Incidental Mutation 'R7685:Adamts18'
| ID |
593012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts18
|
| Ensembl Gene |
ENSMUSG00000053399 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 18 |
| Synonyms |
E130314N14Rik |
| MMRRC Submission |
045750-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R7685 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
114423758-114575370 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114439855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 913
(C913R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093113]
[ENSMUST00000212665]
|
| AlphaFold |
Q4VC17 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093113
AA Change: C913R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399
AA Change: C913R
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (79/80) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,116,081 (GRCm39) |
L251S |
probably damaging |
Het |
| Acsbg1 |
C |
T |
9: 54,535,843 (GRCm39) |
S53N |
unknown |
Het |
| Adck5 |
C |
A |
15: 76,479,588 (GRCm39) |
Y524* |
probably null |
Het |
| Adgrv1 |
G |
T |
13: 81,251,443 (GRCm39) |
Q6225K |
possibly damaging |
Het |
| Ahr |
T |
C |
12: 35,554,016 (GRCm39) |
N701S |
probably damaging |
Het |
| Apc |
T |
C |
18: 34,447,261 (GRCm39) |
C1386R |
probably damaging |
Het |
| Bbs1 |
A |
G |
19: 4,956,182 (GRCm39) |
S38P |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,862,933 (GRCm39) |
C1366* |
probably null |
Het |
| Cep290 |
A |
C |
10: 100,375,919 (GRCm39) |
H1424P |
probably benign |
Het |
| Clcn3 |
C |
T |
8: 61,386,119 (GRCm39) |
R311K |
possibly damaging |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Dhx9 |
A |
G |
1: 153,334,152 (GRCm39) |
Y1002H |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 30,876,947 (GRCm39) |
T533I |
probably damaging |
Het |
| Ermard |
T |
C |
17: 15,279,724 (GRCm39) |
S505P |
probably benign |
Het |
| Fbxw17 |
G |
A |
13: 50,579,680 (GRCm39) |
D166N |
probably damaging |
Het |
| Fmo3 |
T |
C |
1: 162,785,901 (GRCm39) |
K363R |
possibly damaging |
Het |
| Frey1 |
C |
A |
2: 92,213,817 (GRCm39) |
P68Q |
probably damaging |
Het |
| Gadd45gip1 |
A |
T |
8: 85,558,980 (GRCm39) |
R21W |
probably damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,826 (GRCm39) |
N517S |
probably benign |
Het |
| Ganc |
T |
A |
2: 120,264,273 (GRCm39) |
W409R |
probably damaging |
Het |
| Glrx3 |
T |
C |
7: 137,060,920 (GRCm39) |
S185P |
probably damaging |
Het |
| Gm49368 |
T |
C |
7: 127,712,414 (GRCm39) |
S853P |
probably damaging |
Het |
| Gtf3c2 |
A |
C |
5: 31,325,611 (GRCm39) |
L443V |
probably damaging |
Het |
| Gxylt2 |
A |
T |
6: 100,781,489 (GRCm39) |
Q388L |
probably benign |
Het |
| Hcar2 |
C |
T |
5: 124,003,396 (GRCm39) |
V36M |
possibly damaging |
Het |
| Ifit3b |
A |
T |
19: 34,589,955 (GRCm39) |
D377V |
possibly damaging |
Het |
| Ints5 |
A |
G |
19: 8,874,168 (GRCm39) |
D709G |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,844,450 (GRCm39) |
E1880G |
probably benign |
Het |
| Mep1a |
C |
T |
17: 43,790,065 (GRCm39) |
S428N |
probably benign |
Het |
| Mllt6 |
T |
C |
11: 97,567,790 (GRCm39) |
L739P |
probably damaging |
Het |
| Mlst8 |
T |
C |
17: 24,695,031 (GRCm39) |
Y284C |
probably damaging |
Het |
| Mmel1 |
T |
C |
4: 154,956,111 (GRCm39) |
M1T |
probably null |
Het |
| Muc5ac |
C |
T |
7: 141,363,120 (GRCm39) |
P2144S |
unknown |
Het |
| Myh4 |
T |
C |
11: 67,131,756 (GRCm39) |
V72A |
probably benign |
Het |
| Naa15 |
T |
A |
3: 51,377,395 (GRCm39) |
|
probably null |
Het |
