Mutagenetix > Incidental Mutation

Incidental Mutation 'R9299:Ltk'

704770

Institutional Source

Beutler Lab

Gene Symbol

Ltk

Ensembl Gene

ENSMUSG00000027297

Gene Name

leukocyte tyrosine kinase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9299 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119581807-119590912 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119584721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 487 (S487R)

Ref Sequence

ENSEMBL: ENSMUSP00000028759 (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

possibly damaging
Transcript: ENSMUST00000028759
AA Change: S487R

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028759
Gene: ENSMUSG00000027297
AA Change: S487R

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

possibly damaging
Transcript: ENSMUST00000082130
AA Change: S426R

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080774
Gene: ENSMUSG00000027297
AA Change: S426R

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

possibly damaging
Transcript: ENSMUST00000140224
AA Change: S75R

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123020
Gene: ENSMUSG00000027297
AA Change: S75R

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: S175R

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138201
Gene: ENSMUSG00000027297
AA Change: S175R

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	T	9: 57,163,792 (GRCm39)	R861S	possibly damaging	Het
Abca12	T	A	1: 71,359,042 (GRCm39)	N588I	possibly damaging	Het
Adamts9	A	G	6: 92,773,976 (GRCm39)	Y1727H	probably benign	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Alad	C	T	4: 62,429,760 (GRCm39)		probably null	Het
Anapc15-ps	C	A	10: 95,509,077 (GRCm39)	D68Y	probably damaging	Het
Arhgap45	T	C	10: 79,862,565 (GRCm39)	S645P	possibly damaging	Het
Atp9a	A	T	2: 168,554,666 (GRCm39)	M1K	probably null	Het
B020004C17Rik	A	T	14: 57,254,230 (GRCm39)	I118F	probably damaging	Het
Capn13	T	A	17: 73,633,467 (GRCm39)		probably null	Het
Ccdc7a	T	C	8: 129,616,319 (GRCm39)	Q928R	probably benign	Het
Cdc42bpa	C	A	1: 179,972,073 (GRCm39)	L1292I	probably damaging	Het
Clec2e	A	C	6: 129,072,092 (GRCm39)	F96V	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cnot1	T	C	8: 96,468,448 (GRCm39)	I1460M	probably damaging	Het
Cyc1	T	C	15: 76,228,506 (GRCm39)	V45A	probably benign	Het
Cyp4a10	A	G	4: 115,376,947 (GRCm39)	M104V	probably benign	Het
Cyth1	C	T	11: 118,059,837 (GRCm39)		probably benign	Het
Dnhd1	T	A	7: 105,369,806 (GRCm39)	N4410K	probably benign	Het
Dok4	T	A	8: 95,593,469 (GRCm39)	T106S	probably benign	Het
Dpcd	C	A	19: 45,566,009 (GRCm39)	Q203K	probably damaging	Het
Dph1	T	A	11: 75,070,622 (GRCm39)	Q339L	possibly damaging	Het
Dpy19l3	G	T	7: 35,424,752 (GRCm39)	S187*	probably null	Het
Eva1a	G	T	6: 82,069,047 (GRCm39)	A125S	probably damaging	Het
Fam24b	T	A	7: 130,927,949 (GRCm39)	Y80F	probably benign	Het
Frem2	T	C	3: 53,563,980 (GRCm39)	T176A	probably benign	Het
Gal3st3	A	T	19: 5,356,868 (GRCm39)	N81I	probably damaging	Het
Gm12888	G	A	4: 121,182,044 (GRCm39)	S16F	unknown	Het
Hsf5	T	A	11: 87,526,770 (GRCm39)	C481S	probably benign	Het
Ifi211	T	A	1: 173,735,288 (GRCm39)	Q47L	probably damaging	Het
Il17re	A	T	6: 113,440,971 (GRCm39)	M202L	probably benign	Het
Krtap5-3	T	A	7: 141,756,267 (GRCm39)	H175Q	unknown	Het
Ksr2	G	A	5: 117,885,399 (GRCm39)		probably null	Het
Lrtm1	C	T	14: 28,743,714 (GRCm39)	P61S	probably damaging	Het
Mis18bp1	A	T	12: 65,185,538 (GRCm39)	D876E	possibly damaging	Het
Nalf1	T	C	8: 9,820,156 (GRCm39)	Y288C	probably damaging	Het
Or8b39	A	G	9: 37,996,785 (GRCm39)	T218A	probably benign	Het
Paqr7	A	G	4: 134,234,311 (GRCm39)	N56S	probably benign	Het
Pcdhb22	G	T	18: 37,651,885 (GRCm39)	E118*	probably null	Het
Pcdhb4	G	A	18: 37,442,264 (GRCm39)	A525T	probably benign	Het
Pik3cb	A	G	9: 98,943,844 (GRCm39)	F653S	probably damaging	Het
Pla2g4e	T	A	2: 120,002,204 (GRCm39)	D617V	probably damaging	Het
Plekha1	T	A	7: 130,511,348 (GRCm39)	C311S	possibly damaging	Het
Poteg	A	G	8: 27,940,287 (GRCm39)	Y156C	probably benign	Het
Rev3l	T	C	10: 39,723,999 (GRCm39)	S2644P	probably damaging	Het
Rnf40	T	A	7: 127,188,172 (GRCm39)	S2T	probably benign	Het
Rrp8	T	C	7: 105,383,384 (GRCm39)	D294G	probably damaging	Het
Slc6a21	T	C	7: 44,937,130 (GRCm39)	V252A		Het
Slx9	C	A	10: 77,351,535 (GRCm39)	A14S	possibly damaging	Het
Socs1	T	C	16: 10,602,578 (GRCm39)	D53G	possibly damaging	Het
St6galnac6	G	T	2: 32,502,345 (GRCm39)	R78L	probably benign	Het
Tbce	T	C	13: 14,194,398 (GRCm39)	K87R	probably benign	Het
Tep1	T	C	14: 51,081,988 (GRCm39)		probably benign	Het
Thada	T	C	17: 84,749,205 (GRCm39)	M589V	probably benign	Het
Thsd7a	A	G	6: 12,504,131 (GRCm39)	F341S		Het
Tmem82	A	T	4: 141,343,861 (GRCm39)	C136*	probably null	Het
Tmprss11a	A	T	5: 86,570,361 (GRCm39)	C199*	probably null	Het
Zbtb48	T	C	4: 152,105,147 (GRCm39)	N505S	possibly damaging	Het
Zfp385b	A	T	2: 77,246,115 (GRCm39)	V304E	probably damaging	Het

Other mutations in Ltk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Ltk	APN	2	119,586,086 (GRCm39)	splice site	probably benign
IGL01287:Ltk	APN	2	119,586,186 (GRCm39)	missense	probably benign	0.26
IGL01339:Ltk	APN	2	119,583,455 (GRCm39)	missense	probably damaging	1.00
IGL01614:Ltk	APN	2	119,583,968 (GRCm39)	missense	probably damaging	1.00
IGL01827:Ltk	APN	2	119,583,219 (GRCm39)	missense	probably damaging	1.00
IGL02229:Ltk	APN	2	119,589,054 (GRCm39)	missense	probably benign	0.01
Envy	UTSW	2	119,583,516 (GRCm39)	splice site	probably null
R2105:Ltk	UTSW	2	119,582,569 (GRCm39)	missense	probably damaging	1.00
R3763:Ltk	UTSW	2	119,582,318 (GRCm39)	missense	probably benign	0.01
R4119:Ltk	UTSW	2	119,588,429 (GRCm39)	intron	probably benign
R4120:Ltk	UTSW	2	119,588,429 (GRCm39)	intron	probably benign
R4257:Ltk	UTSW	2	119,583,485 (GRCm39)	missense	possibly damaging	0.52
R4460:Ltk	UTSW	2	119,586,094 (GRCm39)	critical splice donor site	probably null
R4888:Ltk	UTSW	2	119,583,708 (GRCm39)	missense	probably damaging	1.00
R5121:Ltk	UTSW	2	119,583,708 (GRCm39)	missense	probably damaging	1.00
R5696:Ltk	UTSW	2	119,590,080 (GRCm39)	missense	probably benign	0.00
R5784:Ltk	UTSW	2	119,584,840 (GRCm39)	nonsense	probably null
R6301:Ltk	UTSW	2	119,582,238 (GRCm39)	missense	probably damaging	1.00
R6470:Ltk	UTSW	2	119,583,516 (GRCm39)	splice site	probably null
R6860:Ltk	UTSW	2	119,585,075 (GRCm39)	nonsense	probably null
R7083:Ltk	UTSW	2	119,582,555 (GRCm39)	missense	probably damaging	1.00
R8537:Ltk	UTSW	2	119,588,588 (GRCm39)	missense	probably benign	0.10
R8861:Ltk	UTSW	2	119,590,094 (GRCm39)	missense	probably benign	0.00
R9266:Ltk	UTSW	2	119,585,121 (GRCm39)	missense	possibly damaging	0.83
R9319:Ltk	UTSW	2	119,590,096 (GRCm39)	missense	probably benign
R9662:Ltk	UTSW	2	119,582,330 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGAACTTCTTCTGCACAAGGG -3'
(R):5'- AGCTTTTAGGAGTAGTGCCAG -3'

Sequencing Primer
(F):5'- ACAAGGGATTTGAGTTAGATGCCCTC -3'
(R):5'- TTAGGAGTAGTGCCAGGGAGTCC -3'

Posted On

2022-03-25