Incidental Mutation 'R6301:Ltk'
ID 509077
Institutional Source Beutler Lab
Gene Symbol Ltk
Ensembl Gene ENSMUSG00000027297
Gene Name leukocyte tyrosine kinase
Synonyms
MMRRC Submission 044466-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6301 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 119581807-119590912 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119582238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 838 (S838P)
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

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: S838P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000028759
Gene: ENSMUSG00000027297
AA Change: S838P

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: S777P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080774
Gene: ENSMUSG00000027297
AA Change: S777P

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 benign
Transcript: ENSMUST00000140224
AA Change: S426P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000123020
Gene: ENSMUSG00000027297
AA Change: S426P

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: S526P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138201
Gene: ENSMUSG00000027297
AA Change: S526P

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
Meta Mutation Damage Score 0.1028 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (66/66)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 C T 4: 144,285,224 (GRCm39) A138T probably damaging Het
Acot10 T C 15: 20,666,348 (GRCm39) N131S probably benign Het
Agbl5 A G 5: 31,049,177 (GRCm39) Y220C probably damaging Het
Ankdd1a C T 9: 65,415,343 (GRCm39) A227T possibly damaging Het
Ap3b1 A T 13: 94,664,803 (GRCm39) Q914L unknown Het
Arhgef25 T C 10: 127,021,751 (GRCm39) D216G possibly damaging Het
Bcas2 T A 3: 103,079,187 (GRCm39) probably benign Het
Bpifb5 A C 2: 154,072,139 (GRCm39) H282P possibly damaging Het
Ccdc121rt2 A T 5: 112,598,334 (GRCm39) I294F possibly damaging Het
Ccdc167 A G 17: 29,924,556 (GRCm39) I15T probably damaging Het
Cd248 A G 19: 5,120,009 (GRCm39) N619S probably benign Het
Chrna1 A G 2: 73,400,828 (GRCm39) F234S possibly damaging Het
Clcc1 T G 3: 108,580,682 (GRCm39) M332R probably damaging Het
Cmklr1 T A 5: 113,752,999 (GRCm39) M1L possibly damaging Het
Cntnap5c A G 17: 58,199,032 (GRCm39) M109V probably benign Het
Coq2 A G 5: 100,809,729 (GRCm39) I18T possibly damaging Het
Crybg3 T C 16: 59,350,701 (GRCm39) S880G probably damaging Het
Cubn A G 2: 13,482,889 (GRCm39) C286R probably damaging Het
Defa24 T C 8: 22,225,299 (GRCm39) V63A probably benign Het
Dnah6 C T 6: 73,063,200 (GRCm39) R2634H probably damaging Het
Dusp8 T A 7: 141,636,756 (GRCm39) probably null Het
Elac1 T C 18: 73,871,939 (GRCm39) D352G probably damaging Het
Ermap A T 4: 119,042,800 (GRCm39) V241E probably damaging Het
Fgf10 T A 13: 118,852,047 (GRCm39) M43K probably benign Het
Gabrd A G 4: 155,471,724 (GRCm39) V193A probably damaging Het
Hectd4 T G 5: 121,392,283 (GRCm39) C182W possibly damaging Het
Hook3 C T 8: 26,524,968 (GRCm39) W26* probably null Het
Kif1a C A 1: 92,982,663 (GRCm39) E714* probably null Het
Krt6b T C 15: 101,587,386 (GRCm39) E236G probably damaging Het
Large2 A G 2: 92,199,861 (GRCm39) L209P probably damaging Het
Lats1 A G 10: 7,578,871 (GRCm39) N665S probably benign Het
Lrrc37 A T 11: 103,509,756 (GRCm39) probably benign Het
Lrrtm3 T C 10: 63,925,001 (GRCm39) I55M probably benign Het
Ltn1 T C 16: 87,217,194 (GRCm39) I348V probably benign Het
Mag T A 7: 30,600,104 (GRCm39) S559C probably damaging Het
Mink1 A G 11: 70,503,120 (GRCm39) H1072R possibly damaging Het
Mycbp2 T A 14: 103,392,862 (GRCm39) Q833L probably damaging Het
Myh4 G A 11: 67,146,159 (GRCm39) E1406K possibly damaging Het
Npc1 C T 18: 12,330,302 (GRCm39) V950I probably benign Het
Npl A G 1: 153,394,627 (GRCm39) probably null Het
Or10w3 A G 19: 13,703,753 (GRCm39) I43V probably benign Het
Or11g27 T A 14: 50,771,711 (GRCm39) F281I probably benign Het
Or2m13 A T 16: 19,226,167 (GRCm39) F200I possibly damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Oxsm A T 14: 16,242,220 (GRCm38) I183N probably damaging Het
Pde7a T C 3: 19,297,327 (GRCm39) I108V probably benign Het
Pgghg A T 7: 140,526,289 (GRCm39) T585S probably damaging Het
Pkhd1l1 G A 15: 44,452,921 (GRCm39) D3949N probably damaging Het
Ralgapa2 A T 2: 146,169,331 (GRCm39) H1777Q possibly damaging Het
Rela G A 19: 5,695,438 (GRCm39) probably null Het
Rilpl1 C A 5: 124,652,602 (GRCm39) G41W probably damaging Het
Rp1 T C 1: 4,417,477 (GRCm39) K1212E probably benign Het
Sgca A C 11: 94,863,393 (GRCm39) L28V probably damaging Het
Ssmem1 A G 6: 30,519,758 (GRCm39) R148G probably damaging Het
St8sia5 A T 18: 77,333,836 (GRCm39) N165Y probably damaging Het
Tbl2 A T 5: 135,188,223 (GRCm39) H339L probably benign Het
Tcof1 G A 18: 60,961,897 (GRCm39) P718L probably damaging Het
Trim72 A T 7: 127,603,786 (GRCm39) E44V possibly damaging Het
Try10 T A 6: 41,332,523 (GRCm39) S60T probably benign Het
Usp31 A T 7: 121,247,499 (GRCm39) S1315T possibly damaging Het
Xrn2 A G 2: 146,905,262 (GRCm39) I856V 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
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
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
Predicted Primers PCR Primer
(F):5'- AAGAGGGTCTGGGCTAGTTTCC -3'
(R):5'- CTGATGTGCTGAACTCACCC -3'

Sequencing Primer
(F):5'- TGCCTGAACATGCAGCACAG -3'
(R):5'- GCTGAACTCACCCCTGCC -3'
Posted On 2018-04-02