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)
|
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*
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 |
0.9711 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |