Incidental Mutation 'R6849:Bphl'
ID534929
Institutional Source Beutler Lab
Gene Symbol Bphl
Ensembl Gene ENSMUSG00000038286
Gene Namebiphenyl hydrolase-like (serine hydrolase, breast epithelial mucin-associated antigen)
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #R6849 (G1)
Quality Score225.009
Status Validated
Chromosome13
Chromosomal Location34037597-34074074 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 34050269 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040656] [ENSMUST00000222658] [ENSMUST00000222691]
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: 124,639,522 Q161K probably damaging Het
4930578I06Rik A T 14: 63,986,238 W30R probably damaging Het
4930578I06Rik G T 14: 63,986,239 N29K probably benign Het
Aldh6a1 A G 12: 84,443,787 V18A probably benign Het
Apoa5 A G 9: 46,270,000 K125E probably benign Het
C2cd3 T A 7: 100,406,927 V514E probably damaging Het
C530008M17Rik C A 5: 76,857,010 A406E unknown Het
C530008M17Rik C T 5: 76,857,157 A455V unknown Het
Cacna1s G A 1: 136,092,694 R823Q probably benign Het
Cep192 A G 18: 67,812,435 D202G probably benign Het
Chd5 A T 4: 152,378,538 N1420Y probably damaging Het
Cnot10 A T 9: 114,631,936 D55E probably benign Het
Cntn1 T A 15: 92,305,246 I803N probably damaging Het
Col7a1 G T 9: 108,975,053 V2217L unknown Het
Cpne9 T G 6: 113,302,118 V491G probably damaging Het
Csnk2a1 C A 2: 152,250,564 H18Q probably benign Het
D130040H23Rik T A 8: 69,302,651 Y253* probably null Het
Dnah14 A T 1: 181,808,945 M4321L probably benign Het
Dnah5 A G 15: 28,278,624 T1122A probably benign Het
Eif4g1 A G 16: 20,680,745 I515V probably benign Het
Fam214a A C 9: 75,009,312 N398H probably damaging Het
Fbn1 T C 2: 125,321,691 K2082E possibly damaging Het
Fstl1 A G 16: 37,821,159 K99R probably benign Het
Gar1 T C 3: 129,829,389 N117S probably damaging Het
Gm3238 A T 10: 77,770,910 probably benign Het
Gm32742 C T 9: 51,138,714 M1528I probably benign Het
H2-T3 T C 17: 36,189,805 I49V probably benign Het
Hyou1 A G 9: 44,387,264 I581V probably damaging Het
Itk T C 11: 46,331,935 N563S probably damaging Het
Lingo1 A G 9: 56,619,616 L563P probably damaging Het
Lipc A G 9: 70,818,847 probably null Het
Map4k3 A C 17: 80,630,413 probably null Het
Mctp2 C T 7: 72,211,718 C393Y probably damaging Het
Mei1 T A 15: 82,079,945 L229M possibly damaging Het
Olfr1501 G T 19: 13,838,839 C111* probably null Het
Olfr309 T C 7: 86,307,040 I24M possibly damaging Het
Pcnx2 A G 8: 125,861,210 V833A probably damaging Het
Pde8b T C 13: 95,047,799 N388D possibly damaging Het
Pi4ka G A 16: 17,303,421 A1197V possibly damaging Het
Psd A G 19: 46,317,746 Y36H probably damaging Het
Scn8a T A 15: 100,955,587 probably null Het
Shisa6 A G 11: 66,525,501 V155A probably benign Het
Slc45a3 T A 1: 131,977,964 C242S probably damaging Het
Sorbs1 G C 19: 40,376,800 R180G probably benign Het
Tmc3 T A 7: 83,586,357 I54K probably damaging Het
Tmprss11g T A 5: 86,496,632 I118F probably benign Het
Ttn T A 2: 76,914,343 D5454V possibly damaging Het
Ube2f A G 1: 91,254,213 probably null Het
Ubr7 T C 12: 102,758,083 S19P probably damaging Het
Vav3 T C 3: 109,521,466 V371A probably damaging Het
Vmn2r28 A G 7: 5,480,807 V798A probably damaging Het
Vmn2r95 T G 17: 18,443,919 C467G probably damaging Het
Vmn2r95 G T 17: 18,443,920 C467F probably damaging Het
Vps13b A G 15: 35,905,309 D3325G probably damaging Het
Wnk2 T C 13: 49,067,358 T1158A probably damaging Het
Zfp616 T A 11: 74,085,450 N848K possibly damaging Het
Other mutations in Bphl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02966:Bphl APN 13 34063997 missense probably damaging 1.00
IGL03087:Bphl APN 13 34073711 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
R7325:Bphl UTSW 13 34050341 missense possibly damaging 0.49
R7528:Bphl UTSW 13 34060490 missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TGCTGCTGATTCAGTGATTCCG -3'
(R):5'- GCACTTACCCTGGTAAATCCTGC -3'

Sequencing Primer
(F):5'- TCCAAGAGGAAGAAGATATGATTCCC -3'
(R):5'- CTGTCTTCCTCGGTGACATAGG -3'
Posted On2018-09-12