Incidental Mutation 'R4628:Adamts18'
| ID |
348965 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts18
|
| Ensembl Gene |
ENSMUSG00000053399 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 18 |
| Synonyms |
E130314N14Rik |
| MMRRC Submission |
041893-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R4628 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
114423758-114575370 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 114499800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 371
(W371*)
|
| 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: W371*
|
| SMART Domains |
Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399
AA Change: W371*
| 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 |
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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
T |
10: 79,851,022 (GRCm39) |
|
probably null |
Het |
| Abcb4 |
A |
G |
5: 8,957,399 (GRCm39) |
D176G |
probably benign |
Het |
| Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,292,989 (GRCm39) |
T815A |
probably benign |
Het |
| Arid3a |
T |
C |
10: 79,766,992 (GRCm39) |
S89P |
possibly damaging |
Het |
| Ass1 |
A |
T |
2: 31,371,000 (GRCm39) |
D63V |
probably damaging |
Het |
| Atxn3 |
T |
A |
12: 101,889,337 (GRCm39) |
|
probably benign |
Het |
| Bcap29 |
C |
T |
12: 31,676,806 (GRCm39) |
S88N |
probably benign |
Het |
| Bsn |
G |
T |
9: 107,990,434 (GRCm39) |
P1773T |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,890,024 (GRCm39) |
S423P |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,260,843 (GRCm39) |
L85Q |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,444,372 (GRCm39) |
R438G |
probably benign |
Het |
| Chd9 |
T |
A |
8: 91,710,091 (GRCm39) |
M289K |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,313,229 (GRCm39) |
Y26* |
probably null |
Het |
| Colec10 |
A |
G |
15: 54,323,127 (GRCm39) |
T117A |
possibly damaging |
Het |
| Colq |
C |
A |
14: 31,265,979 (GRCm39) |
G178V |
probably damaging |
Het |
| Defb3 |
A |
T |
8: 19,345,156 (GRCm39) |
R37S |
probably benign |
Het |
| Duox1 |
A |
G |
2: 122,176,733 (GRCm39) |
Y1418C |
probably damaging |
Het |
| Engase |
C |
T |
11: 118,375,731 (GRCm39) |
S33F |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,469,324 (GRCm39) |
T1259S |
probably damaging |
Het |
| Fam98c |
T |
C |
7: 28,854,693 (GRCm39) |
T49A |
possibly damaging |
Het |
| Fhod3 |
T |
A |
18: 25,253,186 (GRCm39) |
F1379I |
possibly damaging |
Het |
| Fndc3b |
T |
C |
3: 27,610,277 (GRCm39) |
I86V |
probably benign |
Het |
| Gm1123 |
A |
G |
9: 98,896,289 (GRCm39) |
V197A |
probably damaging |
Het |
| Gm4847 |
A |
T |
1: 166,457,964 (GRCm39) |
V463E |
probably damaging |
Het |
| Gm9772 |
T |
C |
17: 22,226,188 (GRCm39) |
K32R |
probably damaging |
Het |
| Gm9804 |
T |
C |
12: 49,448,540 (GRCm39) |
S161P |
unknown |
Het |
| Gpr162 |
C |
T |
6: 124,838,405 (GRCm39) |
D82N |
probably benign |
Het |
| Grid2ip |
T |
C |
5: 143,368,630 (GRCm39) |
V650A |
probably damaging |
Het |
| Hs1bp3 |
T |
C |
12: 8,386,357 (GRCm39) |
V253A |
probably benign |
Het |
| Hsd3b6 |
T |
G |
3: 98,713,895 (GRCm39) |
K135Q |
possibly damaging |
Het |
| Igfn1 |
T |
C |
1: 135,887,468 (GRCm39) |
D2532G |
possibly damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,899,837 (GRCm39) |
Y74H |
probably benign |
Het |
| Itga2 |
A |
G |
13: 115,014,229 (GRCm39) |
V233A |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,246,140 (GRCm39) |
|
probably benign |
Het |
| Kctd21 |
