Incidental Mutation 'R0496:Adamtsl1'
| ID |
43916 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl1
|
| Ensembl Gene |
ENSMUSG00000066113 |
| Gene Name |
ADAMTS-like 1 |
| Synonyms |
punctin-1, 5930437A14Rik, 6720426B09Rik |
| MMRRC Submission |
038692-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R0496 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
85432409-86346622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86259435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 827
(C827Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107178]
[ENSMUST00000141889]
|
| AlphaFold |
Q8BLI0 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107177
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107178
AA Change: C827Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
AA Change: C827Y
| 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 damaging
Transcript: ENSMUST00000141889
AA Change: C819Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: C819Y
| 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 |
0.4363 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
98% (99/101) |
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,774,005 (GRCm39) |
K1065E |
probably damaging |
Het |
| 4933402N03Rik |
T |
C |
7: 130,747,860 (GRCm39) |
N44S |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,241,701 (GRCm39) |
D1188G |
probably benign |
Het |
| Abcb11 |
C |
T |
2: 69,108,228 (GRCm39) |
|
probably benign |
Het |
| Abcc8 |
A |
T |
7: 45,758,244 (GRCm39) |
I1274N |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,706,241 (GRCm39) |
V369E |
probably damaging |
Het |
| Ankrd13b |
G |
A |
11: 77,363,867 (GRCm39) |
R195C |
probably damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,609,446 (GRCm39) |
|
probably benign |
Het |
| Arhgef40 |
A |
T |
14: 52,242,364 (GRCm39) |
|
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,991,182 (GRCm39) |
I692V |
probably benign |
Het |
| Atp5f1b |
G |
T |
10: 127,922,043 (GRCm39) |
R310L |
possibly damaging |
Het |
| AY358078 |
A |
T |
14: 52,040,989 (GRCm39) |
M103L |
unknown |
Het |
| Bcl9l |
T |
G |
9: 44,420,815 (GRCm39) |
V1370G |
probably benign |
Het |
| Bglap3 |
T |
A |
3: 88,276,444 (GRCm39) |
Q38L |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,041,784 (GRCm39) |
T2721A |
probably damaging |
Het |
| Ccn2 |
G |
T |
10: 24,473,413 (GRCm39) |
M317I |
possibly damaging |
Het |
| Cd38 |
T |
C |
5: 44,026,233 (GRCm39) |
F6L |
probably damaging |
Het |
| Cela3a |
A |
C |
4: 137,131,779 (GRCm39) |
V138G |
probably damaging |
Het |
| Cemip2 |
A |
T |
19: 21,774,709 (GRCm39) |
N117I |
possibly damaging |
Het |
| Clvs1 |
T |
A |
4: 9,424,241 (GRCm39) |
I229N |
probably damaging |
Het |
| Cpne1 |
G |
A |
2: 155,921,339 (GRCm39) |
H16Y |
probably damaging |
Het |
| Ctc1 |
T |
C |
11: 68,926,333 (GRCm39) |
L1069P |
probably damaging |
Het |
| Dgkd |
G |
A |
1: 87,864,622 (GRCm39) |
S996N |
probably null |
Het |
| Dnah9 |
A |
T |
11: 65,965,961 (GRCm39) |
M1685K |
probably null |
Het |
| Dnajb12 |
C |
T |
10: 59,715,623 (GRCm39) |
R42* |
probably null |
Het |
| Dock5 |
T |
C |
14: 68,054,967 (GRCm39) |
Q633R |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,155,180 (GRCm39) |
M868T |
probably benign |
Het |
| Enpp1 |
G |
T |
10: 24,547,950 (GRCm39) |
H208Q |
probably benign |
Het |
| Epha7 |
T |
A |
4: 28,821,292 (GRCm39) |
D152E |
probably damaging |
Het |
| Fancd2 |
T |
C |
6: 113,532,091 (GRCm39) |
|
probably benign |
Het |
| Gart |
G |
A |
16: 91,419,925 (GRCm39) |
|
probably benign |
Het |
| Gm10964 |
A |
T |
3: 103,646,745 (GRCm39) |
|
probably null |
Het |
| Gpbar1 |
T |
C |
1: 74,318,140 (GRCm39) |
F128L |
probably benign |
Het |
| Gsx2 |
T |
A |
5: 75,237,726 (GRCm39) |
M226K |
probably benign |
Het |
| Gucd1 |
T |
C |
10: 75,347,100 (GRCm39) |
D50G |
possibly damaging |
Het |
| Has1 |
A |
G |
17: 18,064,008 (GRCm39) |
Y544H |
probably benign |
Het |
| Hc |
A |
T |
2: 34,903,583 (GRCm39) |
Y1024N |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
A |
6: 115,882,863 (GRCm39) |
H659Q |
probably benign |
Het |
| Itga2 |
T |
C |
13: 114,990,435 (GRCm39) |
Q902R |
probably benign |
Het |
| Itgb2l |
T |
C |
16: 96,235,901 (GRCm39) |
K181E |
possibly damaging |
Het |
| Jak3 |
A |
T |
8: 72,135,041 (GRCm39) |
H558L |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,032,886 (GRCm39) |
T58A |
probably benign |
Het |
| Klhl6 |
GT |
G |
16: 19,775,716 (GRCm39) |
279 |
probably null |
Het |
| Krt33a |
C |
T |
11: 99,903,155 (GRCm39) |
|
probably benign |
Het |
| Magi2 |
A |
T |
5: 20,866,357 (GRCm39) |
|
probably benign |
Het |
| Map4 |
G |
A |
9: 109,868,918 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
T |
A |
1: 40,045,982 (GRCm39) |
S754T |
probably damaging |
Het |
| Mapk8ip3 |
A |
G |
17: 25,133,424 (GRCm39) |
|
probably benign |
Het |
| Mib1 |
A |
G |
18: 10,804,773 (GRCm39) |
S918G |
probably benign |
Het |
| Mipol1 |
T |
A |
12: 57,503,963 (GRCm39) |
V377D |
probably damaging |
Het |
| Mlh1 |
T |
C |
9: 111,070,624 (GRCm39) |
T364A |
probably benign |
Het |
| Mta1 |
C |
T |
12: 113,094,941 (GRCm39) |
Q400* |
probably null |
Het |
| Mthfd1l |
C |
G |
10: 4,040,006 (GRCm39) |
R806G |
probably benign |
Het |
| Myh13 |
C |
A |
11: 67,239,641 (GRCm39) |
N730K |
probably damaging |
Het |
| Myom1 |
A |
G |
17: 71,391,301 (GRCm39) |
K937E |
probably damaging |
Het |
| Naxd |
T |
C |
8: 11,560,224 (GRCm39) |
|
probably benign |
Het |
| Negr1 |
G |
T |
3: 156,721,904 (GRCm39) |
K159N |
probably damaging |
Het |
| Nwd2 |
G |
T |
5: 63,963,686 (GRCm39) |
W1090L |
probably damaging |
Het |
| Or1e1f |
T |
C |
11: 73,855,706 (GRCm39) |
S91P |
probably benign |
Het |
| Or2j3 |
A |
G |
17: 38,615,549 (GRCm39) |
S268P |
probably damaging |
Het |
| Or51v14 |
C |
T |
7: 103,261,204 (GRCm39) |
A119T |
probably benign |
Het |
| Or52r1c |
T |
C |
7: 102,734,797 (GRCm39) |
I19T |
probably damaging |
Het |
| Or5d41 |
A |
T |
2: 88,054,499 (GRCm39) |
Y292* |
probably null |
Het |
| Pcsk6 |
G |
A |
7: 65,576,997 (GRCm39) |
S58N |
probably benign |
Het |
| Pdzrn3 |
G |
A |
6: 101,127,531 (GRCm39) |
T1045I |
possibly damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,618,750 (GRCm39) |
L641P |
probably damaging |
Het |
| Pkd1l1 |
G |
T |
11: 8,879,430 (GRCm39) |
H474N |
probably damaging |
Het |
| Pltp |
A |
G |
2: 164,694,381 (GRCm39) |
|
probably benign |
Het |
| Qtrt1 |
C |
T |
9: 21,330,844 (GRCm39) |
T324M |
probably benign |
Het |
| Racgap1 |
A |
T |
15: 99,537,713 (GRCm39) |
|
probably benign |
Het |
| Rhbg |
A |
G |
3: 88,161,805 (GRCm39) |
V50A |
probably benign |
Het |
| Rnf135 |
G |
A |
11: 80,074,776 (GRCm39) |
V12M |
probably damaging |
Het |
| Rnf7l |
G |
T |
10: 63,257,381 (GRCm39) |
C46* |
probably null |
Het |
| Rufy2 |
T |
C |
10: 62,828,949 (GRCm39) |
V117A |
probably damaging |
Het |
| Safb |
A |
G |
17: 56,912,630 (GRCm39) |
M866V |
probably benign |
Het |
| Slc35c2 |
G |
T |
2: 165,122,735 (GRCm39) |
T183K |
probably damaging |
Het |
| Slc39a7 |
A |
G |
17: 34,248,512 (GRCm39) |
L377P |
probably damaging |
Het |
| Slit1 |
G |
A |
19: 41,596,750 (GRCm39) |
|
probably benign |
Het |
| Spaca9 |
G |
A |
2: 28,583,022 (GRCm39) |
H133Y |
probably damaging |
Het |
| Spout1 |
A |
G |
2: 30,064,983 (GRCm39) |
F339S |
probably benign |
Het |
| St6gal2 |
A |
G |
17: 55,789,015 (GRCm39) |
I16M |
probably damaging |
Het |
| Stat2 |
T |
C |
10: 128,112,378 (GRCm39) |
M6T |
probably benign |
Het |
| Swt1 |
T |
A |
1: 151,287,021 (GRCm39) |
H157L |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,085,714 (GRCm39) |
N147D |
possibly damaging |
Het |
| Tmem222 |
A |
T |
4: 133,004,902 (GRCm39) |
M45K |
possibly damaging |
Het |
| Tmem30a |
T |
A |
9: 79,684,567 (GRCm39) |
H95L |
probably damaging |
Het |
| Tns3 |
A |
C |
11: 8,497,262 (GRCm39) |
|
probably benign |
Het |
| Trpm3 |
A |
G |
19: 22,676,142 (GRCm39) |
I103V |
probably benign |
Het |
| Ube2n |
T |
C |
10: 95,377,206 (GRCm39) |
F57S |
probably benign |
Het |
| Vil1 |
T |
C |
1: 74,460,499 (GRCm39) |
S219P |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,862,695 (GRCm39) |
|
probably benign |
Het |
| Wdr7 |
T |
C |
18: 63,924,914 (GRCm39) |
S966P |
probably benign |
Het |
| Wnt8a |
A |
G |
18: 34,677,900 (GRCm39) |
N103D |
probably damaging |
Het |
| Zfp523 |
G |
A |
17: 28,419,419 (GRCm39) |
E186K |
possibly damaging |
Het |
| Zfp791 |
A |
T |
8: 85,836,609 (GRCm39) |
D418E |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,485,682 (GRCm39) |
V192A |
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 |
|
R0480:Adamtsl1
|
UTSW |
4 |
86,171,055 (GRCm39) |
missense |
probably benign |
0.08 |
|
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'- TTCAGTGGCTGATACTTTGCCCAG -3'
(R):5'- ACCCGAGTGACTACGATTCCCTTTC -3'
Sequencing Primer
(F):5'- gcaacccttcaatacagttcc -3'
(R):5'- GACTACGATTCCCTTTCATCTCCAG -3'
|
| Posted On |
2013-05-29 |
Incidental Mutation