Incidental Mutation 'IGL01339:Ltk'
ID 74752
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 # IGL01339
Quality Score
Status
Chromosome 2
Chromosomal Location 119581807-119590912 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119583455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 310 (D310V)
Ref Sequence ENSEMBL: ENSMUSP00000138201 (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

DomainStartEndE-ValueType
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: D622V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028759
Gene: ENSMUSG00000027297
AA Change: D622V

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 damaging
Transcript: ENSMUST00000082130
AA Change: D561V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080774
Gene: ENSMUSG00000027297
AA Change: D561V

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 noncoding transcript
Transcript: ENSMUST00000127470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134295
Predicted Effect probably damaging
Transcript: ENSMUST00000140224
AA Change: D210V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123020
Gene: ENSMUSG00000027297
AA Change: D210V

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 damaging
Transcript: ENSMUST00000182203
AA Change: D310V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138201
Gene: ENSMUSG00000027297
AA Change: D310V

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bahcc1 A G 11: 120,180,338 (GRCm39) T2565A probably damaging Het
C8a A C 4: 104,685,182 (GRCm39) F354V probably benign Het
Cadps C T 14: 12,486,543 (GRCm38) V876M possibly damaging Het
Chmp7 A T 14: 69,956,855 (GRCm39) I351N probably damaging Het
Clec7a A T 6: 129,442,449 (GRCm39) W193R probably damaging Het
Clint1 T C 11: 45,799,846 (GRCm39) V535A probably benign Het
Clu A G 14: 66,213,037 (GRCm39) E141G probably damaging Het
Cmah A T 13: 24,614,532 (GRCm39) D159V probably damaging Het
Cntn2 A T 1: 132,446,643 (GRCm39) probably null Het
Cox6a1 C A 5: 115,483,898 (GRCm39) probably benign Het
Cyp2d10 C T 15: 82,288,042 (GRCm39) A195T probably benign Het
Dnah10 G T 5: 124,854,276 (GRCm39) K1901N probably damaging Het
Dnai3 T C 3: 145,748,591 (GRCm39) Y841C probably benign Het
Dop1a G A 9: 86,433,730 (GRCm39) D2329N possibly damaging Het
Eipr1 A G 12: 28,914,770 (GRCm39) E308G probably damaging Het
Exoc4 T C 6: 33,282,335 (GRCm39) probably benign Het
Fancd2 A G 6: 113,530,713 (GRCm39) I449V probably benign Het
Fbn2 T C 18: 58,246,442 (GRCm39) T487A possibly damaging Het
Fbxo40 T C 16: 36,790,816 (GRCm39) E98G probably damaging Het
Folh1 G A 7: 86,375,306 (GRCm39) T527I probably damaging Het
Gls C T 1: 52,227,867 (GRCm39) D217N probably damaging Het
Gm6994 A G 14: 77,718,618 (GRCm39) probably benign Het
Gpr149 A T 3: 62,511,718 (GRCm39) W94R probably damaging Het
Gpr158 A G 2: 21,373,842 (GRCm39) D259G possibly damaging Het
Hcn2 T C 10: 79,564,902 (GRCm39) L438P probably damaging Het
Hgd A C 16: 37,452,092 (GRCm39) T374P possibly damaging Het
Ints3 A G 3: 90,322,463 (GRCm39) probably null Het
Kctd5 A T 17: 24,276,749 (GRCm39) V172E probably damaging Het
Lmcd1 A G 6: 112,287,586 (GRCm39) I91V probably benign Het
Lrrc37a A G 11: 103,388,763 (GRCm39) S2221P unknown Het
Luzp1 T A 4: 136,270,087 (GRCm39) M770K probably damaging Het
Mxd4 G A 5: 34,341,690 (GRCm39) probably benign Het
Mzb1 T A 18: 35,781,399 (GRCm39) H71L probably benign Het
Necap2 G A 4: 140,802,276 (GRCm39) T63I probably benign Het
Nefl A G 14: 68,323,931 (GRCm39) probably benign Het
Odam G A 5: 88,033,755 (GRCm39) probably null Het
Pcdh18 A G 3: 49,710,247 (GRCm39) I356T probably benign Het
Pcx T A 19: 4,670,263 (GRCm39) probably null Het
Pde2a T C 7: 101,156,366 (GRCm39) S593P probably benign Het
Rapgef3 A T 15: 97,655,940 (GRCm39) L359M probably damaging Het
Rb1 T C 14: 73,501,811 (GRCm39) probably null Het
Rbm44 A G 1: 91,096,686 (GRCm39) I976V probably benign Het
Rdh13 A T 7: 4,430,623 (GRCm39) S278R probably damaging Het
Rgma A G 7: 73,067,231 (GRCm39) E256G probably damaging Het
Rnf112 A T 11: 61,341,303 (GRCm39) D402E probably benign Het
Rnps1 T A 17: 24,641,273 (GRCm39) D224E probably damaging Het
Scn10a C T 9: 119,451,832 (GRCm39) V1364M probably damaging Het
Scn1a C T 2: 66,156,304 (GRCm39) R535H probably benign Het
Scn8a A T 15: 100,930,082 (GRCm39) D1431V probably benign Het
Setdb1 A T 3: 95,245,891 (GRCm39) L677* probably null Het
Slc17a8 T A 10: 89,427,106 (GRCm39) I148F probably damaging Het
Slx4ip T A 2: 136,885,975 (GRCm39) C98* probably null Het
Sptbn2 T G 19: 4,796,000 (GRCm39) Y1726* probably null Het
Tcof1 T C 18: 60,951,167 (GRCm39) probably benign Het
Tdrd3 G A 14: 87,718,230 (GRCm39) V210I possibly damaging Het
Tdrd9 G A 12: 112,006,868 (GRCm39) V911M probably damaging Het
Tmod4 G A 3: 95,035,608 (GRCm39) R252H probably benign Het
Tti1 G T 2: 157,851,050 (GRCm39) P63Q possibly damaging Het
Tuft1 A T 3: 94,535,594 (GRCm39) D109E probably damaging Het
Zcchc2 T C 1: 105,957,505 (GRCm39) S659P probably damaging 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
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
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 2013-10-07