Incidental Mutation 'IGL03411:Adamts18'
| ID |
421808 |
| 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 # |
IGL03411
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
114423758-114575370 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 114490929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 513
(Q513*)
|
| 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: Q513*
|
| SMART Domains |
Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399
AA Change: Q513*
| 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: ENSMUST00000213061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213078
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,218,310 (GRCm39) |
I305T |
probably damaging |
Het |
| Adamts6 |
A |
G |
13: 104,450,842 (GRCm39) |
I342V |
possibly damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,582 (GRCm39) |
T216A |
possibly damaging |
Het |
| Coro1b |
A |
G |
19: 4,200,225 (GRCm39) |
|
probably benign |
Het |
| Cyp4a10 |
G |
A |
4: 115,382,890 (GRCm39) |
|
probably null |
Het |
| Cyp4x1 |
T |
A |
4: 114,965,982 (GRCm39) |
Q448L |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,430,916 (GRCm39) |
|
probably null |
Het |
| Exoc1 |
C |
A |
5: 76,690,042 (GRCm39) |
A194D |
probably damaging |
Het |
| Fastkd1 |
A |
C |
2: 69,537,703 (GRCm39) |
V293G |
probably damaging |
Het |
| Gm5773 |
T |
C |
3: 93,681,264 (GRCm39) |
L312P |
probably damaging |
Het |
| Hhla1 |
A |
G |
15: 65,802,078 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
A |
T |
2: 31,236,649 (GRCm39) |
E397D |
possibly damaging |
Het |
| Lig1 |
C |
T |
7: 13,030,694 (GRCm39) |
R449C |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,164,018 (GRCm39) |
T1189A |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,575,436 (GRCm39) |
M1397I |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,980,330 (GRCm39) |
E1484G |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,182,890 (GRCm39) |
I1019V |
probably benign |
Het |
| Nid1 |
T |
C |
13: 13,612,474 (GRCm39) |
L63P |
probably damaging |
Het |
| Ogfod3 |
A |
T |
11: 121,068,630 (GRCm39) |
*316R |
probably null |
Het |
| Or6z7 |
T |
C |
7: 6,483,435 (GRCm39) |
K240R |
probably benign |
Het |
| Pdpk1 |
A |
T |
17: 24,320,618 (GRCm39) |
V193E |
probably damaging |
Het |
| Phf3 |
G |
T |
1: 30,843,482 (GRCm39) |
P1826T |
probably damaging |
Het |
| Pnliprp2 |
A |
G |
19: 58,748,847 (GRCm39) |
I51V |
probably benign |
Het |
| Prpf4b |
C |
T |
13: 35,079,342 (GRCm39) |
L739F |
probably damaging |
Het |
| Rcbtb1 |
T |
A |
14: 59,447,419 (GRCm39) |
M1K |
probably null |
Het |
| Rin2 |
A |
G |
2: 145,702,864 (GRCm39) |
E520G |
probably damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Shpk |
A |
G |
11: 73,105,861 (GRCm39) |
T238A |
probably benign |
Het |
| Tmem132d |
A |
T |
5: 128,061,347 (GRCm39) |
Y418* |
probably null |
Het |
| Tpte |
T |
C |
8: 22,815,553 (GRCm39) |
V212A |
possibly damaging |
Het |
| Trim55 |
A |
T |
3: 19,713,354 (GRCm39) |
Y135F |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,598,456 (GRCm39) |
A19486T |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,708,340 (GRCm39) |
N22K |
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,577,368 (GRCm39) |
D390G |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,806,634 (GRCm39) |
E527G |
possibly damaging |
Het |
| Vps13d |
C |
T |
4: 144,875,894 (GRCm39) |
E1538K |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,793,462 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
A |
G |
8: 79,803,116 (GRCm39) |
S563G |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation