Incidental Mutation 'R1625:Ltc4s'
ID 174983
Institutional Source Beutler Lab
Gene Symbol Ltc4s
Ensembl Gene ENSMUSG00000020377
Gene Name leukotriene C4 synthase
Synonyms
MMRRC Submission 039662-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.446) question?
Stock # R1625 (G1)
Quality Score 147
Status Not validated
Chromosome 11
Chromosomal Location 50127288-50129378 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 50128215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 32 (A32S)
Ref Sequence ENSEMBL: ENSMUSP00000152524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041725] [ENSMUST00000101265] [ENSMUST00000102772] [ENSMUST00000125555] [ENSMUST00000221525]
AlphaFold Q60860
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 silent
Transcript: ENSMUST00000101265
SMART Domains Protein: ENSMUSP00000098823
Gene: ENSMUSG00000020377

DomainStartEndE-ValueType
Pfam:MAPEG 8 112 4e-20 PFAM
Predicted Effect silent
Transcript: ENSMUST00000102772
SMART Domains Protein: ENSMUSP00000099833
Gene: ENSMUSG00000020377

DomainStartEndE-ValueType
Pfam:MAPEG 8 131 1.1e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122977
Predicted Effect possibly damaging
Transcript: ENSMUST00000125555
AA Change: A32S

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121584
Gene: ENSMUSG00000020377
AA Change: A32S

DomainStartEndE-ValueType
low complexity region 5 18 N/A INTRINSIC
low complexity region 64 83 N/A INTRINSIC
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 possibly damaging
Transcript: ENSMUST00000221525
AA Change: A32S

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221391
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221081
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 89.1%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,857,947 (GRCm39) M605L probably benign Het
Abcc5 A T 16: 20,184,567 (GRCm39) S1031T probably damaging Het
Acot7 T A 4: 152,270,748 (GRCm39) C31S probably benign Het
Acss3 A T 10: 106,773,263 (GRCm39) probably null Het
Adipor1 T C 1: 134,351,802 (GRCm39) F83S possibly damaging Het
Agrn G A 4: 156,257,317 (GRCm39) S1171L probably damaging Het
Aoc1l1 T A 6: 48,952,105 (GRCm39) L10Q probably damaging Het
Arhgap5 T A 12: 52,564,159 (GRCm39) C377S probably benign Het
Arid4b T A 13: 14,361,699 (GRCm39) V721D probably damaging Het
Aspm G A 1: 139,408,777 (GRCm39) A2555T probably benign Het
Atp6v0a1 T A 11: 100,946,380 (GRCm39) L791Q probably damaging Het
Car11 A G 7: 45,350,731 (GRCm39) K76E probably benign Het
Casp8ap2 T A 4: 32,648,068 (GRCm39) M1925K probably benign Het
Cc2d1a A T 8: 84,866,001 (GRCm39) L418Q probably damaging Het
Ccl9 G A 11: 83,466,736 (GRCm39) R64W probably damaging Het
Cfap20dc A G 14: 8,431,668 (GRCm38) Y655H probably damaging Het
Cfap43 T A 19: 47,739,527 (GRCm39) K1325N probably damaging Het
Dars2 G A 1: 160,881,614 (GRCm39) P305L possibly damaging Het
Ddx11 C T 17: 66,457,692 (GRCm39) T859I probably benign Het
Dock7 C T 4: 98,850,433 (GRCm39) probably null Het
Efcab6 A G 15: 83,831,839 (GRCm39) V570A probably benign Het
Fermt1 T A 2: 132,764,751 (GRCm39) I369F probably damaging Het
Fras1 A G 5: 96,861,849 (GRCm39) Y2161C probably damaging Het
Fras1 C A 5: 96,857,837 (GRCm39) P2044T possibly damaging Het
Gucy1a1 T C 3: 82,009,362 (GRCm39) I549V probably benign Het
Hspg2 G A 4: 137,246,282 (GRCm39) S1020N probably benign Het
Kif21a A G 15: 90,826,378 (GRCm39) S1360P probably damaging Het
Lrp3 T C 7: 34,903,350 (GRCm39) Y332C probably damaging Het
Mgrn1 T C 16: 4,728,627 (GRCm39) L84P probably damaging Het
Muc2 C G 7: 141,283,405 (GRCm39) C672W probably damaging Het
Mvp A T 7: 126,600,845 (GRCm39) V52E probably damaging Het
Ndrg2 T C 14: 52,144,420 (GRCm39) T269A probably damaging Het
Notch2 T A 3: 98,018,891 (GRCm39) D684E probably damaging Het
Nup205 A G 6: 35,168,878 (GRCm39) D316G probably benign Het
Or12e7 T A 2: 87,288,016 (GRCm39) I169K probably damaging Het
Or2v2 T C 11: 49,004,071 (GRCm39) M161V probably benign Het
Or7d11 A G 9: 19,966,678 (GRCm39) L27P probably damaging Het
Pcsk1 A T 13: 75,274,971 (GRCm39) D520V probably benign Het
Pik3cg A T 12: 32,244,741 (GRCm39) D904E probably damaging Het
Pitpnm2 T A 5: 124,271,496 (GRCm39) D359V probably benign Het
Ppih T C 4: 119,175,779 (GRCm39) I69V probably damaging Het
Rab11fip3 T C 17: 26,287,865 (GRCm39) E96G possibly damaging Het
Retreg3 C A 11: 100,992,875 (GRCm39) M1I probably null Het
Rfpl4 C T 7: 5,118,409 (GRCm39) V54I possibly damaging Het
Rif1 T C 2: 51,993,652 (GRCm39) I855T probably benign Het
Rrm1 T A 7: 102,117,554 (GRCm39) I748N probably damaging Het
Sap130 T A 18: 31,807,517 (GRCm39) N441K probably damaging Het
Sf3b1 T A 1: 55,058,536 (GRCm39) I18F probably damaging Het
Skor2 A G 18: 76,946,499 (GRCm39) N74D unknown Het
Slc17a6 C A 7: 51,311,208 (GRCm39) F307L probably benign Het
Slc25a13 G A 6: 6,096,675 (GRCm39) L410F probably damaging Het
Slc47a1 A T 11: 61,262,625 (GRCm39) V38E probably damaging Het
Slc8a1 T A 17: 81,956,670 (GRCm39) T123S probably damaging Het
Slc9a5 C A 8: 106,094,755 (GRCm39) T782K possibly damaging Het
Spmip7 C A 11: 11,438,644 (GRCm39) probably benign Het
Sppl2c C A 11: 104,077,995 (GRCm39) T265K probably damaging Het
Srfbp1 A G 18: 52,621,788 (GRCm39) K283R probably benign Het
Ssr1 C T 13: 38,173,479 (GRCm39) probably null Het
Stard3nl T C 13: 19,556,754 (GRCm39) probably null Het
Timeless G T 10: 128,076,493 (GRCm39) S134I probably damaging Het
Tll1 A G 8: 64,494,476 (GRCm39) F760L probably damaging Het
Tspear A G 10: 77,706,333 (GRCm39) I368V probably benign Het
Txnrd2 G T 16: 18,257,116 (GRCm39) W144L probably damaging Het
Unc5d T C 8: 29,173,234 (GRCm39) E668G probably damaging Het
Urb1 C T 16: 90,570,936 (GRCm39) probably null Het
Uts2r A G 11: 121,052,033 (GRCm39) Y299C probably damaging Het
Vmn1r66 G T 7: 10,008,316 (GRCm39) T239K probably benign Het
Vps39 C T 2: 120,154,106 (GRCm39) V630M probably damaging Het
Wrn T C 8: 33,819,158 (GRCm39) T22A probably benign Het
Zfp7 T A 15: 76,765,374 (GRCm39) D22E probably damaging Het
Other mutations in Ltc4s
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03194:Ltc4s APN 11 50,127,398 (GRCm39) makesense probably null
R0941:Ltc4s UTSW 11 50,128,269 (GRCm39) critical splice acceptor site probably null
R2420:Ltc4s UTSW 11 50,128,166 (GRCm39) critical splice donor site probably null
R4647:Ltc4s UTSW 11 50,128,052 (GRCm39) missense probably benign 0.00
R4700:Ltc4s UTSW 11 50,127,908 (GRCm39) missense probably damaging 1.00
R7645:Ltc4s UTSW 11 50,129,373 (GRCm39) unclassified probably benign
R8367:Ltc4s UTSW 11 50,127,511 (GRCm39) missense possibly damaging 0.66
R9086:Ltc4s UTSW 11 50,128,074 (GRCm39) missense probably damaging 1.00
R9497:Ltc4s UTSW 11 50,127,386 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CAGAGTTACCTGAGTTGCGCTGAG -3'
(R):5'- TCCATTGAACACCACTGATGGGGC -3'

Sequencing Primer
(F):5'- GCGTATCCCTGGAAATAGCG -3'
(R):5'- CACTGATGGGGCAGGTGG -3'
Posted On 2014-04-24