Mutagenetix > Incidental Mutation

Incidental Mutation 'R2105:Ltk'

230842

Institutional Source

Beutler Lab

Gene Symbol

Ltk

Ensembl Gene

ENSMUSG00000027297

Gene Name

leukocyte tyrosine kinase

Synonyms

MMRRC Submission

040109-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2105 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119751320-119760431 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119752088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 710 (E710G)

Ref Sequence

ENSEMBL: ENSMUSP00000080774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028758] [ENSMUST00000028759] [ENSMUST00000082130] [ENSMUST00000140224] [ENSMUST00000182203]

AlphaFold

P08923

Predicted Effect

probably benign
Transcript: ENSMUST00000028758

SMART Domains

Protein: ENSMUSP00000028758
Gene: ENSMUSG00000027296

Domain	Start	End	E-Value	Type
low complexity region	40	64	N/A	INTRINSIC
low complexity region	116	149	N/A	INTRINSIC
Pfam:IPK	243	454	1.3e-43	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000028759
AA Change: E771G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028759
Gene: ENSMUSG00000027297
AA Change: E771G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Gly_rich	111	381	2.4e-21	PFAM
transmembrane domain	423	445	N/A	INTRINSIC
TyrKc	506	773	2.61e-127	SMART
low complexity region	824	841	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000082130
AA Change: E710G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080774
Gene: ENSMUSG00000027297
AA Change: E710G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Gly_rich	109	294	6.1e-16	PFAM
transmembrane domain	362	384	N/A	INTRINSIC
TyrKc	445	712	2.61e-127	SMART
low complexity region	763	780	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134295

Predicted Effect

probably damaging
Transcript: ENSMUST00000140224
AA Change: E359G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123020
Gene: ENSMUSG00000027297
AA Change: E359G

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
transmembrane domain	111	133	N/A	INTRINSIC
TyrKc	194	461	1.2e-129	SMART
low complexity region	512	529	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182203
AA Change: E459G

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138201
Gene: ENSMUSG00000027297
AA Change: E459G

