Incidental Mutation 'R9405:Adamts18'
| ID |
711466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts18
|
| Ensembl Gene |
ENSMUSG00000053399 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 18 |
| Synonyms |
E130314N14Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R9405 (G1)
|
| Quality Score |
127.008 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
114423758-114575370 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 114430030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1135
(V1135A)
|
| 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: V1135A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399
AA Change: V1135A
| 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: 99.6%
- 20x: 98.7%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
T |
A |
9: 118,978,506 (GRCm39) |
Q277L |
probably damaging |
Het |
| Apobr |
A |
G |
7: 126,184,704 (GRCm39) |
S72G |
possibly damaging |
Het |
| Arl13b |
T |
A |
16: 62,632,260 (GRCm39) |
Q214L |
possibly damaging |
Het |
| Armt1 |
AC |
A |
10: 4,400,848 (GRCm39) |
|
probably null |
Het |
| Asah2 |
T |
G |
19: 31,986,045 (GRCm39) |
T542P |
possibly damaging |
Het |
| Asns |
C |
T |
6: 7,689,283 (GRCm39) |
C73Y |
probably damaging |
Het |
| Calhm2 |
T |
A |
19: 47,124,108 (GRCm39) |
T79S |
probably benign |
Het |
| Cd300c2 |
T |
G |
11: 114,891,587 (GRCm39) |
T96P |
probably damaging |
Het |
| Copb1 |
G |
A |
7: 113,822,458 (GRCm39) |
T757I |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,539,187 (GRCm39) |
T1517S |
|
Het |
| Ddx60 |
T |
A |
8: 62,425,248 (GRCm39) |
L679M |
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,093,757 (GRCm39) |
K1123R |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 118,009,737 (GRCm39) |
S612P |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,272,306 (GRCm39) |
C1037S |
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,022,934 (GRCm39) |
T593I |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,694,137 (GRCm39) |
I244N |
possibly damaging |
Het |
| Epb41l4a |
C |
A |
18: 33,943,271 (GRCm39) |
|
probably null |
Het |
| Fam83b |
A |
G |
9: 76,398,703 (GRCm39) |
M800T |
possibly damaging |
Het |
| Fcf1 |
T |
G |
12: 85,021,013 (GRCm39) |
C98G |
probably benign |
Het |
| H2bc3 |
T |
C |
13: 23,931,141 (GRCm39) |
Y122H |
probably benign |
Het |
| Hltf |
G |
T |
3: 20,137,094 (GRCm39) |
Q417H |
possibly damaging |
Het |
| Hmg20b |
T |
C |
10: 81,185,258 (GRCm39) |
S35G |
probably benign |
Het |
| Igkv4-57-1 |
T |
G |
6: 69,521,525 (GRCm39) |
Y59S |
probably damaging |
Het |
| Irs2 |
C |
T |
8: 11,055,061 (GRCm39) |
V1124I |
possibly damaging |
Het |
| Kprp |
A |
G |
3: 92,731,560 (GRCm39) |
C497R |
unknown |
Het |
| Krt15 |
A |
T |
11: 100,022,961 (GRCm39) |
V418E |
probably benign |
Het |
| Lce1e |
G |
A |
3: 92,615,312 (GRCm39) |
P12S |
unknown |
Het |
| Lsmem1 |
T |
C |
12: 40,227,113 (GRCm39) |
D124G |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,642,036 (GRCm39) |
F85S |
probably damaging |
Het |
| Mtnr1b |
A |
T |
9: 15,774,447 (GRCm39) |
V204E |
possibly damaging |
Het |
| Myo7b |
C |
T |
18: 32,109,356 (GRCm39) |
A1172T |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,349,424 (GRCm39) |
I2362N |
probably damaging |
Het |
| Nde1 |
T |
G |
16: 14,006,255 (GRCm39) |
L261R |
probably damaging |
Het |
| Neurl1b |
A |
G |
17: 26,658,265 (GRCm39) |
D401G |
probably benign |
Het |
| Nfkb2 |
T |
C |
19: 46,296,839 (GRCm39) |
V303A |
probably damaging |
Het |
| Nlrc5 |
C |
T |
8: 95,199,652 (GRCm39) |
P88S |
probably damaging |
Het |
| Or10ad1b |
T |
A |
15: 98,124,912 (GRCm39) |
I207F |
possibly damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,460 (GRCm39) |
I212K |
possibly damaging |
Het |
| Or6c203 |
T |
A |
10: 129,010,165 (GRCm39) |
M242L |
probably benign |
Het |
| Pde1c |
T |
A |
6: 56,049,199 (GRCm39) |
K705* |
probably null |
Het |
| Pear1 |
A |
T |
3: 87,659,890 (GRCm39) |
F699I |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Prickle1 |
A |
T |
15: 93,400,861 (GRCm39) |
L541* |
probably null |
Het |
| Prss39 |
G |
A |
1: 34,538,344 (GRCm39) |
G70S |
probably damaging |
Het |
| Prune2 |
T |
G |
19: 17,193,708 (GRCm39) |
N3065K |
probably damaging |
Het |
| Qrfprl |
T |
A |
6: 65,433,078 (GRCm39) |
N299K |
probably benign |
Het |
| Rdh5 |
A |
C |
10: 128,753,937 (GRCm39) |
D127E |
probably benign |
Het |
| Ryr3 |
G |
A |
2: 112,664,612 (GRCm39) |
H1580Y |
probably damaging |
Het |
| Sash1 |
G |
A |
10: 8,637,994 (GRCm39) |
|
probably benign |
Het |
| Scgb3a2 |
T |
A |
18: 43,900,129 (GRCm39) |
L139Q |
possibly damaging |
Het |
| Six1 |
A |
G |
12: 73,093,095 (GRCm39) |
S36P |
probably damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,950,416 (GRCm39) |
I281V |
probably benign |
Het |
| Snai2 |
T |
A |
16: 14,524,589 (GRCm39) |
Y32N |
probably benign |
Het |
| Stat2 |
T |
C |
10: 128,114,634 (GRCm39) |
S244P |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,152,030 (GRCm39) |
I5759T |
probably damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,012,985 (GRCm39) |
N329S |
possibly damaging |
Het |
| Tex2 |
A |
T |
11: 106,435,214 (GRCm39) |
S737R |
unknown |
Het |
| Trav13d-3 |
G |
A |
14: 53,270,715 (GRCm39) |
R59H |
probably benign |
Het |
| Tspan9 |
C |
T |
6: 127,944,124 (GRCm39) |
A59T |
probably benign |
Het |
| Usp53 |
G |
A |
3: 122,746,918 (GRCm39) |
A349V |
probably damaging |
Het |
| Vmn1r188 |
T |
C |
13: 22,272,898 (GRCm39) |
L284P |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,261,215 (GRCm39) |
N374S |
probably damaging |
Het |
| Zfp622 |
A |
T |
15: 25,985,035 (GRCm39) |
I134F |
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 |
|
R8934:Adamts18
|
UTSW |
8 |
114,463,510 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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'- CAGCCAACTGTAATGAGCTGTG -3'
(R):5'- GCTGAATAGACTTGGCCTGTATG -3'
Sequencing Primer
(F):5'- AGCTGTGGGAGAGTTTTCTTCAAAC -3'
(R):5'- CTGTATGCCTAGACCTGGCTG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation