Incidental Mutation 'R1837:Lta4h'
ID 205414
Institutional Source Beutler Lab
Gene Symbol Lta4h
Ensembl Gene ENSMUSG00000015889
Gene Name leukotriene A4 hydrolase
Synonyms LTA4 hydrodase
MMRRC Submission 039864-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1837 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 93289273-93320737 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 93305037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 280 (T280M)
Ref Sequence ENSEMBL: ENSMUSP00000016033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016033]
AlphaFold P24527
Predicted Effect probably damaging
Transcript: ENSMUST00000016033
AA Change: T280M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016033
Gene: ENSMUSG00000015889
AA Change: T280M

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: ENSMUST00000216146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216174
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.6%
Validation Efficiency 99% (86/87)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl10 G T 2: 154,394,962 (GRCm39) G305W probably damaging Het
Actr3b A T 5: 26,030,157 (GRCm39) T74S probably benign Het
Add2 A G 6: 86,095,540 (GRCm39) E652G probably damaging Het
Alg9 T A 9: 50,717,615 (GRCm39) V83D probably damaging Het
Atp13a2 T A 4: 140,721,643 (GRCm39) Y244* probably null Het
BB014433 C G 8: 15,092,629 (GRCm39) V75L unknown Het
Bcr A G 10: 75,003,932 (GRCm39) probably benign Het
Begain G A 12: 109,001,249 (GRCm39) probably benign Het
Bzw1 A G 1: 58,439,277 (GRCm39) K67E probably damaging Het
Ccdc141 T C 2: 76,842,009 (GRCm39) E1474G probably benign Het
Cdc73 T A 1: 143,543,395 (GRCm39) T314S possibly damaging Het
Cfap206 T C 4: 34,728,813 (GRCm39) T31A probably damaging Het
Cfap58 G A 19: 48,017,578 (GRCm39) E813K probably damaging Het
Clstn2 C A 9: 97,465,593 (GRCm39) A133S probably benign Het
Col14a1 A T 15: 55,245,891 (GRCm39) D465V unknown Het
Col2a1 C T 15: 97,894,522 (GRCm39) probably benign Het
Dab2 A G 15: 6,365,957 (GRCm39) probably benign Het
Eme1 T C 11: 94,536,787 (GRCm39) D464G probably benign Het
Eml6 T C 11: 29,699,802 (GRCm39) probably null Het
Ern1 C A 11: 106,349,783 (GRCm39) L44F probably damaging Het
Fam111a T A 19: 12,564,816 (GRCm39) S188R probably benign Het
Fam151b A T 13: 92,610,639 (GRCm39) probably benign Het
Fmo6 T C 1: 162,750,379 (GRCm39) N226D probably benign Het
Ggt1 A G 10: 75,415,128 (GRCm39) D214G probably benign Het
Gm14226 A G 2: 154,866,930 (GRCm39) I296V probably benign Het
Gm9915 A T 1: 42,269,847 (GRCm39) noncoding transcript Het
Heatr5b T C 17: 79,128,180 (GRCm39) D485G possibly damaging Het
Helz2 A T 2: 180,871,082 (GRCm39) I2785N probably damaging Het
Htt C T 5: 34,976,367 (GRCm39) T723M probably benign Het
Hydin C A 8: 111,296,257 (GRCm39) H3595Q probably benign Het
Il6ra T C 3: 89,797,579 (GRCm39) D96G probably benign Het
Kif5a G A 10: 127,072,684 (GRCm39) Q702* probably null Het
Klhdc7a G T 4: 139,694,381 (GRCm39) P189T probably benign Het
Krt7 A G 15: 101,317,463 (GRCm39) D252G probably benign Het
Lad1 C A 1: 135,757,444 (GRCm39) D394E probably benign Het
Lhx8 A T 3: 154,033,692 (GRCm39) C38S possibly damaging Het
Magi2 A T 5: 20,670,825 (GRCm39) T163S probably damaging Het
Med1 G T 11: 98,060,238 (GRCm39) D230E probably damaging Het
Mmp1b A T 9: 7,386,409 (GRCm39) F171I probably damaging Het
Mprip T C 11: 59,657,571 (GRCm39) V801A probably damaging Het
Mtrf1 A G 14: 79,639,273 (GRCm39) E135G possibly damaging Het
Muc5ac T A 7: 141,360,823 (GRCm39) M1378K probably benign Het
Myo3a A T 2: 22,467,604 (GRCm39) Q286L possibly damaging Het
Ndor1 C T 2: 25,138,408 (GRCm39) G391R probably damaging Het
Nefl C T 14: 68,324,075 (GRCm39) R438C probably damaging Het
Nlrp3 G A 11: 59,439,742 (GRCm39) V440I probably benign Het
Notch3 A T 17: 32,343,296 (GRCm39) L1959Q probably damaging Het
Noto A G 6: 85,401,159 (GRCm39) T63A probably benign Het
Oc90 G A 15: 65,761,529 (GRCm39) T163M probably damaging Het
Or1l4 T A 2: 37,092,114 (GRCm39) M287K probably benign Het
Or4c114 A T 2: 88,905,176 (GRCm39) Y86* probably null Het
Or5an10 A G 19: 12,275,740 (GRCm39) V252A probably damaging Het
Pdpr C A 8: 111,861,366 (GRCm39) P787T probably damaging Het
Phlda1 A G 10: 111,343,092 (GRCm39) Q276R probably benign Het
Ptpn21 T G 12: 98,699,885 (GRCm39) K10Q probably damaging Het
Ptprb A G 10: 116,177,531 (GRCm39) E1364G probably benign Het
Rabep1 T A 11: 70,795,484 (GRCm39) W237R probably damaging Het
Rai1 A T 11: 60,080,224 (GRCm39) K1429N probably damaging Het
Rapgef1 A G 2: 29,627,438 (GRCm39) I1027M probably damaging Het
Rit1 C G 3: 88,636,477 (GRCm39) T127S probably damaging Het
Rpap1 A C 2: 119,600,366 (GRCm39) probably null Het
Senp7 T A 16: 55,978,879 (GRCm39) C471S probably benign Het
Slc16a14 A G 1: 84,890,120 (GRCm39) V395A probably benign Het
Slc45a1 C T 4: 150,722,916 (GRCm39) G323S probably benign Het
Syne2 A T 12: 76,014,434 (GRCm39) E3208D probably damaging Het
Tap1 C T 17: 34,407,083 (GRCm39) A77V possibly damaging Het
Ticam1 T C 17: 56,577,799 (GRCm39) E432G possibly damaging Het
Tmem192 C A 8: 65,416,992 (GRCm39) probably benign Het
Trub1 T C 19: 57,441,461 (GRCm39) V28A probably benign Het
Ttc21b A T 2: 66,028,106 (GRCm39) L1121H probably benign Het
Ttc38 A G 15: 85,735,764 (GRCm39) D290G probably damaging Het
Ulk1 C T 5: 110,937,247 (GRCm39) G683D probably damaging Het
Vmn1r122 A T 7: 20,867,291 (GRCm39) F255I probably benign Het
Vmn2r68 T A 7: 84,882,886 (GRCm39) I289F probably damaging Het
Vps39 A T 2: 120,155,878 (GRCm39) L514H probably damaging Het
Wdr48 T G 9: 119,734,482 (GRCm39) S134A probably damaging Het
Yap1 A T 9: 7,962,350 (GRCm39) Y139N probably damaging Het
Ylpm1 T C 12: 85,076,107 (GRCm39) V486A possibly damaging Het
Zbtb38 T C 9: 96,569,048 (GRCm39) T679A probably benign Het
Zfp292 A G 4: 34,810,264 (GRCm39) S927P probably damaging Het
Zfp324 C T 7: 12,704,156 (GRCm39) T115I probably benign Het
Zfp523 T A 17: 28,413,967 (GRCm39) I34N probably damaging Het
Zfp945 A T 17: 23,070,247 (GRCm39) C551S probably damaging Het
Zfp958 A G 8: 4,678,590 (GRCm39) H205R probably damaging Het
Zfp974 G A 7: 27,609,781 (GRCm39) P648L possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- TCACAGAAAGCCGTTTTGCAC -3'
(R):5'- AAGCTCTTCCCATCTGTGTATG -3'

Sequencing Primer
(F):5'- CAGAAAGCCGTTTTGCACTTTTAAG -3'
(R):5'- CTGGTCCAGGATTAGTGTATACAACC -3'
Posted On 2014-06-23