Incidental Mutation 'R4247:Lmtk3'
ID |
320466 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lmtk3
|
Ensembl Gene |
ENSMUSG00000062044 |
Gene Name |
lemur tyrosine kinase 3 |
Synonyms |
AATYK3, Aatyk3 |
MMRRC Submission |
041063-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.554)
|
Stock # |
R4247 (G1)
|
Quality Score |
171 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
45433162-45453568 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 45443486 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 723
(C723Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148041
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072580]
[ENSMUST00000120005]
[ENSMUST00000209617]
[ENSMUST00000209701]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072580
AA Change: C697Y
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000072388 Gene: ENSMUSG00000062044 AA Change: C697Y
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 |
possibly damaging
Transcript: ENSMUST00000118564
AA Change: C723Y
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000113323 Gene: ENSMUSG00000062044 AA Change: C723Y
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 |
possibly damaging
Transcript: ENSMUST00000120005
AA Change: C697Y
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000112592 Gene: ENSMUSG00000062044 AA Change: C697Y
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 |
possibly damaging
Transcript: ENSMUST00000209617
AA Change: C723Y
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209701
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211127
|
Meta Mutation Damage Score |
0.0588 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (41/42) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
T |
C |
5: 8,195,626 (GRCm39) |
I305V |
probably benign |
Het |
Aga |
T |
A |
8: 53,964,865 (GRCm39) |
L9Q |
possibly damaging |
Het |
Akna |
C |
T |
4: 63,313,409 (GRCm39) |
G238D |
probably benign |
Het |
Arhgap23 |
G |
A |
11: 97,354,525 (GRCm39) |
E813K |
probably damaging |
Het |
Atp13a2 |
T |
C |
4: 140,719,539 (GRCm39) |
|
probably null |
Het |
Atp8a1 |
C |
T |
5: 67,824,917 (GRCm39) |
G820S |
probably damaging |
Het |
Ccdc97 |
T |
G |
7: 25,415,459 (GRCm39) |
H68P |
possibly damaging |
Het |
Dclre1b |
A |
C |
3: 103,711,400 (GRCm39) |
|
probably null |
Het |
Erap1 |
T |
C |
13: 74,823,414 (GRCm39) |
I816T |
probably damaging |
Het |
Fubp1 |
G |
A |
3: 151,937,573 (GRCm39) |
A103T |
possibly damaging |
Het |
Gnal |
C |
G |
18: 67,221,654 (GRCm39) |
P19R |
unknown |
Het |
Gtf3c5 |
T |
C |
2: 28,461,196 (GRCm39) |
D306G |
probably damaging |
Het |
Hecw2 |
C |
T |
1: 53,871,804 (GRCm39) |
V1381M |
probably damaging |
Het |
Hsdl2 |
A |
T |
4: 59,594,417 (GRCm39) |
N16I |
probably damaging |
Het |
Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
Kif27 |
A |
G |
13: 58,435,731 (GRCm39) |
V1354A |
probably damaging |
Het |
Kif9 |
G |
T |
9: 110,325,027 (GRCm39) |
|
probably null |
Het |
Lrrc24 |
A |
G |
15: 76,602,176 (GRCm39) |
I193T |
possibly damaging |
Het |
Or2bd2 |
A |
G |
7: 6,441,901 (GRCm39) |
|
probably benign |
Het |
Or52b1 |
T |
C |
7: 104,979,355 (GRCm39) |
I15V |
probably benign |
Het |
Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
Pramel52-ps |
A |
G |
5: 94,531,446 (GRCm39) |
D110G |
possibly damaging |
Het |
Ranbp2 |
A |
G |
10: 58,314,686 (GRCm39) |
D1802G |
possibly damaging |
Het |
Resf1 |
T |
A |
6: 149,227,041 (GRCm39) |
M29K |
possibly damaging |
Het |
Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
Scn11a |
C |
T |
9: 119,636,952 (GRCm39) |
V250M |
probably damaging |
Het |
Slitrk1 |
A |
G |
14: 109,149,994 (GRCm39) |
V239A |
possibly damaging |
Het |
Slitrk6 |
T |
A |
14: 110,988,171 (GRCm39) |
D512V |
probably damaging |
Het |
Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
Sumf1 |
A |
C |
6: 108,131,974 (GRCm39) |
V156G |
probably damaging |
Het |
Tamalin |
G |
T |
15: 101,122,418 (GRCm39) |
R79L |
possibly damaging |
Het |
Trp73 |
A |
G |
4: 154,149,089 (GRCm39) |
|
probably null |
Het |
Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
Upp1 |
T |
C |
11: 9,084,815 (GRCm39) |
I178T |
probably benign |
Het |
Vmn2r73 |
A |
T |
7: 85,521,883 (GRCm39) |
L152Q |
probably damaging |
Het |
Vmn2r97 |
T |
C |
17: 19,167,542 (GRCm39) |
S599P |
possibly damaging |
Het |
Wrnip1 |
T |
C |
13: 32,990,866 (GRCm39) |
L375P |
probably damaging |
Het |
Zfp945 |
C |
T |
17: 23,069,583 (GRCm39) |
G793D |
probably damaging |
Het |
Zfyve9 |
C |
A |
4: 108,576,389 (GRCm39) |
A231S |
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 |
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 |
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'- CAGCGAGTACTATATCCGCC -3'
(R):5'- AAAAGGGGTCTCGGTCTCGTAG -3'
Sequencing Primer
(F):5'- AGATCCTGCCGAGGTGCTTG -3'
(R):5'- GTCTCGTAGCCGCTGTC -3'
|
Posted On |
2015-06-12 |