Mutagenetix > Incidental Mutations

Incidental Mutation 'R7353:Lmtk3'

570738

Institutional Source

Beutler Lab

Gene Symbol

Lmtk3

Ensembl Gene

ENSMUSG00000062044

Gene Name

lemur tyrosine kinase 3

Synonyms

AATYK3, Aatyk3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.452) question?

Stock #

R7353 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45783738-45804144 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45788000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 205 (I205F)

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

possibly damaging
Transcript: ENSMUST00000072580
AA Change: I179F

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072388
Gene: ENSMUSG00000062044
AA Change: I179F

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: ENSMUST00000120005
AA Change: I179F

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112592
Gene: ENSMUSG00000062044
AA Change: I179F

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

possibly damaging
Transcript: ENSMUST00000209617
AA Change: I205F

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000209701
AA Change: I179F

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000209739

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211127
AA Change: I35F

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000211609

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	A	13: 119,488,178	A11S	unknown	Het
Aadacl4	G	A	4: 144,617,920	V89I	probably damaging	Het
Abcc9	T	A	6: 142,601,005	I1369F	probably damaging	Het
Adgrf3	T	A	5: 30,198,497	I427F	probably damaging	Het
Alox12e	T	C	11: 70,321,435	Y139C	probably damaging	Het
Arhgef2	T	A	3: 88,635,686	V397E	possibly damaging	Het
Arhgef28	T	A	13: 98,075,202	Y91F	probably damaging	Het
Bcar3	A	G	3: 122,512,692	T454A	probably benign	Het
Bicc1	G	T	10: 70,947,900	T469K	probably benign	Het
Boc	C	T	16: 44,485,737	V1070M	unknown	Het
Ccdc88a	T	A	11: 29,463,368	N635K	probably benign	Het
Ccr2	T	C	9: 124,106,756	S358P	probably damaging	Het
Ccser2	T	C	14: 36,941,143	Q28R	possibly damaging	Het
Cenpf	T	A	1: 189,654,138	K1982*	probably null	Het
Csn1s2a	A	T	5: 87,785,302	I137F	possibly damaging	Het
Cttnbp2	A	T	6: 18,375,944	I1532K	possibly damaging	Het
Dnajc13	C	A	9: 104,230,031	R304L	possibly damaging	Het
Dopey1	T	A	9: 86,512,859	M664K	probably damaging	Het
Emilin3	T	A	2: 160,908,821	E336V	probably damaging	Het
Eml5	A	G	12: 98,825,424	Y63H		Het
Fbxo41	G	T	6: 85,479,976	R404S	possibly damaging	Het
Gm8897	G	A	5: 11,416,436	D7N	possibly damaging	Het
Gpr155	A	T	2: 73,367,491	Y456*	probably null	Het
Gpr156	T	A	16: 37,992,161	N286K	probably damaging	Het
Kcna5	A	G	6: 126,534,845	S107P	probably benign	Het
Kcne2	A	T	16: 92,296,822	H79L	possibly damaging	Het
Kcnh4	T	A	11: 100,757,199	M113L	probably benign	Het
Lad1	T	A	1: 135,827,775	L263Q	probably damaging	Het
Lctl	G	A	9: 64,126,967	G296D	probably damaging	Het
Magel2	G	T	7: 62,379,331	R661L	unknown	Het
Mcm10	G	A	2: 5,007,109	P180S	possibly damaging	Het
Mia3	G	T	1: 183,327,392	A446D		Het
N4bp2	G	A	5: 65,806,371	V588M	probably benign	Het
Naip6	C	T	13: 100,299,751	V755M	probably benign	Het
Neurl1a	T	C	19: 47,240,660	V213A	probably damaging	Het
Nrd1	A	G	4: 109,039,749	T522A	probably damaging	Het
Ntng1	T	C	3: 110,135,447	Q21R	probably damaging	Het
Nup160	T	C	2: 90,703,952	L707S	probably damaging	Het
Oas2	A	T	5: 120,738,522	V452D	probably damaging	Het
Olfr3	A	G	2: 36,812,903	L63P	probably damaging	Het
Olfr350	A	T	2: 36,850,069	M8L	probably benign	Het
Olfr351	G	A	2: 36,859,668	R227*	probably null	Het
Olfr519	A	G	7: 108,894,222	F67L	probably damaging	Het
Olfr593	A	C	7: 103,212,309	T150P	probably damaging	Het
Plekhg1	A	T	10: 3,964,327	T1405S		Het
Pnrc1	G	A	4: 33,248,300	P33L	probably damaging	Het
Prkag2	A	T	5: 24,880,686	V312E	possibly damaging	Het
Rps17	T	A	7: 81,344,345	E76V	possibly damaging	Het
Rsph10b	G	A	5: 143,967,220	G672S	possibly damaging	Het
Slc2a13	T	C	15: 91,321,604	N460S	probably benign	Het
Slco2b1	A	T	7: 99,690,557	C56S	possibly damaging	Het
Spn	T	C	7: 127,137,006	T110A	probably benign	Het
Sult2a8	T	C	7: 14,413,715	N217S	possibly damaging	Het
Tbx2	C	A	11: 85,833,489	T128N	probably damaging	Het
Tecpr2	A	T	12: 110,967,844	M1313L	probably benign	Het
Tmc2	G	A	2: 130,196,577		probably null	Het
Tstd1	G	T	1: 171,419,955	A69S	probably damaging	Het
Txnrd3	A	G	6: 89,661,585	D252G	probably benign	Het
Ulk2	T	C	11: 61,819,348	N345D	probably damaging	Het
Unc13c	T	C	9: 73,574,073	D1694G	probably benign	Het
Vill	T	C	9: 119,065,493	V406A	probably damaging	Het
Vmn2r115	T	C	17: 23,345,913	V258A	possibly damaging	Het
Vmn2r82	T	A	10: 79,396,618	M817K	probably benign	Het
Xpnpep3	T	C	15: 81,430,887	S263P	probably benign	Het
Zfp980	A	G	4: 145,702,144	D481G	probably benign	Het
Zmpste24	A	G	4: 121,095,581	S81P	probably damaging	Het
Znrf4	A	G	17: 56,512,169	V46A	probably benign	Het

Other mutations in Lmtk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01365:Lmtk3	APN	7	45790907	missense	probably damaging	1.00
IGL01996:Lmtk3	APN	7	45793447	splice site	probably null
IGL02146:Lmtk3	APN	7	45794947	unclassified	probably benign
IGL02192:Lmtk3	APN	7	45794509	unclassified	probably benign
IGL02598:Lmtk3	APN	7	45793140	missense	probably damaging	1.00
BB006:Lmtk3	UTSW	7	45795148	missense	unknown
BB016:Lmtk3	UTSW	7	45795148	missense	unknown
R0469:Lmtk3	UTSW	7	45794112	missense	possibly damaging	0.95
R0510:Lmtk3	UTSW	7	45794112	missense	possibly damaging	0.95
R0603:Lmtk3	UTSW	7	45795556	unclassified	probably benign
R0781:Lmtk3	UTSW	7	45795003	unclassified	probably benign
R1110:Lmtk3	UTSW	7	45795003	unclassified	probably benign
R1270:Lmtk3	UTSW	7	45793828	missense	probably damaging	0.96
R1535:Lmtk3	UTSW	7	45794570	unclassified	probably benign
R1666:Lmtk3	UTSW	7	45794164	missense	probably benign	0.03
R1807:Lmtk3	UTSW	7	45793278	missense	probably benign	0.02
R1883:Lmtk3	UTSW	7	45786849	missense	probably damaging	1.00
R2060:Lmtk3	UTSW	7	45800911	critical splice acceptor site	probably null
R2107:Lmtk3	UTSW	7	45793969	missense	possibly damaging	0.56
R2214:Lmtk3	UTSW	7	45794853	unclassified	probably benign
R2369:Lmtk3	UTSW	7	45795088	unclassified	probably benign
R4084:Lmtk3	UTSW	7	45793292	missense	probably damaging	0.97
R4246:Lmtk3	UTSW	7	45794062	missense	possibly damaging	0.75
R4247:Lmtk3	UTSW	7	45794062	missense	possibly damaging	0.75
R4249:Lmtk3	UTSW	7	45794062	missense	possibly damaging	0.75
R4250:Lmtk3	UTSW	7	45794062	missense	possibly damaging	0.75
R4587:Lmtk3	UTSW	7	45794080	missense	possibly damaging	0.92
R5026:Lmtk3	UTSW	7	45794412	unclassified	probably benign
R5275:Lmtk3	UTSW	7	45791298	missense	probably damaging	1.00
R5295:Lmtk3	UTSW	7	45791298	missense	probably damaging	1.00
R5624:Lmtk3	UTSW	7	45786862	missense	probably damaging	0.96
R5688:Lmtk3	UTSW	7	45791410	missense	probably damaging	1.00
R6478:Lmtk3	UTSW	7	45798589	missense	unknown
R6737:Lmtk3	UTSW	7	45793627	missense	probably damaging	0.99
R6800:Lmtk3	UTSW	7	45793809	missense	possibly damaging	0.91
R6856:Lmtk3	UTSW	7	45794297	unclassified	probably benign
R7319:Lmtk3	UTSW	7	45794316	missense	unknown
R7335:Lmtk3	UTSW	7	45795157	missense	unknown
R7621:Lmtk3	UTSW	7	45793417	missense	probably damaging	1.00
R7699:Lmtk3	UTSW	7	45792574	missense	probably damaging	1.00
R7700:Lmtk3	UTSW	7	45792574	missense	probably damaging	1.00
R7836:Lmtk3	UTSW	7	45786903	missense	possibly damaging	0.89
R7929:Lmtk3	UTSW	7	45795148	missense	unknown
R7951:Lmtk3	UTSW	7	45785606	missense	probably benign	0.01
R7976:Lmtk3	UTSW	7	45795466	missense	unknown
R8128:Lmtk3	UTSW	7	45794174	missense
R8678:Lmtk3	UTSW	7	45786551	nonsense	probably null
R8732:Lmtk3	UTSW	7	45798288	missense	unknown
R9052:Lmtk3	UTSW	7	45800939	missense	unknown
R9335:Lmtk3	UTSW	7	45792741	missense	probably damaging	1.00
R9356:Lmtk3	UTSW	7	45793888	missense	probably damaging	0.96
R9432:Lmtk3	UTSW	7	45792570	missense	probably damaging	1.00
X0052:Lmtk3	UTSW	7	45793498	missense	probably benign	0.03
X0067:Lmtk3	UTSW	7	45794680	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ATTCTGGGCCTGTGAGTCTC -3'
(R):5'- TGCTCTTAACTGCTGCTGGG -3'

Sequencing Primer
(F):5'- CTCACTCCGTGTCTGGTAGG -3'
(R):5'- ATACCAGGTTCAGAGTCCTGG -3'

Posted On

2019-09-13