Mutagenetix > Incidental Mutation

Incidental Mutation 'R1535:Lmtk3'

166892

Institutional Source

Beutler Lab

Gene Symbol

Lmtk3

Ensembl Gene

ENSMUSG00000062044

Gene Name

lemur tyrosine kinase 3

Synonyms

AATYK3, Aatyk3

MMRRC Submission

039574-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.554) question?

Stock #

R1535 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

45433162-45453568 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 45443994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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: D866E

SMART Domains

Protein: ENSMUSP00000072388
Gene: ENSMUSG00000062044
AA Change: D866E

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: ENSMUST00000118564
AA Change: D892E

SMART Domains

Protein: ENSMUSP00000113323
Gene: ENSMUSG00000062044
AA Change: D892E

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

unknown
Transcript: ENSMUST00000120005
AA Change: D866E

SMART Domains

Protein: ENSMUSP00000112592
Gene: ENSMUSG00000062044
AA Change: D866E

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: D892E

Predicted Effect

probably benign
Transcript: ENSMUST00000209701

Predicted Effect

probably benign
Transcript: ENSMUST00000211127

Meta Mutation Damage Score

0.0605

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

100% (75/75)

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
3110009E18Rik	T	C	1: 120,099,203 (GRCm39)	S99P	possibly damaging	Het
Abca16	T	A	7: 120,139,928 (GRCm39)	I1530N	probably benign	Het
Abcc9	T	G	6: 142,610,361 (GRCm39)	Q601P	probably damaging	Het
Acap3	A	G	4: 155,980,631 (GRCm39)		probably benign	Het
Adamts16	A	T	13: 70,939,913 (GRCm39)		probably null	Het
Alpk2	G	C	18: 65,483,275 (GRCm39)	S244R	probably benign	Het
Aoc1l1	T	C	6: 48,952,398 (GRCm39)	F108L	probably damaging	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
Bend5	C	A	4: 111,316,960 (GRCm39)	D374E	probably benign	Het
Catsperg2	T	C	7: 29,397,671 (GRCm39)	D1014G	possibly damaging	Het
Ccer2	G	T	7: 28,456,822 (GRCm39)	G189*	probably null	Het
Ces2h	A	G	8: 105,741,118 (GRCm39)	T37A	probably benign	Het
Cfap68	C	T	9: 50,675,307 (GRCm39)	R40Q	probably damaging	Het
Cmah	T	C	13: 24,623,203 (GRCm39)	F213L	probably damaging	Het
Cntn2	T	C	1: 132,453,122 (GRCm39)	E390G	probably benign	Het
Coq7	C	T	7: 118,128,897 (GRCm39)	R46Q	possibly damaging	Het
Cpb1	T	A	3: 20,320,451 (GRCm39)	D136V	probably benign	Het
Cxcr2	T	C	1: 74,198,217 (GRCm39)	L237P	probably damaging	Het
Daam1	T	C	12: 71,998,692 (GRCm39)	L549P	unknown	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Dis3	G	T	14: 99,316,862 (GRCm39)	Q825K	probably damaging	Het
Dnah11	C	T	12: 117,982,465 (GRCm39)	R2568Q	probably damaging	Het
Dnah12	A	T	14: 26,538,279 (GRCm39)	R2312S	possibly damaging	Het
Dock9	C	T	14: 121,783,476 (GRCm39)	E2041K	probably damaging	Het
Eci1	A	G	17: 24,658,064 (GRCm39)	E282G	probably benign	Het
Egf	T	A	3: 129,484,427 (GRCm39)	T464S	probably benign	Het
Eif4g3	C	T	4: 137,824,613 (GRCm39)	P97S	probably damaging	Het
Emsy	A	G	7: 98,242,944 (GRCm39)	V1065A	possibly damaging	Het
Ep400	G	T	5: 110,856,032 (GRCm39)		probably benign	Het
Fam13a	A	C	6: 58,916,332 (GRCm39)	I607S	probably damaging	Het
Fam241b	A	G	10: 61,944,728 (GRCm39)	S113P	probably damaging	Het
Fbxl21	A	T	13: 56,671,340 (GRCm39)	M1L	probably benign	Het
Fnip2	C	A	3: 79,389,072 (GRCm39)	C553F	probably damaging	Het
Frmd3	G	T	4: 73,931,995 (GRCm39)		probably benign	Het
Grm4	G	A	17: 27,653,775 (GRCm39)	S470L	probably benign	Het
Gucy2e	T	A	11: 69,117,070 (GRCm39)	I784F	probably damaging	Het
H1f10	T	C	6: 87,958,130 (GRCm39)	Y70C	probably damaging	Het
Hmcn2	A	T	2: 31,310,419 (GRCm39)	T3338S	possibly damaging	Het
Idh1	C	T	1: 65,207,697 (GRCm39)	G161R	probably damaging	Het
Idi1	T	C	13: 8,936,945 (GRCm39)		probably benign	Het
Idi2l	A	T	13: 8,990,680 (GRCm39)		probably benign	Het
Kcnq2	C	T	2: 180,776,618 (GRCm39)	G90S	probably damaging	Het
Klhl29	A	G	12: 5,134,486 (GRCm39)	Y642H	probably damaging	Het
Macf1	A	T	4: 123,334,486 (GRCm39)	F4420I	probably benign	Het
Me1	A	G	9: 86,469,096 (GRCm39)	S470P	probably damaging	Het
Mfsd2b	A	G	12: 4,920,605 (GRCm39)	S71P	probably damaging	Het
Mfsd3	T	C	15: 76,586,979 (GRCm39)	L273P	probably damaging	Het
Mical1	A	G	10: 41,361,207 (GRCm39)	K757R	possibly damaging	Het
Myh9	A	T	15: 77,662,013 (GRCm39)	V782D	probably damaging	Het
Nab2	C	G	10: 127,500,916 (GRCm39)	E59Q	probably damaging	Het
Nfyc	A	T	4: 120,618,921 (GRCm39)	N244K	probably damaging	Het
Nupr2	A	G	5: 129,937,672 (GRCm39)	I80M	probably damaging	Het
Or4c15b	T	C	2: 89,113,401 (GRCm39)	I46M	probably benign	Het
Or51f1d	A	G	7: 102,700,576 (GRCm39)	T24A	probably benign	Het
Or5a1	A	G	19: 12,097,696 (GRCm39)	C115R	probably damaging	Het
Pkn3	A	G	2: 29,977,065 (GRCm39)	T602A	probably benign	Het
Prrc2b	T	A	2: 32,094,301 (GRCm39)	V561D	probably benign	Het
Psd2	T	A	18: 36,138,843 (GRCm39)	V489E	probably benign	Het
Rasal2	T	C	1: 157,057,629 (GRCm39)	T181A	probably benign	Het
Serpinb13	T	C	1: 106,909,886 (GRCm39)	M1T	probably null	Het
Sgsm1	A	T	5: 113,411,135 (GRCm39)	S864T	possibly damaging	Het
Slc5a10	C	A	11: 61,564,767 (GRCm39)	G404V	possibly damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Son	A	G	16: 91,456,622 (GRCm39)	K1790E	probably damaging	Het
Spata31e5	T	C	1: 28,816,505 (GRCm39)	E509G	probably damaging	Het
Syde2	A	G	3: 145,708,176 (GRCm39)		probably benign	Het
Tmem126a	T	C	7: 90,102,026 (GRCm39)	I58V	probably benign	Het
Vmn2r8	T	C	5: 108,950,040 (GRCm39)	Y269C	probably damaging	Het
Wdr87-ps	C	T	7: 29,229,004 (GRCm39)		noncoding transcript	Het
Yeats2	T	A	16: 20,008,115 (GRCm39)	S416T	probably damaging	Het
Zfp40	A	T	17: 23,394,843 (GRCm39)	H513Q	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
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
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'- CAGAGGACGACTCTTCCTTGCG -3'
(R):5'- AAGGCTCCTGCTGGGGACTTTC -3'

Sequencing Primer
(F):5'- GAGTTTCTGGACCCCCTTATGG -3'
(R):5'- CTTCCTGCTGACCAGGGATG -3'

Posted On

2014-04-13