A |
G |
7: 96,996,782 (GRCm39) |
D85G |
probably damaging |
Het |
| Kera |
A |
G |
10: 97,445,493 (GRCm39) |
N284S |
probably benign |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Lcmt1 |
T |
A |
7: 123,010,035 (GRCm39) |
C183* |
probably null |
Het |
| Lcn5 |
A |
G |
2: 25,548,075 (GRCm39) |
E28G |
possibly damaging |
Het |
| Leo1 |
A |
T |
9: 75,352,979 (GRCm39) |
D174V |
probably damaging |
Het |
| Llgl1 |
A |
T |
11: 60,600,811 (GRCm39) |
T636S |
probably damaging |
Het |
| Lrrc8e |
T |
A |
8: 4,283,981 (GRCm39) |
C69S |
probably damaging |
Het |
| Maml3 |
A |
T |
3: 51,703,891 (GRCm39) |
|
probably benign |
Het |
| Maz |
G |
T |
7: 126,624,519 (GRCm39) |
H334N |
possibly damaging |
Het |
| Mcm6 |
T |
C |
1: 128,279,285 (GRCm39) |
D167G |
probably benign |
Het |
| Mrpl24 |
A |
C |
3: 87,829,436 (GRCm39) |
|
probably null |
Het |
| Myo18a |
G |
A |
11: 77,714,962 (GRCm39) |
V834M |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,198,362 (GRCm39) |
R461* |
probably null |
Het |
| Notch4 |
C |
A |
17: 34,789,159 (GRCm39) |
T486N |
probably damaging |
Het |
| Nphp3 |
A |
G |
9: 103,880,257 (GRCm39) |
E93G |
probably damaging |
Het |
| Nup188 |
A |
G |
2: 30,219,358 (GRCm39) |
Y858C |
probably damaging |
Het |
| Or13a17 |
T |
A |
7: 140,271,291 (GRCm39) |
S158T |
probably benign |
Het |
| Or13a28 |
C |
T |
7: 140,218,297 (GRCm39) |
R228C |
probably benign |
Het |
| Or1j11 |
T |
A |
2: 36,311,869 (GRCm39) |
L153* |
probably null |
Het |
| Otud4 |
T |
A |
8: 80,366,597 (GRCm39) |
D21E |
possibly damaging |
Het |
| Ovgp1 |
T |
A |
3: 105,887,639 (GRCm39) |
|
probably null |
Het |
| Pdia3 |
A |
T |
2: 121,244,620 (GRCm39) |
N11I |
possibly damaging |
Het |
| Pex5 |
T |
C |
6: 124,380,079 (GRCm39) |
D286G |
possibly damaging |
Het |
| Pias3 |
T |
C |
3: 96,607,136 (GRCm39) |
I133T |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,279,578 (GRCm39) |
D352G |
probably damaging |
Het |
| Prl7c1 |
T |
C |
13: 27,962,065 (GRCm39) |
R81G |
probably benign |
Het |
| Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
| Rtraf |
T |
A |
14: 19,867,155 (GRCm39) |
N116I |
probably benign |
Het |
| Semp2l2a |
T |
A |
8: 13,886,625 (GRCm39) |
R489W |
probably damaging |
Het |
| Slc6a12 |
T |
A |
6: 121,328,951 (GRCm39) |
C50* |
probably null |
Het |
| Spring1 |
G |
C |
5: 118,397,479 (GRCm39) |
A154P |
probably damaging |
Het |
| Srcin1 |
T |
A |
11: 97,439,752 (GRCm39) |
H126L |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,139,511 (GRCm39) |
S672T |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ube2c |
A |
G |
2: 164,614,093 (GRCm39) |
N143S |
possibly damaging |
Het |
| Uroc1 |
A |
T |
6: 90,332,310 (GRCm39) |
I556F |
probably damaging |
Het |
| Vmn1r124 |
T |
A |
7: 20,994,302 (GRCm39) |
K81* |
probably null |
Het |
| Vmn1r57 |
T |
A |
7: 5,223,972 (GRCm39) |
C166S |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r68 |
A |
G |
7: 84,883,673 (GRCm39) |
V144A |
probably benign |
Het |
| Vmn2r85 |
C |
T |
10: 130,261,235 (GRCm39) |
M367I |
probably benign |
Het |
| Vwa3a |
T |
A |
7: 120,392,598 (GRCm39) |
N812K |
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,824,515 (GRCm39) |
N1301K |
probably damaging |
Het |
| Zfhx4 |
G |
A |
3: 5,468,536 (GRCm39) |
R2898H |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGACTCAAAAGGGCCAC -3'
(R):5'- ATTGGTGCAGCTTAGCTCAGTG -3'
Sequencing Primer
(F):5'- CACATCCATCGGAAAGTTGTC -3'
(R):5'- TTTTTCCTACTGATAATTTCTCCGAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation