Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02966:Bphl'

365603

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bphl

Ensembl Gene

ENSMUSG00000038286

Gene Name

biphenyl hydrolase like

Synonyms

5730533B08Rik, 2010012D11Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02966

Quality Score

Status

Chromosome

Chromosomal Location

34221611-34258055 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34247980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 251 (H251L)

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: H251L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046168
Gene: ENSMUSG00000038286
AA Change: H251L

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595M18Rik	A	T	X: 80,463,317 (GRCm39)	Y797N	possibly damaging	Het
Actbl2	G	A	13: 111,392,106 (GRCm39)	G147E	probably damaging	Het
Adam18	A	T	8: 25,101,165 (GRCm39)		probably benign	Het
Ahcyl2	G	A	6: 29,880,556 (GRCm39)	V175I	probably benign	Het
Alox12	T	A	11: 70,140,911 (GRCm39)	T375S	probably damaging	Het
Batf2	C	A	19: 6,221,819 (GRCm39)	Q210K	probably damaging	Het
Bicd1	T	C	6: 149,385,494 (GRCm39)	S76P	probably damaging	Het
C130074G19Rik	C	A	1: 184,614,943 (GRCm39)	E82D	probably damaging	Het
Calu	A	T	6: 29,356,584 (GRCm39)	K39*	probably null	Het
Capns1	T	C	7: 29,891,618 (GRCm39)	D142G	probably damaging	Het
Ccr8	T	C	9: 119,923,206 (GRCm39)	V107A	probably damaging	Het
Cep170b	G	A	12: 112,702,878 (GRCm39)	G447D	possibly damaging	Het
Chat	C	T	14: 32,170,903 (GRCm39)	V199M	probably damaging	Het
Cntnap1	G	T	11: 101,075,575 (GRCm39)	V918L	probably damaging	Het
Cyp27a1	A	G	1: 74,771,249 (GRCm39)	T145A	probably benign	Het
Dgkq	T	A	5: 108,804,287 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,369,948 (GRCm39)	I4458V	probably benign	Het
Enpp1	T	A	10: 24,536,172 (GRCm39)	E409D	probably damaging	Het
Fam78b	G	T	1: 166,906,457 (GRCm39)	L205F	probably damaging	Het
Foxr2	C	A	X: 151,913,677 (GRCm39)	R183S	probably damaging	Het
Ganc	T	C	2: 120,264,129 (GRCm39)	S361P	probably damaging	Het
Gfra4	C	A	2: 130,884,560 (GRCm39)	A15S	possibly damaging	Het
Gm8011	A	T	14: 42,287,957 (GRCm39)	D145V	unknown	Het
Gnb4	A	G	3: 32,639,372 (GRCm39)	V307A	probably benign	Het
Hdac4	A	T	1: 91,982,667 (GRCm39)	V17E	possibly damaging	Het
Herc6	G	A	6: 57,560,318 (GRCm39)		probably null	Het
Hivep3	A	G	4: 119,989,383 (GRCm39)	T1945A	probably benign	Het
Ica1l	A	T	1: 60,049,298 (GRCm39)	N218K	probably damaging	Het
Kmt2b	A	T	7: 30,274,887 (GRCm39)	L1939Q	probably benign	Het
Lrrc40	G	A	3: 157,747,302 (GRCm39)		probably benign	Het
Marchf8	C	T	6: 116,380,499 (GRCm39)	R117C	probably damaging	Het
Megf6	T	C	4: 154,338,234 (GRCm39)	S327P	probably damaging	Het
Mocos	T	G	18: 24,809,668 (GRCm39)	C424G	probably damaging	Het
Mrpl50	A	G	4: 49,521,014 (GRCm39)	W14R	probably benign	Het
Mysm1	A	T	4: 94,863,523 (GRCm39)	D23E	probably benign	Het
Naa35	T	A	13: 59,734,085 (GRCm39)	D34E	probably benign	Het
Nid1	A	G	13: 13,656,806 (GRCm39)	I646V	probably benign	Het
Nupr1	T	C	7: 126,224,073 (GRCm39)		probably benign	Het
Or2aj6	G	T	16: 19,443,051 (GRCm39)	H266Q	probably damaging	Het
Or5b24	A	T	19: 12,912,164 (GRCm39)	I21F	probably benign	Het
Or8b12b	T	G	9: 37,684,882 (GRCm39)	L309R	probably benign	Het
Pcbp2	A	C	15: 102,392,684 (GRCm39)		probably benign	Het
Pde8b	T	C	13: 95,232,156 (GRCm39)	Q158R	probably damaging	Het
Pdzd8	T	C	19: 59,289,291 (GRCm39)	Y703C	probably damaging	Het
Plxnb3	T	C	X: 72,808,889 (GRCm39)	S885P	probably benign	Het
Poc1b	T	A	10: 98,980,176 (GRCm39)	C136S	probably damaging	Het
Pole2	T	C	12: 69,256,649 (GRCm39)	D292G	probably damaging	Het
Prpf39	T	C	12: 65,089,553 (GRCm39)	V97A	probably benign	Het
Rbbp8	T	A	18: 11,838,869 (GRCm39)	H183Q	possibly damaging	Het
Scn2a	C	T	2: 65,532,188 (GRCm39)	T600M	possibly damaging	Het
Spata32	T	C	11: 103,099,629 (GRCm39)	Q292R	possibly damaging	Het
Sugp1	T	C	8: 70,523,758 (GRCm39)		probably benign	Het
Sult3a1	A	C	10: 33,753,269 (GRCm39)		probably benign	Het
Tpm3-rs7	C	T	14: 113,552,810 (GRCm39)	Q235*	probably null	Het
Trbv2	A	T	6: 41,024,685 (GRCm39)	T34S	possibly damaging	Het
Tssk6	A	G	8: 70,355,535 (GRCm39)	Y193C	probably benign	Het
Ttn	T	C	2: 76,538,802 (GRCm39)	K34676R	possibly damaging	Het
Ugt3a1	T	C	15: 9,370,154 (GRCm39)	Y433H	probably damaging	Het
Wdhd1	T	C	14: 47,479,101 (GRCm39)	K1072E	possibly damaging	Het

Other mutations in Bphl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-12-18