Incidental Mutation 'PIT4378001:Adamtsl1'
| ID |
554979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl1
|
| Ensembl Gene |
ENSMUSG00000066113 |
| Gene Name |
ADAMTS-like 1 |
| Synonyms |
punctin-1, 5930437A14Rik, 6720426B09Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
PIT4378001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
85432409-86346622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86117601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 188
(V188A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048885]
[ENSMUST00000107178]
[ENSMUST00000120678]
[ENSMUST00000141889]
|
| AlphaFold |
Q8BLI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048885
AA Change: V188A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043073
Gene: ENSMUSG00000066113
AA Change: V188A
| 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 damaging
Transcript: ENSMUST00000107178
AA Change: V188A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
AA Change: V188A
| 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 |
possibly damaging
Transcript: ENSMUST00000120678
AA Change: V188A
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113330
Gene: ENSMUSG00000066113
AA Change: V188A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
TSP1
|
36 |
82 |
8.95e-7 |
SMART |
|
Blast:TSP1
|
108 |
157 |
5e-9 |
BLAST |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000123343
Gene: ENSMUSG00000066113
AA Change: V16A
| 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 damaging
Transcript: ENSMUST00000141889
AA Change: V188A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: V188A
| 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 |
|
| Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.8%
- 10x: 85.0%
- 20x: 72.2%
|
| Validation Efficiency |
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310033P09Rik |
T |
C |
11: 59,099,802 (GRCm39) |
V100A |
probably benign |
Het |
| Aldh6a1 |
T |
C |
12: 84,488,646 (GRCm39) |
D80G |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,509,412 (GRCm39) |
Q62R |
possibly damaging |
Het |
| Aopep |
T |
C |
13: 63,163,021 (GRCm39) |
L14P |
probably damaging |
Het |
| Arrdc1 |
T |
A |
2: 24,816,645 (GRCm39) |
Y177F |
probably damaging |
Het |
| Asap1 |
C |
T |
15: 64,007,697 (GRCm39) |
R384Q |
probably damaging |
Het |
| Atxn2l |
A |
T |
7: 126,096,443 (GRCm39) |
V433D |
probably benign |
Het |
| Bbs1 |
G |
A |
19: 4,941,703 (GRCm39) |
A529V |
probably benign |
Het |
| Bbx |
G |
A |
16: 50,100,836 (GRCm39) |
R20* |
probably null |
Het |
| Bend5 |
T |
C |
4: 111,288,304 (GRCm39) |
V106A |
probably benign |
Het |
| C1galt1 |
A |
G |
6: 7,863,944 (GRCm39) |
N8S |
probably benign |
Het |
| Cdc42ep1 |
G |
A |
15: 78,733,880 (GRCm39) |
D327N |
possibly damaging |
Het |
| Cep162 |
A |
G |
9: 87,099,198 (GRCm39) |
S767P |
probably benign |
Het |
| Cep43 |
T |
C |
17: 8,401,105 (GRCm39) |
S209P |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,945,728 (GRCm39) |
T3562A |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,570,362 (GRCm39) |
S1815P |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,697,320 (GRCm39) |
L136Q |
probably damaging |
Het |
| Extl2 |
T |
G |
3: 115,804,339 (GRCm39) |
M1R |
probably null |
Het |
| Fat3 |
T |
C |
9: 16,288,104 (GRCm39) |
E473G |
probably benign |
Het |
| Fcgbpl1 |
G |
A |
7: 27,853,889 (GRCm39) |
D1618N |
possibly damaging |
Het |
| Fhip1a |
A |
G |
3: 85,637,858 (GRCm39) |
L147P |
probably damaging |
Het |
| G6pc3 |
T |
A |
11: 102,080,827 (GRCm39) |
W26R |
probably damaging |
Het |
| Hc |
T |
A |
2: 34,921,876 (GRCm39) |
Y610F |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,552,368 (GRCm39) |
D77G |
probably damaging |
Het |
| Hgf |
T |
C |
5: 16,816,860 (GRCm39) |
V497A |
probably damaging |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Hyou1 |
A |
C |
9: 44,302,148 (GRCm39) |
D968A |
probably benign |
Het |
| Jmjd1c |
T |
A |
10: 67,065,692 (GRCm39) |
S1525T |
probably damaging |
Het |
| Kcnc4 |
G |
A |
3: 107,354,879 (GRCm39) |
T523I |
probably benign |
Het |
| Kcng1 |
C |
T |
2: 168,104,604 (GRCm39) |
C414Y |
probably damaging |
Het |
| Klhdc10 |
T |
C |
6: 30,447,411 (GRCm39) |
I204T |
probably damaging |
Het |
| Krt18 |
A |
T |
15: 101,938,358 (GRCm39) |
T194S |
probably benign |
Het |
| Krt76 |
A |
C |
15: 101,800,842 (GRCm39) |
N151K |
probably damaging |
Het |
| Krtap31-2 |
A |
G |
11: 99,827,542 (GRCm39) |
T125A |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,831,238 (GRCm39) |
V1807A |
possibly damaging |
Het |
| Lats1 |
T |
G |
10: 7,581,369 (GRCm39) |
V718G |
probably damaging |
Het |
| Mef2b |
A |
G |
8: 70,616,910 (GRCm39) |
K4E |
probably damaging |
Het |
| Mertk |
T |
C |
2: 128,624,537 (GRCm39) |
|
probably null |
Het |
| Mroh8 |
A |
G |
2: 157,070,620 (GRCm39) |
V577A |
possibly damaging |
Het |
| Mtcl1 |
T |
G |
17: 66,745,274 (GRCm39) |
N381T |
probably damaging |
Het |
| Nfyc |
T |
A |
4: 120,647,688 (GRCm39) |
|
probably null |
Het |
| Nol4 |
C |
A |
18: 23,172,933 (GRCm39) |
W56L |
probably damaging |
Het |
| Notch2 |
A |
T |
3: 98,050,272 (GRCm39) |
D1849V |
probably damaging |
Het |
| Or10ad1 |
G |
A |
15: 98,105,452 (GRCm39) |
T271I |
probably damaging |
Het |
| Or10j7 |
T |
C |
1: 173,011,381 (GRCm39) |
T207A |
probably benign |
Het |
| Or14c45 |
A |
T |
7: 86,176,306 (GRCm39) |
T114S |
possibly damaging |
Het |
| Or4n4b |
T |
C |
14: 50,536,355 (GRCm39) |
N137S |
probably benign |
Het |
| Or5an10 |
A |
G |
19: 12,276,076 (GRCm39) |
M140T |
probably damaging |
Het |
| Or7g28 |
T |
A |
9: 19,272,471 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or8s5 |
A |
G |
15: 98,238,153 (GRCm39) |
V239A |
possibly damaging |
Het |
| Oxr1 |
G |
A |
15: 41,664,978 (GRCm39) |
V138I |
probably benign |
Het |
| Pars2 |
A |
G |
4: 106,511,490 (GRCm39) |
E424G |
possibly damaging |
Het |
| Peli2 |
C |
A |
14: 48,405,726 (GRCm39) |
Y50* |
probably null |
Het |
| Plag1 |
T |
A |
4: 3,905,492 (GRCm39) |
H66L |
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,771,079 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
T |
16: 72,801,423 (GRCm39) |
S1016C |
probably damaging |
Het |
| Rrbp1 |
A |
G |
2: 143,816,460 (GRCm39) |
V723A |
probably benign |
Het |
| Sgip1 |
C |
A |
4: 102,778,280 (GRCm39) |
D292E |
unknown |
Het |
| Skint4 |
T |
A |
4: 111,944,232 (GRCm39) |
C23S |
probably benign |
Het |
| Slc22a28 |
A |
C |
19: 8,049,279 (GRCm39) |
S323R |
probably damaging |
Het |
| Slc41a3 |
A |
G |
6: 90,617,891 (GRCm39) |
T306A |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,987,445 (GRCm39) |
M868V |
probably damaging |
Het |
| Spata6 |
T |
G |
4: 111,603,378 (GRCm39) |
I31S |
possibly damaging |
Het |
| Sycp3 |
A |
T |
10: 88,302,366 (GRCm39) |
K119* |
probably null |
Het |
| Tlk2 |
T |
A |
11: 105,172,046 (GRCm39) |
S739T |
unknown |
Het |
| Trim10 |
T |
C |
17: 37,188,020 (GRCm39) |
V412A |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,211,765 (GRCm39) |
F377I |
probably benign |
Het |
| Uck1 |
T |
A |
2: 32,146,046 (GRCm39) |
H283L |
probably damaging |
Het |
| Unc5a |
T |
C |
13: 55,143,681 (GRCm39) |
Y122H |
possibly damaging |
Het |
| Uncx |
C |
T |
5: 139,530,377 (GRCm39) |
R152* |
probably null |
Het |
| Usp44 |
A |
G |
10: 93,681,517 (GRCm39) |
|
probably benign |
Het |
| Vamp2 |
A |
C |
11: 68,980,564 (GRCm39) |
D44A |
probably benign |
Het |
| Vmn2r83 |
A |
G |
10: 79,304,849 (GRCm39) |
T20A |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,221,784 (GRCm39) |
I812N |
probably damaging |
Het |
| Vrtn |
T |
G |
12: 84,695,943 (GRCm39) |
L231R |
probably damaging |
Het |
| Wdr75 |
A |
G |
1: 45,859,333 (GRCm39) |
T677A |
probably damaging |
Het |
| Xylt1 |
C |
A |
7: 117,148,100 (GRCm39) |
S221R |
possibly damaging |
Het |
| Zscan22 |
A |
G |
7: 12,637,983 (GRCm39) |
E125G |
possibly damaging |
Het |
| Zxdc |
A |
T |
6: 90,350,698 (GRCm39) |
H383L |
probably damaging |
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 |
|
|
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 |
|
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'- CTCAGAGATGATGGGTGTGGAC -3'
(R):5'- CAACTGGTGATCTGATTTGTCCC -3'
Sequencing Primer
(F):5'- GGACATCACTTGTTAGCCATTGGC -3'
(R):5'- GATCTGATTTGTCCCACATAAATCC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation