Incidental Mutation 'R9015:Adamtsl1'
| ID |
685902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adamtsl1
|
| Ensembl Gene |
ENSMUSG00000066113 |
| Gene Name |
ADAMTS-like 1 |
| Synonyms |
punctin-1, 5930437A14Rik, 6720426B09Rik |
| MMRRC Submission |
068845-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.238)
|
| Stock # |
R9015 (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 G
at 86150847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 335
(D335G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119278
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048885]
[ENSMUST00000107178]
[ENSMUST00000141889]
|
| AlphaFold |
Q8BLI0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048885
AA Change: D335G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043073
Gene: ENSMUSG00000066113
AA Change: D335G
| 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: D335G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102796
Gene: ENSMUSG00000066113
AA Change: D335G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000123343
Gene: ENSMUSG00000066113
AA Change: D163G
| 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: D335G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119278
Gene: ENSMUSG00000066113
AA Change: D335G
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (93/93) |
| 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: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
C |
5: 8,136,688 (GRCm39) |
|
probably benign |
Het |
| Adcy8 |
T |
C |
15: 64,597,206 (GRCm39) |
|
probably benign |
Het |
| Alas1 |
A |
T |
9: 106,113,670 (GRCm39) |
I525N |
probably benign |
Het |
| Aoah |
A |
T |
13: 21,184,197 (GRCm39) |
|
silent |
Het |
| Aox1 |
G |
A |
1: 58,382,851 (GRCm39) |
V1044M |
probably damaging |
Het |
| Apcdd1 |
A |
T |
18: 63,083,157 (GRCm39) |
Y329F |
possibly damaging |
Het |
| Arhgap10 |
A |
C |
8: 77,985,687 (GRCm39) |
C727G |
probably benign |
Het |
| Arid4a |
G |
A |
12: 71,122,168 (GRCm39) |
D528N |
possibly damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,887,250 (GRCm39) |
V611A |
|
Het |
| BC004004 |
T |
C |
17: 29,517,637 (GRCm39) |
F284L |
probably damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cep295 |
T |
C |
9: 15,244,264 (GRCm39) |
I1397M |
probably benign |
Het |
| Cep63 |
A |
G |
9: 102,496,111 (GRCm39) |
S99P |
probably damaging |
Het |
| Coq3 |
T |
A |
4: 21,899,107 (GRCm39) |
S147T |
probably benign |
Het |
| Crym |
A |
T |
7: 119,801,090 (GRCm39) |
S20T |
probably benign |
Het |
| Ctr9 |
T |
A |
7: 110,643,108 (GRCm39) |
N493K |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,188,751 (GRCm39) |
I1372V |
possibly damaging |
Het |
| Ddi2 |
G |
A |
4: 141,412,747 (GRCm39) |
T55M |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,986,316 (GRCm39) |
M3724V |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,326,337 (GRCm39) |
I4690V |
probably benign |
Het |
| Ect2l |
T |
C |
10: 18,039,148 (GRCm39) |
T429A |
probably benign |
Het |
| Eif3c |
G |
T |
7: 126,155,538 (GRCm39) |
H577N |
probably damaging |
Het |
| Erg |
A |
G |
16: 95,162,126 (GRCm39) |
S334P |
possibly damaging |
Het |
| Faf2 |
A |
G |
13: 54,796,139 (GRCm39) |
S127G |
probably benign |
Het |
| Fbxl3 |
T |
A |
14: 103,329,790 (GRCm39) |
T141S |
possibly damaging |
Het |
| Fbxw4 |
T |
A |
19: 45,624,874 (GRCm39) |
M122L |
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,271,941 (GRCm39) |
M476V |
probably damaging |
Het |
| Flvcr2 |
A |
T |
12: 85,829,779 (GRCm39) |
I263F |
probably benign |
Het |
| Gadl1 |
A |
T |
9: 115,794,705 (GRCm39) |
R293S |
probably benign |
Het |
| Gm11983 |
G |
T |
11: 6,787,033 (GRCm39) |
F31L |
unknown |
Het |
| Gmnn |
A |
T |
13: 24,940,638 (GRCm39) |
N70K |
probably benign |
Het |
| Gpr3 |
A |
G |
4: 132,938,390 (GRCm39) |
V94A |
possibly damaging |
Het |
| Greb1l |
A |
G |
18: 10,541,675 (GRCm39) |
S1141G |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,870,792 (GRCm39) |
V2892E |
probably damaging |
Het |
| Hivep1 |
T |
A |
13: 42,311,849 (GRCm39) |
M1363K |
probably benign |
Het |
| Hk1 |
T |
A |
10: 62,128,118 (GRCm39) |
T336S |
possibly damaging |
Het |
| Hpgds |
A |
T |
6: 65,115,229 (GRCm39) |
I18N |
possibly damaging |
Het |
| Insrr |
T |
A |
3: 87,720,910 (GRCm39) |
L1056Q |
probably damaging |
Het |
| Ints10 |
A |
G |
8: 69,260,139 (GRCm39) |
M288V |
probably benign |
Het |
| Itgb6 |
T |
C |
2: 60,485,032 (GRCm39) |
D237G |
probably damaging |
Het |
| Kcnf1 |
A |
G |
12: 17,225,303 (GRCm39) |
I306T |
probably damaging |
Het |
| Kdm3b |
G |
A |
18: 34,963,212 (GRCm39) |
G1556D |
probably damaging |
Het |
| Kif5b |
A |
G |
18: 6,216,892 (GRCm39) |
L477P |
probably damaging |
Het |
| Klf5 |
T |
G |
14: 99,540,919 (GRCm39) |
*310G |
probably null |
Het |
| Lnx1 |
A |
G |
5: 74,780,783 (GRCm39) |
V246A |
probably benign |
Het |
| Ly75 |
C |
T |
2: 60,146,442 (GRCm39) |
E1279K |
probably benign |
Het |
| Lztr1 |
T |
A |
16: 17,337,305 (GRCm39) |
C233S |
probably benign |
Het |
| Mfsd6l |
T |
G |
11: 68,447,536 (GRCm39) |
I129S |
probably benign |
Het |
| Mrgprx2 |
T |
A |
7: 48,148,938 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,145,285 (GRCm39) |
|
probably benign |
Het |
| Or10ag53 |
T |
A |
2: 87,082,546 (GRCm39) |
Y88* |
probably null |
Het |
| Or12e9 |
T |
A |
2: 87,202,485 (GRCm39) |
M203K |
possibly damaging |
Het |
| Or2a25 |
G |
T |
6: 42,888,825 (GRCm39) |
V123L |
possibly damaging |
Het |
| Or8g30 |
A |
C |
9: 39,230,019 (GRCm39) |
V297G |
probably damaging |
Het |
| Pde6a |
A |
G |
18: 61,397,047 (GRCm39) |
H631R |
probably damaging |
Het |
| Pfkl |
C |
T |
10: 77,824,794 (GRCm39) |
G665D |
probably damaging |
Het |
| Pik3ap1 |
T |
A |
19: 41,270,430 (GRCm39) |
E753V |
probably damaging |
Het |
| Pik3cd |
G |
T |
4: 149,740,055 (GRCm39) |
R502S |
probably benign |
Het |
| Piwil2 |
T |
A |
14: 70,627,984 (GRCm39) |
I762L |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,784,636 (GRCm39) |
L394* |
probably null |
Het |
| Plekhb2 |
A |
G |
1: 34,916,046 (GRCm39) |
D195G |
probably benign |
Het |
| Plppr5 |
T |
C |
3: 117,456,103 (GRCm39) |
M208T |
probably damaging |
Het |
| Polr2i |
G |
A |
7: 29,932,513 (GRCm39) |
V115I |
unknown |
Het |
| Prkacb |
T |
C |
3: 146,456,239 (GRCm39) |
S187G |
probably null |
Het |
| Prkag3 |
G |
T |
1: 74,780,353 (GRCm39) |
H437Q |
probably benign |
Het |
| Prlr |
T |
A |
15: 10,319,352 (GRCm39) |
Y94N |
probably damaging |
Het |
| Prmt6 |
T |
C |
3: 110,157,214 (GRCm39) |
I358M |
probably benign |
Het |
| Psd4 |
A |
G |
2: 24,287,492 (GRCm39) |
R475G |
|
Het |
| Rad51b |
G |
A |
12: 79,347,417 (GRCm39) |
C27Y |
probably damaging |
Het |
| Scfd2 |
A |
G |
5: 74,691,625 (GRCm39) |
L219P |
probably damaging |
Het |
| Scn5a |
G |
A |
9: 119,381,142 (GRCm39) |
|
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,121,287 (GRCm39) |
V391A |
probably benign |
Het |
| Selenbp2 |
T |
A |
3: 94,607,332 (GRCm39) |
L251Q |
probably damaging |
Het |
| Sh3rf1 |
T |
C |
8: 61,827,202 (GRCm39) |
V652A |
probably benign |
Het |
| Slc11a2 |
A |
G |
15: 100,301,186 (GRCm39) |
V289A |
probably benign |
Het |
| Smim29 |
T |
C |
17: 27,783,223 (GRCm39) |
D48G |
probably benign |
Het |
| Sox8 |
T |
A |
17: 25,789,135 (GRCm39) |
Y121F |
probably damaging |
Het |
| Taar7a |
A |
T |
10: 23,868,733 (GRCm39) |
I216N |
probably damaging |
Het |
| Tanc1 |
T |
A |
2: 59,622,224 (GRCm39) |
S448T |
probably benign |
Het |
| Tas2r119 |
G |
A |
15: 32,178,226 (GRCm39) |
G264D |
probably damaging |
Het |
| Trav7-6 |
A |
G |
14: 53,954,604 (GRCm39) |
K65E |
probably benign |
Het |
| Trim17 |
A |
G |
11: 58,856,057 (GRCm39) |
E38G |
probably damaging |
Het |
| Trub2 |
A |
T |
2: 29,668,276 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,571,964 (GRCm39) |
M26310L |
probably damaging |
Het |
| Unc13c |
T |
G |
9: 73,453,322 (GRCm39) |
I1823L |
probably benign |
Het |
| Vav2 |
C |
A |
2: 27,160,151 (GRCm39) |
E728* |
probably null |
Het |
| Virma |
A |
G |
4: 11,540,494 (GRCm39) |
D1465G |
probably benign |
Het |
| Vmn2r72 |
T |
G |
7: 85,398,388 (GRCm39) |
M531L |
probably benign |
Het |
| Vwa3b |
G |
A |
1: 37,203,597 (GRCm39) |
V59I |
possibly damaging |
Het |
| Xrcc1 |
G |
A |
7: 24,271,642 (GRCm39) |
E542K |
probably benign |
Het |
| Zdhhc6 |
T |
G |
19: 55,287,318 (GRCm39) |
T381P |
probably benign |
Het |
| Zdhhc8 |
T |
C |
16: 18,041,141 (GRCm39) |
S740G |
probably damaging |
Het |
| Zfp106 |
T |
C |
2: 120,364,019 (GRCm39) |
K819R |
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 |
|
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 |
|
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'- TCTCGTCACAAGACAGCAGGAG -3'
Sequencing Primer
(F):5'- TGGGAATAATATCCTTAACTTAGCCC -3'
(R):5'- CACTAATGGTGGGGACGCTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation