Incidental Mutation 'R0603:Lmtk3'
ID |
55549 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lmtk3
|
Ensembl Gene |
ENSMUSG00000062044 |
Gene Name |
lemur tyrosine kinase 3 |
Synonyms |
AATYK3, Aatyk3 |
MMRRC Submission |
038792-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.554)
|
Stock # |
R0603 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
45433162-45453568 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to A
at 45444980 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: I1195N
|
SMART Domains |
Protein: ENSMUSP00000072388 Gene: ENSMUSG00000062044 AA Change: I1195N
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: I1221N
|
SMART Domains |
Protein: ENSMUSP00000113323 Gene: ENSMUSG00000062044 AA Change: I1221N
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: I1195N
|
SMART Domains |
Protein: ENSMUSP00000112592 Gene: ENSMUSG00000062044 AA Change: I1195N
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: I1221N
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209701
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211127
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.3%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc7 |
A |
G |
5: 122,578,233 (GRCm39) |
N406S |
probably benign |
Het |
Arhgap4 |
C |
T |
X: 72,950,389 (GRCm39) |
R54Q |
probably damaging |
Het |
Asb15 |
T |
A |
6: 24,556,556 (GRCm39) |
I17N |
probably damaging |
Het |
Atp8a1 |
T |
C |
5: 67,914,039 (GRCm39) |
|
probably null |
Het |
Caprin1 |
A |
G |
2: 103,627,146 (GRCm39) |
V47A |
probably benign |
Het |
Col4a2 |
T |
C |
8: 11,464,779 (GRCm39) |
V348A |
probably benign |
Het |
Disp2 |
A |
G |
2: 118,622,487 (GRCm39) |
K1073R |
probably damaging |
Het |
Dmxl2 |
G |
A |
9: 54,313,190 (GRCm39) |
H1686Y |
possibly damaging |
Het |
Dzank1 |
C |
T |
2: 144,353,432 (GRCm39) |
V152I |
probably benign |
Het |
Elp1 |
A |
T |
4: 56,792,105 (GRCm39) |
I221N |
possibly damaging |
Het |
Evl |
T |
A |
12: 108,614,681 (GRCm39) |
I25N |
probably damaging |
Het |
Fam117a |
A |
G |
11: 95,271,699 (GRCm39) |
K424E |
probably damaging |
Het |
Gm17732 |
C |
T |
18: 62,795,823 (GRCm39) |
|
probably benign |
Het |
Gpr158 |
T |
C |
2: 21,820,480 (GRCm39) |
I659T |
possibly damaging |
Het |
Hectd4 |
T |
A |
5: 121,442,400 (GRCm39) |
V1280E |
possibly damaging |
Het |
Irs4 |
T |
C |
X: 140,508,071 (GRCm39) |
T42A |
probably damaging |
Het |
Kdm4a |
C |
T |
4: 117,999,708 (GRCm39) |
V905I |
probably damaging |
Het |
Lsp1 |
G |
A |
7: 142,043,115 (GRCm39) |
R221H |
probably damaging |
Het |
Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
Mmut |
A |
T |
17: 41,258,057 (GRCm39) |
I408F |
probably damaging |
Het |
Nckap1 |
A |
T |
2: 80,343,073 (GRCm39) |
V942E |
probably benign |
Het |
Neto1 |
T |
A |
18: 86,491,785 (GRCm39) |
C229S |
possibly damaging |
Het |
Nipal2 |
A |
G |
15: 34,650,544 (GRCm39) |
I63T |
probably damaging |
Het |
Or11g2 |
T |
C |
14: 50,855,967 (GRCm39) |
I96T |
probably damaging |
Het |
Or1af1 |
G |
A |
2: 37,110,118 (GRCm39) |
V206I |
probably damaging |
Het |
Or4k49 |
A |
T |
2: 111,495,225 (GRCm39) |
Y218F |
probably damaging |
Het |
Or7e165 |
A |
T |
9: 19,695,235 (GRCm39) |
R269W |
probably damaging |
Het |
Or8g36 |
C |
A |
9: 39,422,810 (GRCm39) |
V69F |
possibly damaging |
Het |
Pgpep1 |
T |
C |
8: 71,103,283 (GRCm39) |
E120G |
probably benign |
Het |
Pkhd1 |
A |
T |
1: 20,187,397 (GRCm39) |
M3637K |
probably benign |
Het |
Pkm |
T |
C |
9: 59,573,164 (GRCm39) |
V58A |
probably damaging |
Het |
Ppp2r1b |
C |
A |
9: 50,772,985 (GRCm39) |
T154K |
probably damaging |
Het |
Rgs18 |
T |
A |
1: 144,631,818 (GRCm39) |
D98V |
possibly damaging |
Het |
Rsph6a |
G |
T |
7: 18,799,886 (GRCm39) |
A506S |
possibly damaging |
Het |
Selenop |
T |
A |
15: 3,305,183 (GRCm39) |
V113E |
probably damaging |
Het |
Slc6a11 |
G |
A |
6: 114,221,851 (GRCm39) |
V514M |
probably benign |
Het |
Srsf9 |
C |
T |
5: 115,470,696 (GRCm39) |
S132L |
probably damaging |
Het |
Tchh |
G |
A |
3: 93,351,088 (GRCm39) |
R176H |
possibly damaging |
Het |
Tcp11 |
T |
C |
17: 28,286,784 (GRCm39) |
N405S |
probably damaging |
Het |
Tle1 |
A |
C |
4: 72,036,584 (GRCm39) |
D760E |
probably damaging |
Het |
Tmem178 |
A |
G |
17: 81,252,488 (GRCm39) |
D124G |
possibly damaging |
Het |
Trabd |
G |
A |
15: 88,966,929 (GRCm39) |
E118K |
probably damaging |
Het |
Ttc39a |
A |
G |
4: 109,283,499 (GRCm39) |
D115G |
probably damaging |
Het |
Uaca |
T |
A |
9: 60,778,379 (GRCm39) |
M920K |
possibly damaging |
Het |
Uba2 |
A |
T |
7: 33,861,038 (GRCm39) |
M5K |
probably damaging |
Het |
Unc5c |
C |
T |
3: 141,476,863 (GRCm39) |
P343L |
probably damaging |
Het |
Wdhd1 |
T |
C |
14: 47,501,043 (GRCm39) |
D453G |
probably damaging |
Het |
Wfdc8 |
A |
G |
2: 164,445,145 (GRCm39) |
Y157H |
probably damaging |
Het |
Zbbx |
T |
G |
3: 74,985,757 (GRCm39) |
K432Q |
probably benign |
Het |
Zeb2 |
G |
A |
2: 44,907,438 (GRCm39) |
T169M |
probably benign |
Het |
Zfp956 |
A |
G |
6: 47,932,962 (GRCm39) |
E79G |
probably damaging |
Het |
Zzef1 |
G |
A |
11: 72,708,895 (GRCm39) |
V165I |
probably benign |
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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGCCCCAGAACGGCTTGGAGATG -3'
(R):5'- GGCCTGCCCCTCATAGCTACCTAAC -3'
Sequencing Primer
(F):5'- AGCCAGTGCCCCTGAAAG -3'
(R):5'- cctaaccaggcaagggc -3'
|
Posted On |
2013-07-11 |