Mutagenetix > Incidental Mutation

Incidental Mutation 'R7528:Bphl'

583142

Institutional Source

Beutler Lab

Gene Symbol

Bphl

Ensembl Gene

ENSMUSG00000038286

Gene Name

biphenyl hydrolase like

Synonyms

5730533B08Rik, 2010012D11Rik

MMRRC Submission

045600-MU

Accession Numbers

Essential gene?

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

Stock #

R7528 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34221611-34258055 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34244473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 197 (Y197N)

Ref Sequence

ENSEMBL: ENSMUSP00000046168 (fasta)

Gene Model

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

AlphaFold

Q8R164

Predicted Effect

probably damaging
Transcript: ENSMUST00000040656
AA Change: Y197N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046168
Gene: ENSMUSG00000038286
AA Change: Y197N

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

probably benign
Transcript: ENSMUST00000222658

Meta Mutation Damage Score

0.8792

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,767,317 (GRCm39)	E920G	probably damaging	Het
Acss2	A	C	2: 155,399,066 (GRCm39)	N443H	probably damaging	Het
Adam3	C	A	8: 25,167,279 (GRCm39)	A71S	unknown	Het
Agpat3	A	G	10: 78,123,746 (GRCm39)	L38P	probably damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Amtn	C	A	5: 88,526,711 (GRCm39)		probably null	Het
App	T	G	16: 84,775,146 (GRCm39)	Y497S	possibly damaging	Het
Btrc	T	A	19: 45,491,525 (GRCm39)	M160K	possibly damaging	Het
Ccdc181	A	C	1: 164,107,527 (GRCm39)	N70T	probably benign	Het
Cd55b	T	C	1: 130,347,473 (GRCm39)	N113D	possibly damaging	Het
Ctrb1	T	A	8: 112,413,783 (GRCm39)	I194F	probably benign	Het
Dnah2	T	C	11: 69,391,622 (GRCm39)	H691R	probably damaging	Het
Dnajc13	A	G	9: 104,056,164 (GRCm39)	V1579A	possibly damaging	Het
Dst	T	A	1: 34,333,603 (GRCm39)	F5030I	probably damaging	Het
Eppk1	G	A	15: 76,004,308 (GRCm39)		probably benign	Het
Fbxw4	T	C	19: 45,648,449 (GRCm39)	E7G	unknown	Het
Fos	T	A	12: 85,522,432 (GRCm39)	C154S	probably damaging	Het
Foxh1	A	G	15: 76,553,511 (GRCm39)	V97A	probably benign	Het
Gmeb1	G	A	4: 131,959,361 (GRCm39)	T231I	possibly damaging	Het
Golga3	T	A	5: 110,360,098 (GRCm39)	V1112E	probably damaging	Het
Gprin3	T	C	6: 59,331,017 (GRCm39)	D430G	possibly damaging	Het
Hpse2	T	C	19: 42,801,463 (GRCm39)	D441G	probably damaging	Het
Hydin	G	A	8: 111,107,204 (GRCm39)	W460*	probably null	Het
Ifi204	T	C	1: 173,579,406 (GRCm39)	I480V	probably benign	Het
Impg2	T	C	16: 56,080,743 (GRCm39)	V849A	possibly damaging	Het
Kars1	T	C	8: 112,737,866 (GRCm39)	D12G	probably benign	Het
Klhdc7a	A	T	4: 139,694,828 (GRCm39)	Y40N	probably damaging	Het
Krtap5-3	T	C	7: 141,755,219 (GRCm39)	C19R	unknown	Het
Macf1	G	A	4: 123,325,852 (GRCm39)	A5217V	possibly damaging	Het
Mlc1	A	T	15: 88,858,710 (GRCm39)	I146N	possibly damaging	Het
Myo3a	A	T	2: 22,270,925 (GRCm39)	R129*	probably null	Het
Nsun4	G	T	4: 115,891,391 (GRCm39)	Y329*	probably null	Het
Or4k1	A	G	14: 50,377,277 (GRCm39)	V273A	possibly damaging	Het
Or56a3b	T	C	7: 104,771,071 (GRCm39)	Y136H	probably damaging	Het
Pard3	G	A	8: 128,329,646 (GRCm39)	R1214H	probably damaging	Het
Phf20	T	A	2: 156,144,928 (GRCm39)	Y845*	probably null	Het
Pik3c2a	A	G	7: 115,993,474 (GRCm39)	I431T	probably damaging	Het
Plxna2	A	G	1: 194,494,464 (GRCm39)	S1894G	probably damaging	Het
Ppp1r7	C	T	1: 93,282,123 (GRCm39)	Q225*	probably null	Het
Ppp4r1	C	A	17: 66,120,493 (GRCm39)	T209K	probably damaging	Het
Prc1	T	C	7: 79,950,183 (GRCm39)		probably null	Het
Prex2	T	G	1: 11,274,316 (GRCm39)	D1329E	probably damaging	Het
Ptch1	C	T	13: 63,659,528 (GRCm39)	R1375H	probably benign	Het
Rab24	A	T	13: 55,468,921 (GRCm39)	C87S	probably damaging	Het
Rnf43	A	T	11: 87,622,954 (GRCm39)	Y558F	probably benign	Het
Serpinb6e	T	C	13: 34,016,474 (GRCm39)	I420V	possibly damaging	Het
Slain2	C	A	5: 73,072,143 (GRCm39)	S59*	probably null	Het
Slfn3	A	G	11: 83,105,731 (GRCm39)	D576G	probably benign	Het
Sptbn4	A	G	7: 27,141,960 (GRCm39)	M11T	probably benign	Het
Tdh	T	C	14: 63,731,460 (GRCm39)	D238G	probably damaging	Het
Top2b	T	A	14: 16,395,427 (GRCm38)	Y337*	probably null	Het
Trav15-2-dv6-2	A	C	14: 53,887,308 (GRCm39)	Y76S	probably benign	Het
Vmn1r172	G	T	7: 23,359,189 (GRCm39)	G25C	probably damaging	Het
Vmn2r60	AG	A	7: 41,845,158 (GRCm39)		probably null	Het
Vps13d	T	C	4: 144,818,492 (GRCm39)	E3125G		Het
Xkr6	G	T	14: 64,056,610 (GRCm39)	V430F	probably benign	Het
Zfp142	T	C	1: 74,610,061 (GRCm39)	T1245A	probably benign	Het
Zfp960	C	T	17: 17,307,825 (GRCm39)	H180Y	possibly damaging	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
R1475:Bphl	UTSW	13	34,244,507 (GRCm39)	missense	probably benign
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
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'- CGGTAAGTGCTAAGCAGAGC -3'
(R):5'- TTCACCCGATAACAGTGTGG -3'

Sequencing Primer
(F):5'- CTGTCTGACATCGGAGCAGAGAC -3'
(R):5'- CCCGATAACAGTGTGGGGATAATG -3'

Posted On

2019-10-17