Mutagenetix > Incidental Mutation

Incidental Mutation 'R8497:Bphl'

658334

Institutional Source

Beutler Lab

Gene Symbol

Bphl

Ensembl Gene

ENSMUSG00000038286

Gene Name

biphenyl hydrolase like

Synonyms

5730533B08Rik, 2010012D11Rik

MMRRC Submission

067939-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R8497 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34221611-34258055 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34221706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 21 (K21E)

Ref Sequence

ENSEMBL: ENSMUSP00000152050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021844] [ENSMUST00000040656] [ENSMUST00000167374] [ENSMUST00000222658] [ENSMUST00000222691]

AlphaFold

Q8R164

Predicted Effect

probably benign
Transcript: ENSMUST00000021844

SMART Domains

Protein: ENSMUSP00000021844
Gene: ENSMUSG00000021408

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	17	286	1.2e-52	PFAM
Pfam:Pkinase	18	286	6.2e-51	PFAM
Pfam:Kinase-like	84	247	7.4e-8	PFAM
Pfam:RHIM	480	538	5.9e-10	PFAM
DEATH	558	654	1.2e-25	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040656
AA Change: K21E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000046168
Gene: ENSMUSG00000038286
AA Change: K21E

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: ENSMUST00000167374

SMART Domains

Protein: ENSMUSP00000129831
Gene: ENSMUSG00000021408

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	17	286	5.2e-54	PFAM
Pfam:Pkinase	18	286	1.1e-53	PFAM
Pfam:RHIM	493	539	5.2e-16	PFAM
DEATH	558	654	1.2e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171137

SMART Domains

Protein: ENSMUSP00000128511
Gene: ENSMUSG00000021408

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	4	116	2.6e-14	PFAM
Pfam:Pkinase	5	109	1.7e-14	PFAM
Pfam:Pkinase	92	227	2.9e-14	PFAM
Pfam:Pkinase_Tyr	94	227	2.9e-21	PFAM
Pfam:RHIM	421	479	2.3e-10	PFAM
DEATH	499	595	1.2e-25	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222658
AA Change: K21E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

Predicted Effect

unknown
Transcript: ENSMUST00000222691
AA Change: K21E

Meta Mutation Damage Score

0.1640

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (51/51)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	T	19: 31,923,250 (GRCm39)	H509Y	probably benign	Het
Afm	A	T	5: 90,699,202 (GRCm39)		probably null	Het
Apc	G	A	18: 34,446,083 (GRCm39)	C975Y	possibly damaging	Het
Ash1l	G	T	3: 88,914,951 (GRCm39)	M1860I	probably benign	Het
Bdkrb1	C	T	12: 105,570,463 (GRCm39)	Q10*	probably null	Het
Cadps2	T	C	6: 23,355,918 (GRCm39)	N837D	probably benign	Het
Cat	C	G	2: 103,287,221 (GRCm39)	A470P	probably damaging	Het
Cdc34	G	T	10: 79,520,845 (GRCm39)	D11Y	probably damaging	Het
Cep290	A	G	10: 100,387,320 (GRCm39)	E1936G	probably damaging	Het
Cnot6	A	T	11: 49,566,191 (GRCm39)	N501K	possibly damaging	Het
Cyth3	A	C	5: 143,678,328 (GRCm39)	D44A	probably benign	Het
Dchs1	C	T	7: 105,408,168 (GRCm39)	G1888D	probably damaging	Het
Ffar1	T	G	7: 30,560,334 (GRCm39)	I188L	probably benign	Het
Fhip1b	G	T	7: 105,030,396 (GRCm39)	D820E	probably damaging	Het
Gpr17	A	G	18: 32,080,173 (GRCm39)	Y297H	probably damaging	Het
H2-M10.5	A	C	17: 37,084,729 (GRCm39)	E151A	probably damaging	Het
Hmcn1	C	T	1: 150,455,990 (GRCm39)	R5310K	probably benign	Het
Hmcn2	T	C	2: 31,313,357 (GRCm39)	L3522P	possibly damaging	Het
Hs2st1	T	G	3: 144,140,452 (GRCm39)	T290P	probably damaging	Het
Il5ra	G	A	6: 106,715,066 (GRCm39)	L231F	probably benign	Het
Itgav	T	A	2: 83,615,805 (GRCm39)	C529S	probably damaging	Het
Itprid1	A	T	6: 55,875,179 (GRCm39)	R376S	probably benign	Het
Lrrcc1	A	G	3: 14,605,044 (GRCm39)	D138G	possibly damaging	Het
Mat1a	C	T	14: 40,843,851 (GRCm39)	R357W	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mtss2	T	C	8: 111,465,222 (GRCm39)	V492A	possibly damaging	Het
Nalcn	A	G	14: 123,752,771 (GRCm39)	V330A	probably damaging	Het
Neu3	A	T	7: 99,472,342 (GRCm39)		probably null	Het
Nfx1	A	G	4: 40,976,968 (GRCm39)	D214G	possibly damaging	Het
Or2a14	T	C	6: 43,130,818 (GRCm39)	L193P	probably damaging	Het
Or2y17	G	A	11: 49,231,721 (GRCm39)	D121N	probably damaging	Het
Or4f14	T	A	2: 111,742,964 (GRCm39)	I104F	possibly damaging	Het
Or5b104	T	C	19: 13,072,707 (GRCm39)	T102A	probably benign	Het
Pcdhb14	A	T	18: 37,582,349 (GRCm39)	H485L	probably benign	Het
Pdss2	A	C	10: 43,289,521 (GRCm39)	K342T	possibly damaging	Het
Ppargc1a	A	G	5: 51,647,570 (GRCm39)	S254P	probably damaging	Het
Prelid1	A	G	13: 55,470,833 (GRCm39)	D87G	probably damaging	Het
Prkg1	C	A	19: 31,279,709 (GRCm39)	C190F	probably damaging	Het
Psmb5	A	G	14: 54,851,837 (GRCm39)	S116P	possibly damaging	Het
Rassf6	A	G	5: 90,779,391 (GRCm39)	V14A	possibly damaging	Het
Ripk1	T	C	13: 34,211,934 (GRCm39)	S415P	probably damaging	Het
Rnft1	A	T	11: 86,386,132 (GRCm39)	K344*	probably null	Het
Sacs	G	A	14: 61,429,702 (GRCm39)	R587Q	probably benign	Het
Skp2	A	T	15: 9,127,971 (GRCm39)		probably null	Het
Spata31d1a	T	C	13: 59,848,988 (GRCm39)	K1047E	possibly damaging	Het
Spopfm2	T	A	3: 94,083,119 (GRCm39)	I231F	possibly damaging	Het
Szt2	G	A	4: 118,245,518 (GRCm39)	T1098I	possibly damaging	Het
Tcf20	A	G	15: 82,740,152 (GRCm39)	M433T	probably benign	Het
Tsen54	T	C	11: 115,713,410 (GRCm39)	F438L	probably damaging	Het
Utp23	C	T	15: 51,745,614 (GRCm39)	T144I	probably damaging	Het
Vmn2r105	T	C	17: 20,455,134 (GRCm39)	M1V	probably null	Het
Wdfy4	C	T	14: 32,688,356 (GRCm39)	V2926M	probably damaging	Het
Zfp407	T	C	18: 84,578,021 (GRCm39)	K1031E	probably 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
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
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'- GACTAGAAGGACACGCTCTG -3'
(R):5'- AGGCATCAAAGTGCTCGCAC -3'

Sequencing Primer
(F):5'- ACTAGAAGGACACGCTCTGTTTTTG -3'
(R):5'- ACACCAGTTCTGCGGGATCTG -3'

Posted On

2021-01-18