Incidental Mutation 'R8930:Adamtsl3'
ID |
680244 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamtsl3
|
Ensembl Gene |
ENSMUSG00000070469 |
Gene Name |
ADAMTS-like 3 |
Synonyms |
9230119C12Rik, punctin-2 |
MMRRC Submission |
068774-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8930 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
81984902-82263658 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 82261069 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 29
(P29S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134150
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172784]
[ENSMUST00000173287]
[ENSMUST00000173828]
|
AlphaFold |
G3UXC7 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000134150 Gene: ENSMUSG00000070469 AA Change: P29S
Domain | Start | End | E-Value | Type |
Blast:TSP1
|
1 |
32 |
3e-16 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173287
AA Change: P1668S
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133637 Gene: ENSMUSG00000070469 AA Change: P1668S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
38 |
N/A |
INTRINSIC |
TSP1
|
90 |
136 |
6.43e-8 |
SMART |
TSP1
|
355 |
414 |
1.59e-1 |
SMART |
TSP1
|
433 |
492 |
3.72e-4 |
SMART |
TSP1
|
494 |
547 |
4.28e-4 |
SMART |
TSP1
|
579 |
638 |
1.85e-2 |
SMART |
TSP1
|
660 |
717 |
1.75e-2 |
SMART |
TSP1
|
719 |
773 |
3.45e-8 |
SMART |
TSP1
|
775 |
833 |
3.67e-3 |
SMART |
TSP1
|
836 |
894 |
8.99e-2 |
SMART |
IGc2
|
938 |
1002 |
7.59e-4 |
SMART |
IG
|
1213 |
1296 |
4.87e0 |
SMART |
IGc2
|
1326 |
1388 |
1.01e-13 |
SMART |
TSP1
|
1441 |
1498 |
1.95e-2 |
SMART |
TSP1
|
1500 |
1559 |
6.76e-2 |
SMART |
TSP1
|
1616 |
1666 |
3.84e-1 |
SMART |
Pfam:PLAC
|
1674 |
1704 |
2.4e-11 |
PFAM |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000133337 Gene: ENSMUSG00000070469 AA Change: P742S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Blast:IG
|
22 |
79 |
1e-26 |
BLAST |
SCOP:d1biha4
|
27 |
77 |
2e-5 |
SMART |
IG
|
283 |
366 |
4.87e0 |
SMART |
IGc2
|
396 |
458 |
1.01e-13 |
SMART |
TSP1
|
511 |
568 |
1.95e-2 |
SMART |
TSP1
|
570 |
629 |
6.76e-2 |
SMART |
TSP1
|
686 |
736 |
3.84e-1 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
All alleles(10) : Targeted(7) Gene trapped(2) Spontaneous(1)
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
C |
18: 6,629,693 (GRCm39) |
|
probably null |
Het |
Abl2 |
A |
G |
1: 156,461,402 (GRCm39) |
T435A |
probably damaging |
Het |
Ankrd11 |
C |
T |
8: 123,622,718 (GRCm39) |
R378K |
probably damaging |
Het |
Arap1 |
G |
A |
7: 101,057,324 (GRCm39) |
R1355Q |
possibly damaging |
Het |
Ass1 |
T |
A |
2: 31,382,387 (GRCm39) |
M186K |
probably damaging |
Het |
Bckdk |
A |
G |
7: 127,507,182 (GRCm39) |
D312G |
probably benign |
Het |
Btg3 |
T |
A |
16: 78,170,298 (GRCm39) |
N3I |
probably benign |
Het |
Cd163 |
T |
C |
6: 124,294,882 (GRCm39) |
F649L |
probably damaging |
Het |
Cdh1 |
ACTCGAAATGATGTGGCTC |
ACTC |
8: 107,392,870 (GRCm39) |
|
probably benign |
Het |
Cnksr3 |
A |
T |
10: 7,110,780 (GRCm39) |
V27E |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,580,665 (GRCm39) |
S1512T |
probably benign |
Het |
Cstf1 |
A |
G |
2: 172,217,623 (GRCm39) |
T79A |
probably benign |
Het |
Defa24 |
T |
C |
8: 22,225,373 (GRCm39) |
Y88H |
probably benign |
Het |
Dgkz |
C |
T |
2: 91,769,915 (GRCm39) |
R389Q |
probably damaging |
Het |
Dsg3 |
T |
A |
18: 20,672,718 (GRCm39) |
D796E |
probably damaging |
Het |
Dyrk3 |
G |
T |
1: 131,057,293 (GRCm39) |
D293E |
probably damaging |
Het |
Epb42 |
T |
C |
2: 120,854,767 (GRCm39) |
D606G |
probably benign |
Het |
Erich5 |
G |
A |
15: 34,453,844 (GRCm39) |
G18S |
probably benign |
Het |
Fam8a1 |
C |
T |
13: 46,827,868 (GRCm39) |
T352M |
probably benign |
Het |
Fastkd3 |
T |
A |
13: 68,731,835 (GRCm39) |
L52Q |
probably benign |
Het |
Fat3 |
G |
A |
9: 15,910,819 (GRCm39) |
H1728Y |
probably benign |
Het |
Fgl1 |
A |
G |
8: 41,662,868 (GRCm39) |
V39A |
probably benign |
Het |
Gm7298 |
T |
C |
6: 121,742,030 (GRCm39) |
V484A |
probably benign |
Het |
Gpr75 |
A |
G |
11: 30,842,571 (GRCm39) |
Q492R |
possibly damaging |
Het |
Hoxc8 |
A |
G |
15: 102,899,318 (GRCm39) |
H36R |
possibly damaging |
Het |
Insyn2a |
A |
G |
7: 134,500,881 (GRCm39) |
I408T |
probably damaging |
Het |
Insyn2b |
T |
C |
11: 34,352,707 (GRCm39) |
S250P |
probably benign |
Het |
Isy1 |
T |
C |
6: 87,798,513 (GRCm39) |
I214V |
probably damaging |
Het |
Kdm5b |
C |
T |
1: 134,544,010 (GRCm39) |
P853L |
probably damaging |
Het |
Man2b1 |
A |
G |
8: 85,822,022 (GRCm39) |
T746A |
probably damaging |
Het |
Mast3 |
A |
T |
8: 71,234,377 (GRCm39) |
|
probably benign |
Het |
Mki67 |
A |
G |
7: 135,300,628 (GRCm39) |
S1469P |
possibly damaging |
Het |
Mrps30 |
C |
T |
13: 118,523,695 (GRCm39) |
A26T |
probably benign |
Het |
Mup10 |
T |
A |
4: 60,536,708 (GRCm39) |
T92S |
possibly damaging |
Het |
Otud7a |
A |
G |
7: 63,407,239 (GRCm39) |
D514G |
possibly damaging |
Het |
Pacs1 |
T |
A |
19: 5,185,030 (GRCm39) |
S932C |
probably damaging |
Het |
Pbx2 |
C |
T |
17: 34,813,563 (GRCm39) |
R188C |
probably damaging |
Het |
Pclo |
C |
T |
5: 14,762,989 (GRCm39) |
P536S |
possibly damaging |
Het |
Pdxdc1 |
A |
T |
16: 13,672,269 (GRCm39) |
I377N |
probably damaging |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Phip |
T |
C |
9: 82,789,041 (GRCm39) |
K758E |
possibly damaging |
Het |
Pramel34 |
T |
G |
5: 93,785,944 (GRCm39) |
D112A |
probably benign |
Het |
Ptprm |
C |
T |
17: 67,263,846 (GRCm39) |
R467H |
probably benign |
Het |
Scnn1b |
C |
T |
7: 121,502,067 (GRCm39) |
R242C |
probably damaging |
Het |
Seh1l |
T |
C |
18: 67,908,134 (GRCm39) |
S19P |
possibly damaging |
Het |
Slc28a1 |
T |
A |
7: 80,817,715 (GRCm39) |
V528D |
probably benign |
Het |
Slc6a17 |
G |
T |
3: 107,379,507 (GRCm39) |
Q554K |
probably benign |
Het |
Spag16 |
G |
A |
1: 70,338,928 (GRCm39) |
|
probably null |
Het |
Spata31d1e |
C |
T |
13: 59,890,015 (GRCm39) |
E184K |
possibly damaging |
Het |
Srfbp1 |
T |
A |
18: 52,623,117 (GRCm39) |
N377K |
possibly damaging |
Het |
Stap2 |
A |
G |
17: 56,304,895 (GRCm39) |
S296P |
probably benign |
Het |
Tnr |
A |
T |
1: 159,740,359 (GRCm39) |
I1178F |
probably damaging |
Het |
Tomt |
C |
T |
7: 101,550,350 (GRCm39) |
A139T |
probably damaging |
Het |
Trak2 |
T |
C |
1: 58,974,967 (GRCm39) |
Q75R |
probably benign |
Het |
Tulp1 |
T |
C |
17: 28,583,468 (GRCm39) |
K58E |
probably benign |
Het |
Utp6 |
A |
G |
11: 79,834,055 (GRCm39) |
|
probably null |
Het |
Vmn1r21 |
T |
C |
6: 57,820,998 (GRCm39) |
T149A |
probably benign |
Het |
Vmn1r238 |
C |
T |
18: 3,123,127 (GRCm39) |
V96M |
probably benign |
Het |
Vmn1r9 |
T |
A |
6: 57,048,666 (GRCm39) |
I247N |
probably damaging |
Het |
Vps33b |
T |
C |
7: 79,932,241 (GRCm39) |
C138R |
possibly damaging |
Het |
Wnk1 |
A |
T |
6: 119,940,226 (GRCm39) |
V837E |
probably damaging |
Het |
Xirp2 |
C |
T |
2: 67,312,707 (GRCm39) |
H59Y |
possibly damaging |
Het |
Zbtb38 |
G |
T |
9: 96,568,434 (GRCm39) |
D883E |
probably benign |
Het |
Zbtb7a |
C |
A |
10: 80,980,368 (GRCm39) |
D187E |
probably benign |
Het |
Zfp511 |
T |
C |
7: 139,617,442 (GRCm39) |
V148A |
probably damaging |
Het |
Zfp52 |
A |
G |
17: 21,780,692 (GRCm39) |
D180G |
possibly damaging |
Het |
|
Other mutations in Adamtsl3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01549:Adamtsl3
|
APN |
7 |
82,261,656 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01936:Adamtsl3
|
APN |
7 |
82,244,579 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02819:Adamtsl3
|
APN |
7 |
82,223,329 (GRCm39) |
missense |
probably damaging |
0.99 |
P0012:Adamtsl3
|
UTSW |
7 |
82,223,465 (GRCm39) |
missense |
probably benign |
0.27 |
R0096:Adamtsl3
|
UTSW |
7 |
82,114,907 (GRCm39) |
intron |
probably benign |
|
R0096:Adamtsl3
|
UTSW |
7 |
82,114,907 (GRCm39) |
intron |
probably benign |
|
R0180:Adamtsl3
|
UTSW |
7 |
82,225,198 (GRCm39) |
missense |
probably benign |
0.00 |
R0270:Adamtsl3
|
UTSW |
7 |
82,206,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R0295:Adamtsl3
|
UTSW |
7 |
82,197,213 (GRCm39) |
critical splice donor site |
probably null |
|
R0329:Adamtsl3
|
UTSW |
7 |
82,171,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R0330:Adamtsl3
|
UTSW |
7 |
82,171,198 (GRCm39) |
missense |
probably damaging |
1.00 |
R0548:Adamtsl3
|
UTSW |
7 |
82,178,191 (GRCm39) |
critical splice donor site |
probably null |
|
R0611:Adamtsl3
|
UTSW |
7 |
82,178,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R0671:Adamtsl3
|
UTSW |
7 |
82,172,390 (GRCm39) |
missense |
probably damaging |
1.00 |
R0711:Adamtsl3
|
UTSW |
7 |
82,114,907 (GRCm39) |
intron |
probably benign |
|
R0845:Adamtsl3
|
UTSW |
7 |
82,225,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R1119:Adamtsl3
|
UTSW |
7 |
82,189,525 (GRCm39) |
missense |
probably damaging |
0.96 |
R1458:Adamtsl3
|
UTSW |
7 |
82,172,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R1644:Adamtsl3
|
UTSW |
7 |
82,099,298 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1691:Adamtsl3
|
UTSW |
7 |
82,148,814 (GRCm39) |
missense |
probably damaging |
1.00 |
R1838:Adamtsl3
|
UTSW |
7 |
82,142,581 (GRCm39) |
missense |
probably damaging |
1.00 |
R2131:Adamtsl3
|
UTSW |
7 |
82,227,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R2245:Adamtsl3
|
UTSW |
7 |
82,099,308 (GRCm39) |
missense |
probably damaging |
1.00 |
R2274:Adamtsl3
|
UTSW |
7 |
82,255,766 (GRCm39) |
missense |
probably benign |
0.37 |
R2275:Adamtsl3
|
UTSW |
7 |
82,255,766 (GRCm39) |
missense |
probably benign |
0.37 |
R2448:Adamtsl3
|
UTSW |
7 |
82,148,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R3725:Adamtsl3
|
UTSW |
7 |
82,261,612 (GRCm39) |
missense |
possibly damaging |
0.80 |
R3757:Adamtsl3
|
UTSW |
7 |
81,986,415 (GRCm39) |
missense |
probably benign |
0.01 |
R3821:Adamtsl3
|
UTSW |
7 |
82,255,687 (GRCm39) |
splice site |
probably benign |
|
R4618:Adamtsl3
|
UTSW |
7 |
82,255,728 (GRCm39) |
missense |
probably benign |
0.41 |
R4842:Adamtsl3
|
UTSW |
7 |
82,178,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R4887:Adamtsl3
|
UTSW |
7 |
82,223,822 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4888:Adamtsl3
|
UTSW |
7 |
82,223,822 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4925:Adamtsl3
|
UTSW |
7 |
82,251,507 (GRCm39) |
critical splice donor site |
probably null |
|
R4960:Adamtsl3
|
UTSW |
7 |
82,216,185 (GRCm39) |
missense |
probably damaging |
0.99 |
R5026:Adamtsl3
|
UTSW |
7 |
82,225,262 (GRCm39) |
missense |
probably benign |
0.07 |
R5152:Adamtsl3
|
UTSW |
7 |
82,223,752 (GRCm39) |
missense |
probably benign |
0.11 |
R5198:Adamtsl3
|
UTSW |
7 |
82,261,006 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5244:Adamtsl3
|
UTSW |
7 |
82,247,277 (GRCm39) |
missense |
probably benign |
0.02 |
R5281:Adamtsl3
|
UTSW |
7 |
82,178,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R5323:Adamtsl3
|
UTSW |
7 |
82,206,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R5523:Adamtsl3
|
UTSW |
7 |
82,223,650 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5602:Adamtsl3
|
UTSW |
7 |
82,206,447 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5638:Adamtsl3
|
UTSW |
7 |
82,260,958 (GRCm39) |
missense |
probably damaging |
0.99 |
R5682:Adamtsl3
|
UTSW |
7 |
82,255,758 (GRCm39) |
missense |
probably damaging |
0.99 |
R5782:Adamtsl3
|
UTSW |
7 |
82,189,494 (GRCm39) |
splice site |
probably null |
|
R5946:Adamtsl3
|
UTSW |
7 |
82,225,265 (GRCm39) |
missense |
probably damaging |
0.98 |
R6091:Adamtsl3
|
UTSW |
7 |
82,114,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R6258:Adamtsl3
|
UTSW |
7 |
82,178,191 (GRCm39) |
critical splice donor site |
probably null |
|
R6500:Adamtsl3
|
UTSW |
7 |
82,227,818 (GRCm39) |
missense |
probably benign |
0.00 |
R6765:Adamtsl3
|
UTSW |
7 |
82,216,232 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6785:Adamtsl3
|
UTSW |
7 |
82,171,212 (GRCm39) |
missense |
probably damaging |
0.99 |
R6982:Adamtsl3
|
UTSW |
7 |
82,164,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R7109:Adamtsl3
|
UTSW |
7 |
82,261,069 (GRCm39) |
missense |
|
|
R7341:Adamtsl3
|
UTSW |
7 |
82,206,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R7402:Adamtsl3
|
UTSW |
7 |
82,227,825 (GRCm39) |
missense |
probably damaging |
0.96 |
R7506:Adamtsl3
|
UTSW |
7 |
82,164,186 (GRCm39) |
missense |
probably damaging |
1.00 |
R7549:Adamtsl3
|
UTSW |
7 |
82,223,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R7575:Adamtsl3
|
UTSW |
7 |
82,223,756 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7592:Adamtsl3
|
UTSW |
7 |
81,986,459 (GRCm39) |
missense |
probably benign |
0.00 |
R7617:Adamtsl3
|
UTSW |
7 |
82,206,054 (GRCm39) |
splice site |
probably null |
|
R7654:Adamtsl3
|
UTSW |
7 |
82,223,702 (GRCm39) |
missense |
probably benign |
|
R7721:Adamtsl3
|
UTSW |
7 |
82,255,728 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7784:Adamtsl3
|
UTSW |
7 |
82,223,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R7858:Adamtsl3
|
UTSW |
7 |
82,099,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R8109:Adamtsl3
|
UTSW |
7 |
82,251,487 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8125:Adamtsl3
|
UTSW |
7 |
82,099,541 (GRCm39) |
splice site |
probably null |
|
R8211:Adamtsl3
|
UTSW |
7 |
82,172,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R8348:Adamtsl3
|
UTSW |
7 |
82,253,007 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8360:Adamtsl3
|
UTSW |
7 |
82,197,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R8448:Adamtsl3
|
UTSW |
7 |
82,253,007 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8465:Adamtsl3
|
UTSW |
7 |
82,247,330 (GRCm39) |
missense |
probably benign |
0.43 |
R8547:Adamtsl3
|
UTSW |
7 |
82,077,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R8551:Adamtsl3
|
UTSW |
7 |
82,189,678 (GRCm39) |
missense |
probably benign |
0.34 |
R8558:Adamtsl3
|
UTSW |
7 |
82,077,600 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8709:Adamtsl3
|
UTSW |
7 |
82,077,642 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8722:Adamtsl3
|
UTSW |
7 |
82,244,745 (GRCm39) |
critical splice donor site |
probably null |
|
R8932:Adamtsl3
|
UTSW |
7 |
82,261,069 (GRCm39) |
missense |
|
|
R9131:Adamtsl3
|
UTSW |
7 |
82,244,722 (GRCm39) |
missense |
probably benign |
0.00 |
R9169:Adamtsl3
|
UTSW |
7 |
82,223,188 (GRCm39) |
missense |
probably damaging |
0.99 |
R9272:Adamtsl3
|
UTSW |
7 |
82,189,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R9276:Adamtsl3
|
UTSW |
7 |
82,206,710 (GRCm39) |
intron |
probably benign |
|
R9351:Adamtsl3
|
UTSW |
7 |
82,169,929 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9352:Adamtsl3
|
UTSW |
7 |
82,091,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R9749:Adamtsl3
|
UTSW |
7 |
82,099,394 (GRCm39) |
missense |
probably benign |
0.04 |
R9750:Adamtsl3
|
UTSW |
7 |
82,244,589 (GRCm39) |
missense |
probably benign |
0.11 |
RF005:Adamtsl3
|
UTSW |
7 |
82,261,603 (GRCm39) |
missense |
|
|
X0003:Adamtsl3
|
UTSW |
7 |
82,260,967 (GRCm39) |
nonsense |
probably null |
|
X0063:Adamtsl3
|
UTSW |
7 |
82,223,365 (GRCm39) |
missense |
probably benign |
0.25 |
Z1088:Adamtsl3
|
UTSW |
7 |
82,189,533 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Adamtsl3
|
UTSW |
7 |
82,148,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGGAAGGAACTGCACCTTGG -3'
(R):5'- TGTTCACCTATATGAGCACCATTG -3'
Sequencing Primer
(F):5'- ACCTTGGGGCCATGTGAAG -3'
(R):5'- ATATGAGCACCATTGGCTTGC -3'
|
Posted On |
2021-08-31 |