Incidental Mutation 'IGL02589:Lta4h'
ID 299667
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lta4h
Ensembl Gene ENSMUSG00000015889
Gene Name leukotriene A4 hydrolase
Synonyms LTA4 hydrodase
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02589
Quality Score
Status
Chromosome 10
Chromosomal Location 93289273-93320737 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93310793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 441 (N441S)
Ref Sequence ENSEMBL: ENSMUSP00000016033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016033]
AlphaFold P24527
Predicted Effect probably benign
Transcript: ENSMUST00000016033
AA Change: N441S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000016033
Gene: ENSMUSG00000015889
AA Change: N441S

DomainStartEndE-ValueType
Pfam:Peptidase_M1 13 387 7.8e-80 PFAM
Leuk-A4-hydro_C 464 608 2.01e-65 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214527
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216931
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is an enzyme that contains both hydrolase and aminopeptidase activities. The hydrolase activity is used in the final step of the biosynthesis of leukotriene B4, a proinflammatory mediator. The aminopeptidase activity has been shown to degrade proline-glycine-proline (PGP), a neutrophil chemoattractant and biomarker for chronic obstructive pulmonary disease (COPD). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene have grossly normal phenotypes. Inflammatory reactions are reduced as are some other immunological responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T G 6: 128,558,463 (GRCm39) I5L probably benign Het
Ang6 A G 14: 44,239,419 (GRCm39) I103T possibly damaging Het
Arhgdib A G 6: 136,910,576 (GRCm39) probably benign Het
Atp13a2 C T 4: 140,733,722 (GRCm39) T1037M probably damaging Het
Bptf T C 11: 107,002,357 (GRCm39) N252D possibly damaging Het
Capn2 T C 1: 182,311,913 (GRCm39) Y387C probably damaging Het
Cdc27 T G 11: 104,396,470 (GRCm39) D817A probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cntnap3 T G 13: 64,940,244 (GRCm39) I318L probably benign Het
Cog6 A T 3: 52,914,691 (GRCm39) L255Q probably damaging Het
Ect2l T A 10: 18,016,342 (GRCm39) probably benign Het
Ercc5 T C 1: 44,203,209 (GRCm39) V282A probably damaging Het
Fras1 A G 5: 96,917,372 (GRCm39) D3464G probably damaging Het
Gabrg1 A T 5: 70,999,495 (GRCm39) L18* probably null Het
Ggcx T C 6: 72,406,131 (GRCm39) Y586H probably damaging Het
Gm5796 A T 14: 15,379,030 (GRCm39) K24* probably null Het
Gnb4 C T 3: 32,643,998 (GRCm39) V187M probably damaging Het
Gpt2 C T 8: 86,242,795 (GRCm39) Q276* probably null Het
Idnk G T 13: 58,311,239 (GRCm39) probably benign Het
Igkv3-9 A G 6: 70,565,683 (GRCm39) D94G possibly damaging Het
Ipo8 C A 6: 148,711,405 (GRCm39) L294F probably damaging Het
Itgad A T 7: 127,780,883 (GRCm39) D157V probably damaging Het
Kcnab3 A T 11: 69,222,928 (GRCm39) I392L probably benign Het
Kdm3b A G 18: 34,945,471 (GRCm39) S761G possibly damaging Het
Kif21a G A 15: 90,869,489 (GRCm39) T454M probably damaging Het
Man2a1 A G 17: 64,986,773 (GRCm39) E595G probably benign Het
Micos13 T C 17: 56,915,856 (GRCm39) E66G probably benign Het
Mvd T C 8: 123,164,773 (GRCm39) probably benign Het
Notch2 A G 3: 98,011,663 (GRCm39) probably null Het
Phf20l1 G T 15: 66,487,481 (GRCm39) probably benign Het
Rdm1 A G 11: 101,518,831 (GRCm39) S13G possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Scn4a G T 11: 106,218,958 (GRCm39) D953E probably benign Het
Sh2b1 A G 7: 126,068,440 (GRCm39) I457T probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tagap C A 17: 8,152,504 (GRCm39) T563K possibly damaging Het
Ugt1a7c T C 1: 88,023,360 (GRCm39) I173T probably benign Het
Unc79 C T 12: 103,139,755 (GRCm39) A2370V probably damaging Het
Vmn2r102 T A 17: 19,901,480 (GRCm39) C536S probably damaging Het
Vmn2r53 G A 7: 12,315,872 (GRCm39) T649I possibly damaging Het
Whrn G A 4: 63,336,334 (GRCm39) Q301* probably null Het
Zfp1007 T A 5: 109,826,386 (GRCm39) H62L possibly damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Lta4h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01946:Lta4h APN 10 93,307,232 (GRCm39) splice site probably benign
IGL02309:Lta4h APN 10 93,310,352 (GRCm39) missense probably damaging 1.00
IGL02351:Lta4h APN 10 93,314,329 (GRCm39) missense probably benign 0.28
IGL02358:Lta4h APN 10 93,314,329 (GRCm39) missense probably benign 0.28
IGL02649:Lta4h APN 10 93,308,831 (GRCm39) missense probably benign 0.00
IGL03164:Lta4h APN 10 93,306,659 (GRCm39) splice site probably benign
R0498:Lta4h UTSW 10 93,307,833 (GRCm39) splice site probably benign
R1451:Lta4h UTSW 10 93,316,590 (GRCm39) missense probably damaging 0.99
R1690:Lta4h UTSW 10 93,320,554 (GRCm39) missense probably benign
R1837:Lta4h UTSW 10 93,305,037 (GRCm39) missense probably damaging 1.00
R4202:Lta4h UTSW 10 93,306,669 (GRCm39) missense probably damaging 1.00
R4684:Lta4h UTSW 10 93,304,678 (GRCm39) missense probably benign
R5528:Lta4h UTSW 10 93,307,736 (GRCm39) missense probably damaging 1.00
R5637:Lta4h UTSW 10 93,304,731 (GRCm39) splice site probably null
R5873:Lta4h UTSW 10 93,305,052 (GRCm39) critical splice donor site probably null
R6965:Lta4h UTSW 10 93,307,759 (GRCm39) nonsense probably null
R7282:Lta4h UTSW 10 93,289,373 (GRCm39) start codon destroyed probably null 0.98
R7779:Lta4h UTSW 10 93,310,811 (GRCm39) missense probably benign 0.06
R8045:Lta4h UTSW 10 93,304,968 (GRCm39) missense probably damaging 1.00
R8281:Lta4h UTSW 10 93,289,456 (GRCm39) missense probably damaging 1.00
R8306:Lta4h UTSW 10 93,318,126 (GRCm39) missense possibly damaging 0.93
R8990:Lta4h UTSW 10 93,314,315 (GRCm39) missense probably damaging 0.99
R9042:Lta4h UTSW 10 93,318,850 (GRCm39) missense probably benign 0.01
R9090:Lta4h UTSW 10 93,310,412 (GRCm39) missense probably benign
R9271:Lta4h UTSW 10 93,310,412 (GRCm39) missense probably benign
R9768:Lta4h UTSW 10 93,308,818 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16