Incidental Mutation 'R7276:Adamts18'
| ID |
565587 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamts18
|
| Ensembl Gene |
ENSMUSG00000053399 |
| Gene Name |
ADAM metallopeptidase with thrombospondin type 1 motif 18 |
| Synonyms |
E130314N14Rik |
| MMRRC Submission |
045359-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.127)
|
| Stock # |
R7276 (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 114501896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 322
(M322L)
|
| 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: M322L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000090801
Gene: ENSMUSG00000053399
AA Change: M322L
| 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 |
100% (74/74) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930455H04Rik |
T |
C |
3: 116,762,227 (GRCm39) |
V26A |
unknown |
Het |
| 4930546C10Rik |
C |
T |
18: 69,083,093 (GRCm39) |
W40* |
probably null |
Het |
| Abcc5 |
T |
C |
16: 20,195,258 (GRCm39) |
|
probably null |
Het |
| Ankrd44 |
T |
A |
1: 54,774,239 (GRCm39) |
N406I |
probably benign |
Het |
| Arhgap35 |
T |
G |
7: 16,298,493 (GRCm39) |
T191P |
probably damaging |
Het |
| Atg3 |
G |
A |
16: 44,982,805 (GRCm39) |
E37K |
possibly damaging |
Het |
| Bbs1 |
A |
T |
19: 4,947,738 (GRCm39) |
|
probably null |
Het |
| BC048562 |
A |
G |
9: 108,322,435 (GRCm39) |
N60D |
probably damaging |
Het |
| Btnl9 |
T |
A |
11: 49,066,617 (GRCm39) |
I335F |
probably benign |
Het |
| C7 |
A |
T |
15: 5,041,449 (GRCm39) |
C486S |
probably damaging |
Het |
| Cchcr1 |
C |
A |
17: 35,840,031 (GRCm39) |
Q634K |
possibly damaging |
Het |
| Cd93 |
A |
T |
2: 148,283,660 (GRCm39) |
V562E |
probably damaging |
Het |
| Cemip2 |
A |
G |
19: 21,812,824 (GRCm39) |
I1010V |
probably benign |
Het |
| Cript |
T |
A |
17: 87,341,696 (GRCm39) |
Y50* |
probably null |
Het |
| Dnah14 |
T |
A |
1: 181,513,372 (GRCm39) |
F1908L |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,367,984 (GRCm39) |
N2790D |
probably damaging |
Het |
| Eif3h |
C |
A |
15: 51,728,717 (GRCm39) |
|
probably null |
Het |
| Ffar3 |
C |
G |
7: 30,555,273 (GRCm39) |
V16L |
possibly damaging |
Het |
| Gcn1 |
C |
T |
5: 115,749,119 (GRCm39) |
R1884W |
probably damaging |
Het |
| Gpatch1 |
T |
A |
7: 34,996,921 (GRCm39) |
M426L |
probably benign |
Het |
| Hcn2 |
T |
A |
10: 79,564,934 (GRCm39) |
Y449N |
possibly damaging |
Het |
| Hdac10 |
T |
C |
15: 89,012,488 (GRCm39) |
T32A |
probably benign |
Het |
| Hykk |
T |
C |
9: 54,853,502 (GRCm39) |
Y275H |
probably damaging |
Het |
| Igfn1 |
G |
C |
1: 135,926,376 (GRCm39) |
P25A |
possibly damaging |
Het |
| Jph1 |
T |
C |
1: 17,162,266 (GRCm39) |
Q132R |
probably damaging |
Het |
| Kat2b |
T |
A |
17: 53,931,450 (GRCm39) |
D149E |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,902,167 (GRCm39) |
K1289N |
probably damaging |
Het |
| Lrrc37a |
G |
A |
11: 103,347,572 (GRCm39) |
S3041L |
unknown |
Het |
| Mtrex |
A |
T |
13: 113,050,973 (GRCm39) |
Y201N |
probably benign |
Het |
| Mtus2 |
C |
T |
5: 148,013,368 (GRCm39) |
R54C |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,583,898 (GRCm39) |
I38N |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,471,546 (GRCm39) |
S94P |
probably damaging |
Het |
| Nfat5 |
C |
A |
8: 108,093,731 (GRCm39) |
N657K |
probably benign |
Het |
| Ngfr |
A |
G |
11: 95,465,170 (GRCm39) |
L226P |
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,048,303 (GRCm39) |
S703P |
probably damaging |
Het |
| Nsun7 |
A |
G |
5: 66,434,484 (GRCm39) |
D275G |
probably benign |
Het |
| Oas1d |
A |
G |
5: 121,054,944 (GRCm39) |
N172S |
possibly damaging |
Het |
| Or11h4 |
A |
G |
14: 50,974,187 (GRCm39) |
V144A |
possibly damaging |
Het |
| Or2y17 |
T |
A |
11: 49,231,821 (GRCm39) |
M154K |
probably benign |
Het |
| Or4c11b |
T |
A |
2: 88,625,025 (GRCm39) |
F100I |
probably damaging |
Het |
| Or52e8 |
T |
A |
7: 104,624,857 (GRCm39) |
M116L |
possibly damaging |
Het |
| Papss1 |
A |
G |
3: 131,324,995 (GRCm39) |
E484G |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,160,224 (GRCm39) |
D447G |
probably benign |
Het |
| Phkg2 |
A |
G |
7: 127,181,558 (GRCm39) |
E247G |
possibly damaging |
Het |
| Pramel30 |
A |
G |
4: 144,059,216 (GRCm39) |
E309G |
possibly damaging |
Het |
| Prelid2 |
T |
C |
18: 42,045,487 (GRCm39) |
N141S |
possibly damaging |
Het |
| Psg18 |
T |
C |
7: 18,079,909 (GRCm39) |
M431V |
probably damaging |
Het |
| Psmd12 |
A |
T |
11: 107,394,471 (GRCm39) |
R397* |
probably null |
Het |
| Ralgds |
G |
A |
2: 28,435,884 (GRCm39) |
R503Q |
probably damaging |
Het |
| Rb1cc1 |
G |
A |
1: 6,319,416 (GRCm39) |
C945Y |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,183,715 (GRCm39) |
D1026G |
probably benign |
Het |
| Scn7a |
G |
A |
2: 66,587,506 (GRCm39) |
P66S |
probably damaging |
Het |
| Supt16 |
T |
C |
14: 52,414,458 (GRCm39) |
E448G |
probably benign |
Het |
| Syt16 |
C |
T |
12: 74,313,483 (GRCm39) |
R470C |
probably damaging |
Het |
| Tas2r114 |
T |
C |
6: 131,666,310 (GRCm39) |
I239M |
probably damaging |
Het |
| Tecpr1 |
C |
T |
5: 144,153,838 (GRCm39) |
W138* |
probably null |
Het |
| Tex101 |
T |
C |
7: 24,369,829 (GRCm39) |
N45S |
probably damaging |
Het |
| Tmx1 |
C |
A |
12: 70,512,917 (GRCm39) |
T275K |
possibly damaging |
Het |
| Trappc8 |
T |
G |
18: 20,951,148 (GRCm39) |
I1434L |
probably damaging |
Het |
| Trappc9 |
G |
T |
15: 72,924,119 (GRCm39) |
H208N |
probably damaging |
Het |
| Trcg1 |
T |
A |
9: 57,149,862 (GRCm39) |
L478Q |
probably damaging |
Het |
| Trim42 |
G |
T |
9: 97,251,625 (GRCm39) |
Y91* |
probably null |
Het |
| Vmn2r114 |
A |
G |
17: 23,509,934 (GRCm39) |
S849P |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,831,881 (GRCm39) |
T303A |
probably benign |
Het |
| Vmn2r13 |
A |
G |
5: 109,321,645 (GRCm39) |
W351R |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,340,359 (GRCm39) |
D38G |
probably damaging |
Het |
| Vsig8 |
C |
A |
1: 172,390,850 (GRCm39) |
C411* |
probably null |
Het |
| Vwce |
A |
T |
19: 10,641,538 (GRCm39) |
T755S |
possibly damaging |
Het |
| Wwp1 |
T |
C |
4: 19,611,782 (GRCm39) |
S897G |
probably damaging |
Het |
| Zfp111 |
C |
A |
7: 23,898,978 (GRCm39) |
C212F |
probably damaging |
Het |
| Zfp385b |
G |
T |
2: 77,280,624 (GRCm39) |
H193N |
probably damaging |
Het |
| Zfp811 |
T |
C |
17: 33,017,755 (GRCm39) |
E95G |
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 |
|
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'- GGCTAGAAACCTGTTGGGAC -3'
(R):5'- TGCAGAGGACGCCTATCTAC -3'
Sequencing Primer
(F):5'- TGGGACAATTAAAACCACATACAAG -3'
(R):5'- AGAGGACGCCTATCTACGCTTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation