Incidental Mutation 'IGL02192:Lmtk3'
ID |
283935 |
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 non essential
(E-score: 0.491)
|
Stock # |
IGL02192
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
45433162-45453568 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 45443933 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: E846G
|
SMART Domains |
Protein: ENSMUSP00000072388 Gene: ENSMUSG00000062044 AA Change: E846G
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: E872G
|
SMART Domains |
Protein: ENSMUSP00000113323 Gene: ENSMUSG00000062044 AA Change: E872G
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: E846G
|
SMART Domains |
Protein: ENSMUSP00000112592 Gene: ENSMUSG00000062044 AA Change: E846G
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: E872G
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
A |
T |
7: 28,597,825 (GRCm39) |
M545K |
possibly damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,146,253 (GRCm39) |
E303G |
probably damaging |
Het |
Anxa13 |
A |
T |
15: 58,220,628 (GRCm39) |
|
noncoding transcript |
Het |
Ap2b1 |
C |
T |
11: 83,237,592 (GRCm39) |
T552I |
possibly damaging |
Het |
Cars1 |
T |
C |
7: 143,125,325 (GRCm39) |
S388G |
probably damaging |
Het |
Cdh18 |
A |
T |
15: 23,460,402 (GRCm39) |
D544V |
probably damaging |
Het |
Chat |
T |
C |
14: 32,145,279 (GRCm39) |
R377G |
possibly damaging |
Het |
Col14a1 |
A |
G |
15: 55,225,798 (GRCm39) |
T154A |
unknown |
Het |
Col9a1 |
C |
T |
1: 24,261,068 (GRCm39) |
P311S |
probably damaging |
Het |
Cpsf3 |
G |
T |
12: 21,360,194 (GRCm39) |
|
probably benign |
Het |
Cpsf3 |
G |
T |
12: 21,360,197 (GRCm39) |
|
probably null |
Het |
Dock8 |
T |
C |
19: 25,055,569 (GRCm39) |
|
probably null |
Het |
Eml6 |
A |
G |
11: 29,755,743 (GRCm39) |
I837T |
probably benign |
Het |
Epb41 |
T |
C |
4: 131,657,028 (GRCm39) |
T792A |
probably damaging |
Het |
Exph5 |
A |
T |
9: 53,287,625 (GRCm39) |
R1569* |
probably null |
Het |
F13b |
A |
T |
1: 139,445,071 (GRCm39) |
T574S |
probably damaging |
Het |
Fam184b |
G |
T |
5: 45,695,062 (GRCm39) |
D727E |
probably benign |
Het |
Fhip1a |
A |
G |
3: 85,580,633 (GRCm39) |
L524P |
possibly damaging |
Het |
Fhod3 |
T |
C |
18: 25,189,415 (GRCm39) |
L619P |
probably damaging |
Het |
Fsd1l |
A |
G |
4: 53,647,754 (GRCm39) |
I66V |
probably benign |
Het |
Fv1 |
A |
G |
4: 147,954,712 (GRCm39) |
D426G |
possibly damaging |
Het |
Gm3371 |
A |
T |
14: 44,641,235 (GRCm39) |
|
probably benign |
Het |
Hnf1a |
A |
T |
5: 115,098,177 (GRCm39) |
S142T |
probably damaging |
Het |
Itgb3 |
A |
G |
11: 104,534,765 (GRCm39) |
I541V |
probably benign |
Het |
Itgbl1 |
G |
T |
14: 124,081,338 (GRCm39) |
C239F |
probably damaging |
Het |
Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
Larp1b |
G |
T |
3: 40,921,929 (GRCm39) |
S116I |
probably benign |
Het |
Mapk10 |
T |
C |
5: 103,137,513 (GRCm39) |
I235V |
probably damaging |
Het |
Mctp1 |
C |
T |
13: 76,879,887 (GRCm39) |
|
probably benign |
Het |
Megf8 |
G |
A |
7: 25,053,285 (GRCm39) |
D1819N |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,217,717 (GRCm39) |
T2254A |
possibly damaging |
Het |
Nbr1 |
T |
A |
11: 101,460,417 (GRCm39) |
S444T |
probably damaging |
Het |
Ncor2 |
A |
T |
5: 125,101,301 (GRCm39) |
D1956E |
probably damaging |
Het |
Ndufaf5 |
T |
C |
2: 140,030,663 (GRCm39) |
V183A |
probably benign |
Het |
Nfasc |
G |
A |
1: 132,498,219 (GRCm39) |
T1155M |
probably damaging |
Het |
Nol12 |
A |
G |
15: 78,821,374 (GRCm39) |
E78G |
probably damaging |
Het |
Npy5r |
T |
A |
8: 67,133,998 (GRCm39) |
H265L |
probably benign |
Het |
Or10j2 |
T |
A |
1: 173,098,417 (GRCm39) |
L225H |
probably damaging |
Het |
Or8k16 |
G |
A |
2: 85,520,472 (GRCm39) |
G233D |
possibly damaging |
Het |
Pop1 |
A |
G |
15: 34,529,217 (GRCm39) |
E749G |
probably benign |
Het |
Ppil3 |
T |
C |
1: 58,477,547 (GRCm39) |
I66V |
probably damaging |
Het |
Prl4a1 |
C |
A |
13: 28,202,554 (GRCm39) |
T43K |
possibly damaging |
Het |
Prop1 |
A |
G |
11: 50,844,113 (GRCm39) |
|
probably benign |
Het |
Qrsl1 |
A |
T |
10: 43,761,010 (GRCm39) |
I218N |
probably damaging |
Het |
Rbm22 |
T |
A |
18: 60,697,484 (GRCm39) |
M63K |
possibly damaging |
Het |
Rictor |
T |
C |
15: 6,815,895 (GRCm39) |
S1056P |
probably benign |
Het |
Rps6kb2 |
T |
C |
19: 4,207,587 (GRCm39) |
T388A |
probably damaging |
Het |
Slc7a5 |
A |
G |
8: 122,613,129 (GRCm39) |
|
probably benign |
Het |
Sp100 |
A |
T |
1: 85,635,722 (GRCm39) |
D509V |
probably damaging |
Het |
Spata18 |
G |
T |
5: 73,829,861 (GRCm39) |
|
probably null |
Het |
Sspo |
C |
A |
6: 48,436,502 (GRCm39) |
T1254K |
possibly damaging |
Het |
Stk19 |
A |
G |
17: 35,051,134 (GRCm39) |
|
probably benign |
Het |
Taar8b |
T |
A |
10: 23,967,262 (GRCm39) |
I311F |
probably damaging |
Het |
Themis2 |
C |
A |
4: 132,510,658 (GRCm39) |
|
probably null |
Het |
Tll2 |
T |
C |
19: 41,074,702 (GRCm39) |
Y937C |
possibly damaging |
Het |
Trim34a |
T |
A |
7: 103,896,939 (GRCm39) |
M1K |
probably null |
Het |
Usp50 |
G |
A |
2: 126,619,958 (GRCm39) |
T118I |
possibly damaging |
Het |
Vps13d |
G |
A |
4: 144,875,428 (GRCm39) |
S1693F |
probably benign |
Het |
Vps16 |
T |
A |
2: 130,282,852 (GRCm39) |
I467N |
probably damaging |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
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 |
|
IGL02146:Lmtk3
|
APN |
7 |
45,444,371 (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 |