Incidental Mutation 'R0453:Adamtsl1'
| ID |
39751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl1
|
| Ensembl Gene |
ENSMUSG00000066113 |
| Gene Name |
ADAMTS-like 1 |
| Synonyms |
punctin-1, 5930437A14Rik, 6720426B09Rik |
| MMRRC Submission |
038653-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.238)
|
| Stock # |
R0453 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
85432409-86346622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86150852 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 337
(Y337H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048885]
[ENSMUST00000107178]
[ENSMUST00000141889]
|
| AlphaFold |
Q8BLI0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048885
AA Change: Y337H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000043073
Gene: ENSMUSG00000066113
AA Change: Y337H
| 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: Y337H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
AA Change: Y337H
| 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: Y165H
|
| SMART Domains |
Protein: ENSMUSP00000123343
Gene: ENSMUSG00000066113
AA Change: Y165H
| 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: Y337H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: Y337H
| 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 |
0.0804 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.6%
|
| Validation Efficiency |
99% (97/98) |
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
A |
5: 121,765,445 (GRCm39) |
K843* |
probably null |
Het |
| Adam26b |
T |
C |
8: 43,973,387 (GRCm39) |
I538M |
probably benign |
Het |
| Ak7 |
T |
C |
12: 105,682,307 (GRCm39) |
M156T |
probably damaging |
Het |
| Aldh3a1 |
A |
G |
11: 61,106,338 (GRCm39) |
M238V |
probably benign |
Het |
| Asic4 |
T |
A |
1: 75,450,155 (GRCm39) |
|
probably benign |
Het |
| AW551984 |
A |
G |
9: 39,511,937 (GRCm39) |
S25P |
probably damaging |
Het |
| Bbs7 |
T |
A |
3: 36,661,818 (GRCm39) |
Y127F |
possibly damaging |
Het |
| Bco1 |
G |
A |
8: 117,835,516 (GRCm39) |
E156K |
possibly damaging |
Het |
| Becn1 |
T |
C |
11: 101,181,275 (GRCm39) |
D342G |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,956,749 (GRCm39) |
I3575N |
probably damaging |
Het |
| Brd10 |
T |
C |
19: 29,731,068 (GRCm39) |
Y715C |
probably damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,860,636 (GRCm39) |
M522L |
probably benign |
Het |
| Cerkl |
A |
G |
2: 79,172,795 (GRCm39) |
F293L |
probably benign |
Het |
| Chil3 |
T |
G |
3: 106,056,221 (GRCm39) |
N311T |
probably benign |
Het |
| Cpeb2 |
T |
A |
5: 43,443,056 (GRCm39) |
|
probably benign |
Het |
| Cpxm2 |
A |
G |
7: 131,730,134 (GRCm39) |
S162P |
probably damaging |
Het |
| Cracr2b |
A |
C |
7: 141,044,176 (GRCm39) |
E136A |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,012,258 (GRCm39) |
M347K |
probably benign |
Het |
| Dicer1 |
C |
A |
12: 104,668,889 (GRCm39) |
R1264S |
probably benign |
Het |
| Dlgap1 |
T |
A |
17: 71,068,341 (GRCm39) |
N609K |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,323,651 (GRCm39) |
T641A |
probably benign |
Het |
| Egfl8 |
T |
C |
17: 34,833,856 (GRCm39) |
Y74C |
probably damaging |
Het |
| Esyt1 |
A |
G |
10: 128,348,078 (GRCm39) |
S901P |
probably benign |
Het |
| Fam83e |
A |
T |
7: 45,373,372 (GRCm39) |
D246V |
probably damaging |
Het |
| Galnt2 |
T |
C |
8: 125,065,323 (GRCm39) |
|
probably benign |
Het |
| Hdc |
A |
G |
2: 126,436,871 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
A |
C |
9: 66,307,054 (GRCm39) |
Q958P |
probably benign |
Het |
| Iqcg |
T |
A |
16: 32,870,213 (GRCm39) |
|
probably benign |
Het |
| Iqub |
A |
T |
6: 24,450,829 (GRCm39) |
F590Y |
probably damaging |
Het |
| Jak2 |
T |
C |
19: 29,289,238 (GRCm39) |
I1130T |
probably benign |
Het |
| Kbtbd11 |
G |
A |
8: 15,077,499 (GRCm39) |
A33T |
probably benign |
Het |
| Kcnip4 |
A |
G |
5: 48,667,054 (GRCm39) |
L37P |
probably damaging |
Het |
| Klk6 |
A |
G |
7: 43,477,963 (GRCm39) |
N112D |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,559,745 (GRCm39) |
T1011I |
probably damaging |
Het |
| Knl1 |
A |
T |
2: 118,898,869 (GRCm39) |
K190M |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,598,535 (GRCm39) |
S981T |
possibly damaging |
Het |
| Lrrc18 |
T |
C |
14: 32,730,608 (GRCm39) |
L49P |
probably damaging |
Het |
| Lrrc31 |
T |
C |
3: 30,741,674 (GRCm39) |
E245G |
probably damaging |
Het |
| Lypd10 |
T |
A |
7: 24,413,712 (GRCm39) |
S243T |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,338,737 (GRCm39) |
I2456M |
probably benign |
Het |
| Mcm6 |
T |
A |
1: 128,261,292 (GRCm39) |
T771S |
probably benign |
Het |
| Met |
A |
C |
6: 17,534,197 (GRCm39) |
Y680S |
possibly damaging |
Het |
| Mixl1 |
T |
A |
1: 180,524,211 (GRCm39) |
T123S |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,183,731 (GRCm39) |
I787F |
probably benign |
Het |
| Myocd |
A |
G |
11: 65,087,051 (GRCm39) |
F292S |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,203,902 (GRCm39) |
|
probably null |
Het |
| Nfe2l1 |
A |
G |
11: 96,718,194 (GRCm39) |
S114P |
probably damaging |
Het |
| Nrxn2 |
T |
C |
19: 6,541,551 (GRCm39) |
S986P |
probably damaging |
Het |
| Oprl1 |
T |
C |
2: 181,360,527 (GRCm39) |
|
probably null |
Het |
| Or11h6 |
T |
C |
14: 50,880,461 (GRCm39) |
V241A |
possibly damaging |
Het |
| Or4a73 |
A |
T |
2: 89,421,095 (GRCm39) |
Y121* |
probably null |
Het |
| Or5b101 |
T |
G |
19: 13,005,295 (GRCm39) |
T133P |
probably damaging |
Het |
| Or6c8 |
A |
G |
10: 128,915,640 (GRCm39) |
F64S |
probably damaging |
Het |
| Or8b53 |
G |
A |
9: 38,667,425 (GRCm39) |
G147D |
probably damaging |
Het |
| Or8c9 |
A |
T |
9: 38,241,467 (GRCm39) |
T195S |
probably benign |
Het |
| Panx2 |
T |
A |
15: 88,952,610 (GRCm39) |
I359N |
probably damaging |
Het |
| Pik3c2b |
T |
A |
1: 133,005,134 (GRCm39) |
V545E |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,638,748 (GRCm39) |
N259S |
probably benign |
Het |
| Plcxd2 |
A |
T |
16: 45,800,919 (GRCm39) |
F102I |
probably damaging |
Het |
| Pld5 |
A |
T |
1: 175,917,522 (GRCm39) |
M75K |
possibly damaging |
Het |
| Pmp22 |
T |
A |
11: 63,041,929 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,631,845 (GRCm39) |
S1074P |
possibly damaging |
Het |
| Pop1 |
T |
A |
15: 34,526,352 (GRCm39) |
V649E |
possibly damaging |
Het |
| Prc1 |
A |
G |
7: 79,962,850 (GRCm39) |
N548S |
probably damaging |
Het |
| Prss51 |
T |
C |
14: 64,334,588 (GRCm39) |
L202P |
probably damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,585,428 (GRCm39) |
S576P |
possibly damaging |
Het |
| Rictor |
A |
G |
15: 6,738,123 (GRCm39) |
D20G |
probably benign |
Het |
| Rpl13a-ps1 |
A |
T |
19: 50,018,645 (GRCm39) |
L177* |
probably null |
Het |
| Rpl23a-ps1 |
T |
G |
1: 46,021,087 (GRCm39) |
|
noncoding transcript |
Het |
| Saa2 |
A |
G |
7: 46,402,902 (GRCm39) |
D51G |
probably damaging |
Het |
| Sec31a |
A |
T |
5: 100,551,977 (GRCm39) |
|
probably benign |
Het |
| Secisbp2 |
G |
A |
13: 51,837,361 (GRCm39) |
E841K |
possibly damaging |
Het |
| Serinc1 |
A |
G |
10: 57,393,306 (GRCm39) |
Y437H |
probably damaging |
Het |
| Slc39a12 |
A |
T |
2: 14,440,492 (GRCm39) |
H481L |
probably benign |
Het |
| Suz12 |
T |
A |
11: 79,920,859 (GRCm39) |
N586K |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,386,630 (GRCm39) |
Y344C |
possibly damaging |
Het |
| Tas2r104 |
A |
G |
6: 131,662,304 (GRCm39) |
V135A |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 112,034,673 (GRCm39) |
S1371P |
probably benign |
Het |
| Tg |
T |
A |
15: 66,700,382 (GRCm39) |
D893E |
probably benign |
Het |
| Thoc5 |
C |
A |
11: 4,868,217 (GRCm39) |
D423E |
possibly damaging |
Het |
| Trim11 |
G |
A |
11: 58,881,361 (GRCm39) |
R418H |
probably damaging |
Het |
| Trim52 |
T |
G |
14: 106,344,399 (GRCm39) |
V19G |
probably damaging |
Het |
| Tuba4a |
C |
A |
1: 75,192,502 (GRCm39) |
V371L |
probably damaging |
Het |
| Ugt8a |
A |
G |
3: 125,708,606 (GRCm39) |
V168A |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,938,951 (GRCm39) |
G496R |
probably damaging |
Het |
| Usp40 |
A |
G |
1: 87,874,320 (GRCm39) |
*1236Q |
probably null |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Vmn2r24 |
A |
G |
6: 123,757,350 (GRCm39) |
|
probably null |
Het |
| Vmn2r53 |
A |
G |
7: 12,316,338 (GRCm39) |
Y494H |
probably damaging |
Het |
| Vmn2r65 |
T |
A |
7: 84,595,442 (GRCm39) |
D414V |
probably benign |
Het |
| Wdr26 |
A |
T |
1: 181,010,444 (GRCm39) |
L519* |
probably null |
Het |
| Wnk1 |
A |
G |
6: 119,940,112 (GRCm39) |
V173A |
probably damaging |
Het |
| Zfp217 |
C |
T |
2: 169,957,382 (GRCm39) |
A539T |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,707,634 (GRCm39) |
S231P |
probably damaging |
Het |
| Zfp398 |
T |
C |
6: 47,842,782 (GRCm39) |
V146A |
probably benign |
Het |
| Zfp410 |
T |
C |
12: 84,378,486 (GRCm39) |
M270T |
probably damaging |
Het |
| Zfp445 |
A |
T |
9: 122,682,578 (GRCm39) |
H454Q |
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 |
|
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 |
|
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'- ATTCTTCCTGGCAGCCCCAGAGAC -3'
(R):5'- ACTAATGGTGGGGACGCTGGAC -3'
Sequencing Primer
(F):5'- GACAAAGAGGCAATTTAGCATCC -3'
(R):5'- CGCTGGACAGGGCAATG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation