Incidental Mutation 'R5141:Adamtsl1'
| ID |
396449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl1
|
| Ensembl Gene |
ENSMUSG00000066113 |
| Gene Name |
ADAMTS-like 1 |
| Synonyms |
punctin-1, 5930437A14Rik, 6720426B09Rik |
| MMRRC Submission |
042727-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.238)
|
| Stock # |
R5141 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
85432409-86346622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86075087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 151
(M151I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113330
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048885]
[ENSMUST00000107178]
[ENSMUST00000120678]
[ENSMUST00000141889]
|
| AlphaFold |
Q8BLI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048885
AA Change: M151I
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000043073
Gene: ENSMUSG00000066113
AA Change: M151I
| 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 |
possibly damaging
Transcript: ENSMUST00000107178
AA Change: M151I
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
AA Change: M151I
| 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: M151I
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113330
Gene: ENSMUSG00000066113
AA Change: M151I
| 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 |
possibly damaging
Transcript: ENSMUST00000141889
AA Change: M151I
PolyPhen 2
Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: M151I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150043
|
| Meta Mutation Damage Score |
0.0864 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
96% (76/79) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
A |
G |
14: 68,810,577 (GRCm39) |
V193A |
probably benign |
Het |
| Adamts18 |
T |
A |
8: 114,501,902 (GRCm39) |
T320S |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,419,037 (GRCm39) |
V5986E |
probably damaging |
Het |
| Aifm3 |
A |
G |
16: 17,317,586 (GRCm39) |
E69G |
probably damaging |
Het |
| Akap13 |
C |
A |
7: 75,259,362 (GRCm39) |
T662K |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,598,414 (GRCm39) |
D1080G |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,209,611 (GRCm39) |
E1457G |
possibly damaging |
Het |
| Apobec4 |
A |
G |
1: 152,631,964 (GRCm39) |
|
probably benign |
Het |
| Apoo-ps |
C |
T |
13: 107,550,895 (GRCm39) |
|
noncoding transcript |
Het |
| Aspscr1 |
G |
A |
11: 120,580,003 (GRCm39) |
V181I |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,841,050 (GRCm39) |
|
probably benign |
Het |
| C3 |
T |
A |
17: 57,526,570 (GRCm39) |
I804F |
probably damaging |
Het |
| Cbfa2t3 |
C |
T |
8: 123,361,760 (GRCm39) |
G421R |
probably benign |
Het |
| Chmp4c |
A |
G |
3: 10,432,213 (GRCm39) |
E41G |
probably damaging |
Het |
| Clk4 |
T |
A |
11: 51,166,598 (GRCm39) |
F96L |
possibly damaging |
Het |
| Ctsg |
G |
A |
14: 56,339,184 (GRCm39) |
R25* |
probably null |
Het |
| Cul1 |
A |
G |
6: 47,497,773 (GRCm39) |
D618G |
probably benign |
Het |
| Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,106,287 (GRCm39) |
T1326I |
probably damaging |
Het |
| Etnk2 |
A |
G |
1: 133,296,600 (GRCm39) |
I210V |
probably benign |
Het |
| Gm5773 |
T |
A |
3: 93,681,034 (GRCm39) |
D235E |
probably benign |
Het |
| Gm7353 |
T |
C |
7: 3,161,001 (GRCm39) |
|
noncoding transcript |
Het |
| Gpi1 |
G |
A |
7: 33,926,521 (GRCm39) |
|
probably benign |
Het |
| Ing4 |
T |
C |
6: 125,016,837 (GRCm39) |
M5T |
probably benign |
Het |
| Inpp4a |
A |
G |
1: 37,419,168 (GRCm39) |
I583V |
probably benign |
Het |
| Isyna1 |
T |
C |
8: 71,047,543 (GRCm39) |
V64A |
probably damaging |
Het |
| Katnal2 |
T |
A |
18: 77,085,337 (GRCm39) |
D310V |
probably damaging |
Het |
| Kbtbd8 |
A |
G |
6: 95,098,820 (GRCm39) |
T126A |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,906,197 (GRCm39) |
D582G |
probably benign |
Het |
| Lmf2 |
G |
A |
15: 89,235,810 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,382,693 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
T |
C |
2: 91,309,023 (GRCm39) |
|
probably benign |
Het |
| Lyzl1 |
A |
C |
18: 4,169,209 (GRCm39) |
D71A |
possibly damaging |
Het |
| Mak |
C |
T |
13: 41,186,039 (GRCm39) |
C543Y |
possibly damaging |
Het |
| Mapk8ip1 |
T |
C |
2: 92,217,110 (GRCm39) |
D404G |
probably damaging |
Het |
| Mdga1 |
C |
T |
17: 30,071,467 (GRCm39) |
E385K |
probably benign |
Het |
| Mst1r |
T |
A |
9: 107,789,440 (GRCm39) |
I573N |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,368,479 (GRCm39) |
N2365K |
possibly damaging |
Het |
| Ncan |
T |
C |
8: 70,565,487 (GRCm39) |
E179G |
probably damaging |
Het |
| Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
| Or10d5 |
T |
G |
9: 39,861,170 (GRCm39) |
K299T |
probably benign |
Het |
| Or4c122 |
A |
C |
2: 89,079,473 (GRCm39) |
Y176* |
probably null |
Het |
| Or8g20 |
A |
G |
9: 39,395,827 (GRCm39) |
F238L |
probably damaging |
Het |
| Pcolce |
G |
T |
5: 137,604,012 (GRCm39) |
Q352K |
probably benign |
Het |
| Peg3 |
G |
T |
7: 6,712,381 (GRCm39) |
T947N |
probably benign |
Het |
| Pld3 |
C |
T |
7: 27,233,220 (GRCm39) |
D344N |
probably damaging |
Het |
| Plec |
A |
C |
15: 76,074,733 (GRCm39) |
D411E |
probably damaging |
Het |
| Pmp2 |
C |
T |
3: 10,247,474 (GRCm39) |
D72N |
probably benign |
Het |
| Ptpn9 |
T |
C |
9: 56,943,960 (GRCm39) |
V278A |
possibly damaging |
Het |
| Rbm33 |
A |
G |
5: 28,557,687 (GRCm39) |
H300R |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,987,546 (GRCm39) |
Q837R |
probably benign |
Het |
| Rwdd4a |
T |
C |
8: 48,003,709 (GRCm39) |
|
probably benign |
Het |
| Sema6a |
T |
C |
18: 47,381,455 (GRCm39) |
T1048A |
probably damaging |
Het |
| Senp1 |
G |
A |
15: 97,974,488 (GRCm39) |
A108V |
probably benign |
Het |
| Serpine2 |
G |
T |
1: 79,780,580 (GRCm39) |
Q290K |
possibly damaging |
Het |
| Sesn1 |
A |
G |
10: 41,687,097 (GRCm39) |
N27S |
probably benign |
Het |
| Shroom1 |
T |
A |
11: 53,354,809 (GRCm39) |
L243* |
probably null |
Het |
| Slc17a5 |
A |
G |
9: 78,448,270 (GRCm39) |
Y395H |
probably damaging |
Het |
| Slc5a8 |
T |
C |
10: 88,755,422 (GRCm39) |
|
probably null |
Het |
| Sptbn5 |
G |
A |
2: 119,892,212 (GRCm39) |
S1083F |
probably benign |
Het |
| Stx4a |
T |
A |
7: 127,445,787 (GRCm39) |
V231E |
probably damaging |
Het |
| Swt1 |
A |
T |
1: 151,287,145 (GRCm39) |
S116T |
probably benign |
Het |
| Syt9 |
C |
T |
7: 107,103,426 (GRCm39) |
T408I |
probably damaging |
Het |
| Tgm7 |
T |
C |
2: 120,931,480 (GRCm39) |
T228A |
probably benign |
Het |
| Tmem115 |
A |
G |
9: 107,415,141 (GRCm39) |
D310G |
probably benign |
Het |
| Trcg1 |
G |
A |
9: 57,148,587 (GRCm39) |
G53D |
probably damaging |
Het |
| Tsfm |
T |
C |
10: 126,865,482 (GRCm39) |
K100E |
probably damaging |
Het |
| Usp1 |
A |
G |
4: 98,822,446 (GRCm39) |
T587A |
probably damaging |
Het |
| Vcpip1 |
G |
T |
1: 9,818,302 (GRCm39) |
A27E |
unknown |
Het |
| Vmn2r49 |
T |
C |
7: 9,720,300 (GRCm39) |
N397S |
probably benign |
Het |
| Vmn2r8 |
A |
G |
5: 108,956,572 (GRCm39) |
S17P |
probably damaging |
Het |
| Vwa3b |
A |
G |
1: 37,226,102 (GRCm39) |
|
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,998,114 (GRCm39) |
S1094T |
probably benign |
Het |
| Zbtb22 |
C |
G |
17: 34,137,610 (GRCm39) |
S585C |
possibly damaging |
Het |
| Zhx2 |
A |
G |
15: 57,685,182 (GRCm39) |
T184A |
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 |
|
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'- TTTCCGAGCTCAACAGTGTTC -3'
(R):5'- TGCCCATACCATTCACTGAAATTAC -3'
Sequencing Primer
(F):5'- GTGTTCTGCTCATAACGACGTCAAG -3'
(R):5'- TTCCTTTCAGGCAACCTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation