,417,765 (GRCm39) R7L possibly damaging Het
Tmem266 A G 9: 55,344,850 (GRCm39) N494S probably damaging Het
Tmprss3 T A 17: 31,412,966 (GRCm39) H80L probably benign Het
Tnrc6c C T 11: 117,640,097 (GRCm39) Q1211* probably null Het
Tns1 T A 1: 73,959,755 (GRCm39) D1671V possibly damaging Het
Trmt1l T A 1: 151,311,455 (GRCm39) probably benign Het
Tshz2 A T 2: 169,726,262 (GRCm39) D286V probably damaging Het
Ttyh2 A G 11: 114,566,485 (GRCm39) E39G probably benign Het
Vmn2r125 G A 4: 156,702,433 (GRCm39) C73Y probably damaging Het
Vmn2r5 T C 3: 64,411,497 (GRCm39) D357G probably damaging Het
Vmn2r61 T C 7: 41,949,911 (GRCm39) F777S probably damaging Het
Vmn2r9 T C 5: 108,995,427 (GRCm39) E407G probably damaging Het
Vwa3a A G 7: 120,379,458 (GRCm39) N521S probably damaging Het
Zan C G 5: 137,390,024 (GRCm39) S4816T unknown Het
Zc3h7b T C 15: 81,656,059 (GRCm39) Y136H possibly damaging Het
Zfp101 T C 17: 33,600,295 (GRCm39) K487R possibly damaging 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
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
R9422:Adamts18 UTSW 8 114,501,910 (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'- GCCATTTCATCCATACCAGGAAATC -3'
(R):5'- AAATCTCAGGTGCAAAGCCC -3'

Sequencing Primer
(F):5'- ACCAGGAAATCTTTGTCTTAGGG -3'
(R):5'- CCAGGGCAGGTGACAAC -3'
Posted On 2016-10-26