Incidental Mutation 'R8698:Adamtsl1'
| ID |
668830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl1
|
| Ensembl Gene |
ENSMUSG00000066113 |
| Gene Name |
ADAMTS-like 1 |
| Synonyms |
punctin-1, 5930437A14Rik, 6720426B09Rik |
| MMRRC Submission |
068552-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.238)
|
| Stock # |
R8698 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
85432409-86346622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86306714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1384
(N1384S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107178]
[ENSMUST00000141889]
|
| AlphaFold |
Q8BLI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107178
AA Change: N1384S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
AA Change: N1384S
| 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: ENSMUST00000141889
AA Change: N1376S
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: N1376S
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
G |
15: 102,247,250 (GRCm39) |
|
probably benign |
Het |
| Adgre1 |
T |
C |
17: 57,709,003 (GRCm39) |
S65P |
probably benign |
Het |
| Adgrl4 |
G |
T |
3: 151,203,512 (GRCm39) |
C124F |
probably damaging |
Het |
| Aldh1b1 |
G |
A |
4: 45,802,942 (GRCm39) |
G160D |
probably damaging |
Het |
| Alpi |
T |
G |
1: 87,028,208 (GRCm39) |
D205A |
probably damaging |
Het |
| AW146154 |
C |
A |
7: 41,129,934 (GRCm39) |
R394L |
probably benign |
Het |
| Bcl10 |
G |
A |
3: 145,639,022 (GRCm39) |
M221I |
probably benign |
Het |
| Brpf3 |
G |
A |
17: 29,037,436 (GRCm39) |
R768H |
probably damaging |
Het |
| Cad |
G |
T |
5: 31,234,819 (GRCm39) |
R2116L |
probably benign |
Het |
| Cand2 |
G |
T |
6: 115,763,852 (GRCm39) |
R258L |
probably damaging |
Het |
| Car4 |
A |
T |
11: 84,855,009 (GRCm39) |
N119I |
probably benign |
Het |
| Carmil1 |
C |
T |
13: 24,220,229 (GRCm39) |
G1165D |
probably damaging |
Het |
| Ccdc66 |
T |
C |
14: 27,212,647 (GRCm39) |
T403A |
probably benign |
Het |
| Cdon |
T |
G |
9: 35,398,269 (GRCm39) |
|
probably null |
Het |
| Cemip |
T |
C |
7: 83,607,790 (GRCm39) |
I739V |
probably damaging |
Het |
| Cep85l |
A |
G |
10: 53,234,201 (GRCm39) |
I59T |
probably damaging |
Het |
| Clec4f |
A |
T |
6: 83,630,267 (GRCm39) |
V97D |
probably benign |
Het |
| Cnot6l |
A |
G |
5: 96,225,149 (GRCm39) |
C515R |
probably damaging |
Het |
| Cntnap2 |
G |
A |
6: 47,026,156 (GRCm39) |
G935D |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,023,974 (GRCm39) |
H553R |
probably damaging |
Het |
| Cops3 |
A |
G |
11: 59,708,886 (GRCm39) |
S423P |
probably damaging |
Het |
| Cox15 |
C |
T |
19: 43,739,948 (GRCm39) |
R39H |
probably benign |
Het |
| Ctnna2 |
A |
G |
6: 77,630,100 (GRCm39) |
V131A |
probably benign |
Het |
| Dcst2 |
T |
A |
3: 89,276,044 (GRCm39) |
F392I |
probably benign |
Het |
| Decr1 |
A |
G |
4: 15,922,483 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
A |
C |
15: 73,394,154 (GRCm39) |
T60P |
possibly damaging |
Het |
| Dipk1a |
A |
T |
5: 108,057,776 (GRCm39) |
F261I |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,281,953 (GRCm39) |
N2859S |
probably benign |
Het |
| Dnah12 |
A |
T |
14: 26,428,418 (GRCm39) |
I280F |
probably benign |
Het |
| Dnah8 |
A |
C |
17: 31,094,009 (GRCm39) |
D4701A |
probably damaging |
Het |
| Dyrk1a |
C |
A |
16: 94,487,414 (GRCm39) |
H541Q |
possibly damaging |
Het |
| Eml4 |
T |
C |
17: 83,785,345 (GRCm39) |
S906P |
probably benign |
Het |
| Fam169a |
G |
T |
13: 97,243,578 (GRCm39) |
V203F |
probably damaging |
Het |
| Fmn1 |
C |
T |
2: 113,260,152 (GRCm39) |
L682F |
unknown |
Het |
| Gli2 |
T |
C |
1: 118,769,887 (GRCm39) |
Y555C |
probably damaging |
Het |
| Gm3278 |
A |
G |
14: 16,081,505 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Gm8237 |
T |
A |
14: 5,863,554 (GRCm38) |
Y37F |
probably damaging |
Het |
| Golga4 |
T |
G |
9: 118,385,029 (GRCm39) |
L717R |
probably damaging |
Het |
| Gtpbp4 |
C |
T |
13: 9,024,249 (GRCm39) |
R568H |
probably benign |
Het |
| Il1f10 |
A |
G |
2: 24,183,197 (GRCm39) |
N47S |
probably damaging |
Het |
| Itga6 |
A |
G |
2: 71,673,618 (GRCm39) |
H884R |
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,286,518 (GRCm39) |
K482R |
probably benign |
Het |
| Klk12 |
T |
C |
7: 43,419,113 (GRCm39) |
V26A |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,278,583 (GRCm39) |
R3923S |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,288,767 (GRCm39) |
V3700M |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,636,400 (GRCm39) |
D1458G |
probably benign |
Het |
| Mapre2 |
T |
A |
18: 24,011,090 (GRCm39) |
S233T |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,296,937 (GRCm39) |
D2699G |
possibly damaging |
Het |
| Mthfr |
T |
A |
4: 148,128,947 (GRCm39) |
Y214* |
probably null |
Het |
| Ncoa6 |
A |
T |
2: 155,257,041 (GRCm39) |
M834K |
possibly damaging |
Het |
| Neurl2 |
C |
T |
2: 164,675,054 (GRCm39) |
D103N |
probably benign |
Het |
| Niban3 |
T |
A |
8: 72,060,159 (GRCm39) |
I93N |
unknown |
Het |
| Or1j15 |
T |
C |
2: 36,458,915 (GRCm39) |
Y102H |
possibly damaging |
Het |
| Or2ag16 |
A |
T |
7: 106,352,571 (GRCm39) |
V8E |
probably benign |
Het |
| Or2b7 |
G |
A |
13: 21,739,890 (GRCm39) |
L101F |
probably damaging |
Het |
| P2ry14 |
A |
G |
3: 59,022,596 (GRCm39) |
V288A |
possibly damaging |
Het |
| Pde6b |
G |
T |
5: 108,576,105 (GRCm39) |
S730I |
possibly damaging |
Het |
| Pdpk1 |
A |
T |
17: 24,298,542 (GRCm39) |
V496D |
probably damaging |
Het |
| Plekho2 |
A |
T |
9: 65,463,554 (GRCm39) |
L432M |
probably damaging |
Het |
| Ppa2 |
T |
C |
3: 133,082,362 (GRCm39) |
L151P |
unknown |
Het |
| Ppp2r3c |
G |
A |
12: 55,328,499 (GRCm39) |
T422I |
probably benign |
Het |
| Prelid3a |
T |
C |
18: 67,610,122 (GRCm39) |
S151P |
probably damaging |
Het |
| Rad21l |
G |
A |
2: 151,487,373 (GRCm39) |
P537L |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,450,802 (GRCm39) |
S4283T |
probably benign |
Het |
| Samd9l |
A |
T |
6: 3,373,843 (GRCm39) |
D1139E |
probably benign |
Het |
| Scn9a |
G |
T |
2: 66,366,628 (GRCm39) |
H718Q |
probably benign |
Het |
| Slc1a3 |
A |
T |
15: 8,668,636 (GRCm39) |
I443N |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,600,889 (GRCm39) |
M361V |
probably benign |
Het |
| Slc8a2 |
A |
G |
7: 15,891,132 (GRCm39) |
Y724C |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,197,284 (GRCm39) |
S777T |
possibly damaging |
Het |
| Sltm |
T |
C |
9: 70,494,352 (GRCm39) |
S901P |
probably benign |
Het |
| Smc1b |
A |
T |
15: 84,997,047 (GRCm39) |
H524Q |
probably benign |
Het |
| Spast |
T |
C |
17: 74,666,341 (GRCm39) |
S225P |
probably benign |
Het |
| Srsf12 |
C |
T |
4: 33,231,246 (GRCm39) |
R252W |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,179,229 (GRCm39) |
L4415P |
probably damaging |
Het |
| Tmem117 |
A |
T |
15: 94,535,990 (GRCm39) |
Y8F |
probably benign |
Het |
| Tmem241 |
T |
C |
18: 12,197,288 (GRCm39) |
D180G |
possibly damaging |
Het |
| Tomm40 |
C |
T |
7: 19,444,890 (GRCm39) |
V164I |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,548,841 (GRCm39) |
Y12H |
probably benign |
Het |
| Twnk |
T |
C |
19: 44,996,299 (GRCm39) |
V244A |
probably benign |
Het |
| Ugt1a8 |
T |
C |
1: 88,015,952 (GRCm39) |
S122P |
probably damaging |
Het |
| Vmn1r78 |
A |
G |
7: 11,886,539 (GRCm39) |
K50R |
probably benign |
Het |
| Vmn2r10 |
A |
G |
5: 109,151,390 (GRCm39) |
F75L |
probably benign |
Het |
| Wbp4 |
G |
T |
14: 79,707,573 (GRCm39) |
Y179* |
probably null |
Het |
| Zfp106 |
A |
G |
2: 120,354,600 (GRCm39) |
|
probably null |
Het |
| Zfp974 |
A |
T |
7: 27,610,361 (GRCm39) |
C455S |
possibly 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 |
|
|
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 |
|
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 |
|
|
|
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'- ATTGCTGCAATGCCAGGGATAC -3'
(R):5'- AAGTTTCCACTGGTGAGTCTGG -3'
Sequencing Primer
(F):5'- TGCCAGGGATACGCACACAG -3'
(R):5'- AGTGATTTCCTGTTGGCCAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation