Incidental Mutation 'IGL03194:Ltc4s'
ID412744
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ltc4s
Ensembl Gene ENSMUSG00000020377
Gene Nameleukotriene C4 synthase
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.522) question?
Stock #IGL03194
Quality Score
Status
Chromosome11
Chromosomal Location50236461-50238616 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) T to C at 50236571 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Tryptophan at position 151 (*151W)
Ref Sequence ENSEMBL: ENSMUSP00000099833 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041725] [ENSMUST00000101265] [ENSMUST00000102772] [ENSMUST00000125555] [ENSMUST00000221525]
PDB Structure
Mus Musculus LTC4 synthase in apo form [X-RAY DIFFRACTION]
Mus Musculus LTC4 synthase in GSH complex form [X-RAY DIFFRACTION]
Mus Musculus LTC4 synthase in S-hexyl-GSH complex form [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000041725
SMART Domains Protein: ENSMUSP00000043346
Gene: ENSMUSG00000036620

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Glyco_transf_54 98 387 6.6e-138 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000101265
AA Change: *114W
SMART Domains Protein: ENSMUSP00000098823
Gene: ENSMUSG00000020377
AA Change: *114W

DomainStartEndE-ValueType
Pfam:MAPEG 8 112 4e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000102772
AA Change: *151W
SMART Domains Protein: ENSMUSP00000099833
Gene: ENSMUSG00000020377
AA Change: *151W

DomainStartEndE-ValueType
Pfam:MAPEG 8 131 1.1e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122977
Predicted Effect unknown
Transcript: ENSMUST00000125555
AA Change: R146G
SMART Domains Protein: ENSMUSP00000121584
Gene: ENSMUSG00000020377
AA Change: R146G

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
low complexity region 64 83 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133714
Predicted Effect probably benign
Transcript: ENSMUST00000151803
SMART Domains Protein: ENSMUSP00000116802
Gene: ENSMUSG00000036620

DomainStartEndE-ValueType
Pfam:Glyco_transf_54 46 252 1.9e-89 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221081
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221391
Predicted Effect unknown
Transcript: ENSMUST00000221525
AA Change: R109G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222498
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is an enzyme that catalyzes the synthesis of leukotriene C4 by combining leukotriene A4 with reduced glutathione. The encoded protein is found in the outer nuclear membrane and in the peripheral endoplasmic reticulum. Leukotrienes have been implicated as mediators of anaphylaxis and inflammatory conditions such as bronchial asthma in humans. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormal inflammatory and hypersensitivity reactions but are otherwise normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T C 8: 83,734,018 S64G possibly damaging Het
Clcn7 T C 17: 25,150,548 V306A probably damaging Het
Clec4b2 G A 6: 123,200,987 G87D probably benign Het
Disp2 A T 2: 118,787,629 R219W probably damaging Het
Dstyk A T 1: 132,456,316 probably benign Het
F830045P16Rik T C 2: 129,460,320 S451G possibly damaging Het
Fam155a T C 8: 9,232,975 D358G probably damaging Het
Fat2 T A 11: 55,310,995 T418S probably benign Het
Fto G A 8: 91,409,787 D228N probably damaging Het
Gins4 A T 8: 23,234,746 probably benign Het
Gm10220 T A 5: 26,121,233 R40W probably damaging Het
Gm11149 G A 9: 49,546,346 probably benign Het
Gm5431 T G 11: 48,895,537 probably benign Het
Hebp1 A G 6: 135,155,192 M59T probably benign Het
Lrp1 A T 10: 127,568,685 V1989D probably damaging Het
Lrrc6 A T 15: 66,442,199 D317E probably benign Het
Map3k21 A G 8: 125,924,062 T268A possibly damaging Het
Mdp1 A G 14: 55,658,987 L164P probably damaging Het
Mroh4 T C 15: 74,611,539 T650A probably damaging Het
Mss51 T C 14: 20,485,097 N202D probably benign Het
Mtus2 G A 5: 148,107,103 A834T probably damaging Het
Ncoa6 A G 2: 155,415,868 M585T possibly damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Npvf A C 6: 50,650,898 D180E possibly damaging Het
Nup188 A T 2: 30,304,334 Y173F possibly damaging Het
Oas3 C A 5: 120,758,953 A868S probably damaging Het
Pkhd1l1 A G 15: 44,518,135 T1086A probably damaging Het
Pla2g6 G A 15: 79,317,785 P62L probably damaging Het
Rara T C 11: 98,971,664 M297T possibly damaging Het
Tmc1 T C 19: 20,804,653 E567G probably damaging Het
Tnxb C T 17: 34,695,947 Q1970* probably null Het
Usp11 T C X: 20,712,417 I162T probably benign Het
Utrn A G 10: 12,406,429 probably benign Het
Zfhx3 A G 8: 108,794,727 E827G probably damaging Het
Other mutations in Ltc4s
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0941:Ltc4s UTSW 11 50237442 critical splice acceptor site probably null
R1625:Ltc4s UTSW 11 50237388 missense possibly damaging 0.81
R2420:Ltc4s UTSW 11 50237339 critical splice donor site probably null
R4647:Ltc4s UTSW 11 50237225 missense probably benign 0.00
R4700:Ltc4s UTSW 11 50237081 missense probably damaging 1.00
Posted On2016-08-02