Mutagenetix > Incidental Mutation

Incidental Mutation 'R4752:Bpifb1'

357658

Institutional Source

Beutler Lab

Gene Symbol

Bpifb1

Ensembl Gene

ENSMUSG00000027485

Gene Name

BPI fold containing family B, member 1

Synonyms

U46068, LPlunc1, von Ebner minor salivary protein

MMRRC Submission

042032-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4752 (G1)

Quality Score

123

Status

Validated

Chromosome

Chromosomal Location

154032738-154062263 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 154058200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000080501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028987] [ENSMUST00000081816]

AlphaFold

Q61114

Predicted Effect

probably benign
Transcript: ENSMUST00000028987

SMART Domains

Protein: ENSMUSP00000028987
Gene: ENSMUSG00000027485

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
BPI1	36	256	3.3e-40	SMART
Pfam:LBP_BPI_CETP_C	331	470	1.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000081816

SMART Domains

Protein: ENSMUSP00000080501
Gene: ENSMUSG00000027485

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
BPI1	36	256	3.3e-40	SMART
Pfam:LBP_BPI_CETP_C	331	470	1.6e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123017

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit strain background sensitive transmission ratio distortion and increased basal MUC5B production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,775,751 (GRCm39)	Q1647K	possibly damaging	Het
Abcf3	A	G	16: 20,369,326 (GRCm39)	E236G	probably damaging	Het
Adamts17	A	G	7: 66,654,218 (GRCm39)	T483A	probably damaging	Het
Ankrd26	G	T	6: 118,517,426 (GRCm39)	P465Q	probably null	Het
Babam2	C	T	5: 31,859,391 (GRCm39)		probably benign	Het
Ccnb1ip1	T	A	14: 51,031,122 (GRCm39)	T64S	possibly damaging	Het
Cdhr3	A	G	12: 33,136,102 (GRCm39)	V46A	probably damaging	Het
Cep170	A	T	1: 176,584,254 (GRCm39)	D708E	probably benign	Het
Cpsf6	A	T	10: 117,197,273 (GRCm39)		probably benign	Het
Cryzl2	C	T	1: 157,286,219 (GRCm39)		probably null	Het
Dgka	A	T	10: 128,572,528 (GRCm39)	F42I	probably benign	Het
Dip2a	A	T	10: 76,112,491 (GRCm39)	V1059E	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dock4	T	A	12: 40,496,364 (GRCm39)	I3K	probably benign	Het
Dsc2	A	T	18: 20,171,279 (GRCm39)	N573K	probably damaging	Het
Eif2b4	G	A	5: 31,348,575 (GRCm39)	R213*	probably null	Het
Eif3b	A	G	5: 140,426,856 (GRCm39)	D704G	probably benign	Het
Epn2	T	C	11: 61,437,197 (GRCm39)	E125G	probably damaging	Het
F830016B08Rik	A	G	18: 60,434,153 (GRCm39)	N412S	probably benign	Het
Fbln2	A	G	6: 91,233,225 (GRCm39)	M570V	probably benign	Het
Gm16686	A	T	4: 88,673,725 (GRCm39)		probably benign	Het
Hook2	C	T	8: 85,729,349 (GRCm39)	Q632*	probably null	Het
Ipcef1	A	T	10: 6,929,573 (GRCm39)	W56R	probably damaging	Het
Krt78	T	C	15: 101,856,637 (GRCm39)	I418M	probably benign	Het
Limk1	G	A	5: 134,699,295 (GRCm39)	T154I	probably damaging	Het
Lyl1	A	T	8: 85,430,910 (GRCm39)	T271S	probably benign	Het
Megf6	A	G	4: 154,336,895 (GRCm39)	I333V	probably damaging	Het
Meioc	A	G	11: 102,565,259 (GRCm39)	T236A	probably benign	Het
Nbas	A	G	12: 13,532,538 (GRCm39)	T1749A	possibly damaging	Het
Nfib	T	A	4: 82,215,016 (GRCm39)	Q529L	probably damaging	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nisch	A	T	14: 30,914,545 (GRCm39)	F42L	probably damaging	Het
Nomo1	T	A	7: 45,706,626 (GRCm39)	Y547N	probably damaging	Het
Or10g3	C	T	14: 52,609,764 (GRCm39)	V249I	probably damaging	Het
Or13a24	T	C	7: 140,154,515 (GRCm39)	S150P	possibly damaging	Het
Or5l14	A	G	2: 87,792,693 (GRCm39)	L181P	probably damaging	Het
Or8g51	T	C	9: 38,609,266 (GRCm39)	Y136C	probably damaging	Het
Pcdh18	T	A	3: 49,709,563 (GRCm39)	N117I	probably damaging	Het
Prkn	T	C	17: 12,223,010 (GRCm39)	S387P	probably benign	Het
Prl3c1	A	T	13: 27,387,508 (GRCm39)	K164N	probably benign	Het
Prr23a3	T	A	9: 98,747,700 (GRCm39)	L218Q	probably damaging	Het
Prss43	A	G	9: 110,656,836 (GRCm39)	H114R	possibly damaging	Het
Ptcd3	A	T	6: 71,878,296 (GRCm39)	M142K	probably damaging	Het
Shisa7	G	A	7: 4,837,249 (GRCm39)	T89I	possibly damaging	Het
Slco1a1	C	T	6: 141,892,340 (GRCm39)	A9T	possibly damaging	Het
Srcap	C	T	7: 127,158,172 (GRCm39)		probably benign	Het
Tdg-ps	G	A	15: 82,400,572 (GRCm39)		noncoding transcript	Het
Tgm4	A	G	9: 122,880,451 (GRCm39)	D284G	probably damaging	Het
Tmc1	T	A	19: 20,804,013 (GRCm39)	I355F	probably benign	Het
Tmem121b	A	T	6: 120,469,995 (GRCm39)	F241I	possibly damaging	Het
Tmem200c	T	A	17: 69,149,235 (GRCm39)	V606E	probably benign	Het
Ttc39c	A	G	18: 12,861,782 (GRCm39)	K370R	probably benign	Het
Vmn2r87	G	A	10: 130,314,336 (GRCm39)	Q417*	probably null	Het
Vps45	T	C	3: 95,955,699 (GRCm39)	Y97C	possibly damaging	Het
Zfp407	A	G	18: 84,581,039 (GRCm39)	S25P	probably benign	Het
Zfp566	A	G	7: 29,777,306 (GRCm39)	S292P	probably damaging	Het

Other mutations in Bpifb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Bpifb1	APN	2	154,059,087 (GRCm39)	splice site	probably benign
IGL01516:Bpifb1	APN	2	154,060,172 (GRCm39)	missense	probably benign	0.03
IGL02047:Bpifb1	APN	2	154,044,536 (GRCm39)	start codon destroyed	probably null	1.00
IGL02143:Bpifb1	APN	2	154,051,849 (GRCm39)	missense	probably benign	0.14
IGL03174:Bpifb1	APN	2	154,054,969 (GRCm39)	missense	probably damaging	1.00
IGL03263:Bpifb1	APN	2	154,057,226 (GRCm39)	missense	probably benign	0.03
Ectoplasm	UTSW	2	154,053,501 (GRCm39)	nonsense	probably null
R0058:Bpifb1	UTSW	2	154,048,460 (GRCm39)	missense	possibly damaging	0.54
R0269:Bpifb1	UTSW	2	154,054,867 (GRCm39)	missense	possibly damaging	0.51
R0617:Bpifb1	UTSW	2	154,054,867 (GRCm39)	missense	possibly damaging	0.51
R0786:Bpifb1	UTSW	2	154,044,581 (GRCm39)	missense	probably benign	0.11
R1718:Bpifb1	UTSW	2	154,055,903 (GRCm39)	splice site	probably null
R3605:Bpifb1	UTSW	2	154,053,485 (GRCm39)	missense	possibly damaging	0.78
R3607:Bpifb1	UTSW	2	154,053,485 (GRCm39)	missense	possibly damaging	0.78
R3689:Bpifb1	UTSW	2	154,051,819 (GRCm39)	missense	probably benign	0.42
R3807:Bpifb1	UTSW	2	154,055,922 (GRCm39)	missense	probably benign	0.25
R3930:Bpifb1	UTSW	2	154,057,242 (GRCm39)	missense	possibly damaging	0.89
R4024:Bpifb1	UTSW	2	154,054,966 (GRCm39)	missense	probably damaging	1.00
R4745:Bpifb1	UTSW	2	154,053,501 (GRCm39)	nonsense	probably null
R5505:Bpifb1	UTSW	2	154,046,699 (GRCm39)	missense	probably benign	0.00
R5724:Bpifb1	UTSW	2	154,046,712 (GRCm39)	missense	probably benign
R6281:Bpifb1	UTSW	2	154,048,385 (GRCm39)	missense	probably damaging	1.00
R7038:Bpifb1	UTSW	2	154,044,589 (GRCm39)	missense	probably damaging	0.99
R7246:Bpifb1	UTSW	2	154,049,012 (GRCm39)	missense	probably damaging	1.00
R7540:Bpifb1	UTSW	2	154,055,031 (GRCm39)	missense	probably damaging	1.00
R7599:Bpifb1	UTSW	2	154,056,071 (GRCm39)	missense	probably damaging	1.00
R7678:Bpifb1	UTSW	2	154,044,649 (GRCm39)	missense	possibly damaging	0.74
R7811:Bpifb1	UTSW	2	154,048,484 (GRCm39)	splice site	probably null
R9031:Bpifb1	UTSW	2	154,051,848 (GRCm39)	missense	probably benign	0.00
R9120:Bpifb1	UTSW	2	154,046,692 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGAGCTAACAAGTGCACCAAC -3'
(R):5'- TGGTGTTCTCAGCTATATCTGC -3'

Sequencing Primer
(F):5'- TGTCCAACCCCTTTAGAATGTGAAC -3'
(R):5'- CTGCATACAGTAGGTGCTCATACG -3'

Posted On

2015-11-11