Incidental Mutation 'R6856:Lmtk3'
ID |
535257 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lmtk3
|
Ensembl Gene |
ENSMUSG00000062044 |
Gene Name |
lemur tyrosine kinase 3 |
Synonyms |
AATYK3, Aatyk3 |
MMRRC Submission |
044958-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.554)
|
Stock # |
R6856 (G1)
|
Quality Score |
146.008 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
45433162-45453568 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to A
at 45443721 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: S775R
|
SMART Domains |
Protein: ENSMUSP00000072388 Gene: ENSMUSG00000062044 AA Change: S775R
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: ENSMUST00000120005
AA Change: S775R
|
SMART Domains |
Protein: ENSMUSP00000112592 Gene: ENSMUSG00000062044 AA Change: S775R
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: S801R
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209701
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211127
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl4 |
A |
G |
3: 151,205,755 (GRCm39) |
M156V |
probably benign |
Het |
Aire |
A |
T |
10: 77,866,089 (GRCm39) |
F546I |
probably damaging |
Het |
Ankk1 |
T |
C |
9: 49,331,320 (GRCm39) |
E230G |
probably benign |
Het |
Anp32a |
A |
T |
9: 62,279,397 (GRCm39) |
K86N |
possibly damaging |
Het |
Aqp4 |
T |
C |
18: 15,532,953 (GRCm39) |
I47V |
possibly damaging |
Het |
Arap3 |
A |
G |
18: 38,112,916 (GRCm39) |
V1098A |
possibly damaging |
Het |
Ascc3 |
T |
A |
10: 50,625,158 (GRCm39) |
W1652R |
probably damaging |
Het |
Atad2 |
T |
A |
15: 57,970,209 (GRCm39) |
H464L |
probably damaging |
Het |
Brca2 |
C |
A |
5: 150,463,673 (GRCm39) |
H1146N |
possibly damaging |
Het |
Capn9 |
G |
A |
8: 125,324,308 (GRCm39) |
V203M |
probably damaging |
Het |
Ccr6 |
T |
A |
17: 8,474,881 (GRCm39) |
S29T |
probably benign |
Het |
Cfap99 |
G |
T |
5: 34,467,561 (GRCm39) |
|
probably null |
Het |
Cpt1c |
C |
T |
7: 44,609,342 (GRCm39) |
G716S |
probably damaging |
Het |
Dhx29 |
A |
T |
13: 113,089,395 (GRCm39) |
Q722L |
probably benign |
Het |
Dmxl1 |
C |
T |
18: 49,985,355 (GRCm39) |
R201* |
probably null |
Het |
Dsg2 |
G |
A |
18: 20,734,859 (GRCm39) |
G946S |
probably damaging |
Het |
Erg |
C |
A |
16: 95,169,510 (GRCm39) |
|
probably null |
Het |
Fbxo32 |
G |
A |
15: 58,078,037 (GRCm39) |
|
probably benign |
Het |
Gask1b |
G |
T |
3: 79,793,448 (GRCm39) |
|
probably benign |
Het |
Glis1 |
T |
G |
4: 107,293,076 (GRCm39) |
D66E |
probably damaging |
Het |
Grm6 |
A |
T |
11: 50,750,652 (GRCm39) |
N605I |
probably damaging |
Het |
Gtf3c6 |
T |
C |
10: 40,125,668 (GRCm39) |
E183G |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,305,180 (GRCm39) |
M861V |
probably benign |
Het |
Igkv12-41 |
A |
T |
6: 69,835,513 (GRCm39) |
S80T |
probably damaging |
Het |
Itprid2 |
C |
T |
2: 79,488,049 (GRCm39) |
R711C |
probably damaging |
Het |
Kcnt2 |
T |
C |
1: 140,523,742 (GRCm39) |
S1057P |
probably damaging |
Het |
Krt36 |
T |
G |
11: 99,994,216 (GRCm39) |
Q287P |
probably damaging |
Het |
Ldhd |
A |
G |
8: 112,356,906 (GRCm39) |
S13P |
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,343,612 (GRCm39) |
F916I |
probably damaging |
Het |
Map4k1 |
A |
T |
7: 28,686,259 (GRCm39) |
I92F |
probably damaging |
Het |
Naa25 |
A |
T |
5: 121,576,867 (GRCm39) |
K872M |
probably damaging |
Het |
Nek3 |
C |
A |
8: 22,619,463 (GRCm39) |
G443V |
probably damaging |
Het |
Noxred1 |
T |
C |
12: 87,273,810 (GRCm39) |
E77G |
probably benign |
Het |
Nup210 |
G |
A |
6: 91,064,895 (GRCm39) |
Q202* |
probably null |
Het |
Or52d1 |
A |
T |
7: 103,755,998 (GRCm39) |
M171L |
probably benign |
Het |
Or8k27 |
G |
T |
2: 86,276,251 (GRCm39) |
S25Y |
probably benign |
Het |
Pax3 |
A |
G |
1: 78,109,056 (GRCm39) |
S201P |
probably damaging |
Het |
Pcdhgb5 |
T |
A |
18: 37,866,457 (GRCm39) |
Y751N |
probably benign |
Het |
Pign |
A |
T |
1: 105,481,620 (GRCm39) |
L792* |
probably null |
Het |
Pkd1 |
T |
C |
17: 24,792,467 (GRCm39) |
F1385L |
probably benign |
Het |
Plxnb2 |
A |
C |
15: 89,048,523 (GRCm39) |
C629G |
probably benign |
Het |
Prpsap2 |
A |
T |
11: 61,621,097 (GRCm39) |
I328N |
probably benign |
Het |
Prrc2c |
A |
G |
1: 162,509,940 (GRCm39) |
L2317P |
probably damaging |
Het |
Ptgfrn |
T |
C |
3: 100,952,762 (GRCm39) |
D824G |
probably damaging |
Het |
Ptpra |
G |
A |
2: 130,361,301 (GRCm39) |
S204N |
probably damaging |
Het |
Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
Rap1a |
A |
G |
3: 105,639,384 (GRCm39) |
F92L |
probably damaging |
Het |
Slmap |
A |
T |
14: 26,151,247 (GRCm39) |
|
probably null |
Het |
Spdye4c |
A |
G |
2: 128,438,050 (GRCm39) |
|
probably null |
Het |
Speer4a3 |
A |
G |
5: 26,155,843 (GRCm39) |
I167T |
probably benign |
Het |
Stk11 |
C |
A |
10: 79,963,924 (GRCm39) |
F97L |
probably benign |
Het |
Tbc1d9b |
G |
A |
11: 50,059,573 (GRCm39) |
A992T |
probably benign |
Het |
Tmem232 |
G |
A |
17: 65,757,305 (GRCm39) |
T296M |
possibly damaging |
Het |
Trim33 |
C |
T |
3: 103,259,365 (GRCm39) |
T1018M |
probably damaging |
Het |
Trpv2 |
A |
C |
11: 62,475,441 (GRCm39) |
I285L |
probably benign |
Het |
Usp46 |
A |
G |
5: 74,189,595 (GRCm39) |
|
probably benign |
Het |
Vmn1r27 |
T |
A |
6: 58,192,432 (GRCm39) |
M191L |
possibly damaging |
Het |
Vwf |
G |
T |
6: 125,619,113 (GRCm39) |
E1264* |
probably null |
Het |
Zfp109 |
A |
T |
7: 23,928,823 (GRCm39) |
N195K |
probably benign |
Het |
Zfp385b |
T |
A |
2: 77,246,138 (GRCm39) |
L208F |
probably damaging |
Het |
Zfp839 |
T |
A |
12: 110,833,195 (GRCm39) |
Y515* |
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 |
|
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 |
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'- ACTCTTCCTTGCGTGCAGAG -3'
(R):5'- CTACAAAGGTTGGCTTCTCCTGG -3'
Sequencing Primer
(F):5'- CTCCTTGGCCGACCTGC -3'
(R):5'- TTCTCCTGGGACCCTGGGAG -3'
|
Posted On |
2018-09-12 |