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
transmembrane domain	111	133	N/A	INTRINSIC
TyrKc	194	461	2.61e-127	SMART
low complexity region	512	529	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the ros/insulin receptor family of tyrosine kinases. Tyrosine-specific phosphorylation of proteins is a key to the control of diverse pathways leading to cell growth and differentiation. Four alternatively spliced transcript variants encoding different isoforms have been described for this gene. These transcripts are expressed in a tissue-specific manner in lymphocytes, brain and neuroblastoma cells, and the encoded isoforms exhibit different subcellular localization. The lymphocyte and brain specific variants initiate translation at non-AUG (CUG) start codons. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,673,500	P1189L	probably benign	Het
Acbd4	G	A	11: 103,104,439	D57N	probably damaging	Het
Acot4	A	T	12: 84,038,742	M78L	probably damaging	Het
Ago1	A	T	4: 126,461,788	M76K	probably benign	Het
Agrn	G	T	4: 156,177,299	Y511*	probably null	Het
Arhgef15	A	T	11: 68,947,681		probably null	Het
Atp1a3	A	T	7: 24,989,853	M594K	probably damaging	Het
Atp4a	G	A	7: 30,720,368		probably null	Het
Bckdk	T	A	7: 127,907,317	I272N	probably damaging	Het
Bod1l	A	G	5: 41,832,279	V367A	probably benign	Het
C1galt1c1	T	C	X: 38,631,268	M284V	possibly damaging	Het
Cenpk	T	A	13: 104,229,597	C4*	probably null	Het
Cfap53	T	C	18: 74,283,223	V9A	possibly damaging	Het
Chil3	T	C	3: 106,160,478	I124V	possibly damaging	Het
Creld2	G	A	15: 88,820,631	W103*	probably null	Het
Cyp2c67	T	C	19: 39,626,237	Y282C	probably benign	Het
D5Ertd579e	C	T	5: 36,613,449	A1201T	probably benign	Het
Dock4	A	G	12: 40,692,989	H381R	probably benign	Het
Drc1	C	T	5: 30,356,441	S447F	probably benign	Het
Fam83g	G	T	11: 61,703,458	R606L	probably benign	Het
Fmnl1	A	C	11: 103,194,692	S688R	probably benign	Het
Fryl	C	T	5: 73,122,299	V219I	probably benign	Het
Gm13101	A	T	4: 143,965,820	Y204N	probably benign	Het
Golgb1	T	A	16: 36,914,664	N1424K	probably benign	Het
Gpr39	T	C	1: 125,677,884	V183A	possibly damaging	Het
H2-T22	A	T	17: 36,040,517	Y274N	probably benign	Het
Hif1a	T	A	12: 73,937,745	Y313N	probably damaging	Het
Hip1r	T	A	5: 124,000,204	M787K	probably damaging	Het
Hipk3	T	C	2: 104,439,392	E484G	probably damaging	Het
Hsh2d	T	A	8: 72,200,646	F291I	probably benign	Het
Ino80	T	C	2: 119,431,929	E692G	probably null	Het
Itgam	T	A	7: 128,081,712	V271D	probably damaging	Het
Kansl1	A	C	11: 104,335,559	I924S	probably damaging	Het
Kcnq2	A	G	2: 181,081,352	C628R	probably benign	Het
Krt78	A	C	15: 101,947,414	V654G	possibly damaging	Het
Lrit2	A	G	14: 37,071,956	T326A	probably damaging	Het
Lysmd1	T	C	3: 95,134,974	L53S	probably damaging	Het
Mc4r	T	C	18: 66,859,598	Y148C	probably damaging	Het
Mfn2	G	A	4: 147,888,705	Q172*	probably null	Het
Mknk2	A	G	10: 80,668,601	L242P	possibly damaging	Het
Mrpl45	A	T	11: 97,325,747	H167L	probably benign	Het
Myc	T	C	15: 61,988,102	V208A	probably damaging	Het
Myh7b	A	G	2: 155,629,457	E1175G	probably benign	Het
Myo18a	A	T	11: 77,850,234	M1456L	probably benign	Het
Myocd	G	A	11: 65,218,658	Q96*	probably null	Het
Nckap5	T	A	1: 126,026,518	I766F	probably damaging	Het
Ndst1	T	C	18: 60,691,253	E784G	probably benign	Het
Nf1	A	T	11: 79,469,826	R1443S	possibly damaging	Het
Nhlrc3	A	G	3: 53,453,651	W228R	probably damaging	Het
Nup107	G	A	10: 117,773,320	T378I	probably damaging	Het
Olfr1033	C	T	2: 86,041,330	T5I	probably damaging	Het
Olfr1131	A	G	2: 87,628,939	T159A	probably benign	Het
Olfr293	A	T	7: 86,664,383	K240N	probably damaging	Het
Olfr524	T	A	7: 140,202,743	D9V	probably benign	Het
Olfr607	T	A	7: 103,460,273		probably null	Het
Olfr98	A	T	17: 37,263,073	M197K	probably benign	Het
Otop1	A	G	5: 38,300,458	D520G	probably benign	Het
Papln	C	T	12: 83,780,236	P712S	probably benign	Het
Pcbd2	T	A	13: 55,733,033	I34N	probably damaging	Het
Pkd1l3	T	A	8: 109,647,573	C29*	probably null	Het
Pou5f1	G	A	17: 35,510,002	V114M	probably benign	Het
Prpf4b	C	A	13: 34,884,231		probably benign	Het
Prr23a1	C	T	9: 98,842,656	P24S	probably damaging	Het
Ptch1	T	A	13: 63,545,245	M65L	probably benign	Het
Rc3h2	A	T	2: 37,399,624	I392K	possibly damaging	Het
Reck	G	T	4: 43,943,195	D916Y	probably damaging	Het
Rtf2	A	G	2: 172,445,365	D68G	probably damaging	Het
Ryr1	G	T	7: 29,090,150	T1513K	probably damaging	Het
Sacs	A	G	14: 61,173,441	D55G	possibly damaging	Het
Scn9a	A	G	2: 66,568,183	S28P	probably benign	Het
Scrn3	A	G	2: 73,329,852	M280V	probably damaging	Het
Snx29	C	T	16: 11,511,034	T559I	possibly damaging	Het
Spn	C	T	7: 127,136,241	E109K	probably damaging	Het
Sra1	C	T	18: 36,675,068	R369H	probably benign	Het
Srsf11	C	T	3: 158,019,345	A64T	probably damaging	Het
Stk17b	A	G	1: 53,776,605	S12P	probably benign	Het
Sult1d1	C	A	5: 87,559,802	G153V	probably damaging	Het
Sycp2	A	T	2: 178,350,138		probably null	Het
Tgfb3	T	C	12: 86,069,769	E165G	possibly damaging	Het
Tns2	C	A	15: 102,107,506	H160N	probably benign	Het
Ubn1	T	A	16: 5,077,224	C711*	probably null	Het
Usp13	A	T	3: 32,901,986	D469V	probably damaging	Het
Vmn1r231	A	T	17: 20,890,118	H178Q	possibly damaging	Het
Vwa1	A	G	4: 155,772,793	S183P	probably damaging	Het
Xpo7	A	G	14: 70,690,991	I424T	probably benign	Het
Zfp109	A	G	7: 24,236,616		probably null	Het

Other mutations in Ltk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Ltk	APN	2	119755605	splice site	probably benign
IGL01287:Ltk	APN	2	119755705	missense	probably benign	0.26
IGL01339:Ltk	APN	2	119752974	missense	probably damaging	1.00
IGL01614:Ltk	APN	2	119753487	missense	probably damaging	1.00
IGL01827:Ltk	APN	2	119752738	missense	probably damaging	1.00
IGL02229:Ltk	APN	2	119758573	missense	probably benign	0.01
Envy	UTSW	2	119753035	splice site	probably null
R3763:Ltk	UTSW	2	119751837	missense	probably benign	0.01
R4119:Ltk	UTSW	2	119757948	intron	probably benign
R4120:Ltk	UTSW	2	119757948	intron	probably benign
R4257:Ltk	UTSW	2	119753004	missense	possibly damaging	0.52
R4460:Ltk	UTSW	2	119755613	critical splice donor site	probably null
R4888:Ltk	UTSW	2	119753227	missense	probably damaging	1.00
R5121:Ltk	UTSW	2	119753227	missense	probably damaging	1.00
R5696:Ltk	UTSW	2	119759599	missense	probably benign	0.00
R5784:Ltk	UTSW	2	119754359	nonsense	probably null
R6301:Ltk	UTSW	2	119751757	missense	probably damaging	1.00
R6470:Ltk	UTSW	2	119753035	splice site	probably null
R6860:Ltk	UTSW	2	119754594	nonsense	probably null
R7083:Ltk	UTSW	2	119752074	missense	probably damaging	1.00
R8537:Ltk	UTSW	2	119758107	missense	probably benign	0.10
R8861:Ltk	UTSW	2	119759613	missense	probably benign	0.00
R9266:Ltk	UTSW	2	119754640	missense	possibly damaging	0.83
R9299:Ltk	UTSW	2	119754240	missense	possibly damaging	0.50
R9319:Ltk	UTSW	2	119759615	missense	probably benign
R9662:Ltk	UTSW	2	119751849	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTTCAGCACATCAGGGTCC -3'
(R):5'- TATGCCCTACCCTGGACATAC -3'

Sequencing Primer
(F):5'- TCAGCACATCAGGGTCCTGTAATG -3'
(R):5'- TAGACTTCATTGCCACAGGG -3'

Posted On

2014-09-18