Incidental Mutation 'R6736:Adamtsl1'
| ID |
528395 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl1
|
| Ensembl Gene |
ENSMUSG00000066113 |
| Gene Name |
ADAMTS-like 1 |
| Synonyms |
punctin-1, 5930437A14Rik, 6720426B09Rik |
| MMRRC Submission |
044854-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R6736 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
85432409-86346622 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86260484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 898
(H898Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107178]
[ENSMUST00000141889]
|
| AlphaFold |
Q8BLI0 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107177
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107178
AA Change: H906Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
AA Change: H906Q
| 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 damaging
Transcript: ENSMUST00000141889
AA Change: H898Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: H898Q
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| 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: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,211,100 (GRCm39) |
I83T |
probably benign |
Het |
| Aadacl4 |
T |
G |
4: 144,349,909 (GRCm39) |
S389A |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,415,058 (GRCm39) |
S4042C |
probably damaging |
Het |
| Acaca |
G |
A |
11: 84,129,664 (GRCm39) |
V340I |
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,746,198 (GRCm39) |
|
probably null |
Het |
| Acsl6 |
A |
C |
11: 54,215,992 (GRCm39) |
E124A |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,575,329 (GRCm39) |
S603P |
probably damaging |
Het |
| Apobec1 |
A |
T |
6: 122,558,634 (GRCm39) |
M31K |
probably null |
Het |
| Astn1 |
T |
C |
1: 158,338,718 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
G |
T |
5: 67,824,960 (GRCm39) |
D790E |
probably damaging |
Het |
| Bahd1 |
T |
G |
2: 118,746,456 (GRCm39) |
M25R |
possibly damaging |
Het |
| BC034090 |
A |
T |
1: 155,117,676 (GRCm39) |
N147K |
possibly damaging |
Het |
| Bfsp2 |
G |
T |
9: 103,357,403 (GRCm39) |
A8E |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,869,772 (GRCm39) |
I85N |
probably damaging |
Het |
| Catspere2 |
T |
A |
1: 177,845,278 (GRCm39) |
Y99* |
probably null |
Het |
| Ccdc24 |
T |
A |
4: 117,727,732 (GRCm39) |
N145I |
possibly damaging |
Het |
| Cdhr5 |
G |
T |
7: 140,852,444 (GRCm39) |
Q141K |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,199,887 (GRCm39) |
V1998A |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,052,626 (GRCm39) |
Y2166F |
probably damaging |
Het |
| Cul4a |
T |
G |
8: 13,186,219 (GRCm39) |
S474A |
probably benign |
Het |
| Cutal |
A |
G |
2: 34,778,149 (GRCm39) |
T112A |
probably benign |
Het |
| Dcaf6 |
A |
C |
1: 165,227,354 (GRCm39) |
S258A |
possibly damaging |
Het |
| Dek |
C |
T |
13: 47,252,866 (GRCm39) |
V180M |
probably damaging |
Het |
| Dspp |
C |
A |
5: 104,326,041 (GRCm39) |
D801E |
unknown |
Het |
| Egflam |
T |
C |
15: 7,249,206 (GRCm39) |
T871A |
probably damaging |
Het |
| Erbin |
A |
T |
13: 103,971,274 (GRCm39) |
S781T |
possibly damaging |
Het |
| Erich6 |
A |
T |
3: 58,532,475 (GRCm39) |
H377Q |
probably damaging |
Het |
| Exo5 |
C |
A |
4: 120,778,953 (GRCm39) |
G304V |
probably damaging |
Het |
| Eya2 |
C |
A |
2: 165,557,957 (GRCm39) |
S184R |
possibly damaging |
Het |
| Fhod1 |
G |
A |
8: 106,064,522 (GRCm39) |
|
probably benign |
Het |
| G6pc3 |
A |
G |
11: 102,084,496 (GRCm39) |
Y302C |
possibly damaging |
Het |
| Gart |
T |
C |
16: 91,432,995 (GRCm39) |
D318G |
probably benign |
Het |
| Gm10300 |
T |
C |
4: 131,802,246 (GRCm39) |
|
probably benign |
Het |
| Gm11937 |
A |
G |
11: 99,500,900 (GRCm39) |
V39A |
probably damaging |
Het |
| Gnas |
T |
C |
2: 174,176,044 (GRCm39) |
M60T |
probably damaging |
Het |
| Grk5 |
G |
T |
19: 60,879,064 (GRCm39) |
R16L |
probably damaging |
Het |
| Hcn3 |
A |
G |
3: 89,059,981 (GRCm39) |
L221P |
probably damaging |
Het |
| Hddc3 |
G |
A |
7: 79,992,944 (GRCm39) |
R20Q |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,415,788 (GRCm39) |
Y530H |
possibly damaging |
Het |
| Igf2bp1 |
A |
T |
11: 95,863,948 (GRCm39) |
H247Q |
probably benign |
Het |
| Igkv4-70 |
T |
A |
6: 69,244,912 (GRCm39) |
D103V |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,226,668 (GRCm39) |
M1359L |
probably damaging |
Het |
| Kalrn |
A |
G |
16: 34,038,293 (GRCm39) |
L1013S |
probably damaging |
Het |
| Kctd21 |
C |
T |
7: 96,997,291 (GRCm39) |
R255W |
probably damaging |
Het |
| Krt18 |
T |
A |
15: 101,939,204 (GRCm39) |
Y263N |
probably benign |
Het |
| Lamp5 |
C |
G |
2: 135,901,483 (GRCm39) |
N102K |
possibly damaging |
Het |
| Larp1 |
G |
A |
11: 57,933,473 (GRCm39) |
|
probably null |
Het |
| Lmnb1 |
A |
G |
18: 56,861,541 (GRCm39) |
N144S |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,278,555 (GRCm39) |
T3933S |
probably benign |
Het |
| Lrrc34 |
T |
C |
3: 30,679,008 (GRCm39) |
N363S |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 103,017,750 (GRCm39) |
|
probably null |
Het |
| Mafa |
C |
A |
15: 75,619,629 (GRCm39) |
G48V |
unknown |
Het |
| Mboat4 |
T |
C |
8: 34,591,675 (GRCm39) |
S371P |
possibly damaging |
Het |
| Mei4 |
A |
T |
9: 81,907,677 (GRCm39) |
M237L |
probably benign |
Het |
| Mfsd2a |
T |
C |
4: 122,845,054 (GRCm39) |
D219G |
probably benign |
Het |
| Msl2 |
A |
G |
9: 100,978,201 (GRCm39) |
N192D |
probably damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,429,003 (GRCm39) |
R2358M |
probably null |
Het |
| Myh10 |
A |
G |
11: 68,636,165 (GRCm39) |
T185A |
probably damaging |
Het |
| Nipsnap2 |
T |
C |
5: 129,822,352 (GRCm39) |
|
probably null |
Het |
| Notch1 |
T |
C |
2: 26,350,298 (GRCm39) |
T2281A |
probably benign |
Het |
| Odad2 |
C |
A |
18: 7,223,586 (GRCm39) |
V486F |
probably damaging |
Het |
| Or12j4 |
T |
C |
7: 140,046,800 (GRCm39) |
S229P |
probably damaging |
Het |
| Or12j4 |
G |
T |
7: 140,046,834 (GRCm39) |
C240F |
probably damaging |
Het |
| Or1e1c |
G |
T |
11: 73,266,402 (GRCm39) |
V276F |
probably benign |
Het |
| Or4q3 |
A |
T |
14: 50,582,905 (GRCm39) |
N300K |
probably damaging |
Het |
| Or5an10 |
G |
A |
19: 12,275,936 (GRCm39) |
Q187* |
probably null |
Het |
| Or5d20-ps1 |
C |
A |
2: 87,931,947 (GRCm39) |
C128F |
probably benign |
Het |
| Or8c17 |
T |
A |
9: 38,179,866 (GRCm39) |
I19N |
probably damaging |
Het |
| Or8g30 |
A |
G |
9: 39,230,089 (GRCm39) |
S274P |
probably damaging |
Het |
| Oxct1 |
T |
A |
15: 4,121,899 (GRCm39) |
S283T |
probably benign |
Het |
| Pcnx2 |
G |
T |
8: 126,479,056 (GRCm39) |
|
probably null |
Het |
| Piwil4 |
A |
G |
9: 14,627,119 (GRCm39) |
F424L |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,421,336 (GRCm39) |
S3035P |
probably damaging |
Het |
| Psmc2 |
T |
A |
5: 22,005,574 (GRCm39) |
D218E |
probably damaging |
Het |
| Ptpn7 |
C |
T |
1: 135,066,974 (GRCm39) |
P277L |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,180,436 (GRCm39) |
K27E |
probably damaging |
Het |
| Rp1l1 |
G |
T |
14: 64,267,173 (GRCm39) |
A920S |
possibly damaging |
Het |
| Rsbn1l |
A |
T |
5: 21,113,222 (GRCm39) |
H433Q |
probably benign |
Het |
| Safb |
C |
A |
17: 56,913,023 (GRCm39) |
P913Q |
possibly damaging |
Het |
| Sema7a |
G |
A |
9: 57,867,854 (GRCm39) |
V477M |
probably damaging |
Het |
| Serpina16 |
T |
A |
12: 103,635,191 (GRCm39) |
T408S |
possibly damaging |
Het |
| Six5 |
G |
A |
7: 18,828,916 (GRCm39) |
V119M |
possibly damaging |
Het |
| Slc6a16 |
C |
T |
7: 44,908,452 (GRCm39) |
P11S |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,756,389 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,515,274 (GRCm39) |
I420F |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,659,954 (GRCm39) |
D982G |
possibly damaging |
Het |
| Stag3 |
T |
A |
5: 138,299,761 (GRCm39) |
F891I |
probably damaging |
Het |
| Sugp1 |
A |
G |
8: 70,511,953 (GRCm39) |
E183G |
probably benign |
Het |
| Taf1d |
T |
C |
9: 15,219,119 (GRCm39) |
|
probably null |
Het |
| Tapbp |
T |
C |
17: 34,138,931 (GRCm39) |
S33P |
possibly damaging |
Het |
| Ubap2 |
CT |
CTTGCCCCGGT |
4: 41,227,224 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
GCCCGCTTGCCCCGCT |
GCCCGCTTGCCCCGCTTGCCCCGCT |
4: 41,227,210 (GRCm39) |
|
probably benign |
Het |
| Ubash3a |
A |
G |
17: 31,450,389 (GRCm39) |
T355A |
probably benign |
Het |
| Usp16 |
T |
G |
16: 87,267,285 (GRCm39) |
V225G |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,497,047 (GRCm39) |
V2454A |
probably benign |
Het |
| Vmn1r191 |
G |
T |
13: 22,363,720 (GRCm39) |
F11L |
probably benign |
Het |
| Vmn2r117 |
A |
T |
17: 23,697,282 (GRCm39) |
C137S |
probably damaging |
Het |
| Zfp1002 |
T |
A |
2: 150,097,198 (GRCm39) |
Y77F |
possibly damaging |
Het |
| Zfp143 |
T |
C |
7: 109,691,021 (GRCm39) |
M524T |
probably damaging |
Het |
| Zfp599 |
A |
G |
9: 22,161,140 (GRCm39) |
C342R |
probably damaging |
Het |
| Zfp777 |
T |
G |
6: 48,001,790 (GRCm39) |
K811Q |
probably damaging |
Het |
| Zfp870 |
T |
A |
17: 33,102,570 (GRCm39) |
H254L |
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 |
|
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'- TCAAATCAGGGCCTGGAAGG -3'
(R):5'- GATTGGTCTTCCTCACCTGCAG -3'
Sequencing Primer
(F):5'- AGTCCTCACATCGCAGCTG -3'
(R):5'- CTCACCTGCAGGGCCTC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation