Incidental Mutation 'R0410:Adamts18'
ID |
36590 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamts18
|
Ensembl Gene |
ENSMUSG00000053399 |
Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 18 |
Synonyms |
E130314N14Rik |
MMRRC Submission |
038612-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
R0410 (G1)
|
Quality Score |
213 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
114423758-114575370 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 114440990 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 889
(C889*)
|
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: C889*
|
SMART Domains |
Protein: ENSMUSP00000090801 Gene: ENSMUSG00000053399 AA Change: C889*
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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
A |
G |
13: 119,606,268 (GRCm39) |
D170G |
probably benign |
Het |
Actrt3 |
C |
T |
3: 30,652,273 (GRCm39) |
G274S |
probably benign |
Het |
Alkbh6 |
C |
T |
7: 30,012,031 (GRCm39) |
P104S |
probably damaging |
Het |
Alms1 |
A |
T |
6: 85,564,785 (GRCm39) |
E53V |
unknown |
Het |
Ap3s1 |
T |
C |
18: 46,912,279 (GRCm39) |
C100R |
probably benign |
Het |
Apbb2 |
G |
T |
5: 66,609,149 (GRCm39) |
A166E |
possibly damaging |
Het |
Asph |
A |
G |
4: 9,595,415 (GRCm39) |
V174A |
probably damaging |
Het |
Cacna2d2 |
T |
C |
9: 107,401,819 (GRCm39) |
L758P |
probably damaging |
Het |
Cacng5 |
A |
G |
11: 107,768,195 (GRCm39) |
S271P |
possibly damaging |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Chn1 |
A |
T |
2: 73,462,094 (GRCm39) |
C236* |
probably null |
Het |
Coro1b |
T |
C |
19: 4,199,362 (GRCm39) |
V7A |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,201,859 (GRCm39) |
Y962C |
probably damaging |
Het |
Dixdc1 |
T |
C |
9: 50,596,153 (GRCm39) |
D152G |
probably damaging |
Het |
Dmrt1 |
T |
C |
19: 25,483,467 (GRCm39) |
S84P |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,832,799 (GRCm39) |
D844G |
probably benign |
Het |
Edn3 |
C |
T |
2: 174,603,482 (GRCm39) |
P77S |
possibly damaging |
Het |
Efcab7 |
T |
C |
4: 99,735,487 (GRCm39) |
|
probably null |
Het |
Fam83g |
A |
G |
11: 61,594,218 (GRCm39) |
D584G |
probably damaging |
Het |
Fbxo7 |
T |
A |
10: 85,865,102 (GRCm39) |
|
probably null |
Het |
Ffar1 |
T |
C |
7: 30,560,055 (GRCm39) |
T281A |
probably benign |
Het |
Fntb |
T |
C |
12: 76,934,826 (GRCm39) |
V201A |
probably benign |
Het |
Gart |
C |
A |
16: 91,438,215 (GRCm39) |
A101S |
probably damaging |
Het |
Gbp9 |
T |
C |
5: 105,232,939 (GRCm39) |
T238A |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,424,329 (GRCm39) |
L663S |
possibly damaging |
Het |
Helz2 |
A |
T |
2: 180,872,386 (GRCm39) |
V2512E |
probably damaging |
Het |
Hip1 |
A |
C |
5: 135,487,009 (GRCm39) |
L66R |
probably damaging |
Het |
Iigp1 |
T |
A |
18: 60,523,375 (GRCm39) |
D164E |
probably benign |
Het |
Kcnip3 |
A |
G |
2: 127,301,986 (GRCm39) |
S193P |
probably damaging |
Het |
Klra9 |
T |
A |
6: 130,165,707 (GRCm39) |
T103S |
probably benign |
Het |
Meis2 |
T |
C |
2: 115,694,709 (GRCm39) |
*471W |
probably null |
Het |
Minar1 |
T |
G |
9: 89,484,256 (GRCm39) |
E380D |
probably damaging |
Het |
Mrpl21 |
T |
C |
19: 3,334,792 (GRCm39) |
S45P |
possibly damaging |
Het |
Mterf1b |
A |
G |
5: 4,246,488 (GRCm39) |
E43G |
probably benign |
Het |
Mycbp2 |
G |
T |
14: 103,372,569 (GRCm39) |
S4092R |
probably damaging |
Het |
Nfatc3 |
A |
T |
8: 106,822,828 (GRCm39) |
N538I |
probably damaging |
Het |
Nphp4 |
T |
C |
4: 152,641,503 (GRCm39) |
C1095R |
probably benign |
Het |
Npm2 |
T |
A |
14: 70,889,993 (GRCm39) |
T13S |
probably benign |
Het |
Or1m1 |
C |
A |
9: 18,666,137 (GRCm39) |
V265F |
probably damaging |
Het |
Or7e176 |
T |
A |
9: 20,171,797 (GRCm39) |
F220L |
probably benign |
Het |
Plcg2 |
A |
T |
8: 118,342,112 (GRCm39) |
I1158F |
probably damaging |
Het |
Popdc3 |
T |
C |
10: 45,193,829 (GRCm39) |
V210A |
possibly damaging |
Het |
Postn |
T |
C |
3: 54,292,698 (GRCm39) |
L755S |
possibly damaging |
Het |
Prdx6b |
T |
C |
2: 80,123,373 (GRCm39) |
F61L |
probably damaging |
Het |
Rars1 |
C |
T |
11: 35,716,847 (GRCm39) |
R223H |
probably damaging |
Het |
Robo1 |
G |
A |
16: 72,768,872 (GRCm39) |
G479D |
possibly damaging |
Het |
Scaf4 |
A |
G |
16: 90,057,058 (GRCm39) |
Y98H |
unknown |
Het |
Scn4a |
A |
G |
11: 106,214,775 (GRCm39) |
I1274T |
probably damaging |
Het |
Senp2 |
G |
T |
16: 21,828,444 (GRCm39) |
R18L |
probably damaging |
Het |
Six5 |
T |
A |
7: 18,830,381 (GRCm39) |
V336D |
probably damaging |
Het |
Slc31a2 |
G |
A |
4: 62,210,890 (GRCm39) |
E8K |
probably benign |
Het |
Slc4a7 |
A |
T |
14: 14,738,299 (GRCm38) |
T184S |
probably damaging |
Het |
Slco2a1 |
T |
A |
9: 102,950,513 (GRCm39) |
|
probably null |
Het |
Smr3a |
T |
G |
5: 88,156,070 (GRCm39) |
|
probably benign |
Het |
Sqor |
T |
C |
2: 122,629,442 (GRCm39) |
V100A |
probably benign |
Het |
Srarp |
T |
C |
4: 141,160,459 (GRCm39) |
N125D |
possibly damaging |
Het |
Stam |
T |
C |
2: 14,143,802 (GRCm39) |
V364A |
probably benign |
Het |
Tgm5 |
T |
C |
2: 120,908,039 (GRCm39) |
I46V |
possibly damaging |
Het |
Tie1 |
A |
T |
4: 118,337,766 (GRCm39) |
V443E |
probably damaging |
Het |
Tipin |
T |
C |
9: 64,195,397 (GRCm39) |
M1T |
probably null |
Het |
Tnc |
T |
C |
4: 63,925,931 (GRCm39) |
T950A |
probably benign |
Het |
Tns3 |
T |
C |
11: 8,385,852 (GRCm39) |
D1382G |
probably benign |
Het |
Tor1aip1 |
A |
G |
1: 155,911,686 (GRCm39) |
V99A |
possibly damaging |
Het |
Trim16 |
C |
T |
11: 62,711,297 (GRCm39) |
|
probably benign |
Het |
Ttn |
G |
T |
2: 76,618,701 (GRCm39) |
N14448K |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,717,204 (GRCm39) |
|
probably benign |
Het |
Tut4 |
A |
G |
4: 108,343,752 (GRCm39) |
R255G |
probably benign |
Het |
Vmn1r23 |
A |
G |
6: 57,903,175 (GRCm39) |
I201T |
probably benign |
Het |
Vmn2r13 |
T |
A |
5: 109,321,679 (GRCm39) |
K339N |
probably benign |
Het |
Yap1 |
A |
G |
9: 8,001,468 (GRCm39) |
Y173H |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCAGATAGGGAGCATGGCTTGAC -3'
(R):5'- CAACAAGGTTTGTGCAGTCTGGC -3'
Sequencing Primer
(F):5'- TTCCCCTTGAAACAGCATCTGAG -3'
(R):5'- CGCTTGGAAGTATGCACTTC -3'
|
Posted On |
2013-05-09 |