Incidental Mutation 'R7335:Lmtk3'
| ID |
569435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmtk3
|
| Ensembl Gene |
ENSMUSG00000062044 |
| Gene Name |
lemur tyrosine kinase 3 |
| Synonyms |
AATYK3, Aatyk3 |
| MMRRC Submission |
045372-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.491)
|
| Stock # |
R7335 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45433162-45453568 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45444581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 1088
(T1088I)
|
| 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 |
unknown
Transcript: ENSMUST00000072580
AA Change: T1062I
|
| SMART Domains |
Protein: ENSMUSP00000072388
Gene: ENSMUSG00000062044
AA Change: T1062I
| 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: T1062I
|
| SMART Domains |
Protein: ENSMUSP00000112592
Gene: ENSMUSG00000062044
AA Change: T1062I
| 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: T1088I
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209701
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211127
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (56/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
G |
11: 50,493,093 (GRCm39) |
S35G |
probably benign |
Het |
| Adcy6 |
G |
T |
15: 98,501,757 (GRCm39) |
Q286K |
probably benign |
Het |
| Agrn |
A |
G |
4: 156,260,989 (GRCm39) |
S676P |
probably damaging |
Het |
| Arpp21 |
A |
T |
9: 112,005,319 (GRCm39) |
|
probably null |
Het |
| Bmal2 |
A |
G |
6: 146,711,217 (GRCm39) |
M74V |
probably benign |
Het |
| C1rb |
A |
T |
6: 124,552,238 (GRCm39) |
I319F |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,071,810 (GRCm39) |
V629A |
|
Het |
| Cacna1i |
T |
G |
15: 80,259,776 (GRCm39) |
F1287C |
probably damaging |
Het |
| Catspere2 |
A |
G |
1: 177,926,074 (GRCm39) |
I247V |
probably benign |
Het |
| Cd101 |
C |
G |
3: 100,926,045 (GRCm39) |
A229P |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,140,895 (GRCm39) |
D3151G |
probably damaging |
Het |
| Cenpc1 |
C |
A |
5: 86,182,212 (GRCm39) |
K557N |
possibly damaging |
Het |
| Col6a4 |
G |
A |
9: 105,954,091 (GRCm39) |
T416M |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,628,451 (GRCm39) |
C164* |
probably null |
Het |
| Dop1b |
A |
G |
16: 93,544,396 (GRCm39) |
E179G |
probably benign |
Het |
| Duoxa2 |
A |
T |
2: 122,131,821 (GRCm39) |
Y170F |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,884,829 (GRCm39) |
K2569R |
possibly damaging |
Het |
| Fsip2 |
C |
A |
2: 82,813,462 (GRCm39) |
H3260Q |
probably benign |
Het |
| Gm3402 |
T |
C |
5: 146,452,043 (GRCm39) |
I121T |
probably benign |
Het |
| Herc3 |
T |
A |
6: 58,853,773 (GRCm39) |
H606Q |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,282,169 (GRCm39) |
V1927A |
possibly damaging |
Het |
| Hnf4g |
A |
G |
3: 3,717,924 (GRCm39) |
H347R |
possibly damaging |
Het |
| Hs3st3a1 |
A |
G |
11: 64,411,163 (GRCm39) |
T234A |
probably benign |
Het |
| Hyal1 |
G |
T |
9: 107,456,359 (GRCm39) |
V379L |
probably benign |
Het |
| Ighv1-19 |
A |
G |
12: 114,672,571 (GRCm39) |
|
probably benign |
Het |
| Iqcc |
T |
A |
4: 129,510,501 (GRCm39) |
Q338L |
not run |
Het |
| Kdm5b |
T |
C |
1: 134,488,177 (GRCm39) |
V34A |
probably damaging |
Het |
| Lgals4 |
T |
C |
7: 28,540,571 (GRCm39) |
F225L |
probably benign |
Het |
| Magel2 |
A |
T |
7: 62,030,524 (GRCm39) |
S1143C |
unknown |
Het |
| Mapk4 |
A |
T |
18: 74,070,338 (GRCm39) |
L185Q |
possibly damaging |
Het |
| Mtcl2 |
T |
C |
2: 156,872,925 (GRCm39) |
Q862R |
possibly damaging |
Het |
| Ncam1 |
A |
G |
9: 49,418,211 (GRCm39) |
S1030P |
|
Het |
| Nynrin |
A |
T |
14: 56,101,371 (GRCm39) |
T347S |
probably benign |
Het |
| Pak5 |
T |
C |
2: 135,940,219 (GRCm39) |
T532A |
probably damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,389 (GRCm39) |
E207G |
probably damaging |
Het |
| Pde6h |
T |
C |
6: 136,940,211 (GRCm39) |
W66R |
probably damaging |
Het |
| Pmaip1 |
T |
C |
18: 66,591,885 (GRCm39) |
|
probably null |
Het |
| Prkd3 |
A |
G |
17: 79,261,995 (GRCm39) |
F774S |
probably damaging |
Het |
| Prox1 |
T |
A |
1: 189,894,042 (GRCm39) |
R134S |
possibly damaging |
Het |
| Ptpn22 |
T |
A |
3: 103,793,335 (GRCm39) |
H495Q |
probably damaging |
Het |
| Ptprj |
G |
T |
2: 90,271,126 (GRCm39) |
Q1201K |
probably benign |
Het |
| Rp1l1 |
A |
G |
14: 64,269,447 (GRCm39) |
S1678G |
probably benign |
Het |
| Sez6l |
G |
T |
5: 112,724,678 (GRCm39) |
|
probably null |
Het |
| Sgcg |
T |
A |
14: 61,477,816 (GRCm39) |
Y91F |
probably damaging |
Het |
| Skint2 |
C |
T |
4: 112,481,415 (GRCm39) |
L93F |
probably damaging |
Het |
| Slc22a22 |
A |
T |
15: 57,126,771 (GRCm39) |
D99E |
probably benign |
Het |
| Slco3a1 |
A |
G |
7: 73,934,090 (GRCm39) |
I694T |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,736,911 (GRCm39) |
I305N |
possibly damaging |
Het |
| Stac3 |
T |
A |
10: 127,340,769 (GRCm39) |
V178D |
probably benign |
Het |
| Suclg2 |
G |
A |
6: 95,543,444 (GRCm39) |
A329V |
probably damaging |
Het |
| Suclg2 |
T |
A |
6: 95,543,441 (GRCm39) |
N330I |
probably damaging |
Het |
| Tas2r118 |
C |
T |
6: 23,969,749 (GRCm39) |
C104Y |
probably damaging |
Het |
| Tom1l2 |
T |
G |
11: 60,135,991 (GRCm39) |
E327D |
probably benign |
Het |
| Trit1 |
T |
C |
4: 122,910,572 (GRCm39) |
M57T |
possibly damaging |
Het |
| Vav1 |
G |
A |
17: 57,603,720 (GRCm39) |
S134N |
probably benign |
Het |
| Vmn2r82 |
T |
C |
10: 79,214,722 (GRCm39) |
L235P |
probably damaging |
Het |
| Zfp735 |
T |
A |
11: 73,602,379 (GRCm39) |
V441E |
possibly damaging |
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 |
|
|
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'- TTCTGATGTCCCCAAAGAGCG -3'
(R):5'- TGGTCTCGAGTTGTCTACCC -3'
Sequencing Primer
(F):5'- AATGGGGTCCTGAGGCTGC -3'
(R):5'- CGAGTTGTCTACCCATCCGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation