Incidental Mutation 'R8732:Lmtk3'
| ID |
662806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmtk3
|
| Ensembl Gene |
ENSMUSG00000062044 |
| Gene Name |
lemur tyrosine kinase 3 |
| Synonyms |
AATYK3, Aatyk3 |
| MMRRC Submission |
068580-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.491)
|
| Stock # |
R8732 (G1)
|
| Quality Score |
115.008 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45433162-45453568 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45447712 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 1253
(A1253T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072580]
[ENSMUST00000120005]
[ENSMUST00000209617]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000072580
AA Change: A1227T
|
| SMART Domains |
Protein: ENSMUSP00000072388
Gene: ENSMUSG00000062044
AA Change: A1227T
| 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: A1227T
|
| SMART Domains |
Protein: ENSMUSP00000112592
Gene: ENSMUSG00000062044
AA Change: A1227T
| 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: ENSMUST00000209617
AA Change: A1253T
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.0%
|
| Validation Efficiency |
98% (63/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adtrp |
A |
T |
13: 41,981,622 (GRCm39) |
N82K |
probably damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,578,906 (GRCm39) |
S57T |
possibly damaging |
Het |
| Aoc3 |
A |
G |
11: 101,222,643 (GRCm39) |
N293S |
probably benign |
Het |
| Aup1 |
A |
T |
6: 83,033,602 (GRCm39) |
H302L |
probably damaging |
Het |
| Bptf |
G |
A |
11: 106,931,206 (GRCm39) |
R277W |
probably damaging |
Het |
| Cald1 |
A |
G |
6: 34,734,946 (GRCm39) |
I346V |
unknown |
Het |
| Cd44 |
T |
C |
2: 102,664,645 (GRCm39) |
T519A |
possibly damaging |
Het |
| Cela1 |
A |
G |
15: 100,580,766 (GRCm39) |
|
probably null |
Het |
| Ces2g |
T |
C |
8: 105,689,195 (GRCm39) |
V57A |
possibly damaging |
Het |
| Cpt1b |
G |
C |
15: 89,308,628 (GRCm39) |
T100S |
probably benign |
Het |
| D6Wsu163e |
A |
T |
6: 126,932,859 (GRCm39) |
I361F |
possibly damaging |
Het |
| Dock5 |
A |
T |
14: 68,083,449 (GRCm39) |
D153E |
possibly damaging |
Het |
| Dync2h1 |
G |
T |
9: 7,168,326 (GRCm39) |
R430S |
probably damaging |
Het |
| Dync2i2 |
T |
A |
2: 29,922,220 (GRCm39) |
T414S |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,695,100 (GRCm39) |
F1730L |
probably benign |
Het |
| Eml5 |
C |
T |
12: 98,782,218 (GRCm39) |
G1405R |
probably damaging |
Het |
| Ergic2 |
G |
A |
6: 148,102,975 (GRCm39) |
A91V |
probably damaging |
Het |
| Fancl |
A |
T |
11: 26,419,754 (GRCm39) |
I336L |
probably benign |
Het |
| Fpr3 |
A |
G |
17: 18,191,223 (GRCm39) |
T165A |
possibly damaging |
Het |
| Gon4l |
A |
G |
3: 88,807,291 (GRCm39) |
I1662V |
possibly damaging |
Het |
| Gpr153 |
C |
T |
4: 152,363,558 (GRCm39) |
|
probably benign |
Het |
| Hdac4 |
C |
A |
1: 91,875,239 (GRCm39) |
A911S |
probably damaging |
Het |
| Ighd |
T |
C |
12: 113,378,183 (GRCm39) |
N139D |
|
Het |
| Klhl22 |
T |
A |
16: 17,589,690 (GRCm39) |
L117Q |
probably damaging |
Het |
| Kntc1 |
A |
G |
5: 123,928,180 (GRCm39) |
S1226G |
probably benign |
Het |
| Lama5 |
A |
T |
2: 179,828,481 (GRCm39) |
C2126S |
probably damaging |
Het |
| Ldlr |
A |
G |
9: 21,650,985 (GRCm39) |
I468V |
probably benign |
Het |
| Lta |
T |
A |
17: 35,423,045 (GRCm39) |
N93Y |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,403,563 (GRCm39) |
|
probably null |
Het |
| Mink1 |
A |
G |
11: 70,500,902 (GRCm39) |
|
probably null |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Ntpcr |
A |
G |
8: 126,472,074 (GRCm39) |
M132V |
probably benign |
Het |
| Or14a257 |
A |
G |
7: 86,138,061 (GRCm39) |
S233P |
probably damaging |
Het |
| Or52n1 |
A |
G |
7: 104,383,115 (GRCm39) |
M152T |
probably benign |
Het |
| Or7g32 |
T |
C |
9: 19,408,098 (GRCm39) |
I18T |
probably benign |
Het |
| Padi2 |
A |
G |
4: 140,660,590 (GRCm39) |
I357V |
probably benign |
Het |
| Pax7 |
G |
T |
4: 139,506,920 (GRCm39) |
H372Q |
probably benign |
Het |
| Paxip1 |
A |
G |
5: 27,949,541 (GRCm39) |
Y966H |
probably damaging |
Het |
| Pde4b |
A |
C |
4: 102,412,822 (GRCm39) |
D199A |
probably null |
Het |
| Pkd1l2 |
T |
C |
8: 117,792,311 (GRCm39) |
N494D |
probably benign |
Het |
| Prdm2 |
G |
T |
4: 142,862,580 (GRCm39) |
Q237K |
probably benign |
Het |
| Prune2 |
T |
C |
19: 17,097,769 (GRCm39) |
L1091P |
probably damaging |
Het |
| Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
| Rassf5 |
A |
G |
1: 131,106,264 (GRCm39) |
*414Q |
probably null |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rrp9 |
C |
A |
9: 106,360,388 (GRCm39) |
T238K |
probably benign |
Het |
| Slc44a2 |
A |
G |
9: 21,259,882 (GRCm39) |
D630G |
probably benign |
Het |
| Slc7a9 |
A |
G |
7: 35,156,443 (GRCm39) |
D295G |
probably benign |
Het |
| Slco3a1 |
A |
T |
7: 73,934,054 (GRCm39) |
M706K |
possibly damaging |
Het |
| Spag9 |
T |
C |
11: 93,962,514 (GRCm39) |
|
probably null |
Het |
| Stam2 |
A |
T |
2: 52,590,180 (GRCm39) |
Y394N |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,510,442 (GRCm39) |
L341P |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,171,624 (GRCm39) |
H160Q |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,061,809 (GRCm39) |
C334S |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tmem74 |
A |
T |
15: 43,731,456 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,537,480 (GRCm39) |
K34816R |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,627,735 (GRCm39) |
N14736I |
probably damaging |
Het |
| Vmn1r183 |
A |
G |
7: 23,754,890 (GRCm39) |
Q231R |
possibly damaging |
Het |
| Vmn1r235 |
A |
G |
17: 21,482,439 (GRCm39) |
T255A |
probably damaging |
Het |
| Wasl |
A |
T |
6: 24,619,209 (GRCm39) |
I437K |
unknown |
Het |
| Ywhae |
A |
G |
11: 75,642,769 (GRCm39) |
N43D |
probably damaging |
Het |
| Zfp583 |
A |
T |
7: 6,320,210 (GRCm39) |
Y267* |
probably null |
Het |
| Zfp608 |
C |
T |
18: 55,121,072 (GRCm39) |
G172R |
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 |
|
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 |
|
|
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'- CTGTGGAAGAAGCTTGTTGC -3'
(R):5'- AAGGAGACCATCTTGCGCTTC -3'
Sequencing Primer
(F):5'- TGCGCACAGAAAGGCCTC -3'
(R):5'- TGGAGACTTGAGCAGCCC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation