Incidental Mutation 'R8261:Adamtsl1'
| ID |
639910 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl1
|
| Ensembl Gene |
ENSMUSG00000066113 |
| Gene Name |
ADAMTS-like 1 |
| Synonyms |
punctin-1, 5930437A14Rik, 6720426B09Rik |
| MMRRC Submission |
067686-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.291)
|
| Stock # |
R8261 (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 C
at 86195120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 512
(E512D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107178]
[ENSMUST00000141889]
|
| AlphaFold |
Q8BLI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107178
AA Change: E512D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
AA Change: E512D
| 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: E529D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: E529D
| 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 |
|
| Meta Mutation Damage Score |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (76/76) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
C |
15: 59,888,425 (GRCm39) |
E5G |
probably benign |
Het |
| Adam23 |
T |
C |
1: 63,567,957 (GRCm39) |
V202A |
noncoding transcript |
Het |
| Ahnak |
A |
T |
19: 8,982,817 (GRCm39) |
D1367V |
probably damaging |
Het |
| Angpt4 |
A |
T |
2: 151,769,084 (GRCm39) |
Q198L |
probably benign |
Het |
| Apcdd1 |
T |
A |
18: 63,066,974 (GRCm39) |
H29Q |
possibly damaging |
Het |
| Cdh16 |
T |
A |
8: 105,341,811 (GRCm39) |
K755* |
probably null |
Het |
| Cdk6 |
T |
G |
5: 3,440,685 (GRCm39) |
F80V |
probably benign |
Het |
| Chd1 |
T |
C |
17: 17,607,804 (GRCm39) |
S451P |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,799,002 (GRCm39) |
L2361P |
probably damaging |
Het |
| Chst8 |
A |
G |
7: 34,447,579 (GRCm39) |
M13T |
possibly damaging |
Het |
| Cntnap2 |
T |
C |
6: 47,072,627 (GRCm39) |
L1065P |
probably damaging |
Het |
| Dctn4 |
T |
C |
18: 60,659,343 (GRCm39) |
V14A |
possibly damaging |
Het |
| Dicer1 |
A |
T |
12: 104,657,865 (GRCm39) |
V1903D |
probably damaging |
Het |
| E2f2 |
A |
G |
4: 135,911,791 (GRCm39) |
|
silent |
Het |
| Eif4g3 |
T |
A |
4: 137,898,429 (GRCm39) |
S902T |
possibly damaging |
Het |
| Emid1 |
G |
T |
11: 5,084,353 (GRCm39) |
A152D |
probably benign |
Het |
| Fer1l6 |
T |
A |
15: 58,432,345 (GRCm39) |
N297K |
possibly damaging |
Het |
| Fes |
T |
C |
7: 80,032,902 (GRCm39) |
D281G |
probably null |
Het |
| Frmpd2 |
T |
C |
14: 33,224,934 (GRCm39) |
V133A |
probably benign |
Het |
| Fry |
A |
G |
5: 150,369,372 (GRCm39) |
Y2282C |
probably damaging |
Het |
| Gm10377 |
C |
T |
14: 42,616,664 (GRCm39) |
|
probably null |
Het |
| Gm1527 |
A |
G |
3: 28,974,749 (GRCm39) |
T521A |
probably damaging |
Het |
| Gpr141 |
T |
A |
13: 19,936,013 (GRCm39) |
H254L |
probably benign |
Het |
| Gpr160 |
A |
G |
3: 30,950,096 (GRCm39) |
E56G |
probably benign |
Het |
| Grid2ip |
T |
G |
5: 143,367,695 (GRCm39) |
|
probably null |
Het |
| Grin2a |
A |
G |
16: 9,481,382 (GRCm39) |
F473S |
probably damaging |
Het |
| Igkv1-131 |
T |
C |
6: 67,743,102 (GRCm39) |
T94A |
probably damaging |
Het |
| Inava |
T |
A |
1: 136,153,215 (GRCm39) |
N226Y |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,772,078 (GRCm39) |
L1367P |
probably damaging |
Het |
| Kdm5d |
T |
A |
Y: 936,929 (GRCm39) |
M856K |
probably damaging |
Het |
| Kirrel1 |
T |
C |
3: 86,995,309 (GRCm39) |
|
probably benign |
Het |
| Lad1 |
T |
C |
1: 135,755,500 (GRCm39) |
S259P |
probably damaging |
Het |
| Lalba |
A |
T |
15: 98,379,992 (GRCm39) |
F86Y |
possibly damaging |
Het |
| Lrfn5 |
G |
A |
12: 61,886,323 (GRCm39) |
C37Y |
probably damaging |
Het |
| Man2c1 |
A |
G |
9: 57,046,942 (GRCm39) |
T665A |
probably benign |
Het |
| Ms4a20 |
T |
A |
19: 11,087,707 (GRCm39) |
S75C |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,041,867 (GRCm39) |
I719V |
|
Het |
| Nbl1 |
A |
T |
4: 138,812,832 (GRCm39) |
C34S |
probably damaging |
Het |
| Ncapg |
T |
A |
5: 45,844,730 (GRCm39) |
I575N |
possibly damaging |
Het |
| Nlgn1 |
T |
C |
3: 25,487,816 (GRCm39) |
T840A |
possibly damaging |
Het |
| Nrdc |
T |
C |
4: 108,873,876 (GRCm39) |
S231P |
possibly damaging |
Het |
| Nrg2 |
T |
C |
18: 36,165,428 (GRCm39) |
K395E |
probably benign |
Het |
| Nrip1 |
A |
T |
16: 76,088,949 (GRCm39) |
N869K |
possibly damaging |
Het |
| Or2a14 |
T |
A |
6: 43,130,242 (GRCm39) |
M1K |
probably null |
Het |
| Or4c12 |
A |
G |
2: 89,773,716 (GRCm39) |
F248L |
probably benign |
Het |
| Or8s16 |
A |
T |
15: 98,210,546 (GRCm39) |
M295K |
probably benign |
Het |
| Otub2 |
G |
T |
12: 103,369,161 (GRCm39) |
|
probably null |
Het |
| Paxbp1 |
T |
C |
16: 90,834,303 (GRCm39) |
D161G |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
| Per2 |
T |
A |
1: 91,361,170 (GRCm39) |
Q495L |
possibly damaging |
Het |
| Plxna2 |
T |
A |
1: 194,431,724 (GRCm39) |
V571E |
probably damaging |
Het |
| Prr7 |
C |
A |
13: 55,620,735 (GRCm39) |
P248T |
possibly damaging |
Het |
| Ptprr |
A |
T |
10: 116,073,169 (GRCm39) |
T464S |
possibly damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,993,325 (GRCm39) |
V721A |
probably benign |
Het |
| Rfx1 |
A |
T |
8: 84,819,479 (GRCm39) |
Y625F |
probably benign |
Het |
| Rps6kb2 |
G |
T |
19: 4,211,195 (GRCm39) |
A110D |
possibly damaging |
Het |
| Setdb2 |
A |
T |
14: 59,651,141 (GRCm39) |
|
probably benign |
Het |
| Slc25a31 |
T |
C |
3: 40,679,351 (GRCm39) |
I272T |
probably damaging |
Het |
| Smpd1 |
T |
C |
7: 105,204,520 (GRCm39) |
V133A |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,925,777 (GRCm39) |
D1185G |
probably damaging |
Het |
| Spag6 |
T |
A |
2: 18,750,301 (GRCm39) |
L449H |
probably benign |
Het |
| Sptb |
C |
A |
12: 76,668,036 (GRCm39) |
R687L |
probably benign |
Het |
| Sptbn5 |
A |
T |
2: 119,877,616 (GRCm39) |
V1012E |
noncoding transcript |
Het |
| Tmem192 |
A |
G |
8: 65,416,972 (GRCm39) |
I188V |
probably benign |
Het |
| Tmem253 |
G |
A |
14: 52,256,708 (GRCm39) |
V194M |
probably benign |
Het |
| Tph1 |
A |
G |
7: 46,303,173 (GRCm39) |
|
silent |
Het |
| Trak1 |
A |
G |
9: 121,280,733 (GRCm39) |
E374G |
probably damaging |
Het |
| Trpv1 |
A |
T |
11: 73,145,593 (GRCm39) |
|
probably null |
Het |
| Trub2 |
T |
C |
2: 29,667,725 (GRCm39) |
H305R |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,747,768 (GRCm39) |
V4427A |
probably benign |
Het |
| Vasn |
A |
G |
16: 4,466,160 (GRCm39) |
T36A |
probably damaging |
Het |
| Vmn1r8 |
A |
T |
6: 57,013,158 (GRCm39) |
I70F |
probably benign |
Het |
| Vps13c |
A |
T |
9: 67,862,262 (GRCm39) |
I2960L |
probably damaging |
Het |
| Zdhhc4 |
C |
A |
5: 143,307,588 (GRCm39) |
M144I |
probably benign |
Het |
| Zfp273 |
T |
A |
13: 67,974,070 (GRCm39) |
N399K |
probably benign |
Het |
| Zfp976 |
T |
A |
7: 42,262,125 (GRCm39) |
T572S |
unknown |
Het |
| Zmym4 |
A |
G |
4: 126,798,360 (GRCm39) |
C756R |
probably 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 |
|
|
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 |
|
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'- AGTGGCCAATGAGCTCATG -3'
(R):5'- AGAGTCCGTCTCCGTTATCC -3'
Sequencing Primer
(F):5'- GCTCATGAACTAAAGTGAAGCTGCC -3'
(R):5'- GGGTTAAATTCCGGAGTTTCCCC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation