Incidental Mutation 'R0480:Adamtsl1'
ID |
41903 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamtsl1
|
Ensembl Gene |
ENSMUSG00000066113 |
Gene Name |
ADAMTS-like 1 |
Synonyms |
punctin-1, 5930437A14Rik, 6720426B09Rik |
MMRRC Submission |
038680-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.238)
|
Stock # |
R0480 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
85432409-86346622 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 86171055 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 518
(A518S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119278
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048885]
[ENSMUST00000107178]
[ENSMUST00000141889]
|
AlphaFold |
Q8BLI0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048885
AA Change: A518S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000043073 Gene: ENSMUSG00000066113 AA Change: A518S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
TSP1
|
36 |
82 |
8.95e-7 |
SMART |
TSP1
|
301 |
360 |
4.35e-2 |
SMART |
TSP1
|
379 |
438 |
2.05e-2 |
SMART |
TSP1
|
439 |
493 |
3.99e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107178
AA Change: A501S
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000102796 Gene: ENSMUSG00000066113 AA Change: A501S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
TSP1
|
36 |
82 |
8.95e-7 |
SMART |
TSP1
|
301 |
360 |
4.35e-2 |
SMART |
TSP1
|
362 |
421 |
2.05e-2 |
SMART |
TSP1
|
422 |
476 |
3.99e-4 |
SMART |
TSP1
|
508 |
567 |
6.39e-3 |
SMART |
TSP1
|
593 |
650 |
7.86e-3 |
SMART |
TSP1
|
652 |
712 |
3.78e-5 |
SMART |
TSP1
|
715 |
772 |
2.66e-2 |
SMART |
TSP1
|
774 |
833 |
1.62e-4 |
SMART |
IGc2
|
873 |
937 |
4.19e-6 |
SMART |
low complexity region
|
1123 |
1142 |
N/A |
INTRINSIC |
IGc2
|
1175 |
1240 |
1.31e-7 |
SMART |
IGc2
|
1282 |
1351 |
7.81e-15 |
SMART |
IGc2
|
1400 |
1467 |
2.39e-10 |
SMART |
TSP1
|
1481 |
1537 |
2.12e-1 |
SMART |
TSP1
|
1540 |
1599 |
1.74e-4 |
SMART |
TSP1
|
1600 |
1658 |
8.2e0 |
SMART |
TSP1
|
1660 |
1717 |
1.96e-1 |
SMART |
Pfam:PLAC
|
1721 |
1751 |
1.4e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136320
|
SMART Domains |
Protein: ENSMUSP00000123343 Gene: ENSMUSG00000066113
Domain | Start | End | E-Value | Type |
Pfam:ADAM_spacer1
|
15 |
125 |
2.7e-7 |
PFAM |
TSP1
|
130 |
189 |
4.35e-2 |
SMART |
TSP1
|
191 |
239 |
1.36e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141889
AA Change: A518S
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000119278 Gene: ENSMUSG00000066113 AA Change: A518S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
TSP1
|
36 |
82 |
8.95e-7 |
SMART |
TSP1
|
301 |
360 |
4.35e-2 |
SMART |
TSP1
|
379 |
438 |
2.05e-2 |
SMART |
TSP1
|
439 |
493 |
3.99e-4 |
SMART |
TSP1
|
525 |
584 |
6.39e-3 |
SMART |
TSP1
|
610 |
667 |
7.86e-3 |
SMART |
TSP1
|
707 |
764 |
2.66e-2 |
SMART |
TSP1
|
766 |
825 |
1.62e-4 |
SMART |
IGc2
|
865 |
929 |
4.19e-6 |
SMART |
low complexity region
|
1115 |
1134 |
N/A |
INTRINSIC |
IGc2
|
1167 |
1232 |
1.31e-7 |
SMART |
IGc2
|
1274 |
1343 |
7.81e-15 |
SMART |
IGc2
|
1392 |
1459 |
2.39e-10 |
SMART |
TSP1
|
1473 |
1529 |
2.12e-1 |
SMART |
TSP1
|
1532 |
1591 |
1.74e-4 |
SMART |
TSP1
|
1592 |
1650 |
8.2e0 |
SMART |
TSP1
|
1652 |
1709 |
1.96e-1 |
SMART |
Pfam:PLAC
|
1712 |
1744 |
5.6e-12 |
PFAM |
|
Meta Mutation Damage Score |
0.0873 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
99% (117/118) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
All alleles(3) : Gene trapped(3) |
Other mutations in this stock |
Total: 113 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
C |
T |
11: 58,771,012 (GRCm39) |
L165F |
probably damaging |
Het |
Adamts18 |
A |
G |
8: 114,465,450 (GRCm39) |
V714A |
possibly damaging |
Het |
Adcy2 |
C |
T |
13: 68,880,231 (GRCm39) |
V363M |
probably damaging |
Het |
Ago4 |
G |
T |
4: 126,419,870 (GRCm39) |
Q36K |
probably benign |
Het |
Akr1a1 |
A |
G |
4: 116,497,044 (GRCm39) |
V172A |
possibly damaging |
Het |
Alkbh2 |
T |
A |
5: 114,263,596 (GRCm39) |
N137I |
probably damaging |
Het |
Ank3 |
T |
A |
10: 69,715,756 (GRCm39) |
S470T |
probably damaging |
Het |
Ankrd12 |
T |
C |
17: 66,356,823 (GRCm39) |
T65A |
possibly damaging |
Het |
Aox1 |
A |
T |
1: 58,082,810 (GRCm39) |
|
probably benign |
Het |
Arhgap11a |
A |
T |
2: 113,670,163 (GRCm39) |
I320N |
probably benign |
Het |
Arhgap17 |
G |
A |
7: 122,893,867 (GRCm39) |
H518Y |
probably damaging |
Het |
Ascc3 |
T |
C |
10: 50,611,348 (GRCm39) |
V1563A |
probably damaging |
Het |
Atf2 |
G |
A |
2: 73,649,500 (GRCm39) |
|
probably benign |
Het |
Bmpr2 |
C |
T |
1: 59,884,818 (GRCm39) |
T268I |
probably damaging |
Het |
Bpifb9a |
A |
G |
2: 154,106,608 (GRCm39) |
I380V |
probably benign |
Het |
C2cd2 |
G |
A |
16: 97,678,348 (GRCm39) |
T363I |
probably benign |
Het |
Catsperg2 |
T |
G |
7: 29,420,723 (GRCm39) |
N190H |
probably damaging |
Het |
Ccdc138 |
T |
C |
10: 58,397,789 (GRCm39) |
L543S |
probably damaging |
Het |
Ccdc170 |
A |
T |
10: 4,468,939 (GRCm39) |
K162N |
probably benign |
Het |
Cdca5 |
G |
T |
19: 6,140,328 (GRCm39) |
R163L |
probably damaging |
Het |
Cdh24 |
A |
G |
14: 54,870,054 (GRCm39) |
F239S |
probably benign |
Het |
Cdkl3 |
T |
C |
11: 51,895,882 (GRCm39) |
V43A |
probably damaging |
Het |
Cep152 |
G |
T |
2: 125,423,639 (GRCm39) |
Q921K |
possibly damaging |
Het |
Cftr |
G |
A |
6: 18,274,517 (GRCm39) |
|
probably benign |
Het |
Chmp5 |
T |
C |
4: 40,948,690 (GRCm39) |
|
probably benign |
Het |
Cit |
T |
A |
5: 116,071,452 (GRCm39) |
|
probably benign |
Het |
Cngb3 |
T |
A |
4: 19,309,517 (GRCm39) |
|
probably benign |
Het |
Cnr2 |
A |
G |
4: 135,644,912 (GRCm39) |
E330G |
probably benign |
Het |
Cyp21a1 |
A |
T |
17: 35,020,800 (GRCm39) |
L473Q |
probably damaging |
Het |
Dchs1 |
T |
C |
7: 105,420,696 (GRCm39) |
T575A |
probably benign |
Het |
Dedd2 |
A |
G |
7: 24,903,050 (GRCm39) |
V303A |
probably damaging |
Het |
Dmd |
G |
T |
X: 83,469,344 (GRCm39) |
A2370S |
probably benign |
Het |
Dnah10 |
T |
A |
5: 124,885,915 (GRCm39) |
N3009K |
probably damaging |
Het |
Dnajc13 |
G |
T |
9: 104,077,708 (GRCm39) |
N934K |
probably damaging |
Het |
Dock1 |
C |
T |
7: 134,339,447 (GRCm39) |
L106F |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,909,025 (GRCm39) |
Y2326H |
probably benign |
Het |
Fhl5 |
A |
T |
4: 25,207,101 (GRCm39) |
C222* |
probably null |
Het |
Gnmt |
T |
C |
17: 47,036,854 (GRCm39) |
T252A |
probably benign |
Het |
Gpi-ps |
A |
G |
8: 5,689,888 (GRCm39) |
|
noncoding transcript |
Het |
Gsta5 |
C |
T |
9: 78,210,099 (GRCm39) |
A135V |
probably benign |
Het |
Gtf2f1 |
A |
G |
17: 57,311,307 (GRCm39) |
|
probably null |
Het |
Gtf3a |
T |
C |
5: 146,890,039 (GRCm39) |
Y187H |
probably damaging |
Het |
Hdac2 |
A |
G |
10: 36,850,788 (GRCm39) |
Y14C |
probably damaging |
Het |
Hnrnph1 |
T |
G |
11: 50,276,589 (GRCm39) |
|
probably benign |
Het |
Homer2 |
T |
C |
7: 81,268,351 (GRCm39) |
D92G |
possibly damaging |
Het |
Hspg2 |
T |
C |
4: 137,277,335 (GRCm39) |
S2885P |
probably damaging |
Het |
Insr |
A |
G |
8: 3,211,770 (GRCm39) |
S1084P |
probably damaging |
Het |
Ints11 |
T |
A |
4: 155,972,081 (GRCm39) |
V362E |
probably damaging |
Het |
Kank2 |
T |
C |
9: 21,691,195 (GRCm39) |
N513S |
probably damaging |
Het |
Kl |
T |
G |
5: 150,876,753 (GRCm39) |
V191G |
probably damaging |
Het |
Krt23 |
A |
G |
11: 99,377,524 (GRCm39) |
|
probably null |
Het |
Lama3 |
A |
C |
18: 12,583,481 (GRCm39) |
T690P |
possibly damaging |
Het |
Lamb1 |
G |
A |
12: 31,332,720 (GRCm39) |
A281T |
possibly damaging |
Het |
Lck |
T |
C |
4: 129,449,433 (GRCm39) |
E299G |
probably damaging |
Het |
Lonrf1 |
A |
G |
8: 36,689,864 (GRCm39) |
V703A |
probably damaging |
Het |
Ly6f |
T |
C |
15: 75,143,526 (GRCm39) |
C78R |
probably damaging |
Het |
Mapkap1 |
C |
T |
2: 34,423,793 (GRCm39) |
|
probably benign |
Het |
Mast1 |
T |
A |
8: 85,639,718 (GRCm39) |
I1204F |
probably damaging |
Het |
Mbd6 |
C |
T |
10: 127,121,742 (GRCm39) |
|
probably benign |
Het |
Mef2c |
A |
T |
13: 83,741,020 (GRCm39) |
T60S |
probably damaging |
Het |
Mgat4c |
C |
T |
10: 102,224,980 (GRCm39) |
T398I |
probably damaging |
Het |
Mmp12 |
C |
A |
9: 7,350,016 (GRCm39) |
H102Q |
probably damaging |
Het |
Mmp20 |
G |
A |
9: 7,645,374 (GRCm39) |
G308E |
probably damaging |
Het |
Mms19 |
A |
T |
19: 41,943,285 (GRCm39) |
L395Q |
probably damaging |
Het |
Mus81 |
A |
G |
19: 5,537,959 (GRCm39) |
|
probably benign |
Het |
Mypn |
C |
T |
10: 63,028,982 (GRCm39) |
R27H |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,689,161 (GRCm39) |
E372G |
probably damaging |
Het |
Ncoa1 |
T |
A |
12: 4,389,105 (GRCm39) |
I57F |
probably damaging |
Het |
Ncstn |
T |
C |
1: 171,910,159 (GRCm39) |
|
probably benign |
Het |
Nefm |
C |
T |
14: 68,361,608 (GRCm39) |
D219N |
probably damaging |
Het |
Notch2 |
C |
T |
3: 98,053,853 (GRCm39) |
T2172I |
possibly damaging |
Het |
Obscn |
T |
A |
11: 59,024,772 (GRCm39) |
K423* |
probably null |
Het |
Or51l14 |
A |
G |
7: 103,100,835 (GRCm39) |
N97S |
probably benign |
Het |
Or5d37 |
A |
C |
2: 87,923,972 (GRCm39) |
S103A |
probably benign |
Het |
Or5k1 |
T |
C |
16: 58,617,684 (GRCm39) |
N175S |
probably benign |
Het |
Or9a2 |
A |
T |
6: 41,749,198 (GRCm39) |
C12S |
probably benign |
Het |
Ostm1 |
T |
A |
10: 42,572,343 (GRCm39) |
M242K |
probably damaging |
Het |
Oxnad1 |
T |
A |
14: 31,821,437 (GRCm39) |
I154N |
probably damaging |
Het |
Pcdhb10 |
T |
A |
18: 37,546,152 (GRCm39) |
D409E |
probably damaging |
Het |
Pdcd11 |
T |
C |
19: 47,113,476 (GRCm39) |
|
probably benign |
Het |
Peak1 |
C |
A |
9: 56,165,916 (GRCm39) |
V671L |
probably benign |
Het |
Pex1 |
G |
A |
5: 3,656,444 (GRCm39) |
|
probably null |
Het |
Plk4 |
T |
A |
3: 40,760,075 (GRCm39) |
F324I |
probably benign |
Het |
Poglut2 |
C |
T |
1: 44,149,917 (GRCm39) |
W424* |
probably null |
Het |
Ppfibp1 |
C |
A |
6: 146,920,529 (GRCm39) |
|
probably null |
Het |
Prcp |
T |
A |
7: 92,568,290 (GRCm39) |
W276R |
probably damaging |
Het |
Prr14l |
T |
C |
5: 32,987,224 (GRCm39) |
E757G |
probably benign |
Het |
Prss52 |
T |
A |
14: 64,351,093 (GRCm39) |
Y293N |
probably damaging |
Het |
Prune2 |
A |
G |
19: 16,984,156 (GRCm39) |
|
probably benign |
Het |
Ptprk |
G |
C |
10: 28,461,943 (GRCm39) |
A84P |
probably damaging |
Het |
Ptprk |
C |
T |
10: 28,461,944 (GRCm39) |
A84V |
probably damaging |
Het |
Rock1 |
A |
G |
18: 10,079,120 (GRCm39) |
L1116P |
possibly damaging |
Het |
Sdha |
A |
T |
13: 74,475,452 (GRCm39) |
F526Y |
probably benign |
Het |
Sema4b |
T |
C |
7: 79,869,954 (GRCm39) |
F414S |
probably damaging |
Het |
Serpina12 |
T |
C |
12: 104,001,960 (GRCm39) |
D252G |
probably damaging |
Het |
Siglecg |
C |
T |
7: 43,060,550 (GRCm39) |
A310V |
probably benign |
Het |
Slc30a8 |
A |
G |
15: 52,188,966 (GRCm39) |
I194V |
probably benign |
Het |
Spred3 |
A |
G |
7: 28,862,400 (GRCm39) |
S148P |
probably damaging |
Het |
Taf9b |
A |
G |
X: 105,262,014 (GRCm39) |
S58P |
probably damaging |
Het |
Tgm4 |
A |
T |
9: 122,891,484 (GRCm39) |
Y109F |
probably benign |
Het |
Tmprss11c |
T |
G |
5: 86,385,468 (GRCm39) |
|
probably benign |
Het |
Tmtc3 |
A |
T |
10: 100,307,266 (GRCm39) |
V246D |
probably damaging |
Het |
Tnip1 |
C |
T |
11: 54,828,820 (GRCm39) |
G116R |
probably damaging |
Het |
Tpr |
A |
G |
1: 150,303,992 (GRCm39) |
E1455G |
possibly damaging |
Het |
Ttc3 |
T |
A |
16: 94,232,863 (GRCm39) |
L986* |
probably null |
Het |
Txndc15 |
A |
G |
13: 55,872,436 (GRCm39) |
I275V |
possibly damaging |
Het |
Ugt2b1 |
T |
A |
5: 87,074,315 (GRCm39) |
I15L |
probably benign |
Het |
Upf2 |
T |
C |
2: 5,962,445 (GRCm39) |
V49A |
possibly damaging |
Het |
Vmn1r117 |
G |
A |
7: 20,617,371 (GRCm39) |
P226S |
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,493,456 (GRCm39) |
H163Q |
probably benign |
Het |
Vstm2a |
T |
A |
11: 16,213,240 (GRCm39) |
S208R |
probably damaging |
Het |
Zfp346 |
T |
A |
13: 55,260,910 (GRCm39) |
C79* |
probably null |
Het |
Zfp628 |
A |
T |
7: 4,924,615 (GRCm39) |
T946S |
probably benign |
Het |
|
Other mutations in Adamtsl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00231:Adamtsl1
|
APN |
4 |
86,303,877 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00741:Adamtsl1
|
APN |
4 |
86,195,185 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00770:Adamtsl1
|
APN |
4 |
86,306,776 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL00774:Adamtsl1
|
APN |
4 |
86,306,776 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL00826:Adamtsl1
|
APN |
4 |
86,075,041 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00938:Adamtsl1
|
APN |
4 |
86,260,515 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01012:Adamtsl1
|
APN |
4 |
86,260,426 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01728:Adamtsl1
|
APN |
4 |
86,029,074 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01801:Adamtsl1
|
APN |
4 |
86,117,559 (GRCm39) |
missense |
probably benign |
0.23 |
IGL01922:Adamtsl1
|
APN |
4 |
86,168,139 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02006:Adamtsl1
|
APN |
4 |
86,117,582 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02192:Adamtsl1
|
APN |
4 |
86,146,253 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02351:Adamtsl1
|
APN |
4 |
86,075,110 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02358:Adamtsl1
|
APN |
4 |
86,075,110 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02373:Adamtsl1
|
APN |
4 |
86,168,042 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02660:Adamtsl1
|
APN |
4 |
86,150,847 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02964:Adamtsl1
|
APN |
4 |
86,342,594 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03233:Adamtsl1
|
APN |
4 |
86,260,357 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03297:Adamtsl1
|
APN |
4 |
86,341,663 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03326:Adamtsl1
|
APN |
4 |
86,170,985 (GRCm39) |
splice site |
probably benign |
|
PIT4378001:Adamtsl1
|
UTSW |
4 |
86,117,601 (GRCm39) |
missense |
possibly damaging |
0.93 |
PIT4418001:Adamtsl1
|
UTSW |
4 |
86,161,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Adamtsl1
|
UTSW |
4 |
86,260,960 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0131:Adamtsl1
|
UTSW |
4 |
86,260,960 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0132:Adamtsl1
|
UTSW |
4 |
86,260,960 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0453:Adamtsl1
|
UTSW |
4 |
86,150,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R0496:Adamtsl1
|
UTSW |
4 |
86,259,435 (GRCm39) |
missense |
probably damaging |
1.00 |
R0538:Adamtsl1
|
UTSW |
4 |
86,261,358 (GRCm39) |
missense |
probably benign |
0.27 |
R0547:Adamtsl1
|
UTSW |
4 |
86,274,592 (GRCm39) |
missense |
probably benign |
0.37 |
R0567:Adamtsl1
|
UTSW |
4 |
86,146,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R0568:Adamtsl1
|
UTSW |
4 |
86,336,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R0639:Adamtsl1
|
UTSW |
4 |
86,195,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R0931:Adamtsl1
|
UTSW |
4 |
86,168,084 (GRCm39) |
missense |
probably benign |
0.05 |
R1186:Adamtsl1
|
UTSW |
4 |
86,306,746 (GRCm39) |
missense |
probably benign |
0.00 |
R1387:Adamtsl1
|
UTSW |
4 |
86,293,230 (GRCm39) |
splice site |
probably benign |
|
R1459:Adamtsl1
|
UTSW |
4 |
86,344,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R1518:Adamtsl1
|
UTSW |
4 |
86,260,840 (GRCm39) |
missense |
probably damaging |
0.99 |
R1532:Adamtsl1
|
UTSW |
4 |
86,166,302 (GRCm39) |
missense |
probably benign |
0.02 |
R1603:Adamtsl1
|
UTSW |
4 |
86,333,767 (GRCm39) |
missense |
probably benign |
|
R1931:Adamtsl1
|
UTSW |
4 |
86,260,648 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2086:Adamtsl1
|
UTSW |
4 |
86,146,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R2221:Adamtsl1
|
UTSW |
4 |
86,306,762 (GRCm39) |
missense |
probably benign |
0.19 |
R2223:Adamtsl1
|
UTSW |
4 |
86,306,762 (GRCm39) |
missense |
probably benign |
0.19 |
R2396:Adamtsl1
|
UTSW |
4 |
86,261,356 (GRCm39) |
nonsense |
probably null |
|
R2397:Adamtsl1
|
UTSW |
4 |
86,117,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R2426:Adamtsl1
|
UTSW |
4 |
86,075,025 (GRCm39) |
missense |
probably benign |
0.01 |
R3121:Adamtsl1
|
UTSW |
4 |
86,255,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R3715:Adamtsl1
|
UTSW |
4 |
86,135,213 (GRCm39) |
missense |
probably benign |
0.01 |
R3848:Adamtsl1
|
UTSW |
4 |
86,336,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R3849:Adamtsl1
|
UTSW |
4 |
86,336,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R3850:Adamtsl1
|
UTSW |
4 |
86,336,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R4194:Adamtsl1
|
UTSW |
4 |
85,972,245 (GRCm39) |
intron |
probably benign |
|
R4354:Adamtsl1
|
UTSW |
4 |
86,074,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R4795:Adamtsl1
|
UTSW |
4 |
86,162,006 (GRCm39) |
critical splice donor site |
probably null |
|
R4830:Adamtsl1
|
UTSW |
4 |
86,274,619 (GRCm39) |
missense |
probably damaging |
0.97 |
R4874:Adamtsl1
|
UTSW |
4 |
86,260,729 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4939:Adamtsl1
|
UTSW |
4 |
86,161,962 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4942:Adamtsl1
|
UTSW |
4 |
86,259,451 (GRCm39) |
nonsense |
probably null |
|
R4947:Adamtsl1
|
UTSW |
4 |
85,683,037 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4960:Adamtsl1
|
UTSW |
4 |
86,342,410 (GRCm39) |
nonsense |
probably null |
|
R4971:Adamtsl1
|
UTSW |
4 |
86,255,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R5141:Adamtsl1
|
UTSW |
4 |
86,075,087 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5213:Adamtsl1
|
UTSW |
4 |
86,303,865 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5237:Adamtsl1
|
UTSW |
4 |
86,303,906 (GRCm39) |
critical splice donor site |
probably null |
|
R5250:Adamtsl1
|
UTSW |
4 |
86,135,182 (GRCm39) |
nonsense |
probably null |
|
R5411:Adamtsl1
|
UTSW |
4 |
86,306,650 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5554:Adamtsl1
|
UTSW |
4 |
86,195,182 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5631:Adamtsl1
|
UTSW |
4 |
86,195,160 (GRCm39) |
nonsense |
probably null |
|
R5739:Adamtsl1
|
UTSW |
4 |
86,150,901 (GRCm39) |
missense |
probably damaging |
1.00 |
R5905:Adamtsl1
|
UTSW |
4 |
86,260,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R6028:Adamtsl1
|
UTSW |
4 |
86,260,561 (GRCm39) |
missense |
probably damaging |
1.00 |
R6044:Adamtsl1
|
UTSW |
4 |
86,130,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R6261:Adamtsl1
|
UTSW |
4 |
86,255,115 (GRCm39) |
missense |
probably benign |
0.09 |
R6300:Adamtsl1
|
UTSW |
4 |
86,166,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R6332:Adamtsl1
|
UTSW |
4 |
86,135,248 (GRCm39) |
missense |
probably damaging |
0.96 |
R6560:Adamtsl1
|
UTSW |
4 |
86,255,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R6693:Adamtsl1
|
UTSW |
4 |
86,261,123 (GRCm39) |
missense |
probably benign |
0.27 |
R6736:Adamtsl1
|
UTSW |
4 |
86,260,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R6964:Adamtsl1
|
UTSW |
4 |
86,075,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R7064:Adamtsl1
|
UTSW |
4 |
86,260,278 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7434:Adamtsl1
|
UTSW |
4 |
86,344,115 (GRCm39) |
missense |
probably damaging |
0.99 |
R7477:Adamtsl1
|
UTSW |
4 |
86,333,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R7545:Adamtsl1
|
UTSW |
4 |
85,683,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R7556:Adamtsl1
|
UTSW |
4 |
86,195,358 (GRCm39) |
missense |
probably benign |
0.19 |
R7580:Adamtsl1
|
UTSW |
4 |
85,972,301 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7593:Adamtsl1
|
UTSW |
4 |
86,259,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R7710:Adamtsl1
|
UTSW |
4 |
86,150,810 (GRCm39) |
missense |
|
|
R7908:Adamtsl1
|
UTSW |
4 |
86,274,676 (GRCm39) |
missense |
probably benign |
0.02 |
R7934:Adamtsl1
|
UTSW |
4 |
86,161,962 (GRCm39) |
missense |
probably damaging |
1.00 |
R8056:Adamtsl1
|
UTSW |
4 |
86,260,269 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8109:Adamtsl1
|
UTSW |
4 |
86,166,306 (GRCm39) |
missense |
|
|
R8143:Adamtsl1
|
UTSW |
4 |
86,260,492 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8205:Adamtsl1
|
UTSW |
4 |
86,117,650 (GRCm39) |
makesense |
probably null |
|
R8215:Adamtsl1
|
UTSW |
4 |
86,261,382 (GRCm39) |
missense |
probably benign |
0.45 |
R8250:Adamtsl1
|
UTSW |
4 |
86,260,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R8261:Adamtsl1
|
UTSW |
4 |
86,195,120 (GRCm39) |
missense |
probably damaging |
0.99 |
R8417:Adamtsl1
|
UTSW |
4 |
86,074,926 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8494:Adamtsl1
|
UTSW |
4 |
86,240,221 (GRCm39) |
missense |
probably damaging |
0.99 |
R8516:Adamtsl1
|
UTSW |
4 |
86,260,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R8525:Adamtsl1
|
UTSW |
4 |
86,195,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R8688:Adamtsl1
|
UTSW |
4 |
86,166,263 (GRCm39) |
missense |
|
|
R8698:Adamtsl1
|
UTSW |
4 |
86,306,714 (GRCm39) |
missense |
probably benign |
0.01 |
R8778:Adamtsl1
|
UTSW |
4 |
85,432,687 (GRCm39) |
missense |
probably benign |
0.01 |
R9015:Adamtsl1
|
UTSW |
4 |
86,150,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R9127:Adamtsl1
|
UTSW |
4 |
86,208,027 (GRCm39) |
missense |
probably benign |
|
R9326:Adamtsl1
|
UTSW |
4 |
86,150,804 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9336:Adamtsl1
|
UTSW |
4 |
86,240,264 (GRCm39) |
missense |
probably benign |
0.00 |
R9394:Adamtsl1
|
UTSW |
4 |
86,135,225 (GRCm39) |
missense |
|
|
R9416:Adamtsl1
|
UTSW |
4 |
86,342,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R9571:Adamtsl1
|
UTSW |
4 |
86,117,543 (GRCm39) |
missense |
probably benign |
0.00 |
R9627:Adamtsl1
|
UTSW |
4 |
86,306,762 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9675:Adamtsl1
|
UTSW |
4 |
86,161,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R9798:Adamtsl1
|
UTSW |
4 |
86,074,927 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Adamtsl1
|
UTSW |
4 |
86,260,930 (GRCm39) |
missense |
probably benign |
0.30 |
Z1176:Adamtsl1
|
UTSW |
4 |
86,260,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCCTCAGAAACAGCTATTTGCCCC -3'
(R):5'- GGCAAGCACCTCATTTGTATCTCCC -3'
Sequencing Primer
(F):5'- TGCAATTACCAGCATGACTTC -3'
(R):5'- GTATCTCCCTGTCAGGTAAAACTG -3'
|
Posted On |
2013-05-23 |