Incidental Mutation 'R4629:Adamts18'
| ID |
349050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts18
|
| Ensembl Gene |
ENSMUSG00000053399 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 18 |
| Synonyms |
E130314N14Rik |
| MMRRC Submission |
041894-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R4629 (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: 95.4%
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
T |
C |
9: 114,108,419 (GRCm39) |
|
noncoding transcript |
Het |
| Abca6 |
T |
C |
11: 110,121,375 (GRCm39) |
|
probably null |
Het |
| Adam22 |
A |
G |
5: 8,282,663 (GRCm39) |
S111P |
possibly damaging |
Het |
| Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
| Alg10b |
C |
T |
15: 90,111,948 (GRCm39) |
A264V |
probably benign |
Het |
| Angpt1 |
T |
A |
15: 42,301,796 (GRCm39) |
Y404F |
probably benign |
Het |
| Apol7c |
A |
G |
15: 77,410,595 (GRCm39) |
F117S |
probably damaging |
Het |
| Asic5 |
T |
A |
3: 81,913,811 (GRCm39) |
Y162N |
probably damaging |
Het |
| Cacna2d2 |
A |
T |
9: 107,404,521 (GRCm39) |
E1104V |
probably damaging |
Het |
| Cad |
G |
A |
5: 31,227,639 (GRCm39) |
V1263I |
probably damaging |
Het |
| Cdc20 |
T |
C |
4: 118,290,761 (GRCm39) |
E413G |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,260,843 (GRCm39) |
L85Q |
probably damaging |
Het |
| Cnot6l |
A |
G |
5: 96,225,070 (GRCm39) |
V541A |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,318,790 (GRCm39) |
|
probably null |
Het |
| Cx3cr1 |
T |
C |
9: 119,880,730 (GRCm39) |
N224S |
probably damaging |
Het |
| Fam98c |
T |
C |
7: 28,854,693 (GRCm39) |
T49A |
possibly damaging |
Het |
| Fez2 |
C |
T |
17: 78,710,183 (GRCm39) |
S202N |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,924,593 (GRCm39) |
N3678S |
probably benign |
Het |
| Glyr1 |
A |
G |
16: 4,854,907 (GRCm39) |
V57A |
possibly damaging |
Het |
| Gm5617 |
T |
A |
9: 48,407,187 (GRCm39) |
L107Q |
possibly damaging |
Het |
| Gpnmb |
A |
G |
6: 49,027,994 (GRCm39) |
D401G |
possibly damaging |
Het |
| Gtpbp6 |
C |
A |
5: 110,254,774 (GRCm39) |
V100L |
possibly damaging |
Het |
| Gucy1a1 |
A |
G |
3: 82,004,931 (GRCm39) |
V618A |
probably damaging |
Het |
| H6pd |
A |
T |
4: 150,080,803 (GRCm39) |
M14K |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,435,266 (GRCm39) |
M993V |
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 |
| Lama1 |
A |
G |
17: 68,112,355 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
T |
C |
1: 135,032,670 (GRCm39) |
Y70C |
probably damaging |
Het |
| Lipg |
T |
A |
18: 75,081,107 (GRCm39) |
K325* |
probably null |
Het |
| Lrrc43 |
T |
C |
5: 123,637,583 (GRCm39) |
L250P |
probably damaging |
Het |
| Lyz1 |
C |
T |
10: 117,127,041 (GRCm39) |
R65H |
probably benign |
Het |
| Marchf10 |
T |
A |
11: 105,280,664 (GRCm39) |
L540F |
probably benign |
Het |
| Maz |
G |
T |
7: 126,624,519 (GRCm39) |
H334N |
possibly damaging |
Het |
| Myh1 |
A |
G |
11: 67,100,119 (GRCm39) |
K646R |
probably benign |
Het |
| Nf2 |
A |
T |
11: 4,798,915 (GRCm39) |
V24E |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,075,182 (GRCm39) |
S831P |
probably benign |
Het |
| Nup210l |
C |
T |
3: 90,098,181 (GRCm39) |
R1378* |
probably null |
Het |
| Or13a17 |
T |
A |
7: 140,271,291 (GRCm39) |
S158T |
probably benign |
Het |
| Orc5 |
G |
T |
5: 22,753,003 (GRCm39) |
F10L |
probably benign |
Het |
| Palb2 |
A |
C |
7: 121,727,189 (GRCm39) |
I227S |
possibly damaging |
Het |
| Pate3 |
A |
T |
9: 35,557,453 (GRCm39) |
C68S |
probably damaging |
Het |
| Pcdha12 |
T |
A |
18: 37,154,926 (GRCm39) |
N548K |
probably damaging |
Het |
| Prdm10 |
C |
T |
9: 31,248,612 (GRCm39) |
Q345* |
probably null |
Het |
| Ptx4 |
A |
T |
17: 25,341,737 (GRCm39) |
N71Y |
probably damaging |
Het |
| Rab42 |
C |
T |
4: 132,030,548 (GRCm39) |
R34Q |
probably benign |
Het |
| Rergl |
A |
G |
6: 139,478,850 (GRCm39) |
V8A |
probably damaging |
Het |
| Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
| Rpia |
A |
G |
6: 70,743,578 (GRCm39) |
M291T |
possibly damaging |
Het |
| Rplp0 |
G |
A |
5: 115,699,482 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
A |
T |
19: 41,871,955 (GRCm39) |
I443N |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Saxo1 |
T |
C |
4: 86,406,064 (GRCm39) |
Y45C |
probably damaging |
Het |
| Sec24a |
A |
T |
11: 51,612,640 (GRCm39) |
|
probably null |
Het |
| Setdb2 |
A |
G |
14: 59,646,808 (GRCm39) |
V585A |
probably benign |
Het |
| Sik1 |
T |
C |
17: 32,068,581 (GRCm39) |
E347G |
probably benign |
Het |
| Srbd1 |
T |
C |
17: 86,428,100 (GRCm39) |
T378A |
probably damaging |
Het |
| Tacr1 |
A |
G |
6: 82,380,861 (GRCm39) |
T91A |
probably benign |
Het |
| Tas2r135 |
T |
A |
6: 42,383,160 (GRCm39) |
M233K |
probably benign |
Het |
| Tfg |
A |
T |
16: 56,533,039 (GRCm39) |
M40K |
probably damaging |
Het |
| Tmem35b |
C |
T |
4: 127,022,796 (GRCm39) |
P133S |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,139,511 (GRCm39) |
S672T |
probably benign |
Het |
| Trpv3 |
A |
T |
11: 73,172,615 (GRCm39) |
K253N |
probably damaging |
Het |
| Ube2c |
A |
G |
2: 164,614,093 (GRCm39) |
N143S |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,106,097 (GRCm39) |
M669T |
possibly damaging |
Het |
| Vmn1r61 |
T |
A |
7: 5,614,249 (GRCm39) |
I22F |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,150 (GRCm39) |
Q575L |
possibly damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,103,276 (GRCm39) |
E156D |
probably damaging |
Het |
| Vwa3a |
T |
A |
7: 120,392,598 (GRCm39) |
N812K |
probably benign |
Het |
| Wasl |
T |
C |
6: 24,637,680 (GRCm39) |
R71G |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,824,515 (GRCm39) |
N1301K |
probably damaging |
Het |
| Zfp827 |
G |
A |
8: 79,787,011 (GRCm39) |
R59Q |
probably damaging |
Het |
| Zfp87 |
A |
G |
13: 74,520,512 (GRCm39) |
C189R |
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 |
|
|
R4628: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'- TTGATGAGACTCAAAAGGGCC -3'
(R):5'- ATTGGTGCAGCTTAGCTCAGTG -3'
Sequencing Primer
(F):5'- CACACATCCATCGGAAAGTTGTC -3'
(R):5'- TTTTTCCTACTGATAATTTCTCCGAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation