Incidental Mutation 'IGL02527:Dpep1'
ID 297134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpep1
Ensembl Gene ENSMUSG00000019278
Gene Name dipeptidase 1
Synonyms MBD
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # IGL02527
Quality Score
Status
Chromosome 8
Chromosomal Location 123913069-123928551 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123925487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 47 (F47L)
Ref Sequence ENSEMBL: ENSMUSP00000148609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019422] [ENSMUST00000127664] [ENSMUST00000212409] [ENSMUST00000212773]
AlphaFold P31428
Predicted Effect probably benign
Transcript: ENSMUST00000019422
AA Change: F47L

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000019422
Gene: ENSMUSG00000019278
AA Change: F47L

DomainStartEndE-ValueType
Pfam:Peptidase_M19 25 352 4.1e-122 PFAM
low complexity region 398 410 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000212409
AA Change: F47L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212773
AA Change: F47L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for disruption of this gene ar phenotypically normal although defects have been noted in the conversion of leukotriene D4 to leukotrience E4. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,638,392 (GRCm39) V868A probably damaging Het
Adam25 T A 8: 41,206,785 (GRCm39) I17K possibly damaging Het
Arap2 A T 5: 62,906,650 (GRCm39) M123K probably benign Het
Asic3 A G 5: 24,621,275 (GRCm39) M332V probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Cand1 A T 10: 119,042,712 (GRCm39) M1126K probably damaging Het
Capn3 A G 2: 120,334,966 (GRCm39) T818A probably damaging Het
Cda G A 4: 138,070,832 (GRCm39) Q104* probably null Het
Cfhr4 T C 1: 139,680,783 (GRCm39) N245S probably damaging Het
Cpeb1 T C 7: 81,009,635 (GRCm39) D234G probably damaging Het
Cpq A G 15: 33,302,509 (GRCm39) Y220C probably damaging Het
Diaph3 T C 14: 87,047,795 (GRCm39) K1026R possibly damaging Het
Dppa4 G T 16: 48,109,456 (GRCm39) R66L possibly damaging Het
Elac1 C A 18: 73,880,304 (GRCm39) E31* probably null Het
Fggy A G 4: 95,585,306 (GRCm39) K62E probably damaging Het
Ficd T A 5: 113,875,027 (GRCm39) M32K probably benign Het
Foxd4 A G 19: 24,877,178 (GRCm39) S341P probably benign Het
Gnb4 G T 3: 32,644,015 (GRCm39) T181K probably benign Het
Grin2b T A 6: 135,900,389 (GRCm39) Y164F probably damaging Het
Hmmr A G 11: 40,598,932 (GRCm39) L564P probably damaging Het
Hsd17b4 G A 18: 50,293,231 (GRCm39) V257I probably benign Het
Itga10 C A 3: 96,562,940 (GRCm39) probably benign Het
Kcnk18 T C 19: 59,223,707 (GRCm39) V284A probably damaging Het
Klf11 T A 12: 24,705,322 (GRCm39) S259T probably benign Het
Kmt2d C T 15: 98,739,628 (GRCm39) probably benign Het
Manea A G 4: 26,336,619 (GRCm39) probably null Het
Mybl1 T C 1: 9,760,373 (GRCm39) H75R probably damaging Het
Neb G A 2: 52,153,959 (GRCm39) T2384M probably damaging Het
Neb A G 2: 52,039,225 (GRCm39) I6938T probably benign Het
Ntrk3 T C 7: 78,101,697 (GRCm39) D412G probably benign Het
Olah T C 2: 3,343,979 (GRCm39) E211G probably damaging Het
Or10ag2 T C 2: 87,249,181 (GRCm39) L261S probably damaging Het
Paxbp1 A T 16: 90,834,161 (GRCm39) N208K possibly damaging Het
Prrc1 T A 18: 57,522,419 (GRCm39) M417K probably benign Het
Ptprq G A 10: 107,522,424 (GRCm39) T543M probably benign Het
Rasal1 T C 5: 120,804,469 (GRCm39) V447A probably damaging Het
Rbl1 T C 2: 157,035,968 (GRCm39) E287G probably benign Het
Rusf1 T A 7: 127,875,403 (GRCm39) T317S possibly damaging Het
Tec A G 5: 72,936,758 (GRCm39) probably null Het
Tex26 A G 5: 149,380,407 (GRCm39) D61G probably damaging Het
Tgfb1i1 G A 7: 127,851,734 (GRCm39) probably benign Het
Tmem132c T C 5: 127,436,675 (GRCm39) Y55H possibly damaging Het
Tmem63a T A 1: 180,780,539 (GRCm39) probably null Het
Umod C T 7: 119,068,690 (GRCm39) G452D probably damaging Het
Vcan G A 13: 89,838,776 (GRCm39) T2256I possibly damaging Het
Vmn1r31 A T 6: 58,449,778 (GRCm39) I29K probably benign Het
Vmn2r117 A G 17: 23,696,199 (GRCm39) Y403H possibly damaging Het
Vmn2r124 A T 17: 18,286,764 (GRCm39) probably null Het
Vmn2r65 T A 7: 84,595,724 (GRCm39) K320M possibly damaging Het
Other mutations in Dpep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00811:Dpep1 APN 8 123,926,354 (GRCm39) splice site probably benign
IGL02354:Dpep1 APN 8 123,926,957 (GRCm39) missense probably benign
IGL02361:Dpep1 APN 8 123,926,957 (GRCm39) missense probably benign
IGL02723:Dpep1 APN 8 123,920,888 (GRCm39) missense possibly damaging 0.95
R0190:Dpep1 UTSW 8 123,927,447 (GRCm39) missense probably benign 0.21
R1348:Dpep1 UTSW 8 123,925,899 (GRCm39) missense probably benign 0.02
R1719:Dpep1 UTSW 8 123,927,486 (GRCm39) missense possibly damaging 0.67
R2060:Dpep1 UTSW 8 123,927,130 (GRCm39) missense probably damaging 0.99
R2081:Dpep1 UTSW 8 123,926,117 (GRCm39) missense probably damaging 0.97
R2279:Dpep1 UTSW 8 123,920,883 (GRCm39) missense probably benign 0.04
R3931:Dpep1 UTSW 8 123,925,518 (GRCm39) missense possibly damaging 0.73
R4027:Dpep1 UTSW 8 123,920,892 (GRCm39) missense probably benign 0.12
R4836:Dpep1 UTSW 8 123,927,106 (GRCm39) missense probably damaging 1.00
R5007:Dpep1 UTSW 8 123,926,117 (GRCm39) missense probably damaging 0.97
R5149:Dpep1 UTSW 8 123,927,177 (GRCm39) missense probably benign 0.01
R5268:Dpep1 UTSW 8 123,920,828 (GRCm39) missense probably benign 0.12
R5774:Dpep1 UTSW 8 123,926,721 (GRCm39) missense probably damaging 1.00
R6041:Dpep1 UTSW 8 123,927,394 (GRCm39) missense probably damaging 0.99
R6335:Dpep1 UTSW 8 123,927,391 (GRCm39) missense probably damaging 1.00
R7705:Dpep1 UTSW 8 123,927,460 (GRCm39) missense possibly damaging 0.94
R7993:Dpep1 UTSW 8 123,927,460 (GRCm39) missense possibly damaging 0.94
R8130:Dpep1 UTSW 8 123,926,965 (GRCm39) missense probably damaging 1.00
R8810:Dpep1 UTSW 8 123,926,764 (GRCm39) missense probably benign 0.02
T0975:Dpep1 UTSW 8 123,927,727 (GRCm39) missense probably damaging 0.99
X0005:Dpep1 UTSW 8 123,927,727 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16