Incidental Mutation 'R3821:Adamtsl3'
ID |
274918 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamtsl3
|
Ensembl Gene |
ENSMUSG00000070469 |
Gene Name |
ADAMTS-like 3 |
Synonyms |
9230119C12Rik, punctin-2 |
MMRRC Submission |
040883-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3821 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
81984902-82263658 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 82255687 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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (67/67) |
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 |
Aarsd1 |
T |
A |
11: 101,301,971 (GRCm39) |
I332F |
probably damaging |
Het |
Abcd2 |
C |
T |
15: 91,058,908 (GRCm39) |
G512D |
probably damaging |
Het |
Acp3 |
G |
T |
9: 104,201,916 (GRCm39) |
Q76K |
probably damaging |
Het |
Alox8 |
T |
A |
11: 69,077,308 (GRCm39) |
I481F |
probably damaging |
Het |
Anp32e |
A |
T |
3: 95,842,181 (GRCm39) |
I100L |
probably benign |
Het |
Arpin |
G |
A |
7: 79,579,408 (GRCm39) |
R72C |
probably damaging |
Het |
C6 |
A |
G |
15: 4,819,066 (GRCm39) |
E466G |
probably benign |
Het |
Ccdc13 |
C |
A |
9: 121,660,085 (GRCm39) |
L76F |
probably damaging |
Het |
Cd44 |
T |
C |
2: 102,731,738 (GRCm39) |
|
probably null |
Het |
Clgn |
A |
G |
8: 84,147,106 (GRCm39) |
I353V |
probably null |
Het |
Cnot6 |
A |
T |
11: 49,579,999 (GRCm39) |
S98T |
probably benign |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Cramp1 |
G |
A |
17: 25,193,756 (GRCm39) |
T908I |
probably damaging |
Het |
Dnah9 |
C |
A |
11: 65,741,829 (GRCm39) |
|
probably null |
Het |
Ehd3 |
A |
T |
17: 74,134,390 (GRCm39) |
I250F |
probably benign |
Het |
Eml2 |
T |
C |
7: 18,936,911 (GRCm39) |
V555A |
possibly damaging |
Het |
Erbb4 |
A |
G |
1: 68,345,072 (GRCm39) |
S550P |
probably damaging |
Het |
Fchsd1 |
A |
G |
18: 38,102,510 (GRCm39) |
|
probably benign |
Het |
Flad1 |
T |
A |
3: 89,318,494 (GRCm39) |
I20F |
probably damaging |
Het |
Frem2 |
A |
T |
3: 53,559,836 (GRCm39) |
L1557Q |
probably damaging |
Het |
Gbf1 |
T |
C |
19: 46,253,246 (GRCm39) |
I506T |
probably damaging |
Het |
Gm20730 |
C |
T |
6: 43,058,656 (GRCm39) |
S52N |
probably benign |
Het |
Hoxc9 |
A |
G |
15: 102,890,596 (GRCm39) |
K171R |
probably benign |
Het |
Hscb |
A |
T |
5: 110,984,194 (GRCm39) |
D52E |
probably damaging |
Het |
Htr1b |
A |
T |
9: 81,514,487 (GRCm39) |
I40N |
probably benign |
Het |
Ido2 |
T |
C |
8: 25,023,771 (GRCm39) |
I356V |
probably benign |
Het |
Insyn2b |
T |
C |
11: 34,353,007 (GRCm39) |
S350P |
probably benign |
Het |
Irs1 |
T |
C |
1: 82,267,770 (GRCm39) |
T149A |
probably benign |
Het |
Itgam |
A |
G |
7: 127,711,458 (GRCm39) |
|
probably null |
Het |
Itpr2 |
A |
T |
6: 146,319,224 (GRCm39) |
H244Q |
probably damaging |
Het |
Kcnma1 |
A |
G |
14: 23,417,679 (GRCm39) |
I846T |
probably damaging |
Het |
Kdm3a |
A |
T |
6: 71,588,661 (GRCm39) |
D449E |
probably benign |
Het |
Lama1 |
C |
A |
17: 68,086,041 (GRCm39) |
|
probably null |
Het |
Lhfpl4 |
A |
G |
6: 113,171,069 (GRCm39) |
V39A |
probably benign |
Het |
Marf1 |
A |
T |
16: 13,960,418 (GRCm39) |
L542Q |
probably damaging |
Het |
Mns1 |
A |
G |
9: 72,346,730 (GRCm39) |
E71G |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mrpl19 |
C |
A |
6: 81,938,987 (GRCm39) |
E272* |
probably null |
Het |
Ncoa6 |
T |
A |
2: 155,248,858 (GRCm39) |
N1482I |
probably damaging |
Het |
Neto2 |
C |
A |
8: 86,389,924 (GRCm39) |
E180* |
probably null |
Het |
Or2a51 |
A |
G |
6: 43,178,604 (GRCm39) |
T9A |
probably benign |
Het |
Pcdhga10 |
A |
G |
18: 37,880,995 (GRCm39) |
N252S |
probably damaging |
Het |
Pcdhgb7 |
C |
A |
18: 37,885,286 (GRCm39) |
T152K |
possibly damaging |
Het |
Ptprb |
G |
T |
10: 116,185,979 (GRCm39) |
R1678L |
probably benign |
Het |
Ptprg |
A |
T |
14: 12,226,375 (GRCm38) |
I1323L |
probably benign |
Het |
Rab40b |
T |
A |
11: 121,248,874 (GRCm39) |
N127I |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,467,699 (GRCm39) |
C814R |
probably benign |
Het |
Sdhb |
C |
T |
4: 140,706,399 (GRCm39) |
R279* |
probably null |
Het |
Shroom4 |
C |
T |
X: 6,536,276 (GRCm39) |
Q1165* |
probably null |
Het |
Slc17a4 |
C |
T |
13: 24,085,752 (GRCm39) |
R387H |
probably benign |
Het |
Slc20a2 |
A |
G |
8: 23,028,918 (GRCm39) |
I130V |
probably benign |
Het |
Slitrk3 |
T |
C |
3: 72,956,549 (GRCm39) |
Y741C |
possibly damaging |
Het |
Tas1r1 |
G |
T |
4: 152,119,138 (GRCm39) |
L144I |
probably benign |
Het |
Tenm2 |
A |
T |
11: 35,915,147 (GRCm39) |
I2129N |
probably damaging |
Het |
Tmbim1 |
A |
G |
1: 74,333,089 (GRCm39) |
V92A |
probably damaging |
Het |
Tmem131 |
T |
A |
1: 36,847,477 (GRCm39) |
H1207L |
probably damaging |
Het |
Tmem209 |
G |
T |
6: 30,505,959 (GRCm39) |
P116T |
probably damaging |
Het |
Tmem8b |
C |
A |
4: 43,689,745 (GRCm39) |
H800N |
probably damaging |
Het |
Tnfsf8 |
A |
G |
4: 63,779,127 (GRCm39) |
V57A |
probably benign |
Het |
Topaz1 |
A |
G |
9: 122,626,848 (GRCm39) |
D1492G |
possibly damaging |
Het |
Trank1 |
G |
A |
9: 111,207,887 (GRCm39) |
G1711R |
probably damaging |
Het |
Trpc6 |
A |
T |
9: 8,610,279 (GRCm39) |
D249V |
probably damaging |
Het |
Ubr3 |
G |
A |
2: 69,824,157 (GRCm39) |
|
probably null |
Het |
Ufc1 |
A |
G |
1: 171,117,172 (GRCm39) |
|
probably benign |
Het |
Unc5cl |
T |
C |
17: 48,767,001 (GRCm39) |
L125P |
possibly damaging |
Het |
Usb1 |
G |
A |
8: 96,060,061 (GRCm39) |
S57N |
probably benign |
Het |
Wdfy1 |
A |
G |
1: 79,684,017 (GRCm39) |
S373P |
probably benign |
Het |
Zfp618 |
G |
A |
4: 63,051,801 (GRCm39) |
A861T |
probably benign |
Het |
Zfp831 |
T |
C |
2: 174,485,816 (GRCm39) |
S164P |
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 |
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'- ACCTCCACCTTTGCTCAGAG -3'
(R):5'- TCAGGCAGTTTTGTCCCCTG -3'
Sequencing Primer
(F):5'- GCCTAATAATTCAGAGTTGATCCCAC -3'
(R):5'- CAGTTTTGTCCCCTGGAGGTTC -3'
|
Posted On |
2015-04-02 |