Incidental Mutation 'IGL02229:Ltk'
ID 285418
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ltk
Ensembl Gene ENSMUSG00000027297
Gene Name leukocyte tyrosine kinase
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02229
Quality Score
Status
Chromosome 2
Chromosomal Location 119581807-119590912 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 119589054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 200 (R200H)
Ref Sequence ENSEMBL: ENSMUSP00000080774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028759] [ENSMUST00000082130] [ENSMUST00000110793] [ENSMUST00000140224] [ENSMUST00000182203]
AlphaFold P08923
Predicted Effect probably benign
Transcript: ENSMUST00000028759
AA Change: R200H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000028759
Gene: ENSMUSG00000027297
AA Change: R200H

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000082130
AA Change: R200H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000080774
Gene: ENSMUSG00000027297
AA Change: R200H

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000110793
SMART Domains Protein: ENSMUSP00000106420
Gene: ENSMUSG00000034032

DomainStartEndE-ValueType
low complexity region 62 81 N/A INTRINSIC
Pfam:RPAP1_N 224 272 1.7e-21 PFAM
Pfam:RPAP1_C 370 440 2.9e-27 PFAM
low complexity region 451 473 N/A INTRINSIC
low complexity region 476 488 N/A INTRINSIC
low complexity region 515 529 N/A INTRINSIC
low complexity region 739 752 N/A INTRINSIC
low complexity region 843 860 N/A INTRINSIC
low complexity region 989 1007 N/A INTRINSIC
low complexity region 1042 1052 N/A INTRINSIC
low complexity region 1097 1108 N/A INTRINSIC
low complexity region 1193 1204 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134295
Predicted Effect probably benign
Transcript: ENSMUST00000140224
SMART Domains Protein: ENSMUSP00000123020
Gene: ENSMUSG00000027297

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000182203
SMART Domains Protein: ENSMUSP00000138201
Gene: ENSMUSG00000027297

DomainStartEndE-ValueType
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
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,055,696 (GRCm39) D144G probably damaging Het
Adgrg1 G T 8: 95,730,139 (GRCm39) D114Y probably damaging Het
Ago4 T A 4: 126,405,325 (GRCm39) N416I probably benign Het
Aoc1 C T 6: 48,882,843 (GRCm39) Q240* probably null Het
Atl1 G A 12: 69,972,799 (GRCm39) V40I probably benign Het
Cdh2 T C 18: 16,757,810 (GRCm39) I591V probably benign Het
Cic C A 7: 24,990,375 (GRCm39) Q1959K probably damaging Het
Cmya5 C T 13: 93,229,194 (GRCm39) E1965K possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspp1 T C 1: 10,153,781 (GRCm39) S397P probably damaging Het
D130043K22Rik T C 13: 25,059,907 (GRCm39) Y593H probably damaging Het
Dck A G 5: 88,921,964 (GRCm39) Y142C probably damaging Het
Eea1 A T 10: 95,854,046 (GRCm39) E568V probably damaging Het
Gabra3 A G X: 71,544,683 (GRCm39) probably null Het
Gucy2f A G X: 140,962,984 (GRCm39) S342P probably benign Het
Hbb-bh1 T A 7: 103,492,032 (GRCm39) I61F possibly damaging Het
Hook1 T C 4: 95,889,488 (GRCm39) S235P possibly damaging Het
Hoxd12 G A 2: 74,506,278 (GRCm39) R230H probably damaging Het
Iglc2 C T 16: 19,017,483 (GRCm39) A41T probably benign Het
Il1r1 A G 1: 40,352,518 (GRCm39) K566E probably damaging Het
Kcns3 A T 12: 11,142,093 (GRCm39) M202K probably damaging Het
Krt7 C A 15: 101,325,497 (GRCm39) A442D probably benign Het
Macf1 G T 4: 123,403,619 (GRCm39) D582E probably damaging Het
Mbnl3 A T X: 50,228,218 (GRCm39) Y69N probably damaging Het
Mpp1 T C X: 74,165,034 (GRCm39) probably benign Het
Myo18b A G 5: 113,025,976 (GRCm39) S25P unknown Het
Nsd3 A G 8: 26,200,775 (GRCm39) N1289S probably damaging Het
Or8d1 T A 9: 38,766,712 (GRCm39) M118K possibly damaging Het
Pacs2 A G 12: 113,020,420 (GRCm39) probably benign Het
Rab3gap2 A G 1: 184,991,580 (GRCm39) K689E possibly damaging Het
Sva T A 6: 42,019,156 (GRCm39) C109S probably damaging Het
Taf3 T C 2: 9,957,645 (GRCm39) N174S probably damaging Het
Tbc1d5 A T 17: 51,159,628 (GRCm39) M393K probably damaging Het
Tmem242 A T 17: 5,461,682 (GRCm39) S129T probably benign Het
Ttn A T 2: 76,701,513 (GRCm39) probably benign Het
Other mutations in Ltk
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9299:Ltk UTSW 2 119,584,721 (GRCm39) missense possibly damaging 0.50
R9319:Ltk UTSW 2 119,590,096 (GRCm39) missense probably benign
R9662:Ltk UTSW 2 119,582,330 (GRCm39) nonsense probably null
Posted On 2015-04-16