Incidental Mutation 'R0711:Adamtsl3'
ID |
62737 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamtsl3
|
Ensembl Gene |
ENSMUSG00000070469 |
Gene Name |
ADAMTS-like 3 |
Synonyms |
9230119C12Rik, punctin-2 |
MMRRC Submission |
038894-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0711 (G1)
|
Quality Score |
131 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
81984902-82263658 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 82114907 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133337
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173287]
[ENSMUST00000173828]
|
AlphaFold |
G3UXC7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000173287
|
SMART Domains |
Protein: ENSMUSP00000133637 Gene: ENSMUSG00000070469
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 |
probably benign
Transcript: ENSMUST00000173828
|
SMART Domains |
Protein: ENSMUSP00000133337 Gene: ENSMUSG00000070469
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174495
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 91.4%
|
Validation Efficiency |
100% (91/91) |
Allele List at MGI |
All alleles(10) : Targeted(7) Gene trapped(2) Spontaneous(1)
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,773,986 (GRCm39) |
D1058E |
probably damaging |
Het |
4933405L10Rik |
A |
T |
8: 106,435,563 (GRCm39) |
|
probably null |
Het |
Afdn |
C |
T |
17: 14,072,698 (GRCm39) |
P874S |
probably damaging |
Het |
Ankrd6 |
G |
A |
4: 32,815,326 (GRCm39) |
A391V |
probably damaging |
Het |
Arhgef28 |
T |
G |
13: 98,067,762 (GRCm39) |
T1388P |
probably damaging |
Het |
Asxl3 |
G |
T |
18: 22,657,508 (GRCm39) |
M1839I |
probably benign |
Het |
BC005537 |
T |
C |
13: 24,989,923 (GRCm39) |
F129L |
probably damaging |
Het |
Celf2 |
A |
G |
2: 6,726,226 (GRCm39) |
|
probably null |
Het |
Chid1 |
C |
T |
7: 141,076,590 (GRCm39) |
V325I |
probably benign |
Het |
Cnn3 |
T |
A |
3: 121,243,633 (GRCm39) |
D31E |
probably benign |
Het |
Col12a1 |
G |
A |
9: 79,559,317 (GRCm39) |
P1857L |
probably damaging |
Het |
Cpeb1 |
T |
A |
7: 81,001,618 (GRCm39) |
R430W |
probably benign |
Het |
Daw1 |
T |
C |
1: 83,169,059 (GRCm39) |
|
probably benign |
Het |
Dcaf13 |
A |
G |
15: 39,001,484 (GRCm39) |
Y264C |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,064,585 (GRCm39) |
I2666V |
probably damaging |
Het |
Dnai2 |
A |
C |
11: 114,645,158 (GRCm39) |
D531A |
probably benign |
Het |
Dock10 |
A |
T |
1: 80,501,692 (GRCm39) |
F1833I |
probably damaging |
Het |
Efhd2 |
C |
T |
4: 141,587,183 (GRCm39) |
A200T |
probably damaging |
Het |
Epb41l5 |
T |
A |
1: 119,551,641 (GRCm39) |
|
probably benign |
Het |
Ermp1 |
A |
G |
19: 29,608,788 (GRCm39) |
Y164H |
possibly damaging |
Het |
Gkn2 |
T |
C |
6: 87,350,401 (GRCm39) |
|
probably benign |
Het |
Golgb1 |
A |
T |
16: 36,739,152 (GRCm39) |
Q2497L |
probably damaging |
Het |
Gzme |
A |
T |
14: 56,355,196 (GRCm39) |
M245K |
probably damaging |
Het |
Iars2 |
A |
T |
1: 185,054,585 (GRCm39) |
|
probably benign |
Het |
Icosl |
T |
A |
10: 77,909,775 (GRCm39) |
V240D |
probably damaging |
Het |
Igsf3 |
T |
C |
3: 101,334,709 (GRCm39) |
M262T |
probably benign |
Het |
Ing3 |
G |
T |
6: 21,971,236 (GRCm39) |
E336* |
probably null |
Het |
Kat2a |
A |
T |
11: 100,597,297 (GRCm39) |
V625E |
probably damaging |
Het |
Ksr1 |
A |
G |
11: 78,929,073 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
A |
T |
11: 58,277,583 (GRCm39) |
M122L |
probably benign |
Het |
Mdfi |
A |
T |
17: 48,143,855 (GRCm39) |
|
probably benign |
Het |
Med13 |
A |
G |
11: 86,192,179 (GRCm39) |
|
probably benign |
Het |
Msh6 |
C |
T |
17: 88,294,112 (GRCm39) |
R956C |
probably damaging |
Het |
Myo15b |
A |
G |
11: 115,774,664 (GRCm39) |
E670G |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,375,158 (GRCm39) |
L972P |
probably damaging |
Het |
Or4s2b |
A |
G |
2: 88,509,018 (GRCm39) |
D266G |
probably damaging |
Het |
Or51ai2 |
G |
A |
7: 103,587,024 (GRCm39) |
A146T |
probably benign |
Het |
Or7g12 |
T |
A |
9: 18,899,447 (GRCm39) |
N54K |
probably benign |
Het |
Pde8b |
C |
G |
13: 95,244,325 (GRCm39) |
S143T |
possibly damaging |
Het |
Pias4 |
G |
T |
10: 80,993,364 (GRCm39) |
|
probably benign |
Het |
Prkca |
A |
G |
11: 107,872,480 (GRCm39) |
Y427H |
probably benign |
Het |
Psg25 |
G |
A |
7: 18,263,485 (GRCm39) |
Q113* |
probably null |
Het |
Rab3gap2 |
T |
A |
1: 184,982,123 (GRCm39) |
S392T |
probably damaging |
Het |
Scrib |
A |
G |
15: 75,938,756 (GRCm39) |
|
probably benign |
Het |
Sdk2 |
A |
G |
11: 113,793,970 (GRCm39) |
|
probably benign |
Het |
Serpinb1c |
T |
A |
13: 33,070,266 (GRCm39) |
|
probably benign |
Het |
Serpinb9f |
T |
A |
13: 33,511,904 (GRCm39) |
W136R |
probably damaging |
Het |
Skic3 |
C |
T |
13: 76,331,010 (GRCm39) |
P1480L |
probably damaging |
Het |
Skint10 |
C |
A |
4: 112,573,102 (GRCm39) |
|
probably benign |
Het |
Slc25a13 |
T |
C |
6: 6,117,128 (GRCm39) |
T196A |
probably damaging |
Het |
Slc26a5 |
T |
C |
5: 22,052,230 (GRCm39) |
H33R |
probably damaging |
Het |
Slc27a6 |
T |
C |
18: 58,731,829 (GRCm39) |
|
probably benign |
Het |
Slitrk6 |
A |
T |
14: 110,987,251 (GRCm39) |
Y819N |
probably damaging |
Het |
Spata46 |
C |
T |
1: 170,139,603 (GRCm39) |
Q201* |
probably null |
Het |
Sptbn1 |
A |
T |
11: 30,064,739 (GRCm39) |
V1920E |
probably damaging |
Het |
Taf6l |
A |
G |
19: 8,755,881 (GRCm39) |
F256L |
probably benign |
Het |
Tmco3 |
T |
A |
8: 13,342,039 (GRCm39) |
N104K |
probably damaging |
Het |
Tmem200c |
A |
G |
17: 69,149,249 (GRCm39) |
T611A |
probably damaging |
Het |
Tmem202 |
T |
G |
9: 59,432,655 (GRCm39) |
Y24S |
probably damaging |
Het |
Tpp1 |
A |
G |
7: 105,398,626 (GRCm39) |
L230P |
probably damaging |
Het |
Trim56 |
C |
T |
5: 137,141,846 (GRCm39) |
E557K |
probably benign |
Het |
Trrap |
C |
T |
5: 144,790,309 (GRCm39) |
L3590F |
probably damaging |
Het |
Tulp4 |
A |
G |
17: 6,189,387 (GRCm39) |
T70A |
possibly damaging |
Het |
Vcp |
G |
C |
4: 42,986,201 (GRCm39) |
A297G |
probably benign |
Het |
Vwf |
T |
A |
6: 125,603,234 (GRCm39) |
H861Q |
probably benign |
Het |
Wdr64 |
T |
C |
1: 175,599,751 (GRCm39) |
I536T |
probably benign |
Het |
Zfp850 |
T |
C |
7: 27,689,698 (GRCm39) |
N170S |
probably benign |
Het |
Zfp87 |
G |
A |
13: 74,524,544 (GRCm39) |
|
probably benign |
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 |
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 |
|
R8930:Adamtsl3
|
UTSW |
7 |
82,261,069 (GRCm39) |
missense |
|
|
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'- ACGCTGAAATGTCCCATCAGTTCAC -3'
(R):5'- GACCAGCATTCCTGGTACACAGAG -3'
Sequencing Primer
(F):5'- ATGGTGTCCTCATGAAGACC -3'
(R):5'- GCATTCCTGGTACACAGAGTTTAC -3'
|
Posted On |
2013-07-30 |