Incidental Mutation 'R5624:Lmtk3'
ID |
441733 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lmtk3
|
Ensembl Gene |
ENSMUSG00000062044 |
Gene Name |
lemur tyrosine kinase 3 |
Synonyms |
AATYK3, Aatyk3 |
MMRRC Submission |
043163-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.554)
|
Stock # |
R5624 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
45433162-45453568 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 45436286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 114
(A114E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148041
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072580]
[ENSMUST00000120005]
[ENSMUST00000211609]
[ENSMUST00000209617]
[ENSMUST00000209701]
[ENSMUST00000209739]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072580
AA Change: A88E
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000072388 Gene: ENSMUSG00000062044 AA Change: A88E
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 damaging
Transcript: ENSMUST00000118564
AA Change: A114E
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113323 Gene: ENSMUSG00000062044 AA Change: A114E
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 damaging
Transcript: ENSMUST00000120005
AA Change: A88E
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112592 Gene: ENSMUSG00000062044 AA Change: A88E
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: ENSMUST00000123585
AA Change: A88E
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000121551 Gene: ENSMUSG00000062044 AA Change: A88E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133428
AA Change: A88E
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000122932 Gene: ENSMUSG00000062044 AA Change: A88E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
transmembrane domain
|
39 |
61 |
N/A |
INTRINSIC |
Pfam:Pkinase
|
133 |
203 |
2.3e-6 |
PFAM |
Pfam:Pkinase_Tyr
|
133 |
203 |
4.6e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134347
AA Change: A195E
|
Predicted Effect |
not run
Transcript: ENSMUST00000143894
AA Change: A27E
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211609
AA Change: A88E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209617
AA Change: A114E
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209701
AA Change: A88E
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210021
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211127
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209739
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211309
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211779
|
Meta Mutation Damage Score |
0.1126 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (47/48) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adad2 |
T |
A |
8: 120,341,844 (GRCm39) |
|
probably null |
Het |
Aoah |
A |
T |
13: 21,179,649 (GRCm39) |
N372I |
probably damaging |
Het |
Ash1l |
T |
A |
3: 88,892,916 (GRCm39) |
D1598E |
probably damaging |
Het |
Bcas2 |
T |
C |
3: 103,080,577 (GRCm39) |
C72R |
probably benign |
Het |
Car9 |
T |
A |
4: 43,509,146 (GRCm39) |
F238Y |
probably benign |
Het |
Ccnd1 |
T |
C |
7: 144,491,749 (GRCm39) |
S97G |
probably benign |
Het |
Cfap52 |
C |
G |
11: 67,818,184 (GRCm39) |
C509S |
possibly damaging |
Het |
Clcn4 |
C |
A |
7: 7,291,943 (GRCm39) |
V623L |
probably benign |
Het |
Dnajc11 |
T |
C |
4: 152,063,967 (GRCm39) |
V483A |
probably benign |
Het |
E2f8 |
G |
T |
7: 48,527,709 (GRCm39) |
D144E |
probably damaging |
Het |
Epb41l1 |
G |
A |
2: 156,375,691 (GRCm39) |
|
probably benign |
Het |
Fam186a |
A |
C |
15: 99,839,628 (GRCm39) |
H2205Q |
possibly damaging |
Het |
Fhit |
A |
G |
14: 10,421,534 (GRCm38) |
S85P |
probably damaging |
Het |
Fzd8 |
G |
A |
18: 9,213,268 (GRCm39) |
G117S |
unknown |
Het |
Gsdmc4 |
A |
G |
15: 63,764,503 (GRCm39) |
M379T |
possibly damaging |
Het |
Hemk1 |
T |
C |
9: 107,208,727 (GRCm39) |
R157G |
probably benign |
Het |
Il10 |
A |
G |
1: 130,951,940 (GRCm39) |
M158V |
probably benign |
Het |
Jmjd1c |
G |
A |
10: 67,069,193 (GRCm39) |
M1656I |
probably damaging |
Het |
Kit |
A |
T |
5: 75,770,054 (GRCm39) |
K155N |
probably benign |
Het |
Lztr1 |
A |
G |
16: 17,329,993 (GRCm39) |
|
probably benign |
Het |
Mras |
A |
G |
9: 99,293,538 (GRCm39) |
F34S |
probably damaging |
Het |
Myo1c |
A |
G |
11: 75,553,461 (GRCm39) |
T516A |
probably damaging |
Het |
Nme8 |
A |
C |
13: 19,862,038 (GRCm39) |
V197G |
possibly damaging |
Het |
Or13p5 |
T |
A |
4: 118,592,568 (GRCm39) |
Y281N |
probably damaging |
Het |
Or8k39 |
T |
C |
2: 86,563,149 (GRCm39) |
D269G |
probably benign |
Het |
Pcdhb9 |
A |
T |
18: 37,534,459 (GRCm39) |
Y151F |
probably benign |
Het |
Pcnx2 |
C |
T |
8: 126,488,262 (GRCm39) |
|
probably null |
Het |
Plekhg4 |
T |
C |
8: 106,107,382 (GRCm39) |
F892S |
probably damaging |
Het |
Prmt3 |
T |
A |
7: 49,430,082 (GRCm39) |
F62I |
probably damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,659,523 (GRCm39) |
Y1999C |
probably damaging |
Het |
Rims2 |
A |
T |
15: 39,208,809 (GRCm39) |
Q204L |
possibly damaging |
Het |
Slc6a16 |
T |
G |
7: 44,910,532 (GRCm39) |
H352Q |
probably benign |
Het |
Snx9 |
T |
A |
17: 5,942,084 (GRCm39) |
C70* |
probably null |
Het |
Srprb |
A |
G |
9: 103,074,800 (GRCm39) |
I114T |
probably damaging |
Het |
Tas2r119 |
A |
T |
15: 32,178,114 (GRCm39) |
I227F |
probably damaging |
Het |
Tasor2 |
A |
G |
13: 3,634,996 (GRCm39) |
S604P |
possibly damaging |
Het |
Tg |
A |
T |
15: 66,709,906 (GRCm39) |
Y163F |
probably benign |
Het |
Tm2d2 |
A |
G |
8: 25,512,784 (GRCm39) |
T211A |
probably damaging |
Het |
Tmem132b |
A |
G |
5: 125,699,710 (GRCm39) |
S83G |
probably benign |
Het |
Trav9-4 |
T |
C |
14: 53,913,886 (GRCm39) |
S47P |
probably benign |
Het |
Vmn2r8 |
T |
A |
5: 108,950,325 (GRCm39) |
H174L |
probably damaging |
Het |
Xrcc1 |
A |
G |
7: 24,259,270 (GRCm39) |
D85G |
possibly damaging |
Het |
Zfp106 |
C |
G |
2: 120,362,438 (GRCm39) |
A34P |
probably damaging |
Het |
Zfp608 |
A |
T |
18: 55,031,344 (GRCm39) |
N865K |
probably damaging |
Het |
Zscan5b |
A |
G |
7: 6,233,518 (GRCm39) |
D114G |
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 |
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'- TTTGGGATGCGCACACTAGC -3'
(R):5'- TTACTTCCACGAATCTAGGGCTC -3'
Sequencing Primer
(F):5'- CACACTAGCGGAAATTGGGCTG -3'
(R):5'- ACGAATCTAGGGCTCTGCATTCTG -3'
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Posted On |
2016-11-08 |