Incidental Mutation 'R4626:Adamts18'
ID |
348787 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamts18
|
Ensembl Gene |
ENSMUSG00000053399 |
Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 18 |
Synonyms |
E130314N14Rik |
MMRRC Submission |
041891-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.127)
|
Stock # |
R4626 (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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
A |
C |
11: 84,313,784 (GRCm39) |
*527G |
probably null |
Het |
Abca17 |
A |
T |
17: 24,540,058 (GRCm39) |
I390N |
probably damaging |
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 |
Ankrd49 |
A |
C |
9: 14,693,936 (GRCm39) |
L77R |
probably damaging |
Het |
Ap3b1 |
T |
A |
13: 94,540,586 (GRCm39) |
N169K |
possibly damaging |
Het |
Arhgap39 |
A |
C |
15: 76,621,837 (GRCm39) |
F255V |
possibly damaging |
Het |
Atp1a3 |
T |
A |
7: 24,698,193 (GRCm39) |
N171I |
possibly damaging |
Het |
Atp9a |
T |
C |
2: 168,481,863 (GRCm39) |
D953G |
probably damaging |
Het |
Atxn1 |
T |
C |
13: 45,720,575 (GRCm39) |
Y440C |
probably damaging |
Het |
Bccip |
T |
C |
7: 133,322,457 (GRCm39) |
Y268H |
possibly damaging |
Het |
Brms1l |
C |
A |
12: 55,909,958 (GRCm39) |
P243T |
probably benign |
Het |
Btbd10 |
T |
C |
7: 112,927,605 (GRCm39) |
E250G |
probably damaging |
Het |
Cacna1e |
T |
C |
1: 154,358,294 (GRCm39) |
|
probably null |
Het |
Cfhr2 |
A |
T |
1: 139,741,314 (GRCm39) |
N220K |
probably damaging |
Het |
Csnk1g2 |
C |
A |
10: 80,475,648 (GRCm39) |
A405E |
probably damaging |
Het |
D5Ertd579e |
T |
C |
5: 36,771,903 (GRCm39) |
I831V |
possibly damaging |
Het |
F2 |
T |
A |
2: 91,461,015 (GRCm39) |
N239I |
probably benign |
Het |
Fbln5 |
T |
A |
12: 101,727,086 (GRCm39) |
D301V |
probably damaging |
Het |
Fbn2 |
A |
T |
18: 58,146,819 (GRCm39) |
C2692* |
probably null |
Het |
Fhdc1 |
C |
T |
3: 84,381,557 (GRCm39) |
D34N |
probably damaging |
Het |
Galnt13 |
T |
A |
2: 54,747,878 (GRCm39) |
M253K |
probably damaging |
Het |
Gpc6 |
C |
A |
14: 118,202,255 (GRCm39) |
Y488* |
probably null |
Het |
Grm5 |
G |
T |
7: 87,779,361 (GRCm39) |
G934C |
probably damaging |
Het |
Gys1 |
T |
C |
7: 45,088,958 (GRCm39) |
L119S |
probably damaging |
Het |
H2-T15 |
CTGGGTG |
CTG |
17: 36,368,788 (GRCm39) |
|
probably null |
Het |
Htra4 |
T |
C |
8: 25,527,130 (GRCm39) |
N222D |
probably benign |
Het |
Iba57 |
A |
G |
11: 59,049,287 (GRCm39) |
V294A |
probably benign |
Het |
Kctd21 |
A |
G |
7: 96,996,782 (GRCm39) |
D85G |
probably damaging |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Lama5 |
G |
A |
2: 179,826,253 (GRCm39) |
T2330M |
probably damaging |
Het |
Lrguk |
G |
A |
6: 34,106,158 (GRCm39) |
E728K |
probably benign |
Het |
Mcm6 |
T |
C |
1: 128,279,285 (GRCm39) |
D167G |
probably benign |
Het |
Mettl18 |
T |
A |
1: 163,824,045 (GRCm39) |
V122E |
probably damaging |
Het |
Mindy2 |
G |
A |
9: 70,534,063 (GRCm39) |
S378L |
probably damaging |
Het |
Mis18bp1 |
G |
T |
12: 65,187,540 (GRCm39) |
F854L |
probably damaging |
Het |
Mtdh |
C |
T |
15: 34,114,980 (GRCm39) |
R106* |
probably null |
Het |
Nup214 |
T |
A |
2: 31,923,416 (GRCm39) |
V1315E |
possibly damaging |
Het |
Nup58 |
A |
G |
14: 60,476,004 (GRCm39) |
V271A |
probably benign |
Het |
Or1j1 |
A |
G |
2: 36,702,271 (GRCm39) |
Y278H |
probably damaging |
Het |
Or4c101 |
T |
C |
2: 88,390,176 (GRCm39) |
V121A |
possibly damaging |
Het |
Or6f2 |
T |
C |
7: 139,756,359 (GRCm39) |
S109P |
probably damaging |
Het |
Orc5 |
G |
T |
5: 22,753,003 (GRCm39) |
F10L |
probably benign |
Het |
Pcdha11 |
A |
T |
18: 37,140,051 (GRCm39) |
N560I |
probably damaging |
Het |
Pcdhb9 |
T |
A |
18: 37,535,302 (GRCm39) |
F432Y |
probably benign |
Het |
Peg10 |
GGATCC |
GGATCCCCATCAAGATCC |
6: 4,756,460 (GRCm39) |
|
probably benign |
Het |
Poll |
C |
A |
19: 45,543,563 (GRCm39) |
M385I |
probably benign |
Het |
Pomt1 |
A |
G |
2: 32,144,424 (GRCm39) |
K737E |
possibly damaging |
Het |
Prr16 |
C |
T |
18: 51,435,911 (GRCm39) |
T130I |
probably damaging |
Het |
Ptpn18 |
A |
G |
1: 34,510,873 (GRCm39) |
|
probably null |
Het |
Ranbp6 |
A |
T |
19: 29,788,263 (GRCm39) |
Y696* |
probably null |
Het |
Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
Scn10a |
A |
G |
9: 119,460,571 (GRCm39) |
I1101T |
possibly damaging |
Het |
Slc22a22 |
T |
C |
15: 57,126,734 (GRCm39) |
T93A |
probably damaging |
Het |
Snx10 |
A |
G |
6: 51,565,270 (GRCm39) |
D129G |
probably damaging |
Het |
Stub1 |
A |
G |
17: 26,050,845 (GRCm39) |
|
probably null |
Het |
Tfr2 |
T |
C |
5: 137,569,954 (GRCm39) |
V120A |
probably benign |
Het |
Trmu |
T |
C |
15: 85,779,186 (GRCm39) |
Y278H |
possibly damaging |
Het |
Ugt2b36 |
A |
C |
5: 87,239,947 (GRCm39) |
F146C |
probably damaging |
Het |
Vav2 |
T |
C |
2: 27,160,172 (GRCm39) |
I692V |
possibly damaging |
Het |
Wdfy3 |
A |
G |
5: 102,091,800 (GRCm39) |
L513P |
probably damaging |
Het |
Zfhx4 |
T |
A |
3: 5,467,699 (GRCm39) |
V2619D |
probably damaging |
Het |
Zfyve26 |
T |
A |
12: 79,315,844 (GRCm39) |
N1211Y |
possibly damaging |
Het |
Zp3r |
A |
G |
1: 130,542,912 (GRCm39) |
F142L |
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 |
|
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'- TGATGAGACTCAAAAGGGCCAC -3'
(R):5'- ATTGGTGCAGCTTAGCTCAG -3'
Sequencing Primer
(F):5'- CACATCCATCGGAAAGTTGTC -3'
(R):5'- TTTTTCCTACTGATAATTTCTCCGAG -3'
|
Posted On |
2015-10-08 |