Incidental Mutation 'R6849:Bphl'
ID 534929
Institutional Source Beutler Lab
Gene Symbol Bphl
Ensembl Gene ENSMUSG00000038286
Gene Name biphenyl hydrolase like
Synonyms 5730533B08Rik, 2010012D11Rik
MMRRC Submission 044953-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R6849 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 34221611-34258055 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 34234252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040656] [ENSMUST00000222658] [ENSMUST00000222691]
AlphaFold Q8R164
Predicted Effect probably null
Transcript: ENSMUST00000040656
SMART Domains Protein: ENSMUSP00000046168
Gene: ENSMUSG00000038286

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: ENSMUST00000222658
Predicted Effect probably benign
Transcript: ENSMUST00000222691
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (55/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022B05Rik G T 8: 125,366,261 (GRCm39) Q161K probably damaging Het
4930578I06Rik A T 14: 64,223,687 (GRCm39) W30R probably damaging Het
4930578I06Rik G T 14: 64,223,688 (GRCm39) N29K probably benign Het
Aldh6a1 A G 12: 84,490,561 (GRCm39) V18A probably benign Het
Apoa5 A G 9: 46,181,298 (GRCm39) K125E probably benign Het
Atosa A C 9: 74,916,594 (GRCm39) N398H probably damaging Het
C2cd3 T A 7: 100,056,134 (GRCm39) V514E probably damaging Het
Cacna1s G A 1: 136,020,432 (GRCm39) R823Q probably benign Het
Cep192 A G 18: 67,945,506 (GRCm39) D202G probably benign Het
Chd5 A T 4: 152,462,995 (GRCm39) N1420Y probably damaging Het
Cnot10 A T 9: 114,461,004 (GRCm39) D55E probably benign Het
Cntn1 T A 15: 92,203,127 (GRCm39) I803N probably damaging Het
Col7a1 G T 9: 108,804,121 (GRCm39) V2217L unknown Het
Cpne9 T G 6: 113,279,079 (GRCm39) V491G probably damaging Het
Cracd C A 5: 77,004,857 (GRCm39) A406E unknown Het
Cracd C T 5: 77,005,004 (GRCm39) A455V unknown Het
Csnk2a1 C A 2: 152,092,484 (GRCm39) H18Q probably benign Het
D130040H23Rik T A 8: 69,755,303 (GRCm39) Y253* probably null Het
Dnah14 A T 1: 181,636,510 (GRCm39) M4321L probably benign Het
Dnah5 A G 15: 28,278,770 (GRCm39) T1122A probably benign Het
Eif4g1 A G 16: 20,499,495 (GRCm39) I515V probably benign Het
Fbn1 T C 2: 125,163,611 (GRCm39) K2082E possibly damaging Het
Fstl1 A G 16: 37,641,521 (GRCm39) K99R probably benign Het
Gar1 T C 3: 129,623,038 (GRCm39) N117S probably damaging Het
Gm3238 A T 10: 77,606,744 (GRCm39) probably benign Het
Gm32742 C T 9: 51,050,014 (GRCm39) M1528I probably benign Het
H2-T3 T C 17: 36,500,697 (GRCm39) I49V probably benign Het
Hyou1 A G 9: 44,298,561 (GRCm39) I581V probably damaging Het
Itk T C 11: 46,222,762 (GRCm39) N563S probably damaging Het
Lingo1 A G 9: 56,526,900 (GRCm39) L563P probably damaging Het
Lipc A G 9: 70,726,129 (GRCm39) probably null Het
Map4k3 A C 17: 80,937,842 (GRCm39) probably null Het
Mctp2 C T 7: 71,861,466 (GRCm39) C393Y probably damaging Het
Mei1 T A 15: 81,964,146 (GRCm39) L229M possibly damaging Het
Or13g1 T C 7: 85,956,248 (GRCm39) I24M possibly damaging Het
Or9i2 G T 19: 13,816,203 (GRCm39) C111* probably null Het
Pcnx2 A G 8: 126,587,949 (GRCm39) V833A probably damaging Het
Pde8b T C 13: 95,184,307 (GRCm39) N388D possibly damaging Het
Pi4ka G A 16: 17,121,285 (GRCm39) A1197V possibly damaging Het
Psd A G 19: 46,306,185 (GRCm39) Y36H probably damaging Het
Scn8a T A 15: 100,853,468 (GRCm39) probably null Het
Shisa6 A G 11: 66,416,327 (GRCm39) V155A probably benign Het
Slc45a3 T A 1: 131,905,702 (GRCm39) C242S probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Tmc3 T A 7: 83,235,565 (GRCm39) I54K probably damaging Het
Tmprss11g T A 5: 86,644,491 (GRCm39) I118F probably benign Het
Ttn T A 2: 76,744,687 (GRCm39) D5454V possibly damaging Het
Ube2f A G 1: 91,181,935 (GRCm39) probably null Het
Ubr7 T C 12: 102,724,342 (GRCm39) S19P probably damaging Het
Vav3 T C 3: 109,428,782 (GRCm39) V371A probably damaging Het
Vmn2r28 A G 7: 5,483,806 (GRCm39) V798A probably damaging Het
Vmn2r95 T G 17: 18,664,181 (GRCm39) C467G probably damaging Het
Vmn2r95 G T 17: 18,664,182 (GRCm39) C467F probably damaging Het
Vps13b A G 15: 35,905,455 (GRCm39) D3325G probably damaging Het
Wnk2 T C 13: 49,220,834 (GRCm39) T1158A probably damaging Het
Zfp616 T A 11: 73,976,276 (GRCm39) N848K possibly damaging Het
Other mutations in Bphl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02966:Bphl APN 13 34,247,980 (GRCm39) missense probably damaging 1.00
IGL03087:Bphl APN 13 34,257,694 (GRCm39) missense probably damaging 1.00
R0127:Bphl UTSW 13 34,248,029 (GRCm39) unclassified probably benign
R0494:Bphl UTSW 13 34,221,754 (GRCm39) makesense probably null
R1475:Bphl UTSW 13 34,244,507 (GRCm39) missense probably benign
R5862:Bphl UTSW 13 34,247,967 (GRCm39) missense possibly damaging 0.87
R7325:Bphl UTSW 13 34,234,324 (GRCm39) missense possibly damaging 0.49
R7528:Bphl UTSW 13 34,244,473 (GRCm39) missense probably damaging 1.00
R7952:Bphl UTSW 13 34,230,780 (GRCm39) missense probably benign 0.10
R8497:Bphl UTSW 13 34,221,706 (GRCm39) missense possibly damaging 0.53
R8790:Bphl UTSW 13 34,244,468 (GRCm39) missense probably benign 0.01
R8907:Bphl UTSW 13 34,230,930 (GRCm39) missense possibly damaging 0.83
R9495:Bphl UTSW 13 34,234,312 (GRCm39) missense probably benign 0.00
X0009:Bphl UTSW 13 34,221,746 (GRCm39) missense probably benign 0.06
X0010:Bphl UTSW 13 34,221,746 (GRCm39) missense probably benign 0.06
X0011:Bphl UTSW 13 34,221,746 (GRCm39) missense probably benign 0.06
X0014:Bphl UTSW 13 34,221,746 (GRCm39) missense probably benign 0.06
X0017:Bphl UTSW 13 34,221,746 (GRCm39) missense probably benign 0.06
X0021:Bphl UTSW 13 34,221,746 (GRCm39) missense probably benign 0.06
X0023:Bphl UTSW 13 34,221,746 (GRCm39) missense probably benign 0.06
X0033:Bphl UTSW 13 34,221,746 (GRCm39) missense probably benign 0.06
X0064:Bphl UTSW 13 34,221,746 (GRCm39) missense probably benign 0.06
X0067:Bphl UTSW 13 34,221,746 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TGCTGCTGATTCAGTGATTCCG -3'
(R):5'- GCACTTACCCTGGTAAATCCTGC -3'

Sequencing Primer
(F):5'- TCCAAGAGGAAGAAGATATGATTCCC -3'
(R):5'- CTGTCTTCCTCGGTGACATAGG -3'
Posted On 2018-09-12