Incidental Mutation 'IGL02146:Lmtk3'
ID |
281792 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lmtk3
|
Ensembl Gene |
ENSMUSG00000062044 |
Gene Name |
lemur tyrosine kinase 3 |
Synonyms |
AATYK3, Aatyk3 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.554)
|
Stock # |
IGL02146
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
45433162-45453568 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to A
at 45444371 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072580]
[ENSMUST00000120005]
[ENSMUST00000209617]
[ENSMUST00000209701]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000072580
AA Change: L992Q
|
SMART Domains |
Protein: ENSMUSP00000072388 Gene: ENSMUSG00000062044 AA Change: L992Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
133 |
408 |
8.3e-37 |
PFAM |
Pfam:Pkinase_Tyr
|
133 |
408 |
4.9e-64 |
PFAM |
low complexity region
|
415 |
444 |
N/A |
INTRINSIC |
low complexity region
|
484 |
506 |
N/A |
INTRINSIC |
low complexity region
|
599 |
609 |
N/A |
INTRINSIC |
low complexity region
|
639 |
669 |
N/A |
INTRINSIC |
low complexity region
|
735 |
791 |
N/A |
INTRINSIC |
low complexity region
|
797 |
843 |
N/A |
INTRINSIC |
low complexity region
|
1081 |
1105 |
N/A |
INTRINSIC |
low complexity region
|
1116 |
1132 |
N/A |
INTRINSIC |
low complexity region
|
1196 |
1223 |
N/A |
INTRINSIC |
low complexity region
|
1225 |
1263 |
N/A |
INTRINSIC |
low complexity region
|
1345 |
1362 |
N/A |
INTRINSIC |
low complexity region
|
1384 |
1393 |
N/A |
INTRINSIC |
low complexity region
|
1407 |
1421 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000118564
AA Change: L1018Q
|
SMART Domains |
Protein: ENSMUSP00000113323 Gene: ENSMUSG00000062044 AA Change: L1018Q
Domain | Start | End | E-Value | Type |
transmembrane domain
|
27 |
49 |
N/A |
INTRINSIC |
transmembrane domain
|
61 |
83 |
N/A |
INTRINSIC |
Pfam:Pkinase_Tyr
|
159 |
434 |
4.2e-64 |
PFAM |
Pfam:Pkinase
|
159 |
436 |
1.3e-33 |
PFAM |
low complexity region
|
441 |
470 |
N/A |
INTRINSIC |
low complexity region
|
510 |
532 |
N/A |
INTRINSIC |
low complexity region
|
625 |
635 |
N/A |
INTRINSIC |
low complexity region
|
665 |
695 |
N/A |
INTRINSIC |
low complexity region
|
761 |
817 |
N/A |
INTRINSIC |
low complexity region
|
823 |
869 |
N/A |
INTRINSIC |
low complexity region
|
1107 |
1131 |
N/A |
INTRINSIC |
low complexity region
|
1142 |
1158 |
N/A |
INTRINSIC |
low complexity region
|
1222 |
1249 |
N/A |
INTRINSIC |
low complexity region
|
1251 |
1289 |
N/A |
INTRINSIC |
low complexity region
|
1371 |
1388 |
N/A |
INTRINSIC |
low complexity region
|
1410 |
1419 |
N/A |
INTRINSIC |
low complexity region
|
1433 |
1447 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000120005
AA Change: L992Q
|
SMART Domains |
Protein: ENSMUSP00000112592 Gene: ENSMUSG00000062044 AA Change: L992Q
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
133 |
408 |
8.3e-37 |
PFAM |
Pfam:Pkinase_Tyr
|
133 |
408 |
4.9e-64 |
PFAM |
low complexity region
|
415 |
444 |
N/A |
INTRINSIC |
low complexity region
|
484 |
506 |
N/A |
INTRINSIC |
low complexity region
|
599 |
609 |
N/A |
INTRINSIC |
low complexity region
|
639 |
669 |
N/A |
INTRINSIC |
low complexity region
|
735 |
791 |
N/A |
INTRINSIC |
low complexity region
|
797 |
843 |
N/A |
INTRINSIC |
low complexity region
|
1081 |
1105 |
N/A |
INTRINSIC |
low complexity region
|
1116 |
1132 |
N/A |
INTRINSIC |
low complexity region
|
1196 |
1223 |
N/A |
INTRINSIC |
low complexity region
|
1225 |
1263 |
N/A |
INTRINSIC |
low complexity region
|
1345 |
1362 |
N/A |
INTRINSIC |
low complexity region
|
1384 |
1393 |
N/A |
INTRINSIC |
low complexity region
|
1407 |
1421 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209351
|
Predicted Effect |
unknown
Transcript: ENSMUST00000209617
AA Change: L1018Q
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209701
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211127
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit pronounced behavioral abnormalities, including locomotor hyperactivity, reduced anxiety, and decreased depression-like behavior, an increased striatal dopamine turnover rate, and enhanced behavioral response to methylphenidate. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
G |
9: 57,164,023 (GRCm39) |
C784R |
possibly damaging |
Het |
Akp3 |
A |
T |
1: 87,054,297 (GRCm39) |
D278V |
probably benign |
Het |
Atxn7l1 |
G |
T |
12: 33,418,030 (GRCm39) |
R730S |
probably benign |
Het |
Bag6 |
A |
G |
17: 35,355,191 (GRCm39) |
T30A |
probably damaging |
Het |
Blk |
G |
T |
14: 63,611,648 (GRCm39) |
P429H |
probably damaging |
Het |
Bmp2k |
T |
A |
5: 97,212,689 (GRCm39) |
M524K |
unknown |
Het |
Bst1 |
T |
A |
5: 43,983,678 (GRCm39) |
H221Q |
probably damaging |
Het |
Ces2g |
T |
C |
8: 105,693,576 (GRCm39) |
I419T |
possibly damaging |
Het |
Cnep1r1 |
T |
C |
8: 88,856,326 (GRCm39) |
V34A |
probably benign |
Het |
Ctnnbl1 |
A |
G |
2: 157,661,414 (GRCm39) |
E308G |
probably damaging |
Het |
Cyp20a1 |
A |
T |
1: 60,410,410 (GRCm39) |
K237I |
possibly damaging |
Het |
Dlg5 |
T |
C |
14: 24,252,429 (GRCm39) |
T104A |
probably damaging |
Het |
Dnaaf11 |
C |
T |
15: 66,361,374 (GRCm39) |
W42* |
probably null |
Het |
Dnaaf11 |
C |
A |
15: 66,361,375 (GRCm39) |
W42L |
probably benign |
Het |
Dnah9 |
C |
T |
11: 65,818,526 (GRCm39) |
V3271M |
probably damaging |
Het |
Eed |
T |
A |
7: 89,618,803 (GRCm39) |
N204Y |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 15,910,878 (GRCm39) |
V1708A |
probably benign |
Het |
Fcrl6 |
T |
C |
1: 172,426,264 (GRCm39) |
T178A |
probably benign |
Het |
Galnt4 |
A |
C |
10: 98,945,563 (GRCm39) |
K429N |
possibly damaging |
Het |
Ints6 |
T |
A |
14: 62,996,709 (GRCm39) |
T94S |
possibly damaging |
Het |
Iqsec3 |
A |
T |
6: 121,360,916 (GRCm39) |
S981T |
probably damaging |
Het |
Itga9 |
T |
A |
9: 118,663,400 (GRCm39) |
S146T |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,336,249 (GRCm39) |
Y2325C |
probably damaging |
Het |
Kng2 |
T |
A |
16: 22,806,582 (GRCm39) |
Q539L |
probably damaging |
Het |
Map1a |
T |
C |
2: 121,129,927 (GRCm39) |
Y248H |
probably damaging |
Het |
Mroh1 |
A |
G |
15: 76,318,879 (GRCm39) |
|
probably benign |
Het |
Mroh2b |
T |
C |
15: 4,980,776 (GRCm39) |
|
probably null |
Het |
Myo18b |
A |
T |
5: 112,991,151 (GRCm39) |
M942K |
probably damaging |
Het |
Myzap |
T |
A |
9: 71,471,730 (GRCm39) |
T94S |
probably benign |
Het |
Nebl |
C |
A |
2: 17,353,679 (GRCm39) |
R957S |
probably damaging |
Het |
Nexn |
A |
T |
3: 151,952,885 (GRCm39) |
D278E |
probably benign |
Het |
Nlgn1 |
A |
T |
3: 25,966,846 (GRCm39) |
N222K |
probably damaging |
Het |
Or6c76 |
T |
A |
10: 129,612,727 (GRCm39) |
|
probably benign |
Het |
Or8d1 |
G |
A |
9: 38,766,654 (GRCm39) |
A99T |
probably benign |
Het |
Osbpl6 |
A |
T |
2: 76,380,094 (GRCm39) |
R79S |
possibly damaging |
Het |
Phip |
T |
C |
9: 82,763,771 (GRCm39) |
I1268M |
probably benign |
Het |
Pkd2 |
G |
T |
5: 104,637,157 (GRCm39) |
R590L |
probably damaging |
Het |
Reg2 |
G |
A |
6: 78,382,568 (GRCm39) |
|
probably benign |
Het |
Scaf1 |
A |
T |
7: 44,662,934 (GRCm39) |
D26E |
probably damaging |
Het |
Ska1 |
A |
G |
18: 74,329,981 (GRCm39) |
I253T |
possibly damaging |
Het |
Slc11a2 |
T |
C |
15: 100,299,169 (GRCm39) |
N443D |
probably damaging |
Het |
Slc6a12 |
A |
T |
6: 121,330,460 (GRCm39) |
T155S |
probably benign |
Het |
Slit3 |
A |
G |
11: 35,125,675 (GRCm39) |
K118R |
possibly damaging |
Het |
Snap23 |
T |
G |
2: 120,429,792 (GRCm39) |
N212K |
probably damaging |
Het |
Snx13 |
T |
A |
12: 35,151,078 (GRCm39) |
D346E |
probably benign |
Het |
Sumf1 |
C |
A |
6: 108,150,392 (GRCm39) |
|
probably null |
Het |
Susd2 |
T |
C |
10: 75,474,267 (GRCm39) |
N479S |
possibly damaging |
Het |
Tiam1 |
A |
G |
16: 89,646,569 (GRCm39) |
I821T |
probably benign |
Het |
Tll2 |
C |
A |
19: 41,086,276 (GRCm39) |
V651L |
probably benign |
Het |
Vmn2r1 |
A |
G |
3: 64,012,104 (GRCm39) |
D655G |
probably benign |
Het |
Vmn2r72 |
T |
C |
7: 85,387,170 (GRCm39) |
Y798C |
probably damaging |
Het |
Vps13b |
A |
C |
15: 35,646,479 (GRCm39) |
I1528L |
probably benign |
Het |
Wdtc1 |
G |
A |
4: 133,029,076 (GRCm39) |
L337F |
probably benign |
Het |
Zfp128 |
A |
C |
7: 12,623,959 (GRCm39) |
K109T |
possibly damaging |
Het |
|
Other mutations in Lmtk3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01365:Lmtk3
|
APN |
7 |
45,440,331 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01996:Lmtk3
|
APN |
7 |
45,442,871 (GRCm39) |
splice site |
probably null |
|
IGL02192:Lmtk3
|
APN |
7 |
45,443,933 (GRCm39) |
unclassified |
probably benign |
|
IGL02598:Lmtk3
|
APN |
7 |
45,442,564 (GRCm39) |
missense |
probably damaging |
1.00 |
BB006:Lmtk3
|
UTSW |
7 |
45,444,572 (GRCm39) |
missense |
unknown |
|
BB016:Lmtk3
|
UTSW |
7 |
45,444,572 (GRCm39) |
missense |
unknown |
|
R0469:Lmtk3
|
UTSW |
7 |
45,443,536 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0510:Lmtk3
|
UTSW |
7 |
45,443,536 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0603:Lmtk3
|
UTSW |
7 |
45,444,980 (GRCm39) |
unclassified |
probably benign |
|
R0781:Lmtk3
|
UTSW |
7 |
45,444,427 (GRCm39) |
unclassified |
probably benign |
|
R1110:Lmtk3
|
UTSW |
7 |
45,444,427 (GRCm39) |
unclassified |
probably benign |
|
R1270:Lmtk3
|
UTSW |
7 |
45,443,252 (GRCm39) |
missense |
probably damaging |
0.96 |
R1535:Lmtk3
|
UTSW |
7 |
45,443,994 (GRCm39) |
unclassified |
probably benign |
|
R1666:Lmtk3
|
UTSW |
7 |
45,443,588 (GRCm39) |
missense |
probably benign |
0.03 |
R1807:Lmtk3
|
UTSW |
7 |
45,442,702 (GRCm39) |
missense |
probably benign |
0.02 |
R1883:Lmtk3
|
UTSW |
7 |
45,436,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R2060:Lmtk3
|
UTSW |
7 |
45,450,335 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2107:Lmtk3
|
UTSW |
7 |
45,443,393 (GRCm39) |
missense |
possibly damaging |
0.56 |
R2214:Lmtk3
|
UTSW |
7 |
45,444,277 (GRCm39) |
unclassified |
probably benign |
|
R2369:Lmtk3
|
UTSW |
7 |
45,444,512 (GRCm39) |
unclassified |
probably benign |
|
R4084:Lmtk3
|
UTSW |
7 |
45,442,716 (GRCm39) |
missense |
probably damaging |
0.97 |
R4246:Lmtk3
|
UTSW |
7 |
45,443,486 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4247:Lmtk3
|
UTSW |
7 |
45,443,486 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4249:Lmtk3
|
UTSW |
7 |
45,443,486 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4250:Lmtk3
|
UTSW |
7 |
45,443,486 (GRCm39) |
missense |
possibly damaging |
0.75 |
R4587:Lmtk3
|
UTSW |
7 |
45,443,504 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5026:Lmtk3
|
UTSW |
7 |
45,443,836 (GRCm39) |
unclassified |
probably benign |
|
R5275:Lmtk3
|
UTSW |
7 |
45,440,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R5295:Lmtk3
|
UTSW |
7 |
45,440,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R5624:Lmtk3
|
UTSW |
7 |
45,436,286 (GRCm39) |
missense |
probably damaging |
0.96 |
R5688:Lmtk3
|
UTSW |
7 |
45,440,834 (GRCm39) |
missense |
probably damaging |
1.00 |
R6478:Lmtk3
|
UTSW |
7 |
45,448,013 (GRCm39) |
missense |
unknown |
|
R6737:Lmtk3
|
UTSW |
7 |
45,443,051 (GRCm39) |
missense |
probably damaging |
0.99 |
R6800:Lmtk3
|
UTSW |
7 |
45,443,233 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6856:Lmtk3
|
UTSW |
7 |
45,443,721 (GRCm39) |
unclassified |
probably benign |
|
R7319:Lmtk3
|
UTSW |
7 |
45,443,740 (GRCm39) |
missense |
unknown |
|
R7335:Lmtk3
|
UTSW |
7 |
45,444,581 (GRCm39) |
missense |
unknown |
|
R7353:Lmtk3
|
UTSW |
7 |
45,437,424 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7621:Lmtk3
|
UTSW |
7 |
45,442,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R7699:Lmtk3
|
UTSW |
7 |
45,441,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R7700:Lmtk3
|
UTSW |
7 |
45,441,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R7836:Lmtk3
|
UTSW |
7 |
45,436,327 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7929:Lmtk3
|
UTSW |
7 |
45,444,572 (GRCm39) |
missense |
unknown |
|
R7951:Lmtk3
|
UTSW |
7 |
45,435,030 (GRCm39) |
missense |
probably benign |
0.01 |
R7976:Lmtk3
|
UTSW |
7 |
45,444,890 (GRCm39) |
missense |
unknown |
|
R8128:Lmtk3
|
UTSW |
7 |
45,443,598 (GRCm39) |
missense |
|
|
R8678:Lmtk3
|
UTSW |
7 |
45,435,975 (GRCm39) |
nonsense |
probably null |
|
R8732:Lmtk3
|
UTSW |
7 |
45,447,712 (GRCm39) |
missense |
unknown |
|
R9335:Lmtk3
|
UTSW |
7 |
45,442,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R9356:Lmtk3
|
UTSW |
7 |
45,443,312 (GRCm39) |
missense |
probably damaging |
0.96 |
R9432:Lmtk3
|
UTSW |
7 |
45,441,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R9645:Lmtk3
|
UTSW |
7 |
45,450,431 (GRCm39) |
missense |
unknown |
|
X0052:Lmtk3
|
UTSW |
7 |
45,442,922 (GRCm39) |
missense |
probably benign |
0.03 |
X0067:Lmtk3
|
UTSW |
7 |
45,444,104 (GRCm39) |
unclassified |
probably benign |
|
|
Posted On |
2015-04-16 |