Incidental Mutation 'IGL02358:Lta4h'
ID 290347
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 # IGL02358
Quality Score
Status
Chromosome 10
Chromosomal Location 93289273-93320737 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93314329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 467 (N467I)
Ref Sequence ENSEMBL: ENSMUSP00000016033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016033]
AlphaFold P24527
Predicted Effect probably benign
Transcript: ENSMUST00000016033
AA Change: N467I

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000016033
Gene: ENSMUSG00000015889
AA Change: N467I

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: ENSMUST00000216931
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217556
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,474,418 (GRCm39) T448A possibly damaging Het
Adamtsl1 T A 4: 86,075,110 (GRCm39) probably null Het
Adgra3 A G 5: 50,215,900 (GRCm39) V73A probably benign Het
Adgre4 G A 17: 56,150,209 (GRCm39) R600Q probably benign Het
Aggf1 T C 13: 95,489,358 (GRCm39) probably benign Het
Aktip C T 8: 91,853,520 (GRCm39) V96I possibly damaging Het
Atm A G 9: 53,433,476 (GRCm39) I258T probably benign Het
Baz1b C T 5: 135,273,160 (GRCm39) T1428I probably damaging Het
C3ar1 A T 6: 122,826,934 (GRCm39) Y428N probably damaging Het
Cadps A G 14: 12,597,380 (GRCm38) S437P probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Cenpq A G 17: 41,235,223 (GRCm39) L213P probably damaging Het
Cept1 A G 3: 106,446,504 (GRCm39) probably null Het
Cln6 A G 9: 62,754,407 (GRCm39) I150V probably benign Het
Cyb5r3 T C 15: 83,045,136 (GRCm39) T94A probably benign Het
Cyp2c67 A G 19: 39,605,861 (GRCm39) M345T probably damaging Het
Dapk2 T A 9: 66,153,805 (GRCm39) I187N probably damaging Het
Dkk2 A G 3: 131,883,673 (GRCm39) D191G probably benign Het
Dnah8 T A 17: 30,986,785 (GRCm39) F3145I probably damaging Het
Dock1 A C 7: 134,710,548 (GRCm39) D1190A possibly damaging Het
Ehhadh T A 16: 21,581,620 (GRCm39) L457F probably damaging Het
Ercc6l2 T C 13: 64,001,497 (GRCm39) L552P probably damaging Het
Ghrhr T G 6: 55,361,138 (GRCm39) I284S probably damaging Het
Gm10288 A T 3: 146,544,954 (GRCm39) noncoding transcript Het
Gp6 T G 7: 4,397,507 (GRCm39) I19L probably benign Het
Gria4 G A 9: 4,456,206 (GRCm39) S698L possibly damaging Het
Ifng A T 10: 118,278,410 (GRCm39) I53F possibly damaging Het
Kazn A C 4: 141,874,327 (GRCm39) probably null Het
Khk A T 5: 31,085,848 (GRCm39) I136F probably damaging Het
Krtap9-3 T A 11: 99,488,885 (GRCm39) probably benign Het
Lnx1 T A 5: 74,788,027 (GRCm39) N98Y probably damaging Het
Lsp1 T C 7: 142,042,679 (GRCm39) probably null Het
Mcmbp C A 7: 128,311,505 (GRCm39) probably null Het
Me2 A T 18: 73,931,038 (GRCm39) I85K probably benign Het
Muc4 C T 16: 32,569,804 (GRCm39) T288I possibly damaging Het
Nadsyn1 A T 7: 143,353,649 (GRCm39) Y525N probably damaging Het
Nt5e G A 9: 88,209,946 (GRCm39) V70M probably damaging Het
Or52e4 G A 7: 104,706,182 (GRCm39) G243D probably damaging Het
Or8b36 A T 9: 37,937,332 (GRCm39) I77L possibly damaging Het
Or9k7 T G 10: 130,046,603 (GRCm39) Y132S probably damaging Het
Pkd1l3 A G 8: 110,373,129 (GRCm39) probably benign Het
Ppm1d A T 11: 85,236,541 (GRCm39) E440V probably damaging Het
Pramel32 A T 4: 88,546,127 (GRCm39) I405N probably damaging Het
Ripor2 A T 13: 24,915,572 (GRCm39) E1047D probably damaging Het
Rwdd2b G A 16: 87,234,336 (GRCm39) A18V probably benign Het
Serpina5 G T 12: 104,068,384 (GRCm39) K148N probably damaging Het
Setx A G 2: 29,036,976 (GRCm39) K1154E probably benign Het
Spata31 T A 13: 65,069,032 (GRCm39) N393K probably benign Het
Spcs2 T C 7: 99,498,241 (GRCm39) K81R probably damaging Het
Stt3b T A 9: 115,079,975 (GRCm39) M646L possibly damaging Het
Suco T C 1: 161,646,195 (GRCm39) T1169A probably benign Het
Susd1 A T 4: 59,427,985 (GRCm39) Y66* probably null Het
Trim34a T A 7: 103,910,441 (GRCm39) C414* probably null Het
Trim58 G A 11: 58,542,176 (GRCm39) G379S probably damaging Het
Vmn2r50 T A 7: 9,787,002 (GRCm39) Q35L probably benign Het
Zc3hc1 C A 6: 30,376,057 (GRCm39) G168W probably benign Het
Zfp418 T C 7: 7,177,690 (GRCm39) probably benign Het
Zfp57 G A 17: 37,320,919 (GRCm39) V258I probably benign Het
Zng1 A T 19: 24,909,026 (GRCm39) probably null 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
IGL02589:Lta4h APN 10 93,310,793 (GRCm39) missense probably benign 0.01
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