Incidental Mutation 'R1807:Lmtk3'
| ID |
203531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmtk3
|
| Ensembl Gene |
ENSMUSG00000062044 |
| Gene Name |
lemur tyrosine kinase 3 |
| Synonyms |
AATYK3, Aatyk3 |
| MMRRC Submission |
039836-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.491)
|
| Stock # |
R1807 (G1)
|
| Quality Score |
172 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45433162-45453568 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 45442702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 462
(P462S)
|
| 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 |
probably benign
Transcript: ENSMUST00000072580
AA Change: P436S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000072388
Gene: ENSMUSG00000062044
AA Change: P436S
| 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: ENSMUST00000118564
AA Change: P462S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000113323
Gene: ENSMUSG00000062044
AA Change: P462S
| 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 |
probably benign
Transcript: ENSMUST00000120005
AA Change: P436S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112592
Gene: ENSMUSG00000062044
AA Change: P436S
| 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 |
probably benign
Transcript: ENSMUST00000209617
AA Change: P462S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209701
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211127
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.7%
- 20x: 90.7%
|
| Validation Efficiency |
97% (77/79) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
C |
T |
17: 36,205,961 (GRCm39) |
W27* |
probably null |
Het |
| 4933430I17Rik |
T |
A |
4: 62,460,993 (GRCm39) |
Y289* |
probably null |
Het |
| A3galt2 |
A |
G |
4: 128,661,394 (GRCm39) |
I348V |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,241,755 (GRCm39) |
Y1206C |
probably damaging |
Het |
| Adar |
T |
C |
3: 89,642,172 (GRCm39) |
S18P |
probably benign |
Het |
| Akr1cl |
T |
C |
1: 65,061,106 (GRCm39) |
D139G |
possibly damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,802,873 (GRCm39) |
Y137C |
possibly damaging |
Het |
| Arsa |
T |
C |
15: 89,359,525 (GRCm39) |
M86V |
possibly damaging |
Het |
| Atg9b |
C |
A |
5: 24,592,055 (GRCm39) |
R648L |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,824,692 (GRCm39) |
N1042S |
possibly damaging |
Het |
| Ccdc6 |
T |
A |
10: 70,010,989 (GRCm39) |
D325E |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,101,203 (GRCm39) |
S354P |
unknown |
Het |
| Chst3 |
T |
A |
10: 60,022,130 (GRCm39) |
Y239F |
probably benign |
Het |
| Cilp2 |
C |
A |
8: 70,334,844 (GRCm39) |
R718L |
probably damaging |
Het |
| Col27a1 |
A |
G |
4: 63,249,586 (GRCm39) |
|
probably benign |
Het |
| Ctbp2 |
T |
C |
7: 132,616,137 (GRCm39) |
N266S |
probably benign |
Het |
| Ctnnd2 |
T |
C |
15: 30,620,017 (GRCm39) |
V123A |
probably damaging |
Het |
| Cyria |
G |
A |
12: 12,411,505 (GRCm39) |
R123Q |
probably benign |
Het |
| D7Ertd443e |
T |
A |
7: 133,895,034 (GRCm39) |
E552V |
probably null |
Het |
| Dcst1 |
T |
A |
3: 89,260,848 (GRCm39) |
H516L |
probably damaging |
Het |
| Depp1 |
G |
A |
6: 116,628,683 (GRCm39) |
V9M |
possibly damaging |
Het |
| Drd2 |
C |
T |
9: 49,316,367 (GRCm39) |
L376F |
probably damaging |
Het |
| Edn1 |
A |
G |
13: 42,460,270 (GRCm39) |
N175S |
probably damaging |
Het |
| Eipr1 |
G |
T |
12: 28,816,838 (GRCm39) |
G65V |
probably damaging |
Het |
| Epha4 |
G |
A |
1: 77,351,541 (GRCm39) |
P905S |
probably benign |
Het |
| Erbb2 |
T |
C |
11: 98,319,680 (GRCm39) |
Y591H |
probably damaging |
Het |
| Fam135b |
G |
A |
15: 71,335,761 (GRCm39) |
R478C |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,180,085 (GRCm39) |
T1419A |
probably damaging |
Het |
| Flnb |
C |
T |
14: 7,934,645 (GRCm38) |
T2239I |
probably benign |
Het |
| Gm7713 |
T |
C |
15: 59,866,320 (GRCm39) |
|
noncoding transcript |
Het |
| Hsf5 |
C |
T |
11: 87,548,168 (GRCm39) |
P617L |
probably benign |
Het |
| Kcnk12 |
C |
A |
17: 88,053,468 (GRCm39) |
R398L |
probably benign |
Het |
| Kif21b |
T |
A |
1: 136,075,531 (GRCm39) |
N219K |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klra5 |
A |
T |
6: 129,876,383 (GRCm39) |
F141L |
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,167,938 (GRCm39) |
|
probably benign |
Het |
| Me1 |
T |
A |
9: 86,532,932 (GRCm39) |
T197S |
probably damaging |
Het |
| Msr1 |
T |
A |
8: 40,072,948 (GRCm39) |
Q267L |
probably benign |
Het |
| Nfic |
T |
C |
10: 81,240,819 (GRCm39) |
T328A |
probably benign |
Het |
| Nphp3 |
G |
A |
9: 103,897,940 (GRCm39) |
D390N |
probably benign |
Het |
| Nr2e1 |
T |
A |
10: 42,458,905 (GRCm39) |
|
probably null |
Het |
| Nt5el |
A |
T |
13: 105,218,744 (GRCm39) |
Q26L |
probably benign |
Het |
| Or52e19b |
T |
A |
7: 103,032,790 (GRCm39) |
N140Y |
probably benign |
Het |
| Or5t9 |
T |
A |
2: 86,659,445 (GRCm39) |
F116L |
probably benign |
Het |
| Pard6b |
T |
C |
2: 167,929,332 (GRCm39) |
L46P |
probably damaging |
Het |
| Prkaa1 |
T |
A |
15: 5,173,436 (GRCm39) |
L20Q |
probably damaging |
Het |
| Rapgefl1 |
T |
C |
11: 98,736,815 (GRCm39) |
|
probably null |
Het |
| Recql5 |
T |
C |
11: 115,785,941 (GRCm39) |
K611E |
possibly damaging |
Het |
| Rexo1 |
A |
T |
10: 80,378,413 (GRCm39) |
I1180N |
possibly damaging |
Het |
| Rnf26rt |
A |
G |
6: 76,474,397 (GRCm39) |
V73A |
probably benign |
Het |
| Rph3a |
T |
C |
5: 121,083,456 (GRCm39) |
N605D |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,409,491 (GRCm39) |
V592A |
possibly damaging |
Het |
| Skint11 |
A |
T |
4: 114,051,893 (GRCm39) |
R80S |
probably benign |
Het |
| Smpdl3a |
C |
A |
10: 57,677,118 (GRCm39) |
P72H |
probably damaging |
Het |
| Sobp |
T |
G |
10: 43,036,822 (GRCm39) |
M39L |
possibly damaging |
Het |
| Sparcl1 |
T |
A |
5: 104,233,627 (GRCm39) |
Y574F |
probably damaging |
Het |
| Spns3 |
C |
T |
11: 72,429,166 (GRCm39) |
W206* |
probably null |
Het |
| Srf |
A |
G |
17: 46,864,685 (GRCm39) |
V190A |
possibly damaging |
Het |
| Stag1 |
T |
G |
9: 100,790,719 (GRCm39) |
H742Q |
probably benign |
Het |
| Strn3 |
A |
T |
12: 51,673,986 (GRCm39) |
S542T |
probably benign |
Het |
| Synpo2 |
T |
C |
3: 122,873,906 (GRCm39) |
E1020G |
possibly damaging |
Het |
| Tcerg1l |
T |
A |
7: 137,996,826 (GRCm39) |
H137L |
probably benign |
Het |
| Tlr12 |
A |
T |
4: 128,511,229 (GRCm39) |
D340E |
probably benign |
Het |
| Tmem130 |
T |
A |
5: 144,692,174 (GRCm39) |
T77S |
probably benign |
Het |
| Tmem143 |
C |
A |
7: 45,547,037 (GRCm39) |
R68S |
probably damaging |
Het |
| Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
| Trem1 |
G |
T |
17: 48,548,663 (GRCm39) |
G67* |
probably null |
Het |
| Tsc1 |
A |
G |
2: 28,576,125 (GRCm39) |
D978G |
probably benign |
Het |
| Txndc9 |
A |
T |
1: 38,033,096 (GRCm39) |
H95Q |
probably damaging |
Het |
| Yju2b |
C |
T |
8: 84,986,936 (GRCm39) |
R187Q |
probably damaging |
Het |
| Zfp35 |
T |
A |
18: 24,136,986 (GRCm39) |
N443K |
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 |
|
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 |
|
|
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'- TCATTTGTCCCCAGGTATGAC -3'
(R):5'- GCGCCTCATAGAAGGGATTG -3'
Sequencing Primer
(F):5'- CCCAGGTATGACATTTTGCAG -3'
(R):5'- CCTCATAGAAGGGATTGGATGGATTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation