Incidental Mutation 'R4587:Lmtk3'
| ID |
344169 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmtk3
|
| Ensembl Gene |
ENSMUSG00000062044 |
| Gene Name |
lemur tyrosine kinase 3 |
| Synonyms |
AATYK3, Aatyk3 |
| MMRRC Submission |
042006-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.554)
|
| Stock # |
R4587 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45433162-45453568 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45443504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 729
(D729G)
|
| 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: D703G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072388
Gene: ENSMUSG00000062044
AA Change: D703G
| 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: D729G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113323
Gene: ENSMUSG00000062044
AA Change: D729G
| 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: D703G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112592
Gene: ENSMUSG00000062044
AA Change: D703G
| 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: D729G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209701
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211127
|
| Meta Mutation Damage Score |
0.0718 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
100% (47/47) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16a |
T |
C |
17: 35,320,063 (GRCm39) |
|
probably null |
Het |
| Adsl |
T |
C |
15: 80,851,968 (GRCm39) |
|
probably null |
Het |
| Arhgap32 |
T |
C |
9: 32,172,241 (GRCm39) |
S1674P |
probably benign |
Het |
| Cd244a |
T |
G |
1: 171,405,447 (GRCm39) |
D277E |
probably benign |
Het |
| Ceacam23 |
C |
T |
7: 17,620,149 (GRCm39) |
L18F |
possibly damaging |
Het |
| Ces1a |
A |
G |
8: 93,751,932 (GRCm39) |
Y401H |
probably damaging |
Het |
| Chd9 |
G |
T |
8: 91,763,134 (GRCm39) |
V2320F |
possibly damaging |
Het |
| Chrd |
A |
G |
16: 20,557,325 (GRCm39) |
E670G |
possibly damaging |
Het |
| Ckap2 |
A |
G |
8: 22,666,992 (GRCm39) |
S290P |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,751,680 (GRCm39) |
|
probably null |
Het |
| Col15a1 |
C |
T |
4: 47,257,184 (GRCm39) |
T325M |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,230,636 (GRCm39) |
I971T |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,304,745 (GRCm39) |
F1652S |
probably damaging |
Het |
| Dok6 |
T |
C |
18: 89,319,320 (GRCm39) |
Q312R |
probably benign |
Het |
| Glis1 |
C |
A |
4: 107,484,740 (GRCm39) |
H600N |
possibly damaging |
Het |
| Hivep1 |
A |
G |
13: 42,309,704 (GRCm39) |
D648G |
probably benign |
Het |
| Kif22 |
A |
T |
7: 126,632,052 (GRCm39) |
|
probably null |
Het |
| Mapk8ip3 |
G |
A |
17: 25,123,761 (GRCm39) |
P587L |
probably damaging |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,960,800 (GRCm39) |
K1038E |
unknown |
Het |
| Nf1 |
T |
A |
11: 79,426,863 (GRCm39) |
|
probably null |
Het |
| Nom1 |
T |
C |
5: 29,656,163 (GRCm39) |
S843P |
possibly damaging |
Het |
| Or1e33 |
A |
G |
11: 73,738,045 (GRCm39) |
I302T |
probably benign |
Het |
| Pex14 |
A |
G |
4: 149,048,021 (GRCm39) |
|
probably benign |
Het |
| Ptcd1 |
T |
C |
5: 145,091,531 (GRCm39) |
T523A |
possibly damaging |
Het |
| Rasip1 |
T |
C |
7: 45,282,159 (GRCm39) |
V554A |
possibly damaging |
Het |
| Ric3 |
A |
T |
7: 108,653,570 (GRCm39) |
|
probably null |
Het |
| Skint4 |
G |
A |
4: 111,944,221 (GRCm39) |
C11Y |
probably damaging |
Het |
| Smr2 |
G |
A |
5: 88,256,631 (GRCm39) |
R103H |
probably benign |
Het |
| Sobp |
T |
C |
10: 43,034,020 (GRCm39) |
Y102C |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,926,473 (GRCm39) |
F356I |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,496,097 (GRCm39) |
V1044A |
possibly damaging |
Het |
| Tecpr1 |
C |
G |
5: 144,149,408 (GRCm39) |
V340L |
probably damaging |
Het |
| Tle3 |
A |
G |
9: 61,281,295 (GRCm39) |
I22V |
probably damaging |
Het |
| Trim30a |
G |
A |
7: 104,084,851 (GRCm39) |
R120* |
probably null |
Het |
| Trim72 |
A |
G |
7: 127,607,164 (GRCm39) |
D231G |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,695,648 (GRCm39) |
N255Y |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
| Wnt7a |
A |
T |
6: 91,343,324 (GRCm39) |
|
probably null |
Het |
| Zfp51 |
C |
T |
17: 21,685,178 (GRCm39) |
Q598* |
probably null |
Het |
| Zfp617 |
A |
T |
8: 72,683,003 (GRCm39) |
N51I |
probably damaging |
Het |
| Zfp977 |
A |
T |
7: 42,229,614 (GRCm39) |
C304S |
probably damaging |
Het |
| Zic1 |
A |
G |
9: 91,246,875 (GRCm39) |
S66P |
probably 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 |
|
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'- CAGCGAGTACTATATCCGCCTG -3'
(R):5'- AAAAGGGGTCTCGGTCTCGTAG -3'
Sequencing Primer
(F):5'- AGATCCTGCCGAGGTGCTTG -3'
(R):5'- GTCTCGTAGCCGCTGTC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation