Mutagenetix > Incidental Mutation

Incidental Mutation 'R5026:Lmtk3'

391348

Institutional Source

Beutler Lab

Gene Symbol

Lmtk3

Ensembl Gene

ENSMUSG00000062044

Gene Name

lemur tyrosine kinase 3

Synonyms

AATYK3, Aatyk3

MMRRC Submission

042617-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.554) question?

Stock #

R5026 (G1)

Quality Score

103

Status

Not validated

Chromosome

Chromosomal Location

45433162-45453568 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 45443836 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: G814R

SMART Domains

Protein: ENSMUSP00000072388
Gene: ENSMUSG00000062044
AA Change: G814R

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: G840R

SMART Domains

Protein: ENSMUSP00000113323
Gene: ENSMUSG00000062044
AA Change: G840R

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: G814R

SMART Domains

Protein: ENSMUSP00000112592
Gene: ENSMUSG00000062044
AA Change: G814R

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: G840R

Predicted Effect

probably benign
Transcript: ENSMUST00000209701

Predicted Effect

probably benign
Transcript: ENSMUST00000211127

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 90.7%

Validation Efficiency

96% (88/92)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,356,383 (GRCm39)	N608S	probably benign	Het
Actg1	T	C	11: 120,237,784 (GRCm39)	N7S	probably damaging	Het
Adamtsl3	T	A	7: 82,225,262 (GRCm39)	L357Q	probably benign	Het
Ahnak	A	T	19: 8,987,995 (GRCm39)	Q3093L	possibly damaging	Het
Ankrd16	T	A	2: 11,794,692 (GRCm39)	V359E	probably benign	Het
Ankrd40	T	C	11: 94,230,550 (GRCm39)		probably benign	Het
Ano10	G	A	9: 122,101,625 (GRCm39)	Q49*	probably null	Het
Aoah	A	T	13: 21,099,129 (GRCm39)	D236V	probably damaging	Het
Bin1	T	C	18: 32,552,983 (GRCm39)		probably null	Het
Braf	T	C	6: 39,665,221 (GRCm39)	D49G	probably benign	Het
Brsk1	A	T	7: 4,707,265 (GRCm39)	R273W	probably damaging	Het
C2cd3	T	A	7: 100,109,049 (GRCm39)	M2259K	possibly damaging	Het
Cabp1	T	C	5: 115,313,531 (GRCm39)	N43D	possibly damaging	Het
Ccar2	T	A	14: 70,379,951 (GRCm39)	Q412L	possibly damaging	Het
Cd4	T	C	6: 124,843,583 (GRCm39)	T443A	possibly damaging	Het
Cdh23	T	A	10: 60,140,627 (GRCm39)	I3206F	possibly damaging	Het
Ceacam9	A	T	7: 16,459,122 (GRCm39)		probably null	Het
Chid1	T	C	7: 141,093,749 (GRCm39)	D289G	probably damaging	Het
Chmp6	T	A	11: 119,809,469 (GRCm39)	L196Q	probably damaging	Het
Cog8	A	G	8: 107,775,757 (GRCm39)	S536P	probably benign	Het
Dmxl2	A	T	9: 54,323,960 (GRCm39)	S1141R	probably damaging	Het
Dnah7a	T	G	1: 53,701,657 (GRCm39)	Y166S	probably damaging	Het
Dnah7b	G	T	1: 46,226,523 (GRCm39)	W1318L	probably damaging	Het
Ecd	A	G	14: 20,387,098 (GRCm39)	F212S	probably damaging	Het
Entpd6	A	T	2: 150,605,564 (GRCm39)	S265C	probably damaging	Het
Epb41l2	A	G	10: 25,360,206 (GRCm39)	T523A	possibly damaging	Het
Focad	T	C	4: 88,262,819 (GRCm39)	S939P	unknown	Het
Gjb3	A	T	4: 127,220,280 (GRCm39)	V84D	probably damaging	Het
Gm572	A	T	4: 148,739,301 (GRCm39)	E43V	possibly damaging	Het
Gm6185	T	A	1: 161,052,178 (GRCm39)		noncoding transcript	Het
Gria1	T	A	11: 57,201,522 (GRCm39)	C787S	probably damaging	Het
Grpel2	A	G	18: 61,849,024 (GRCm39)	L162P	probably damaging	Het
Herc1	A	G	9: 66,393,408 (GRCm39)	T4096A	probably benign	Het
Hook3	A	T	8: 26,600,785 (GRCm39)	M41K	probably damaging	Het
Ifit1bl1	T	C	19: 34,571,293 (GRCm39)	Y388C	probably damaging	Het
Ighv3-4	A	G	12: 114,217,382 (GRCm39)	Y70H	probably benign	Het
Itm2c	T	C	1: 85,834,213 (GRCm39)	L176P	probably damaging	Het
Macf1	G	A	4: 123,333,287 (GRCm39)	T2376I	possibly damaging	Het
Map1a	T	G	2: 121,138,019 (GRCm39)	S2660A	possibly damaging	Het
Mmrn2	A	G	14: 34,121,158 (GRCm39)	H676R	probably benign	Het
Nbeal1	A	T	1: 60,276,338 (GRCm39)	K693M	probably damaging	Het
Ndufa13	T	A	8: 70,347,920 (GRCm39)	R49*	probably null	Het
Neb	T	A	2: 52,094,892 (GRCm39)	T1115S	possibly damaging	Het
Nvl	C	T	1: 180,932,720 (GRCm39)	R699H	probably damaging	Het
Or10w1	A	G	19: 13,632,296 (GRCm39)	I163V	probably benign	Het
Or5d47	A	T	2: 87,804,364 (GRCm39)	I215N	probably damaging	Het
Or8b53	A	G	9: 38,667,041 (GRCm39)	D19G	probably benign	Het
Or8d2b	A	T	9: 38,789,195 (GRCm39)	H241L	possibly damaging	Het
Piezo1	G	T	8: 123,213,557 (GRCm39)	D1779E	probably benign	Het
Prl8a9	A	G	13: 27,745,560 (GRCm39)	S77P	probably damaging	Het
Prune2	A	T	19: 17,176,506 (GRCm39)	I2904F	probably damaging	Het
Retreg1	T	A	15: 25,970,214 (GRCm39)	S151T	probably damaging	Het
Rnf213	A	G	11: 119,327,590 (GRCm39)	D1859G	probably damaging	Het
Rnf39	T	C	17: 37,256,426 (GRCm39)	F173L	probably benign	Het
Rspry1	T	A	8: 95,376,931 (GRCm39)	N371K	probably damaging	Het
Samd9l	T	A	6: 3,375,284 (GRCm39)	D659V	possibly damaging	Het
Sez6	T	A	11: 77,859,815 (GRCm39)	F378Y	probably damaging	Het
Slc22a19	G	A	19: 7,651,737 (GRCm39)	T490M	probably benign	Het
Slit2	A	T	5: 48,414,147 (GRCm39)	N917I	probably damaging	Het
Smg1	T	A	7: 117,792,768 (GRCm39)		probably benign	Het
Tes	T	C	6: 17,096,339 (GRCm39)	V24A	probably benign	Het
Tial1	C	T	7: 128,050,120 (GRCm39)	E82K	probably damaging	Het
Tmem94	G	A	11: 115,683,930 (GRCm39)	C750Y	probably damaging	Het
Tmppe	T	A	9: 114,234,887 (GRCm39)	N395K	possibly damaging	Het
Tnn	T	C	1: 159,973,707 (GRCm39)	H220R	probably benign	Het
Trappc10	T	C	10: 78,040,122 (GRCm39)	T610A	possibly damaging	Het
Trmt1l	T	A	1: 151,316,627 (GRCm39)	M196K	probably damaging	Het
Trpv4	T	C	5: 114,760,715 (GRCm39)	*872W	probably null	Het
Ttn	T	C	2: 76,579,353 (GRCm39)	T23847A	probably benign	Het
Ube4b	T	A	4: 149,445,022 (GRCm39)	L440F	probably damaging	Het
Ugt1a5	C	G	1: 88,093,963 (GRCm39)	R64G	probably benign	Het
Unc13c	T	A	9: 73,838,185 (GRCm39)	T889S	possibly damaging	Het
Vmn1r215	C	T	13: 23,260,449 (GRCm39)	T163I	probably benign	Het
Vmn2r16	T	A	5: 109,508,722 (GRCm39)	Y483*	probably null	Het
Wdr47	T	A	3: 108,525,838 (GRCm39)	C120*	probably null	Het
Zc3h6	G	A	2: 128,859,229 (GRCm39)	V1087I	probably benign	Het
Zfp423	T	C	8: 88,507,302 (GRCm39)	H889R	probably damaging	Het
Zfp825	G	T	13: 74,629,196 (GRCm39)	H107N	probably benign	Het
Zfp945	T	C	17: 23,069,859 (GRCm39)	H680R	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
R4587:Lmtk3	UTSW	7	45,443,504 (GRCm39)	missense	possibly damaging	0.92
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'- ACTCTTCCTTGCGTGCAGAG -3'
(R):5'- TAGGAGGTTCTTTGTCACATCC -3'

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

Posted On

2016-06-06