Mutagenetix > Incidental Mutation

Incidental Mutation 'R1475:Bphl'

164014

Institutional Source

Beutler Lab

Gene Symbol

Bphl

Ensembl Gene

ENSMUSG00000038286

Gene Name

biphenyl hydrolase like

Synonyms

5730533B08Rik, 2010012D11Rik

MMRRC Submission

039528-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R1475 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34221611-34258055 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 34244507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 208 (D208A)

Ref Sequence

ENSEMBL: ENSMUSP00000046168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040656] [ENSMUST00000222658]

AlphaFold

Q8R164

Predicted Effect

probably benign
Transcript: ENSMUST00000040656
AA Change: D208A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046168
Gene: ENSMUSG00000038286
AA Change: D208A

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000220717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221124

Predicted Effect

probably benign
Transcript: ENSMUST00000222658

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223251

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

96% (46/48)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B08Rik	A	T	8: 122,267,327 (GRCm39)		probably benign	Het
9230112D13Rik	T	A	14: 34,234,012 (GRCm39)	D93V	unknown	Het
Aatk	G	A	11: 119,901,714 (GRCm39)	T894M	probably damaging	Het
Acacb	T	C	5: 114,333,313 (GRCm39)	I479T	possibly damaging	Het
Acap3	T	C	4: 155,987,278 (GRCm39)	I431T	probably damaging	Het
Adgrl1	A	G	8: 84,664,979 (GRCm39)	K1267R	possibly damaging	Het
C2cd5	T	C	6: 143,018,298 (GRCm39)	D308G	possibly damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Cdk11b	G	A	4: 155,718,674 (GRCm39)	R208H	probably damaging	Het
Cfap44	T	C	16: 44,254,175 (GRCm39)		probably benign	Het
Chrna4	T	C	2: 180,671,172 (GRCm39)	S195G	probably benign	Het
Cpsf2	T	C	12: 101,951,495 (GRCm39)	L144S	probably damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dffa	T	A	4: 149,201,935 (GRCm39)	L171Q	probably damaging	Het
Emcn	C	T	3: 137,085,668 (GRCm39)	H89Y	possibly damaging	Het
Espn	G	A	4: 152,218,728 (GRCm39)	P452S	probably damaging	Het
Fam78b	T	A	1: 166,829,346 (GRCm39)	I71N	probably damaging	Het
Fam89b	A	G	19: 5,779,447 (GRCm39)	S37P	probably damaging	Het
Fat4	G	A	3: 38,942,472 (GRCm39)	R455H	probably damaging	Het
Fbxo6	A	G	4: 148,230,567 (GRCm39)	F232L	probably benign	Het
Fcamr	T	A	1: 130,742,221 (GRCm39)		probably null	Het
Fermt3	T	C	19: 6,996,242 (GRCm39)		probably null	Het
Fsip2	A	T	2: 82,817,539 (GRCm39)	D4424V	probably damaging	Het
Gaa	G	A	11: 119,165,142 (GRCm39)		probably null	Het
Glce	T	C	9: 61,968,210 (GRCm39)	T314A	possibly damaging	Het
Hdac5	T	C	11: 102,093,012 (GRCm39)	Q575R	possibly damaging	Het
Il23r	C	A	6: 67,429,280 (GRCm39)		probably null	Het
Kcnj4	T	A	15: 79,368,831 (GRCm39)	E383V	probably damaging	Het
Lrsam1	G	T	2: 32,844,277 (GRCm39)	Q115K	possibly damaging	Het
Lyst	T	A	13: 13,882,797 (GRCm39)		probably null	Het
Myf5	A	G	10: 107,320,515 (GRCm39)	V190A	probably benign	Het
Nmnat2	G	A	1: 152,950,441 (GRCm39)	R42H	probably damaging	Het
Or8b42	T	A	9: 38,342,160 (GRCm39)	V194D	probably benign	Het
Or8k20	A	T	2: 86,105,905 (GRCm39)	*309R	probably null	Het
Osbpl1a	T	A	18: 12,890,737 (GRCm39)	K380M	probably damaging	Het
Pgd	T	C	4: 149,241,232 (GRCm39)	T226A	probably benign	Het
Pitpnm3	T	C	11: 71,965,453 (GRCm39)	T127A	probably damaging	Het
Plekhm2	T	C	4: 141,355,165 (GRCm39)	D954G	possibly damaging	Het
Pramel14	T	C	4: 143,720,882 (GRCm39)	K20E	probably benign	Het
Rasal1	T	A	5: 120,801,047 (GRCm39)	F236I	possibly damaging	Het
Stab1	T	C	14: 30,885,785 (GRCm39)	N63S	probably benign	Het
Syf2	T	A	4: 134,662,745 (GRCm39)	M145K	possibly damaging	Het
Usp34	C	A	11: 23,423,253 (GRCm39)	L3152I	probably damaging	Het
Usp50	T	C	2: 126,611,787 (GRCm39)		probably null	Het
Wdfy4	A	T	14: 32,830,645 (GRCm39)	I929N	probably benign	Het
Zfp874b	A	T	13: 67,622,211 (GRCm39)		probably null	Het

Other mutations in Bphl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R5862:Bphl	UTSW	13	34,247,967 (GRCm39)	missense	possibly damaging	0.87
R6849:Bphl	UTSW	13	34,234,252 (GRCm39)	splice site	probably null
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'- TAAGGCAGAAAGCCCTGCCAAG -3'
(R):5'- ACGATAACCAGCGTCCCTGTTCAC -3'

Sequencing Primer
(F):5'- gaggatgtgagtgagccag -3'
(R):5'- TGTTCACCCGATAACAGTGTG -3'

Posted On

2014-03-28