Incidental Mutation 'IGL02187:Adamts18'
| ID |
283694 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adamts18
|
| Ensembl Gene |
ENSMUSG00000053399 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 18 |
| Synonyms |
E130314N14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
IGL02187
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
114423758-114575370 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 114439826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 922
(E922D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093113]
[ENSMUST00000212665]
|
| AlphaFold |
Q4VC17 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093113
AA Change: E922D
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399
AA Change: E922D
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213076
|
| Coding Region Coverage |
|
| 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 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asxl3 |
T |
A |
18: 22,658,035 (GRCm39) |
M2015K |
probably damaging |
Het |
| C8a |
C |
A |
4: 104,719,933 (GRCm39) |
R15L |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,420,791 (GRCm39) |
V47A |
probably benign |
Het |
| Cdhr2 |
C |
T |
13: 54,881,523 (GRCm39) |
T1081I |
possibly damaging |
Het |
| Cenatac |
C |
T |
9: 44,322,084 (GRCm39) |
|
probably benign |
Het |
| Cep85 |
T |
A |
4: 133,858,616 (GRCm39) |
M752L |
possibly damaging |
Het |
| Cxcr3 |
T |
A |
X: 100,776,483 (GRCm39) |
S60C |
probably damaging |
Het |
| Cyp24a1 |
T |
A |
2: 170,336,013 (GRCm39) |
N208I |
probably damaging |
Het |
| Cyp2c38 |
A |
G |
19: 39,424,649 (GRCm39) |
I223T |
probably benign |
Het |
| Dennd6a |
A |
G |
14: 26,328,081 (GRCm39) |
I35V |
probably benign |
Het |
| Emb |
T |
G |
13: 117,405,507 (GRCm39) |
|
probably benign |
Het |
| Fbxo3 |
T |
C |
2: 103,858,295 (GRCm39) |
Y30H |
probably damaging |
Het |
| Fnbp1l |
G |
A |
3: 122,362,449 (GRCm39) |
R120* |
probably null |
Het |
| Galnt2 |
T |
C |
8: 125,032,245 (GRCm39) |
|
probably benign |
Het |
| Gckr |
T |
C |
5: 31,464,768 (GRCm39) |
|
probably benign |
Het |
| Gpr101 |
A |
G |
X: 56,546,841 (GRCm39) |
F103S |
probably damaging |
Het |
| Gprasp1 |
T |
A |
X: 134,699,912 (GRCm39) |
V35E |
probably damaging |
Het |
| Ift80 |
C |
A |
3: 68,892,789 (GRCm39) |
W133L |
probably damaging |
Het |
| Impdh1 |
C |
A |
6: 29,207,086 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
T |
C |
2: 119,275,938 (GRCm39) |
|
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,269,657 (GRCm39) |
|
probably null |
Het |
| Klhl20 |
C |
T |
1: 160,937,280 (GRCm39) |
V32I |
probably benign |
Het |
| Lrfn3 |
A |
G |
7: 30,055,389 (GRCm39) |
S519P |
probably damaging |
Het |
| Mrpl51 |
A |
G |
6: 125,170,294 (GRCm39) |
N100S |
probably benign |
Het |
| Mybpc3 |
T |
C |
2: 90,965,797 (GRCm39) |
I1203T |
probably benign |
Het |
| Nbr1 |
A |
G |
11: 101,460,185 (GRCm39) |
I394V |
possibly damaging |
Het |
| Nfasc |
G |
A |
1: 132,498,219 (GRCm39) |
T1155M |
probably damaging |
Het |
| Or7g34 |
T |
A |
9: 19,478,393 (GRCm39) |
T96S |
probably benign |
Het |
| Pan3 |
T |
C |
5: 147,463,398 (GRCm39) |
I440T |
probably benign |
Het |
| Patz1 |
T |
C |
11: 3,241,134 (GRCm39) |
L174P |
probably damaging |
Het |
| Paxx |
A |
G |
2: 25,350,668 (GRCm39) |
L62P |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,119,592 (GRCm39) |
S972P |
probably damaging |
Het |
| Ppp1r13b |
G |
T |
12: 111,801,472 (GRCm39) |
T404K |
probably damaging |
Het |
| Prkaa2 |
T |
C |
4: 104,904,363 (GRCm39) |
N238S |
probably benign |
Het |
| Prpf6 |
T |
C |
2: 181,257,809 (GRCm39) |
Y94H |
probably damaging |
Het |
| Rtn4 |
T |
C |
11: 29,658,291 (GRCm39) |
I815T |
possibly damaging |
Het |
| Slc44a5 |
A |
G |
3: 153,968,554 (GRCm39) |
T582A |
probably benign |
Het |
| Slitrk3 |
A |
G |
3: 72,957,605 (GRCm39) |
L389S |
probably damaging |
Het |
| Srp54b |
T |
A |
12: 55,299,560 (GRCm39) |
M297K |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zmym4 |
T |
A |
4: 126,764,066 (GRCm39) |
I1325L |
probably damaging |
Het |
| Zswim2 |
C |
A |
2: 83,753,982 (GRCm39) |
R226L |
probably damaging |
Het |
|
| Other mutations in Adamts18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation