Incidental Mutation 'R5739:Adamtsl1'
| ID |
444673 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl1
|
| Ensembl Gene |
ENSMUSG00000066113 |
| Gene Name |
ADAMTS-like 1 |
| Synonyms |
punctin-1, 5930437A14Rik, 6720426B09Rik |
| MMRRC Submission |
043351-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.238)
|
| Stock # |
R5739 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
85432409-86346622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86150901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 353
(E353G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048885]
[ENSMUST00000107178]
[ENSMUST00000141889]
|
| AlphaFold |
Q8BLI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048885
AA Change: E353G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043073
Gene: ENSMUSG00000066113
AA Change: E353G
| 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: E353G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
AA Change: E353G
| 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 |
unknown
Transcript: ENSMUST00000136320
AA Change: E181G
|
| SMART Domains |
Protein: ENSMUSP00000123343
Gene: ENSMUSG00000066113
AA Change: E181G
| 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: E353G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: E353G
| 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 |
0.1365 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
A |
T |
9: 46,220,717 (GRCm39) |
S50T |
probably benign |
Het |
| A930011G23Rik |
A |
G |
5: 99,369,289 (GRCm39) |
L529P |
probably damaging |
Het |
| Acer2 |
A |
T |
4: 86,818,792 (GRCm39) |
N147Y |
probably damaging |
Het |
| Alg6 |
T |
C |
4: 99,632,737 (GRCm39) |
F60L |
probably benign |
Het |
| Ano6 |
A |
T |
15: 95,811,260 (GRCm39) |
D120V |
probably damaging |
Het |
| Armc3 |
A |
G |
2: 19,258,728 (GRCm39) |
D265G |
possibly damaging |
Het |
| Aurkc |
A |
T |
7: 7,005,859 (GRCm39) |
Y249F |
probably benign |
Het |
| Bmal1 |
G |
A |
7: 112,884,238 (GRCm39) |
R92Q |
probably damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,389,528 (GRCm39) |
I274V |
probably benign |
Het |
| Camk2n2 |
C |
A |
16: 20,439,830 (GRCm39) |
G39C |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,880,710 (GRCm39) |
L419P |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,141,388 (GRCm39) |
M3117V |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,704,357 (GRCm39) |
E280G |
probably benign |
Het |
| Cherp |
TGCTGGTGGTGGGG |
TG |
8: 73,221,659 (GRCm39) |
|
probably benign |
Het |
| Clcn6 |
A |
G |
4: 148,098,646 (GRCm39) |
V494A |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,376,996 (GRCm39) |
G450S |
probably damaging |
Het |
| Crb2 |
T |
G |
2: 37,683,666 (GRCm39) |
V1056G |
probably damaging |
Het |
| Crtac1 |
A |
G |
19: 42,290,612 (GRCm39) |
F363S |
probably damaging |
Het |
| Dipk2a |
A |
T |
9: 94,402,594 (GRCm39) |
V356E |
possibly damaging |
Het |
| Dnaaf2 |
T |
C |
12: 69,243,715 (GRCm39) |
S449G |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,273,152 (GRCm39) |
I2427F |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,937,981 (GRCm39) |
D1619E |
probably benign |
Het |
| Dock3 |
A |
T |
9: 106,850,995 (GRCm39) |
S836T |
possibly damaging |
Het |
| Donson |
A |
T |
16: 91,478,117 (GRCm39) |
|
probably null |
Het |
| Drc3 |
G |
A |
11: 60,265,956 (GRCm39) |
R215H |
possibly damaging |
Het |
| Entpd2 |
T |
C |
2: 25,289,504 (GRCm39) |
S329P |
possibly damaging |
Het |
| Eya2 |
T |
C |
2: 165,603,857 (GRCm39) |
S332P |
probably damaging |
Het |
| Fam83f |
T |
A |
15: 80,576,206 (GRCm39) |
Y286N |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,037,283 (GRCm39) |
V3645A |
probably benign |
Het |
| G2e3 |
T |
C |
12: 51,419,287 (GRCm39) |
F668L |
possibly damaging |
Het |
| Gm14403 |
T |
A |
2: 177,201,040 (GRCm39) |
C329S |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,684,448 (GRCm39) |
T374I |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,634,225 (GRCm39) |
|
probably null |
Het |
| Hrnr |
T |
C |
3: 93,230,436 (GRCm39) |
S225P |
unknown |
Het |
| Ifi202b |
C |
T |
1: 173,798,918 (GRCm39) |
|
probably null |
Het |
| Il10ra |
A |
T |
9: 45,167,368 (GRCm39) |
D394E |
possibly damaging |
Het |
| Itga2b |
A |
T |
11: 102,356,735 (GRCm39) |
D275E |
probably benign |
Het |
| Jaml |
A |
T |
9: 45,000,026 (GRCm39) |
D108V |
probably damaging |
Het |
| Kir3dl1 |
G |
A |
X: 135,427,231 (GRCm39) |
D56N |
probably damaging |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,872 (GRCm39) |
V443A |
probably damaging |
Het |
| Mkln1 |
T |
A |
6: 31,473,637 (GRCm39) |
S126R |
probably benign |
Het |
| Myo19 |
T |
C |
11: 84,788,450 (GRCm39) |
I354T |
probably damaging |
Het |
| Nucb1 |
A |
T |
7: 45,151,084 (GRCm39) |
L99Q |
probably damaging |
Het |
| Or4f59 |
A |
G |
2: 111,873,128 (GRCm39) |
F83S |
probably damaging |
Het |
| Pask |
A |
G |
1: 93,249,778 (GRCm39) |
S541P |
probably benign |
Het |
| Pdpr |
A |
T |
8: 111,861,252 (GRCm39) |
I749F |
possibly damaging |
Het |
| Pgap6 |
T |
A |
17: 26,339,425 (GRCm39) |
F580I |
probably damaging |
Het |
| Phyhipl |
T |
C |
10: 70,395,399 (GRCm39) |
D269G |
possibly damaging |
Het |
| Pkdcc |
A |
G |
17: 83,523,223 (GRCm39) |
D110G |
probably benign |
Het |
| Ppox |
A |
G |
1: 171,107,570 (GRCm39) |
L115P |
probably damaging |
Het |
| Ppp1r12c |
A |
G |
7: 4,500,281 (GRCm39) |
L94P |
probably damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,143,276 (GRCm39) |
M141K |
probably benign |
Het |
| Prl3d1 |
A |
T |
13: 27,283,995 (GRCm39) |
H188L |
probably benign |
Het |
| Psmb3 |
T |
A |
11: 97,604,296 (GRCm39) |
|
probably benign |
Het |
| Pxdn |
T |
A |
12: 30,032,333 (GRCm39) |
S150T |
probably benign |
Het |
| Ripor3 |
T |
C |
2: 167,823,203 (GRCm39) |
T903A |
probably damaging |
Het |
| Rnase4 |
T |
C |
14: 51,342,306 (GRCm39) |
L10S |
probably benign |
Het |
| Rnf224 |
T |
C |
2: 25,126,012 (GRCm39) |
T114A |
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,269,619 (GRCm39) |
E1735V |
probably benign |
Het |
| Rrp1b |
T |
A |
17: 32,264,950 (GRCm39) |
Y60N |
probably damaging |
Het |
| Rsbn1l |
A |
T |
5: 21,110,814 (GRCm39) |
V508E |
probably damaging |
Het |
| Rubcnl |
T |
C |
14: 75,278,381 (GRCm39) |
|
probably null |
Het |
| Rxfp4 |
A |
G |
3: 88,559,209 (GRCm39) |
|
probably benign |
Het |
| Sdccag8 |
A |
G |
1: 176,653,797 (GRCm39) |
T85A |
probably benign |
Het |
| Slc46a1 |
A |
T |
11: 78,357,975 (GRCm39) |
I343F |
possibly damaging |
Het |
| Ssh2 |
A |
G |
11: 77,340,639 (GRCm39) |
D597G |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 76,044,239 (GRCm39) |
V3942E |
possibly damaging |
Het |
| Timd4 |
T |
C |
11: 46,708,573 (GRCm39) |
S200P |
probably benign |
Het |
| Tmc5 |
G |
A |
7: 118,265,834 (GRCm39) |
|
probably null |
Het |
| Trbv16 |
A |
G |
6: 41,129,013 (GRCm39) |
T66A |
probably benign |
Het |
| Ttc3 |
A |
T |
16: 94,240,183 (GRCm39) |
K1103* |
probably null |
Het |
| Ttc7b |
A |
G |
12: 100,350,492 (GRCm39) |
V458A |
probably damaging |
Het |
| Ubxn10 |
A |
G |
4: 138,448,134 (GRCm39) |
S181P |
probably benign |
Het |
| Vmn2r11 |
A |
G |
5: 109,207,114 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
A |
T |
6: 124,002,925 (GRCm39) |
N112Y |
probably benign |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
| Zc3h10 |
T |
C |
10: 128,380,670 (GRCm39) |
N229S |
probably benign |
Het |
| Zfp407 |
T |
C |
18: 84,226,867 (GRCm39) |
*2247W |
probably null |
Het |
| Zfyve1 |
C |
A |
12: 83,621,910 (GRCm39) |
V162L |
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 |
|
|
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'- TCTTCGAAATAACTTAGACGTTGGG -3'
(R):5'- ACCCTAAGGTCTCGTCACAAG -3'
Sequencing Primer
(F):5'- TTAACTTAGCCCAGAGTCATGCAG -3'
(R):5'- GGTCTCGTCACAAGACAGCAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation