Incidental Mutation 'R8934:Adamts18'
| ID |
680524 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts18
|
| Ensembl Gene |
ENSMUSG00000053399 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 18 |
| Synonyms |
E130314N14Rik |
| MMRRC Submission |
068777-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
R8934 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
114423758-114575370 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 114463510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 779
(I779F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093113]
[ENSMUST00000212665]
|
| AlphaFold |
Q4VC17 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093113
AA Change: I779F
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399
AA Change: I779F
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (55/55) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
A |
14: 32,382,614 (GRCm39) |
S1117L |
possibly damaging |
Het |
| Abce1 |
A |
G |
8: 80,429,661 (GRCm39) |
Y87H |
probably damaging |
Het |
| Adad2 |
G |
A |
8: 120,341,535 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,300,015 (GRCm39) |
T901A |
probably damaging |
Het |
| Bod1l |
T |
C |
5: 41,976,944 (GRCm39) |
T1457A |
probably benign |
Het |
| Brat1 |
T |
C |
5: 140,696,004 (GRCm39) |
V125A |
probably benign |
Het |
| C4b |
G |
A |
17: 34,951,958 (GRCm39) |
R1296C |
possibly damaging |
Het |
| C5ar1 |
A |
T |
7: 15,982,402 (GRCm39) |
L206Q |
probably damaging |
Het |
| Cfap126 |
A |
G |
1: 170,953,690 (GRCm39) |
T87A |
probably benign |
Het |
| Cnot1 |
A |
T |
8: 96,491,695 (GRCm39) |
N376K |
probably benign |
Het |
| Cyp3a44 |
A |
T |
5: 145,731,786 (GRCm39) |
I120K |
possibly damaging |
Het |
| Ddx17 |
T |
C |
15: 79,420,217 (GRCm39) |
E384G |
possibly damaging |
Het |
| Dipk1b |
G |
A |
2: 26,524,866 (GRCm39) |
V89M |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,450,288 (GRCm39) |
S634P |
possibly damaging |
Het |
| Dusp16 |
A |
T |
6: 134,718,639 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,913,738 (GRCm39) |
R185H |
probably damaging |
Het |
| Epdr1 |
T |
C |
13: 19,777,350 (GRCm39) |
E216G |
possibly damaging |
Het |
| Erv3 |
T |
C |
2: 131,698,101 (GRCm39) |
H86R |
probably benign |
Het |
| Gm5114 |
A |
G |
7: 39,060,553 (GRCm39) |
W99R |
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Hjv |
T |
G |
3: 96,433,909 (GRCm39) |
C27G |
probably damaging |
Het |
| Ifrd2 |
T |
C |
9: 107,469,469 (GRCm39) |
|
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,150,407 (GRCm39) |
*758W |
probably null |
Het |
| Il1rap |
T |
C |
16: 26,495,734 (GRCm39) |
C114R |
probably damaging |
Het |
| Irf6 |
T |
C |
1: 192,845,033 (GRCm39) |
I168T |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,759,767 (GRCm39) |
I1164V |
unknown |
Het |
| Lamb3 |
T |
C |
1: 193,021,168 (GRCm39) |
L915P |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,273,909 (GRCm39) |
|
probably benign |
Het |
| Lhx3 |
C |
A |
2: 26,092,258 (GRCm39) |
R211L |
probably damaging |
Het |
| Mettl8 |
T |
C |
2: 70,882,062 (GRCm39) |
|
probably benign |
Het |
| Mroh1 |
T |
C |
15: 76,334,386 (GRCm39) |
S1297P |
probably benign |
Het |
| Myh14 |
T |
A |
7: 44,306,852 (GRCm39) |
T232S |
probably benign |
Het |
| Nemp2 |
T |
A |
1: 52,688,868 (GRCm39) |
F377L |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,889,085 (GRCm39) |
|
probably null |
Het |
| Or4b1b |
T |
A |
2: 90,112,356 (GRCm39) |
T188S |
probably benign |
Het |
| Or51ah3 |
T |
C |
7: 103,210,290 (GRCm39) |
V202A |
probably benign |
Het |
| Pgbd5 |
A |
C |
8: 125,110,998 (GRCm39) |
V231G |
possibly damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,606,666 (GRCm39) |
L240P |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,462,234 (GRCm39) |
|
probably null |
Het |
| Ppp2r5a |
T |
A |
1: 191,100,835 (GRCm39) |
|
probably benign |
Het |
| Pramel31 |
C |
T |
4: 144,090,345 (GRCm39) |
L462F |
possibly damaging |
Het |
| Prss30 |
C |
T |
17: 24,192,628 (GRCm39) |
C147Y |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,546,297 (GRCm39) |
V318M |
probably damaging |
Het |
| Rpap1 |
C |
T |
2: 119,599,730 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
G |
3: 93,303,219 (GRCm39) |
Q184R |
probably benign |
Het |
| Rufy1 |
T |
A |
11: 50,298,705 (GRCm39) |
Q362L |
probably benign |
Het |
| Rundc1 |
A |
G |
11: 101,322,327 (GRCm39) |
K274E |
probably damaging |
Het |
| Shroom3 |
T |
A |
5: 93,089,584 (GRCm39) |
I778K |
probably damaging |
Het |
| Slamf6 |
C |
T |
1: 171,745,338 (GRCm39) |
L22F |
possibly damaging |
Het |
| St7l |
A |
G |
3: 104,796,634 (GRCm39) |
E249G |
probably damaging |
Het |
| Tmem237 |
T |
C |
1: 59,153,338 (GRCm39) |
N61S |
probably benign |
Het |
| Tyk2 |
T |
C |
9: 21,038,416 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
G |
T |
11: 102,204,855 (GRCm39) |
P115T |
probably damaging |
Het |
| Vmn2r70 |
T |
A |
7: 85,211,188 (GRCm39) |
I508F |
possibly damaging |
Het |
| Zfp609 |
C |
T |
9: 65,610,561 (GRCm39) |
A801T |
possibly damaging |
Het |
| Zfp663 |
A |
T |
2: 165,194,714 (GRCm39) |
C502S |
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 |
|
|
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 |
|
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'- GGTGCATACAGTCGTTCAGG -3'
(R):5'- GTGCATACAAAAGCACACATACTGG -3'
Sequencing Primer
(F):5'- TACAGTCGTTCAGGGCGGTTAAAG -3'
(R):5'- TACAAAAGCACACATACTGGGAGAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation