Incidental Mutation 'R4795:Adamtsl1'
| ID |
368918 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl1
|
| Ensembl Gene |
ENSMUSG00000066113 |
| Gene Name |
ADAMTS-like 1 |
| Synonyms |
punctin-1, 5930437A14Rik, 6720426B09Rik |
| MMRRC Submission |
041996-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R4795 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
85432409-86346622 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 86162006 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048885]
[ENSMUST00000107178]
[ENSMUST00000141889]
|
| AlphaFold |
Q8BLI0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048885
|
| SMART Domains |
Protein: ENSMUSP00000043073
Gene: ENSMUSG00000066113
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
| 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 null
Transcript: ENSMUST00000141889
|
| SMART Domains |
Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
| 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 |
0.9494 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
98% (123/125) |
| 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: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
G |
3: 121,969,772 (GRCm39) |
L2259R |
probably damaging |
Het |
| Acd |
A |
G |
8: 106,427,647 (GRCm39) |
S2P |
possibly damaging |
Het |
| Acsf3 |
A |
G |
8: 123,506,896 (GRCm39) |
Y63C |
possibly damaging |
Het |
| Adam21 |
T |
C |
12: 81,607,748 (GRCm39) |
I5V |
probably benign |
Het |
| Adamts6 |
C |
A |
13: 104,580,636 (GRCm39) |
S783* |
probably null |
Het |
| Adck2 |
T |
A |
6: 39,553,327 (GRCm39) |
S313T |
probably benign |
Het |
| Adgb |
A |
G |
10: 10,233,616 (GRCm39) |
I1285T |
probably benign |
Het |
| Angptl1 |
T |
A |
1: 156,688,153 (GRCm39) |
M485K |
possibly damaging |
Het |
| Ank3 |
G |
A |
10: 69,694,095 (GRCm39) |
V289I |
probably benign |
Het |
| Atp13a4 |
A |
G |
16: 29,308,826 (GRCm39) |
|
probably null |
Het |
| Atp1a1 |
A |
G |
3: 101,491,091 (GRCm39) |
L648P |
probably benign |
Het |
| Atp2a3 |
A |
G |
11: 72,863,855 (GRCm39) |
I194V |
probably benign |
Het |
| Bglap |
A |
C |
3: 88,291,712 (GRCm39) |
I4S |
unknown |
Het |
| Cacna1b |
T |
A |
2: 24,527,499 (GRCm39) |
T1621S |
possibly damaging |
Het |
| Ccdc112 |
T |
A |
18: 46,420,739 (GRCm39) |
Q337L |
probably benign |
Het |
| Ccdc121rt3 |
A |
G |
5: 112,503,165 (GRCm39) |
S180P |
possibly damaging |
Het |
| Cd34 |
T |
G |
1: 194,633,319 (GRCm39) |
S194A |
probably damaging |
Het |
| Cdh20 |
A |
G |
1: 104,868,989 (GRCm39) |
D160G |
probably damaging |
Het |
| Clock |
T |
C |
5: 76,413,763 (GRCm39) |
K44R |
probably damaging |
Het |
| Commd9 |
A |
G |
2: 101,729,241 (GRCm39) |
N116D |
probably benign |
Het |
| Dab2 |
C |
A |
15: 6,459,092 (GRCm39) |
P335T |
probably benign |
Het |
| Epb41l3 |
T |
A |
17: 69,555,714 (GRCm39) |
|
probably null |
Het |
| Epha2 |
A |
G |
4: 141,049,727 (GRCm39) |
|
probably null |
Het |
| Fam78b |
T |
C |
1: 166,906,216 (GRCm39) |
V125A |
probably benign |
Het |
| Fars2 |
A |
T |
13: 36,721,400 (GRCm39) |
E448V |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Glyr1 |
A |
C |
16: 4,865,622 (GRCm39) |
V44G |
probably benign |
Het |
| Gm1527 |
A |
G |
3: 28,974,812 (GRCm39) |
I542V |
possibly damaging |
Het |
| Gm18856 |
C |
A |
13: 14,139,793 (GRCm39) |
|
probably benign |
Het |
| Gm44501 |
A |
G |
17: 40,889,605 (GRCm39) |
K40E |
probably benign |
Het |
| Hdhd5 |
T |
C |
6: 120,500,407 (GRCm39) |
H97R |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,629,362 (GRCm39) |
V965A |
probably benign |
Het |
| Hsf5 |
A |
G |
11: 87,526,446 (GRCm39) |
M373V |
probably benign |
Het |
| Igbp1b |
C |
T |
6: 138,634,803 (GRCm39) |
E214K |
probably benign |
Het |
| Iigp1 |
T |
A |
18: 60,522,964 (GRCm39) |
F27L |
probably benign |
Het |
| Isl1 |
T |
C |
13: 116,441,966 (GRCm39) |
N89S |
probably benign |
Het |
| Itga1 |
C |
A |
13: 115,171,921 (GRCm39) |
W61C |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,256,187 (GRCm39) |
R922G |
probably benign |
Het |
| Kbtbd3 |
G |
A |
9: 4,331,073 (GRCm39) |
W482* |
probably null |
Het |
| Kcnq1 |
A |
G |
7: 142,736,494 (GRCm39) |
T168A |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,826,074 (GRCm39) |
N631S |
probably damaging |
Het |
| Lrrk1 |
T |
A |
7: 65,912,413 (GRCm39) |
I1716F |
possibly damaging |
Het |
| Ly75 |
T |
C |
2: 60,180,284 (GRCm39) |
E631G |
probably benign |
Het |
| Map4 |
T |
C |
9: 109,864,331 (GRCm39) |
S519P |
probably benign |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mrtfa |
C |
T |
15: 80,901,234 (GRCm39) |
S419N |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,403,304 (GRCm39) |
E755G |
unknown |
Het |
| Ncaph2 |
T |
G |
15: 89,255,010 (GRCm39) |
V478G |
probably damaging |
Het |
| Ncbp1 |
A |
G |
4: 46,152,967 (GRCm39) |
R247G |
possibly damaging |
Het |
| Necab1 |
G |
T |
4: 15,111,208 (GRCm39) |
D73E |
possibly damaging |
Het |
| Nedd9 |
T |
C |
13: 41,471,376 (GRCm39) |
K208E |
probably benign |
Het |
| Nfyb |
A |
T |
10: 82,588,202 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
T |
C |
18: 23,054,944 (GRCm39) |
Q162R |
probably damaging |
Het |
| Nwd2 |
G |
A |
5: 63,962,776 (GRCm39) |
D787N |
probably benign |
Het |
| Olfr908 |
T |
A |
9: 38,427,799 (GRCm39) |
M157K |
probably damaging |
Het |
| Or10a5 |
A |
T |
7: 106,636,121 (GRCm39) |
Y253F |
probably benign |
Het |
| Or11g7 |
A |
C |
14: 50,690,874 (GRCm39) |
M122L |
probably damaging |
Het |
| Or13a22 |
A |
G |
7: 140,072,920 (GRCm39) |
D123G |
probably damaging |
Het |
| Or5ac23 |
C |
T |
16: 59,149,213 (GRCm39) |
V220I |
probably benign |
Het |
| Or6a2 |
C |
T |
7: 106,600,542 (GRCm39) |
G175D |
probably damaging |
Het |
| Or6e1 |
A |
G |
14: 54,520,004 (GRCm39) |
M116T |
probably damaging |
Het |
| Orai3 |
T |
C |
7: 127,373,060 (GRCm39) |
V187A |
probably benign |
Het |
| Parn |
T |
C |
16: 13,424,066 (GRCm39) |
T444A |
probably benign |
Het |
| Pcdh11x |
A |
C |
X: 119,309,937 (GRCm39) |
N460T |
probably damaging |
Het |
| Pcnt |
C |
T |
10: 76,205,858 (GRCm39) |
R2516H |
probably benign |
Het |
| Pde4d |
T |
A |
13: 110,074,705 (GRCm39) |
|
probably benign |
Het |
| Pdgfra |
A |
G |
5: 75,349,972 (GRCm39) |
N952S |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,261,217 (GRCm39) |
Y237C |
probably damaging |
Het |
| Plcb2 |
A |
G |
2: 118,541,605 (GRCm39) |
V975A |
probably benign |
Het |
| Polk |
T |
C |
13: 96,625,764 (GRCm39) |
T347A |
probably benign |
Het |
| Ppp6r1 |
C |
T |
7: 4,644,053 (GRCm39) |
V430M |
possibly damaging |
Het |
| Ptges2 |
C |
A |
2: 32,286,334 (GRCm39) |
C16* |
probably null |
Het |
| Relb |
A |
T |
7: 19,353,764 (GRCm39) |
I38N |
probably damaging |
Het |
| Runx1t1 |
T |
A |
4: 13,837,767 (GRCm39) |
N51K |
probably damaging |
Het |
| Samsn1 |
A |
G |
16: 75,680,733 (GRCm39) |
|
probably benign |
Het |
| Scrn1 |
A |
G |
6: 54,497,754 (GRCm39) |
V279A |
possibly damaging |
Het |
| Sec31b |
A |
G |
19: 44,520,185 (GRCm39) |
S200P |
probably benign |
Het |
| Selp |
A |
G |
1: 163,972,475 (GRCm39) |
T705A |
probably benign |
Het |
| Slc2a1 |
G |
A |
4: 118,989,642 (GRCm39) |
R61Q |
probably damaging |
Het |
| Slit3 |
G |
A |
11: 35,542,647 (GRCm39) |
|
probably null |
Het |
| Smo |
T |
A |
6: 29,755,573 (GRCm39) |
V415E |
probably damaging |
Het |
| Spag8 |
C |
A |
4: 43,652,035 (GRCm39) |
V350L |
possibly damaging |
Het |
| Tbck |
T |
G |
3: 132,413,559 (GRCm39) |
L132R |
possibly damaging |
Het |
| Thnsl1 |
T |
A |
2: 21,216,856 (GRCm39) |
C203* |
probably null |
Het |
| Tm9sf2 |
T |
A |
14: 122,387,252 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
A |
G |
1: 36,880,757 (GRCm39) |
V171A |
probably damaging |
Het |
| Tmem209 |
T |
C |
6: 30,501,954 (GRCm39) |
T83A |
probably benign |
Het |
| Tmem63a |
T |
C |
1: 180,782,416 (GRCm39) |
Y138H |
probably damaging |
Het |
| Trim80 |
A |
G |
11: 115,338,769 (GRCm39) |
Y533C |
probably damaging |
Het |
| Trpv2 |
A |
G |
11: 62,472,006 (GRCm39) |
D66G |
possibly damaging |
Het |
| Trrap |
T |
A |
5: 144,769,298 (GRCm39) |
I2620N |
probably benign |
Het |
| Ttyh3 |
A |
T |
5: 140,620,541 (GRCm39) |
I232N |
probably damaging |
Het |
| Ube2dnl1 |
G |
A |
X: 113,815,482 (GRCm39) |
C119Y |
possibly damaging |
Het |
| Unc13c |
T |
A |
9: 73,839,469 (GRCm39) |
S461C |
probably damaging |
Het |
| Unc80 |
T |
G |
1: 66,567,100 (GRCm39) |
I902S |
probably damaging |
Het |
| Usp42 |
C |
A |
5: 143,709,692 (GRCm39) |
G170W |
probably damaging |
Het |
| Vldlr |
T |
C |
19: 27,216,252 (GRCm39) |
|
probably null |
Het |
| Ywhab |
A |
G |
2: 163,857,265 (GRCm39) |
Y180C |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,379,112 (GRCm39) |
C5329* |
probably null |
Het |
| Zbtb40 |
C |
T |
4: 136,725,953 (GRCm39) |
M535I |
probably benign |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zfp318 |
A |
G |
17: 46,722,988 (GRCm39) |
T1664A |
probably benign |
Het |
| Zfp7 |
T |
A |
15: 76,775,546 (GRCm39) |
C529* |
probably null |
Het |
| Zfp768 |
T |
C |
7: 126,942,547 (GRCm39) |
Q527R |
possibly damaging |
Het |
| Zfp975 |
T |
A |
7: 42,314,570 (GRCm39) |
|
probably null |
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 |
|
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'- TTCAAAGGCCTTTCCCCAG -3'
(R):5'- CGGCCAGGATTACTCAAGAG -3'
Sequencing Primer
(F):5'- TTTCCCCAGCCTACAACATATGCTAG -3'
(R):5'- ACGGCTCTGCATTGTTAC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation