Incidental Mutation 'R9127:Adamtsl1'
| ID |
693312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl1
|
| Ensembl Gene |
ENSMUSG00000066113 |
| Gene Name |
ADAMTS-like 1 |
| Synonyms |
punctin-1, 5930437A14Rik, 6720426B09Rik |
| MMRRC Submission |
068926-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R9127 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
85432409-86346622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86208027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 633
(T633A)
|
| 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: T633A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
AA Change: T633A
| 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: T650A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: T650A
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (82/82) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
G |
11: 9,242,080 (GRCm39) |
D1314E |
probably benign |
Het |
| Abcb1a |
A |
T |
5: 8,724,707 (GRCm39) |
R47W |
probably benign |
Het |
| Abcc6 |
T |
C |
7: 45,629,184 (GRCm39) |
N1354S |
probably damaging |
Het |
| Abracl |
T |
C |
10: 17,887,444 (GRCm39) |
Y61C |
probably damaging |
Het |
| Agap3 |
G |
A |
5: 24,681,439 (GRCm39) |
|
probably benign |
Het |
| Ago4 |
A |
T |
4: 126,400,904 (GRCm39) |
M647K |
probably damaging |
Het |
| Akap7 |
G |
T |
10: 25,155,676 (GRCm39) |
S72R |
unknown |
Het |
| Arhgef12 |
A |
G |
9: 42,885,870 (GRCm39) |
L1251S |
possibly damaging |
Het |
| Astn2 |
A |
T |
4: 66,322,164 (GRCm39) |
V145E |
unknown |
Het |
| Atxn2l |
A |
T |
7: 126,097,393 (GRCm39) |
S304R |
probably damaging |
Het |
| Cd226 |
A |
T |
18: 89,287,155 (GRCm39) |
I318F |
probably damaging |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Cfap65 |
A |
T |
1: 74,958,510 (GRCm39) |
|
probably benign |
Het |
| Cfap96 |
T |
G |
8: 46,415,403 (GRCm39) |
D201A |
probably benign |
Het |
| Chtf8 |
A |
G |
8: 107,613,640 (GRCm39) |
V18A |
probably benign |
Het |
| Cit |
G |
T |
5: 116,074,896 (GRCm39) |
E683* |
probably null |
Het |
| Ckmt2 |
T |
C |
13: 92,007,337 (GRCm39) |
R286G |
probably damaging |
Het |
| Clec4a2 |
T |
A |
6: 123,116,218 (GRCm39) |
W128R |
probably damaging |
Het |
| Clec4n |
T |
G |
6: 123,212,447 (GRCm39) |
S88A |
probably damaging |
Het |
| Cndp2 |
G |
A |
18: 84,699,121 (GRCm39) |
A48V |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,273,286 (GRCm39) |
T849A |
probably benign |
Het |
| Cts3 |
A |
T |
13: 61,715,235 (GRCm39) |
Y199* |
probably null |
Het |
| Dag1 |
A |
T |
9: 108,085,734 (GRCm39) |
L469* |
probably null |
Het |
| Dclre1c |
T |
C |
2: 3,439,125 (GRCm39) |
V225A |
|
Het |
| Dedd |
A |
G |
1: 171,166,409 (GRCm39) |
D115G |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,741,407 (GRCm39) |
V2166D |
probably benign |
Het |
| Eif2ak3 |
T |
A |
6: 70,860,704 (GRCm39) |
W427R |
probably damaging |
Het |
| Fbln2 |
T |
A |
6: 91,210,473 (GRCm39) |
V139D |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,223,985 (GRCm39) |
M588K |
possibly damaging |
Het |
| Gm17019 |
A |
T |
5: 15,081,113 (GRCm39) |
Y109* |
probably null |
Het |
| Gm32742 |
T |
A |
9: 51,056,015 (GRCm39) |
N1255Y |
probably damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,600 (GRCm39) |
K441* |
probably null |
Het |
| Golga2 |
A |
G |
2: 32,196,079 (GRCm39) |
D898G |
|
Het |
| Gramd4 |
G |
A |
15: 85,975,525 (GRCm39) |
R39H |
probably benign |
Het |
| Gucy1a2 |
A |
G |
9: 3,634,553 (GRCm39) |
N199S |
probably damaging |
Het |
| Heyl |
G |
A |
4: 123,139,885 (GRCm39) |
R148H |
probably damaging |
Het |
| Ifi208 |
A |
T |
1: 173,523,400 (GRCm39) |
M557L |
probably benign |
Het |
| Igf2r |
A |
G |
17: 12,958,238 (GRCm39) |
V145A |
probably damaging |
Het |
| Ighv1-4 |
A |
T |
12: 114,450,879 (GRCm39) |
Y76* |
probably null |
Het |
| Ikzf4 |
T |
C |
10: 128,468,487 (GRCm39) |
D664G |
unknown |
Het |
| Il1a |
T |
A |
2: 129,146,715 (GRCm39) |
Y126F |
possibly damaging |
Het |
| Lmf2 |
C |
A |
15: 89,239,771 (GRCm39) |
|
probably benign |
Het |
| Lyst |
T |
C |
13: 13,808,827 (GRCm39) |
S166P |
probably damaging |
Het |
| Mgat5 |
A |
C |
1: 127,294,197 (GRCm39) |
T180P |
probably benign |
Het |
| Mical2 |
A |
C |
7: 111,870,589 (GRCm39) |
K26T |
possibly damaging |
Het |
| Mov10 |
G |
T |
3: 104,711,659 (GRCm39) |
Y209* |
probably null |
Het |
| Nol8 |
T |
C |
13: 49,815,475 (GRCm39) |
Y528H |
probably benign |
Het |
| Numa1 |
T |
A |
7: 101,641,869 (GRCm39) |
S106T |
possibly damaging |
Het |
| Or1e1d-ps1 |
A |
T |
11: 73,819,167 (GRCm39) |
E39V |
probably damaging |
Het |
| Or4c124 |
G |
A |
2: 89,156,474 (GRCm39) |
Q17* |
probably null |
Het |
| Or5b107 |
A |
G |
19: 13,142,396 (GRCm39) |
N6S |
probably damaging |
Het |
| Or7g27 |
A |
G |
9: 19,250,026 (GRCm39) |
H90R |
probably benign |
Het |
| Pcdhb14 |
A |
G |
18: 37,582,091 (GRCm39) |
N399S |
probably damaging |
Het |
| Plcl2 |
T |
A |
17: 50,918,032 (GRCm39) |
S944T |
probably benign |
Het |
| Pml |
A |
T |
9: 58,127,660 (GRCm39) |
I695N |
probably benign |
Het |
| Ppard |
G |
T |
17: 28,505,349 (GRCm39) |
R12L |
unknown |
Het |
| Ppip5k1 |
C |
T |
2: 121,158,125 (GRCm39) |
|
probably null |
Het |
| Ppp1r3g |
T |
C |
13: 36,152,621 (GRCm39) |
S14P |
probably benign |
Het |
| Pramel55 |
A |
G |
5: 95,951,623 (GRCm39) |
Y470C |
probably damaging |
Het |
| Prrc2b |
C |
A |
2: 32,103,764 (GRCm39) |
R1081S |
probably damaging |
Het |
| Rasgrp2 |
A |
T |
19: 6,454,438 (GRCm39) |
E160D |
possibly damaging |
Het |
| Rb1cc1 |
G |
A |
1: 6,333,073 (GRCm39) |
V1331I |
probably damaging |
Het |
| Rnd3 |
A |
T |
2: 51,022,413 (GRCm39) |
S210T |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,312,764 (GRCm39) |
T1426A |
probably benign |
Het |
| Sin3b |
C |
T |
8: 73,460,034 (GRCm39) |
T207I |
possibly damaging |
Het |
| Slc26a7 |
A |
T |
4: 14,593,873 (GRCm39) |
Y81N |
probably damaging |
Het |
| Slc28a3 |
C |
T |
13: 58,724,581 (GRCm39) |
M224I |
probably benign |
Het |
| Slc30a1 |
T |
C |
1: 191,639,342 (GRCm39) |
I75T |
probably damaging |
Het |
| Slc6a21 |
T |
A |
7: 44,929,674 (GRCm39) |
|
probably benign |
Het |
| Slco2a1 |
T |
A |
9: 102,945,243 (GRCm39) |
L206Q |
probably damaging |
Het |
| Spata31d1e |
A |
G |
13: 59,890,828 (GRCm39) |
S331P |
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,104,356 (GRCm39) |
V116A |
probably damaging |
Het |
| Syngap1 |
G |
A |
17: 27,181,095 (GRCm39) |
D1008N |
probably damaging |
Het |
| Syt11 |
T |
C |
3: 88,669,643 (GRCm39) |
D83G |
probably benign |
Het |
| Syt14 |
G |
A |
1: 192,584,131 (GRCm39) |
T428I |
probably damaging |
Het |
| Taf15 |
T |
A |
11: 83,395,085 (GRCm39) |
Y338* |
probably null |
Het |
| Tfap4 |
A |
T |
16: 4,365,183 (GRCm39) |
M253K |
possibly damaging |
Het |
| Tnr |
T |
C |
1: 159,713,680 (GRCm39) |
S703P |
possibly damaging |
Het |
| Trrap |
G |
A |
5: 144,767,830 (GRCm39) |
D2577N |
probably benign |
Het |
| Uqcc6 |
A |
T |
10: 82,458,588 (GRCm39) |
M21K |
probably benign |
Het |
| Wdr20 |
C |
T |
12: 110,759,597 (GRCm39) |
S161L |
possibly damaging |
Het |
| Zfp503 |
C |
A |
14: 22,037,418 (GRCm39) |
V62L |
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 |
|
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 |
|
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'- ACAAGACTGGCAGTGCTGTG -3'
(R):5'- GCTAATTGGTTTTCAAAACACTGGG -3'
Sequencing Primer
(F):5'- GCCTCTAATGTGCAATGAGC -3'
(R):5'- TGGGTAACAATAAGCGTCCCTCTG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation