Mutagenetix > Incidental Mutations

Incidental Mutation 'R7836:Lmtk3'

605976

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 essential (E-score: 0.601) question?

Stock #

R7836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45783738-45804144 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 45786903 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 128 (I128L)

Ref Sequence

ENSEMBL: ENSMUSP00000148041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072580] [ENSMUST00000120005] [ENSMUST00000209617] [ENSMUST00000209701] [ENSMUST00000209739] [ENSMUST00000211609]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072580
AA Change: I102L

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072388
Gene: ENSMUSG00000062044
AA Change: I102L

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: I102L

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112592
Gene: ENSMUSG00000062044
AA Change: I102L

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: ENSMUST00000209617
AA Change: I128L

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209701
AA Change: I102L

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000209739

Predicted Effect

probably benign
Transcript: ENSMUST00000211127

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211609
AA Change: I102L

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (76/77)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	G	15: 8,203,757	F1189V	probably damaging	Het
Abcb4	T	G	5: 8,934,203	S644R	probably benign	Het
Adra2a	A	G	19: 54,046,228	E5G	probably benign	Het
Ankrd1	A	T	19: 36,115,522	V201D	possibly damaging	Het
Ano9	A	T	7: 141,103,201	V598E	probably damaging	Het
Apob	T	A	12: 8,001,885	M1150K	possibly damaging	Het
BC005624	A	T	2: 30,974,020	I187N	probably damaging	Het
Ccl9	T	C	11: 83,576,431	E31G	probably benign	Het
Cnnm4	T	A	1: 36,471,938	D82E	probably benign	Het
Coq10b	T	C	1: 55,052,854		probably benign	Het
Cyb561	T	C	11: 105,940,109	N50S	probably benign	Het
Dctn4	G	T	18: 60,546,276	A223S	probably benign	Het
Dysf	A	G	6: 84,137,398	Y1223C	probably damaging	Het
Eed	C	T	7: 89,980,814		probably benign	Het
Eef1g	T	A	19: 8,977,374	V305E	probably benign	Het
Eif4ebp2	C	A	10: 61,434,993	A86S	probably benign	Het
Ermp1	T	C	19: 29,632,388		probably null	Het
Gm5065	A	T	7: 5,359,508	K46M	probably damaging	Het
Hid1	T	C	11: 115,358,995	Y198C	probably damaging	Het
Hoxd1	C	A	2: 74,763,472	A124E	probably benign	Het
Hyal5	G	A	6: 24,891,348	C387Y	probably damaging	Het
Il11	A	G	7: 4,776,000	S103P	probably damaging	Het
Lrrc4b	G	T	7: 44,444,892		probably benign	Het
Magel2	T	A	7: 62,378,368	I340N	possibly damaging	Het
Mfsd14a	A	T	3: 116,648,551	F71I	possibly damaging	Het
Mgarp	A	G	3: 51,389,066	S172P	probably benign	Het
Mug1	T	C	6: 121,870,652		probably null	Het
Naa15	G	T	3: 51,463,267	E651*	probably null	Het
Ndfip2	T	C	14: 105,292,241	V168A	probably benign	Het
Neb	C	A	2: 52,223,361		probably null	Het
Nfil3	A	G	13: 52,967,932	V312A	possibly damaging	Het
Nrap	T	C	19: 56,350,297	I953V	probably benign	Het
Ntrk1	T	A	3: 87,779,734	K706*	probably null	Het
Nuf2	A	T	1: 169,525,329	F36I	probably benign	Het
Olfr259	T	C	2: 87,107,517	Y290C	probably damaging	Het
Olfr573-ps1	T	A	7: 102,941,918	T220S	possibly damaging	Het
Pcdh8	T	G	14: 79,768,661	T821P	possibly damaging	Het
Ppl	C	T	16: 5,088,861	R1190H	probably damaging	Het
Ptch2	C	A	4: 117,105,027		probably null	Het
Ptdss1	A	G	13: 66,933,655	I50V	probably benign	Het
Pth2r	G	T	1: 65,351,563	W292L	probably damaging	Het
Ptprd	G	A	4: 75,982,644	T825M	probably damaging	Het
Ptprk	T	C	10: 28,573,389	Y987H	probably damaging	Het
Qser1	T	C	2: 104,776,234	E1470G	probably damaging	Het
Rab11fip3	T	C	17: 26,068,258	E307G	possibly damaging	Het
Rims2	A	G	15: 39,681,079	Y1484C	probably damaging	Het
Rock1	A	T	18: 10,097,651		probably null	Het
Slc15a1	T	A	14: 121,480,733	K245*	probably null	Het
Snx11	T	A	11: 96,769,206	E219V	possibly damaging	Het
Sox21	C	A	14: 118,235,317	E107*	probably null	Het
Spink5	T	A	18: 43,999,821	H501Q	probably benign	Het
Stard5	C	T	7: 83,636,776	T103M	probably damaging	Het
Stfa2l1	A	T	16: 36,156,833		probably benign	Het
Sult1c1	A	C	17: 53,964,048	V185G	probably damaging	Het
Svs2	A	G	2: 164,237,580	S136P	possibly damaging	Het
Sytl3	T	A	17: 6,715,375		probably null	Het
Tc2n	C	T	12: 101,652,853	V349I	possibly damaging	Het
Tln1	A	G	4: 43,554,309	V271A	probably benign	Het
Tmem260	T	A	14: 48,509,062	S446R	probably benign	Het
Trim30a	T	C	7: 104,435,595	D136G	probably benign	Het
Uhrf1bp1l	C	T	10: 89,816,106	T1381I	probably benign	Het
Ulk4	A	T	9: 121,044,819	I1182N	possibly damaging	Het
Unc50	T	G	1: 37,437,296	I179S	possibly damaging	Het
Upb1	T	A	10: 75,412,833	Y57*	probably null	Het
Usp34	C	T	11: 23,446,614	T2349I		Het
Vmn1r71	A	G	7: 10,748,350	V137A	possibly damaging	Het
Vmn1r85	T	C	7: 13,084,771	I149V	probably benign	Het
Vmn2r118	A	G	17: 55,593,242	L554P	probably damaging	Het
Wdr4	C	G	17: 31,499,808		probably null	Het
Zbbx	A	T	3: 75,078,474	S424T	possibly damaging	Het
Zfp207	C	G	11: 80,391,900	P246A	probably damaging	Het
Zfp414	T	A	17: 33,629,988	Y65*	probably null	Het
Zfp600	T	A	4: 146,196,953	N730K	probably benign	Het
Zfp827	T	C	8: 79,186,350	L1073P	probably damaging	Het
Zfp986	A	G	4: 145,899,121	K117R	possibly damaging	Het
Zgrf1	T	A	3: 127,563,431	Y769N	probably damaging	Het
Zufsp	A	T	10: 33,919,319	I547N	unknown	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
R7353:Lmtk3	UTSW	7	45788000	missense	possibly damaging	0.46
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
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
X0052:Lmtk3	UTSW	7	45793498	missense	probably benign	0.03
X0067:Lmtk3	UTSW	7	45794680	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CACTAGCGGAAATTGGGCTG -3'
(R):5'- TGTGGCTTCCCTGTAAGTTAC -3'

Sequencing Primer
(F):5'- CAGGTCTGTGGACTGAAGG -3'
(R):5'- AGTTACTTCCACGAATCTAGGGC -3'

Posted On

2019-12-20