Incidental Mutation 'R8125:Adamtsl3'
ID |
651975 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamtsl3
|
Ensembl Gene |
ENSMUSG00000070469 |
Gene Name |
ADAMTS-like 3 |
Synonyms |
9230119C12Rik, punctin-2 |
MMRRC Submission |
067554-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8125 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
81984902-82263658 bp(+) (GRCm39) |
Type of Mutation |
splice site (113035 bp from exon) |
DNA Base Change (assembly) |
A to G
at 82099541 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 null
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 97.0%
|
Validation Efficiency |
100% (72/72) |
Allele List at MGI |
All alleles(10) : Targeted(7) Gene trapped(2) Spontaneous(1)
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700062C07Rik |
C |
A |
18: 24,608,709 (GRCm39) |
T143K |
probably benign |
Het |
4933434E20Rik |
T |
A |
3: 89,972,818 (GRCm39) |
V74D |
possibly damaging |
Het |
Acot11 |
C |
T |
4: 106,617,277 (GRCm39) |
|
probably null |
Het |
Adam20 |
A |
T |
8: 41,247,973 (GRCm39) |
I28L |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
Ahnak |
C |
T |
19: 8,989,240 (GRCm39) |
A3508V |
possibly damaging |
Het |
Arhgap20 |
T |
C |
9: 51,738,209 (GRCm39) |
I235T |
probably damaging |
Het |
B4galnt3 |
T |
C |
6: 120,201,554 (GRCm39) |
T164A |
probably damaging |
Het |
Brip1 |
A |
G |
11: 86,077,817 (GRCm39) |
S204P |
possibly damaging |
Het |
Ccdc185 |
C |
A |
1: 182,574,835 (GRCm39) |
S618I |
probably benign |
Het |
Ckap5 |
T |
A |
2: 91,406,614 (GRCm39) |
I805K |
probably damaging |
Het |
Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
Cmtm2a |
A |
T |
8: 105,019,343 (GRCm39) |
I82N |
probably damaging |
Het |
Corin |
T |
A |
5: 72,515,806 (GRCm39) |
H416L |
probably damaging |
Het |
Csnk2a2 |
G |
A |
8: 96,182,575 (GRCm39) |
P296L |
|
Het |
Cygb |
T |
A |
11: 116,540,116 (GRCm39) |
T178S |
probably benign |
Het |
Dchs1 |
T |
C |
7: 105,414,089 (GRCm39) |
T909A |
possibly damaging |
Het |
Ddx60 |
C |
T |
8: 62,436,945 (GRCm39) |
A965V |
probably benign |
Het |
Dmbt1 |
A |
G |
7: 130,700,953 (GRCm39) |
T1218A |
unknown |
Het |
Ebf1 |
T |
C |
11: 44,863,742 (GRCm39) |
I364T |
probably damaging |
Het |
Efcab10 |
C |
A |
12: 33,448,313 (GRCm39) |
R49S |
probably damaging |
Het |
Eif2b1 |
G |
A |
5: 124,717,162 (GRCm39) |
|
probably benign |
Het |
Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
Gm49358 |
T |
A |
10: 86,656,857 (GRCm39) |
F273Y |
|
Het |
Gria2 |
T |
A |
3: 80,614,550 (GRCm39) |
I497F |
possibly damaging |
Het |
Ipo9 |
T |
C |
1: 135,331,078 (GRCm39) |
T426A |
probably benign |
Het |
Klhl11 |
T |
C |
11: 100,354,811 (GRCm39) |
I337V |
probably benign |
Het |
Krtap19-5 |
A |
T |
16: 88,693,236 (GRCm39) |
Y25* |
probably null |
Het |
Lamb2 |
T |
G |
9: 108,364,722 (GRCm39) |
S1159A |
probably benign |
Het |
Mpig6b |
A |
T |
17: 35,284,328 (GRCm39) |
L154Q |
probably damaging |
Het |
Mrpl28 |
T |
C |
17: 26,343,594 (GRCm39) |
I118T |
probably damaging |
Het |
Msh3 |
A |
T |
13: 92,435,690 (GRCm39) |
N536K |
probably benign |
Het |
Mtcl3 |
T |
C |
10: 29,072,894 (GRCm39) |
S729P |
probably damaging |
Het |
Myh8 |
A |
G |
11: 67,190,598 (GRCm39) |
K1308E |
possibly damaging |
Het |
Nav3 |
C |
A |
10: 109,688,520 (GRCm39) |
G586W |
probably damaging |
Het |
Ncoa7 |
T |
C |
10: 30,570,087 (GRCm39) |
K291E |
possibly damaging |
Het |
Nr5a1 |
C |
T |
2: 38,591,993 (GRCm39) |
V327I |
probably damaging |
Het |
Nup85 |
TACAAGACAA |
TACAA |
11: 115,469,063 (GRCm39) |
|
probably null |
Het |
Or1o4 |
A |
T |
17: 37,590,935 (GRCm39) |
H125Q |
probably benign |
Het |
Or4f4-ps1 |
A |
T |
2: 111,330,332 (GRCm39) |
D245V |
possibly damaging |
Het |
Or4g17 |
T |
C |
2: 111,210,086 (GRCm39) |
V247A |
probably damaging |
Het |
Pard3b |
T |
C |
1: 61,807,143 (GRCm39) |
Y53H |
probably damaging |
Het |
Pcyox1l |
G |
A |
18: 61,840,576 (GRCm39) |
P26L |
unknown |
Het |
Pdzrn4 |
A |
G |
15: 92,641,476 (GRCm39) |
S391G |
probably damaging |
Het |
Pfn4 |
T |
A |
12: 4,825,487 (GRCm39) |
M108K |
probably damaging |
Het |
Pibf1 |
C |
T |
14: 99,416,803 (GRCm39) |
Q459* |
probably null |
Het |
Pkd1l1 |
C |
T |
11: 8,897,241 (GRCm39) |
C556Y |
probably damaging |
Het |
Plin1 |
A |
G |
7: 79,379,599 (GRCm39) |
F84L |
possibly damaging |
Het |
Rasa3 |
A |
G |
8: 13,627,801 (GRCm39) |
|
probably null |
Het |
Sdc1 |
G |
A |
12: 8,840,663 (GRCm39) |
V143I |
probably benign |
Het |
Skic3 |
T |
C |
13: 76,278,446 (GRCm39) |
|
probably null |
Het |
Skor2 |
C |
A |
18: 76,947,373 (GRCm39) |
A365E |
unknown |
Het |
Slc16a7 |
A |
G |
10: 125,164,202 (GRCm39) |
|
probably null |
Het |
Slc25a31 |
T |
A |
3: 40,663,573 (GRCm39) |
V51E |
probably damaging |
Het |
Slc6a6 |
C |
A |
6: 91,703,087 (GRCm39) |
F153L |
probably damaging |
Het |
Snx7 |
T |
A |
3: 117,630,894 (GRCm39) |
K238M |
probably damaging |
Het |
Spata3 |
C |
T |
1: 85,952,075 (GRCm39) |
R110C |
unknown |
Het |
Spata31f3 |
A |
G |
4: 42,873,051 (GRCm39) |
L80P |
probably damaging |
Het |
Sphkap |
T |
G |
1: 83,241,303 (GRCm39) |
Q1587P |
probably damaging |
Het |
Tcte1 |
T |
C |
17: 45,850,618 (GRCm39) |
I298T |
possibly damaging |
Het |
Tmem247 |
A |
G |
17: 87,229,795 (GRCm39) |
Y120C |
|
Het |
Togaram2 |
C |
G |
17: 72,023,489 (GRCm39) |
L802V |
probably benign |
Het |
Trim32 |
T |
C |
4: 65,532,199 (GRCm39) |
V252A |
probably benign |
Het |
Ube2q2l |
T |
G |
6: 136,378,184 (GRCm39) |
R215S |
possibly damaging |
Het |
Vat1 |
T |
C |
11: 101,351,029 (GRCm39) |
K404R |
probably benign |
Het |
Xirp2 |
C |
A |
2: 67,342,379 (GRCm39) |
T1540K |
probably benign |
Het |
Zc2hc1c |
C |
T |
12: 85,343,386 (GRCm39) |
H508Y |
probably damaging |
Het |
Zfp407 |
A |
T |
18: 84,579,310 (GRCm39) |
M601K |
probably damaging |
Het |
Zfp951 |
A |
T |
5: 104,963,169 (GRCm39) |
Y132* |
probably null |
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 |
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'- CATGTGCACTCAAGTGTCACG -3'
(R):5'- TGGAGAGTTCCTGATCCCAG -3'
Sequencing Primer
(F):5'- ACTCAAGTGTCACGCTCGG -3'
(R):5'- TCCCAGGAAACTATTAAGAGTCG -3'
|
Posted On |
2020-09-16 |