Incidental Mutation 'IGL03087:Bphl'
ID418141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bphl
Ensembl Gene ENSMUSG00000038286
Gene Namebiphenyl hydrolase-like (serine hydrolase, breast epithelial mucin-associated antigen)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #IGL03087
Quality Score
Status
Chromosome13
Chromosomal Location34037597-34074074 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 34073711 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 275 (H275L)
Ref Sequence ENSEMBL: ENSMUSP00000046168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040656] [ENSMUST00000056427]
Predicted Effect probably damaging
Transcript: ENSMUST00000040656
AA Change: H275L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046168
Gene: ENSMUSG00000038286
AA Change: H275L

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
Pfam:Hydrolase_4 57 208 1.1e-10 PFAM
Pfam:Abhydrolase_1 61 205 2.8e-22 PFAM
Pfam:Abhydrolase_5 62 273 3.9e-20 PFAM
Pfam:Abhydrolase_6 63 285 6e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056427
SMART Domains Protein: ENSMUSP00000060246
Gene: ENSMUSG00000058672

DomainStartEndE-ValueType
Tubulin 47 244 1.64e-65 SMART
Tubulin_C 246 383 2.39e-49 SMART
low complexity region 431 444 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223251
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine protease family of hydrolytic enzymes which contain a serine in their active site. The encoded protein may play a role in activation of the antiviral prodrug valacyclovir. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C T 5: 24,997,632 probably benign Het
Acbd5 A G 2: 23,089,710 T261A probably benign Het
Ap1g2 G A 14: 55,103,036 T331I probably damaging Het
Ap4m1 A G 5: 138,174,804 T150A probably benign Het
Arid4a G T 12: 71,075,245 R478L possibly damaging Het
Bard1 T C 1: 71,067,130 D446G probably damaging Het
Baz2a T C 10: 128,122,313 L1087P probably damaging Het
Bnc1 A G 7: 81,974,642 L279P possibly damaging Het
Ces1c T C 8: 93,118,414 I120V probably benign Het
Csmd3 T A 15: 47,977,033 Y946F probably damaging Het
Dnah8 G A 17: 30,784,144 V3606I probably benign Het
Eef2 A G 10: 81,181,247 N696S probably benign Het
Eno4 A G 19: 58,962,816 H420R possibly damaging Het
Enpp1 T A 10: 24,655,881 probably benign Het
Fbxo25 T C 8: 13,924,019 probably null Het
Glt8d1 T A 14: 31,010,096 F155I probably damaging Het
Golim4 A T 3: 75,878,673 H598Q possibly damaging Het
Hnrnpdl T A 5: 100,037,601 E149D probably damaging Het
Ifngr2 G T 16: 91,563,004 *333L probably null Het
Ift88 T C 14: 57,477,957 S486P probably benign Het
Igsf9 T C 1: 172,490,743 I150T probably benign Het
Jag2 G A 12: 112,913,948 L670F possibly damaging Het
Kcnc2 T A 10: 112,455,747 I280N probably benign Het
Kif18a A G 2: 109,318,117 probably benign Het
Lct A G 1: 128,300,375 L1127P possibly damaging Het
Lonrf1 A T 8: 36,225,551 probably null Het
Lyst T A 13: 13,635,056 I437N probably damaging Het
Map3k1 A G 13: 111,749,025 S1453P probably benign Het
Mcmdc2 A G 1: 9,930,945 M482V possibly damaging Het
Mical1 T C 10: 41,482,690 S535P probably damaging Het
Myh3 T C 11: 67,090,972 F765L probably damaging Het
Nat8f6 A T 6: 85,808,517 Y217N probably damaging Het
Ndufaf1 A G 2: 119,655,799 probably benign Het
Neurod6 A T 6: 55,678,775 C292* probably null Het
Olfr1106 A T 2: 87,049,012 S75T possibly damaging Het
Olfr1255 A G 2: 89,816,671 E109G probably damaging Het
Olfr530 T A 7: 140,373,092 I173F probably damaging Het
Olfr809 A T 10: 129,776,261 M116L probably damaging Het
Olfr828 T C 9: 18,816,084 D70G probably damaging Het
Pcdhac2 A G 18: 37,145,682 N572D probably damaging Het
Pfpl A G 19: 12,428,877 N164S probably benign Het
Pi4kb A G 3: 94,984,764 R264G probably benign Het
Pla2g2c T A 4: 138,731,612 F10I probably benign Het
Rag2 G A 2: 101,630,214 V290I probably benign Het
Rhot2 G A 17: 25,841,141 probably benign Het
Rps6kc1 T C 1: 190,871,711 Y238C probably damaging Het
Scyl2 G T 10: 89,652,968 A495D possibly damaging Het
Sept4 T A 11: 87,585,245 probably benign Het
Serpina5 G T 12: 104,101,733 A18S probably benign Het
Slc25a11 T C 11: 70,645,207 T234A probably benign Het
Slc44a2 C T 9: 21,346,765 T435I probably benign Het
Tekt2 T A 4: 126,324,867 Q31L possibly damaging Het
Tfpi A G 2: 84,444,045 V199A possibly damaging Het
Trap1 G T 16: 4,044,701 probably null Het
Trmt1 A G 8: 84,695,233 Y213C probably damaging Het
Ubr4 C T 4: 139,450,357 R3184* probably null Het
Uroc1 G T 6: 90,363,103 probably benign Het
Vmn1r19 A G 6: 57,404,491 I10V probably benign Het
Zfhx2 G A 14: 55,072,845 A748V possibly damaging Het
Other mutations in Bphl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02966:Bphl APN 13 34063997 missense probably damaging 1.00
R0127:Bphl UTSW 13 34064046 unclassified probably benign
R0494:Bphl UTSW 13 34037771 makesense probably null
R1475:Bphl UTSW 13 34060524 missense probably benign
R5862:Bphl UTSW 13 34063984 missense possibly damaging 0.87
R6849:Bphl UTSW 13 34050269 splice site probably null
R7325:Bphl UTSW 13 34050341 missense possibly damaging 0.49
R7528:Bphl UTSW 13 34060490 missense probably damaging 1.00
R7952:Bphl UTSW 13 34046797 missense probably benign 0.10
R8497:Bphl UTSW 13 34037723 missense possibly damaging 0.53
X0009:Bphl UTSW 13 34037763 missense probably benign 0.06
X0010:Bphl UTSW 13 34037763 missense probably benign 0.06
X0011:Bphl UTSW 13 34037763 missense probably benign 0.06
X0014:Bphl UTSW 13 34037763 missense probably benign 0.06
X0017:Bphl UTSW 13 34037763 missense probably benign 0.06
X0021:Bphl UTSW 13 34037763 missense probably benign 0.06
X0023:Bphl UTSW 13 34037763 missense probably benign 0.06
X0033:Bphl UTSW 13 34037763 missense probably benign 0.06
X0064:Bphl UTSW 13 34037763 missense probably benign 0.06
X0067:Bphl UTSW 13 34037763 missense probably benign 0.06
Posted On2016-08-02