| Nlrc5 |
A |
G |
8: 95,248,028 (GRCm39) |
|
probably null |
Het |
| Nme8 |
T |
A |
13: 19,835,145 (GRCm39) |
M514L |
probably benign |
Het |
| Nudt9 |
C |
A |
5: 104,194,946 (GRCm39) |
S14* |
probably null |
Het |
| Optn |
G |
A |
2: 5,059,461 (GRCm39) |
T19I |
probably benign |
Het |
| Or11h23 |
A |
T |
14: 50,948,215 (GRCm39) |
I143F |
possibly damaging |
Het |
| Or13a24 |
T |
C |
7: 140,154,159 (GRCm39) |
F31S |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,112,370 (GRCm39) |
L495* |
probably null |
Het |
| Panx2 |
T |
C |
15: 88,951,973 (GRCm39) |
S147P |
possibly damaging |
Het |
| Pclo |
T |
A |
5: 14,730,630 (GRCm39) |
V3044D |
unknown |
Het |
| Pcnt |
T |
C |
10: 76,258,642 (GRCm39) |
K608E |
probably benign |
Het |
| Pde7a |
T |
A |
3: 19,281,909 (GRCm39) |
N447I |
probably damaging |
Het |
| Peli2 |
G |
T |
14: 48,517,491 (GRCm39) |
C186F |
not run |
Het |
| Pgm5 |
A |
G |
19: 24,705,215 (GRCm39) |
F433L |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,736,877 (GRCm39) |
V1588I |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,409,413 (GRCm39) |
H1295L |
probably benign |
Het |
| Poli |
T |
C |
18: 70,658,590 (GRCm39) |
E134G |
probably benign |
Het |
| Pramel11 |
T |
A |
4: 143,624,371 (GRCm39) |
D42V |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,479,839 (GRCm39) |
I1144F |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,024,977 (GRCm39) |
T1738S |
probably damaging |
Het |
| Pxdc1 |
A |
G |
13: 34,836,267 (GRCm39) |
L51P |
probably damaging |
Het |
| Rabepk |
C |
T |
2: 34,669,308 (GRCm39) |
G362S |
probably damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rhd |
T |
A |
4: 134,611,820 (GRCm39) |
|
probably null |
Het |
| Rpp14 |
T |
C |
14: 8,090,453 (GRCm38) |
S126P |
probably damaging |
Het |
| Scn7a |
C |
T |
2: 66,506,536 (GRCm39) |
C1451Y |
probably damaging |
Het |
| Sdr39u1 |
G |
A |
14: 56,135,191 (GRCm39) |
R251* |
probably null |
Het |
| Sephs2 |
G |
T |
7: 126,872,506 (GRCm39) |
P196T |
possibly damaging |
Het |
| Slc22a16 |
T |
C |
10: 40,450,085 (GRCm39) |
Y195H |
possibly damaging |
Het |
| Spg11 |
C |
A |
2: 121,899,361 (GRCm39) |
V1575F |
probably damaging |
Het |
| Sqle |
C |
T |
15: 59,187,890 (GRCm39) |
S66L |
probably benign |
Het |
| Tas2r124 |
T |
G |
6: 132,732,056 (GRCm39) |
W122G |
probably damaging |
Het |
| Tex52 |
A |
T |
6: 128,361,921 (GRCm39) |
|
probably null |
Het |
| Thoc1 |
T |
A |
18: 9,993,454 (GRCm39) |
C604* |
probably null |
Het |
| Tmc3 |
T |
C |
7: 83,246,666 (GRCm39) |
S136P |
probably damaging |
Het |
| Tmem212 |
T |
A |
3: 27,950,462 (GRCm39) |
T11S |
probably benign |
Het |
| Ubn2 |
A |
G |
6: 38,468,727 (GRCm39) |
N1147S |
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,312,759 (GRCm39) |
I350T |
probably damaging |
Het |
| Ust |
A |
T |
10: 8,083,339 (GRCm39) |
Y346N |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,335,740 (GRCm39) |
T1399A |
probably benign |
Het |
| Zc3h18 |
G |
A |
8: 123,140,615 (GRCm39) |
R850Q |
unknown |
Het |
| Zfp800 |
C |
A |
6: 28,244,193 (GRCm39) |
K257N |
probably damaging |
Het |
| Zfp985 |
T |
A |
4: 147,667,331 (GRCm39) |
D66E |
probably benign |
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 |
|
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 |
|
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'- CTCGTGATCCAACTTCAGCC -3'
(R):5'- GATTCCGTGTCTTAAGTGGGATAC -3'
Sequencing Primer
(F):5'- GTGTTTATATTTGAATCCCTTCCAAC -3'
(R):5'- GGATACCAGAATGCTGATTGACCC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation