Incidental Mutation 'R0295:Adamtsl3'
ID |
37683 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adamtsl3
|
Ensembl Gene |
ENSMUSG00000070469 |
Gene Name |
ADAMTS-like 3 |
Synonyms |
9230119C12Rik, punctin-2 |
MMRRC Submission |
038512-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0295 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
81984902-82263658 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 82197213 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133637
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173287]
[ENSMUST00000173828]
|
AlphaFold |
G3UXC7 |
Predicted Effect |
probably null
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 |
0.9491 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.9%
|
Validation Efficiency |
100% (70/70) |
Allele List at MGI |
All alleles(10) : Targeted(7) Gene trapped(2) Spontaneous(1)
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
G |
A |
10: 76,290,642 (GRCm39) |
S127N |
probably damaging |
Het |
Abcc8 |
T |
C |
7: 45,767,478 (GRCm39) |
R953G |
probably benign |
Het |
Adh4 |
A |
G |
3: 138,134,837 (GRCm39) |
D337G |
probably damaging |
Het |
Apob |
T |
A |
12: 8,052,181 (GRCm39) |
Y1207* |
probably null |
Het |
Birc6 |
T |
C |
17: 74,920,357 (GRCm39) |
|
probably benign |
Het |
Bms1 |
A |
G |
6: 118,366,298 (GRCm39) |
I1065T |
probably benign |
Het |
Cacna1i |
T |
A |
15: 80,240,412 (GRCm39) |
L378Q |
probably damaging |
Het |
Ccdc127 |
C |
A |
13: 74,504,989 (GRCm39) |
P179H |
probably damaging |
Het |
Ccdc18 |
A |
T |
5: 108,321,655 (GRCm39) |
K586N |
probably damaging |
Het |
Cep290 |
A |
C |
10: 100,373,683 (GRCm39) |
E1321A |
probably damaging |
Het |
Cstpp1 |
A |
T |
2: 91,112,939 (GRCm39) |
I173N |
probably damaging |
Het |
Ctc1 |
A |
G |
11: 68,921,414 (GRCm39) |
K682E |
possibly damaging |
Het |
Cux1 |
A |
C |
5: 136,342,066 (GRCm39) |
V442G |
probably benign |
Het |
Dph2 |
A |
T |
4: 117,748,127 (GRCm39) |
V150E |
possibly damaging |
Het |
Etv6 |
A |
G |
6: 134,243,238 (GRCm39) |
D331G |
probably benign |
Het |
Fbxo42 |
A |
G |
4: 140,927,808 (GRCm39) |
D696G |
probably damaging |
Het |
Fbxo8 |
G |
A |
8: 57,043,109 (GRCm39) |
D198N |
probably benign |
Het |
Gria4 |
T |
C |
9: 4,793,840 (GRCm39) |
T73A |
possibly damaging |
Het |
H2aj |
C |
G |
6: 136,785,602 (GRCm39) |
R89G |
probably damaging |
Het |
Ifng |
G |
T |
10: 118,277,154 (GRCm39) |
S32I |
possibly damaging |
Het |
Ildr1 |
A |
G |
16: 36,529,839 (GRCm39) |
|
probably null |
Het |
Knl1 |
A |
C |
2: 118,919,320 (GRCm39) |
D1824A |
probably damaging |
Het |
Lamp3 |
A |
T |
16: 19,519,858 (GRCm39) |
Y108* |
probably null |
Het |
Lcp1 |
A |
G |
14: 75,436,860 (GRCm39) |
I69V |
probably null |
Het |
Lrp6 |
A |
T |
6: 134,434,656 (GRCm39) |
V1349E |
probably benign |
Het |
Lrrcc1 |
A |
T |
3: 14,630,909 (GRCm39) |
E1009D |
probably benign |
Het |
Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
Med14 |
G |
C |
X: 12,551,987 (GRCm39) |
R1223G |
probably damaging |
Het |
Mesd |
C |
T |
7: 83,547,073 (GRCm39) |
Q179* |
probably null |
Het |
Myh7 |
A |
G |
14: 55,222,278 (GRCm39) |
|
probably benign |
Het |
Myo6 |
T |
C |
9: 80,190,861 (GRCm39) |
I804T |
probably damaging |
Het |
Neb |
T |
C |
2: 52,174,297 (GRCm39) |
I1521V |
possibly damaging |
Het |
Nosip |
T |
A |
7: 44,726,340 (GRCm39) |
I249N |
probably damaging |
Het |
Nostrin |
A |
C |
2: 69,009,760 (GRCm39) |
E296A |
probably benign |
Het |
Oprk1 |
T |
C |
1: 5,669,073 (GRCm39) |
L173S |
possibly damaging |
Het |
Or2n1d |
A |
T |
17: 38,646,182 (GRCm39) |
I45F |
probably damaging |
Het |
Or4k36 |
T |
A |
2: 111,146,499 (GRCm39) |
V225D |
probably damaging |
Het |
Or51v8 |
T |
C |
7: 103,319,518 (GRCm39) |
H240R |
probably damaging |
Het |
Or5p1 |
T |
G |
7: 107,916,892 (GRCm39) |
S264A |
probably benign |
Het |
Pdzd7 |
A |
G |
19: 45,025,511 (GRCm39) |
V328A |
probably benign |
Het |
Podxl2 |
A |
T |
6: 88,826,660 (GRCm39) |
S215R |
probably benign |
Het |
Prss36 |
T |
G |
7: 127,535,027 (GRCm39) |
T418P |
possibly damaging |
Het |
Ralgps2 |
T |
A |
1: 156,651,555 (GRCm39) |
|
probably benign |
Het |
Rasa2 |
T |
C |
9: 96,427,863 (GRCm39) |
|
probably null |
Het |
Rgs1 |
A |
T |
1: 144,121,224 (GRCm39) |
I149N |
probably damaging |
Het |
Rgs16 |
A |
G |
1: 153,619,483 (GRCm39) |
E163G |
probably damaging |
Het |
Rnf121 |
A |
G |
7: 101,684,553 (GRCm39) |
F120S |
possibly damaging |
Het |
Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
Slfn8 |
A |
T |
11: 82,894,169 (GRCm39) |
Y823* |
probably null |
Het |
Spdl1 |
A |
T |
11: 34,704,170 (GRCm39) |
N554K |
possibly damaging |
Het |
St6gal1 |
T |
A |
16: 23,174,953 (GRCm39) |
|
probably benign |
Het |
Tet3 |
G |
A |
6: 83,346,121 (GRCm39) |
P1304S |
probably benign |
Het |
Timm29 |
T |
C |
9: 21,504,372 (GRCm39) |
|
probably null |
Het |
Tpcn1 |
T |
A |
5: 120,677,125 (GRCm39) |
I687F |
probably damaging |
Het |
Trim46 |
A |
G |
3: 89,152,420 (GRCm39) |
|
probably benign |
Het |
Ttc23 |
T |
A |
7: 67,319,600 (GRCm39) |
|
probably benign |
Het |
Ttll6 |
G |
T |
11: 96,045,540 (GRCm39) |
V586L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,588,955 (GRCm39) |
|
probably benign |
Het |
Uba3 |
A |
T |
6: 97,168,544 (GRCm39) |
H160Q |
possibly damaging |
Het |
Usp32 |
A |
G |
11: 84,944,518 (GRCm39) |
S316P |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,860,310 (GRCm39) |
I352M |
probably benign |
Het |
Zcwpw1 |
G |
T |
5: 137,815,734 (GRCm39) |
L412F |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,806,281 (GRCm39) |
N2254K |
probably damaging |
Het |
Zscan4e |
A |
G |
7: 11,041,543 (GRCm39) |
S138P |
probably 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 |
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 |
|
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'- AATGTGCTGGTGATGTAAAGACCCC -3'
(R):5'- TGCCCAGTTTAGTTGCCCTTGAATG -3'
Sequencing Primer
(F):5'- TGGTGATGTAAAGACCCCAGATTC -3'
(R):5'- AGTTGCCCTTGAATGGACCC -3'
|
Posted On |
2013-05-23 |