Incidental Mutation 'R8678:Lmtk3'
| ID |
661516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lmtk3
|
| Ensembl Gene |
ENSMUSG00000062044 |
| Gene Name |
lemur tyrosine kinase 3 |
| Synonyms |
AATYK3, Aatyk3 |
| MMRRC Submission |
068533-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.554)
|
| Stock # |
R8678 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45433162-45453568 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 45435975 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 85
(C85*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148041
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072580]
[ENSMUST00000120005]
[ENSMUST00000209617]
[ENSMUST00000209701]
[ENSMUST00000209739]
[ENSMUST00000211609]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000072580
AA Change: C59*
|
| SMART Domains |
Protein: ENSMUSP00000072388
Gene: ENSMUSG00000062044
AA Change: C59*
| 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 null
Transcript: ENSMUST00000120005
AA Change: C59*
|
| SMART Domains |
Protein: ENSMUSP00000112592
Gene: ENSMUSG00000062044
AA Change: C59*
| 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 null
Transcript: ENSMUST00000209617
AA Change: C85*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209701
AA Change: C59*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209739
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211127
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211609
AA Change: C59*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.7%
|
| Validation Efficiency |
99% (69/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
C |
T |
16: 20,184,685 (GRCm39) |
M991I |
probably benign |
Het |
| Acacb |
T |
A |
5: 114,340,032 (GRCm39) |
Y814* |
probably null |
Het |
| Alg2 |
A |
G |
4: 47,474,108 (GRCm39) |
F60S |
probably damaging |
Het |
| Aoc1l1 |
C |
T |
6: 48,953,158 (GRCm39) |
T361I |
possibly damaging |
Het |
| Arc |
A |
G |
15: 74,543,539 (GRCm39) |
L228P |
probably damaging |
Het |
| Bnip1 |
T |
A |
17: 27,008,923 (GRCm39) |
|
probably benign |
Het |
| Cacng4 |
A |
G |
11: 107,625,925 (GRCm39) |
L222P |
probably damaging |
Het |
| Calb2 |
A |
T |
8: 110,874,275 (GRCm39) |
V182E |
possibly damaging |
Het |
| Cfap44 |
A |
T |
16: 44,295,636 (GRCm39) |
I1645F |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,811,551 (GRCm39) |
D656G |
unknown |
Het |
| Csmd3 |
A |
G |
15: 47,499,849 (GRCm39) |
S2096P |
|
Het |
| Cyp2c70 |
A |
T |
19: 40,156,016 (GRCm39) |
I178N |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,004,759 (GRCm39) |
Q936* |
probably null |
Het |
| Dnaaf3 |
A |
T |
7: 4,533,814 (GRCm39) |
F94Y |
probably damaging |
Het |
| Eid2b |
C |
T |
7: 27,977,480 (GRCm39) |
T92I |
possibly damaging |
Het |
| Ercc8 |
T |
C |
13: 108,306,027 (GRCm39) |
|
probably null |
Het |
| Fank1 |
G |
A |
7: 133,463,957 (GRCm39) |
|
probably null |
Het |
| Fbxw19 |
C |
A |
9: 109,312,376 (GRCm39) |
E324* |
probably null |
Het |
| Fcnb |
A |
G |
2: 27,968,361 (GRCm39) |
F199L |
possibly damaging |
Het |
| Galnt16 |
A |
G |
12: 80,630,822 (GRCm39) |
D300G |
probably damaging |
Het |
| Gli1 |
T |
C |
10: 127,173,260 (GRCm39) |
S133G |
probably null |
Het |
| Ighv5-8 |
TATACAT |
TAT |
12: 113,618,583 (GRCm39) |
|
probably benign |
Het |
| Irak4 |
A |
G |
15: 94,464,666 (GRCm39) |
D412G |
probably benign |
Het |
| Klhl20 |
A |
T |
1: 160,936,997 (GRCm39) |
I126N |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,124,098 (GRCm39) |
E2841G |
|
Het |
| Madd |
T |
C |
2: 91,006,610 (GRCm39) |
Y328C |
probably damaging |
Het |
| Map1a |
G |
T |
2: 121,137,737 (GRCm39) |
R2851L |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,752,955 (GRCm39) |
D766G |
probably damaging |
Het |
| Mei4 |
T |
A |
9: 81,809,638 (GRCm39) |
F240L |
probably damaging |
Het |
| Mgat3 |
A |
T |
15: 80,096,472 (GRCm39) |
Y433F |
possibly damaging |
Het |
| Muc20 |
T |
A |
16: 32,617,789 (GRCm39) |
|
probably benign |
Het |
| Nat8f1 |
A |
G |
6: 85,887,738 (GRCm39) |
V74A |
probably benign |
Het |
| Nfe2l3 |
A |
G |
6: 51,435,153 (GRCm39) |
D571G |
possibly damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Nphs1 |
T |
C |
7: 30,163,284 (GRCm39) |
L480S |
probably damaging |
Het |
| Nr1d1 |
G |
C |
11: 98,660,073 (GRCm39) |
R484G |
probably damaging |
Het |
| Or2ag2 |
A |
G |
7: 106,485,280 (GRCm39) |
V248A |
probably damaging |
Het |
| Or4c122 |
T |
A |
2: 89,079,351 (GRCm39) |
Y217F |
probably damaging |
Het |
| Or8j3b |
C |
T |
2: 86,205,069 (GRCm39) |
R229H |
probably benign |
Het |
| Parp10 |
C |
A |
15: 76,117,599 (GRCm39) |
C929F |
probably damaging |
Het |
| Pcdhb21 |
A |
G |
18: 37,647,939 (GRCm39) |
E356G |
probably damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,623,468 (GRCm39) |
R600* |
probably null |
Het |
| Ppp1r13l |
C |
A |
7: 19,109,697 (GRCm39) |
T706K |
probably benign |
Het |
| Ppp1r16b |
G |
A |
2: 158,593,098 (GRCm39) |
D226N |
probably damaging |
Het |
| Ppp1r16b |
G |
A |
2: 158,598,942 (GRCm39) |
R334Q |
probably damaging |
Het |
| Ppp1r7 |
A |
G |
1: 93,280,364 (GRCm39) |
Q188R |
probably benign |
Het |
| Pramel26 |
C |
A |
4: 143,538,576 (GRCm39) |
A132S |
probably benign |
Het |
| Prkdc |
G |
T |
16: 15,526,796 (GRCm39) |
|
probably null |
Het |
| Prss33 |
T |
C |
17: 24,053,723 (GRCm39) |
D118G |
probably benign |
Het |
| Rab3gap2 |
T |
G |
1: 184,983,281 (GRCm39) |
I473M |
probably damaging |
Het |
| Rbm44 |
A |
G |
1: 91,080,103 (GRCm39) |
E97G |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,963,998 (GRCm39) |
M1775T |
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,776,489 (GRCm39) |
M2216L |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,574,041 (GRCm39) |
|
probably benign |
Het |
| Slc31a2 |
G |
A |
4: 62,210,896 (GRCm39) |
V12M |
probably benign |
Het |
| Slc35b1 |
T |
C |
11: 95,278,646 (GRCm39) |
Y177H |
probably damaging |
Het |
| Slfn9 |
T |
A |
11: 82,872,370 (GRCm39) |
M789L |
probably benign |
Het |
| Srf |
A |
G |
17: 46,861,825 (GRCm39) |
|
probably null |
Het |
| Tank |
A |
G |
2: 61,457,287 (GRCm39) |
E81G |
probably damaging |
Het |
| Tia1 |
T |
A |
6: 86,402,685 (GRCm39) |
M241K |
probably benign |
Het |
| Tiam1 |
G |
T |
16: 89,681,709 (GRCm39) |
S423* |
probably null |
Het |
| Tubg1 |
T |
G |
11: 101,015,264 (GRCm39) |
S237A |
probably benign |
Het |
| Ubash3b |
G |
A |
9: 40,942,785 (GRCm39) |
P358S |
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,166,896 (GRCm39) |
E745G |
possibly damaging |
Het |
| Vmn2r4 |
T |
A |
3: 64,314,391 (GRCm39) |
I197F |
probably benign |
Het |
| Vps37d |
C |
A |
5: 135,105,386 (GRCm39) |
R79L |
probably damaging |
Het |
| Wdr7 |
T |
A |
18: 63,910,768 (GRCm39) |
L720Q |
probably damaging |
Het |
| Xkr5 |
T |
C |
8: 18,984,048 (GRCm39) |
N498S |
probably benign |
Het |
| Zc2hc1c |
A |
T |
12: 85,337,084 (GRCm39) |
E247V |
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 |
|
|
|
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'- ATACGTTAGACCACCTGGCTCC -3'
(R):5'- TTCAGTCCACAGACCTGTCC -3'
Sequencing Primer
(F):5'- TTGTAGTCCAAGACTAGCCTAGG -3'
(R):5'- GACCTGTCCCTCAAATCCCAG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation