Mutagenetix > Incidental Mutation

Incidental Mutation 'R7811:Bpifb1'

628591

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

045866-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7811 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154032738-154062263 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 154048484 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 null
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 null
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (58/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,527,141 (GRCm39)		probably null	Het
Abca3	A	G	17: 24,616,362 (GRCm39)	T935A	probably benign	Het
Anxa7	A	T	14: 20,510,254 (GRCm39)	Y399N	probably benign	Het
Arhgef10l	G	T	4: 140,242,335 (GRCm39)	T1030K	possibly damaging	Het
Ass1	G	A	2: 31,404,753 (GRCm39)	V345I	probably benign	Het
Bms1	T	C	6: 118,380,099 (GRCm39)	D736G	probably damaging	Het
Cbx4	A	C	11: 118,972,398 (GRCm39)	C326G	probably benign	Het
Ccdc188	A	G	16: 18,036,314 (GRCm39)	E94G	probably benign	Het
Cdh5	A	G	8: 104,852,235 (GRCm39)	T117A	possibly damaging	Het
Cdk11b	A	G	4: 155,724,359 (GRCm39)	T326A	unknown	Het
Clec5a	C	T	6: 40,558,867 (GRCm39)	C73Y	probably damaging	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Diaph3	T	C	14: 87,219,060 (GRCm39)	D455G	probably damaging	Het
Eml2	T	A	7: 18,920,047 (GRCm39)	M117K	probably benign	Het
Ern1	A	T	11: 106,325,694 (GRCm39)	V112D	unknown	Het
Eya3	T	C	4: 132,439,272 (GRCm39)	I466T	possibly damaging	Het
Fbxl6	T	C	15: 76,421,485 (GRCm39)		probably null	Het
Ffar1	A	G	7: 30,560,802 (GRCm39)	S32P	possibly damaging	Het
Fgb	T	C	3: 82,957,004 (GRCm39)	D22G	probably benign	Het
Fsip2	T	C	2: 82,828,797 (GRCm39)	Y6865H	possibly damaging	Het
Gbx1	T	C	5: 24,710,035 (GRCm39)	E270G	probably damaging	Het
Golga4	T	C	9: 118,361,643 (GRCm39)	L207P	probably damaging	Het
Hnrnpa1	T	C	15: 103,149,900 (GRCm39)	S54P	possibly damaging	Het
Htr4	A	G	18: 62,545,269 (GRCm39)	E18G	possibly damaging	Het
Ide	A	C	19: 37,307,910 (GRCm39)	L34R		Het
Ip6k3	A	T	17: 27,376,557 (GRCm39)	Y51*	probably null	Het
Keap1	A	G	9: 21,148,956 (GRCm39)	L17P	possibly damaging	Het
Lrrn2	T	C	1: 132,866,939 (GRCm39)	V668A	probably benign	Het
Lypd8	A	T	11: 58,281,064 (GRCm39)	T209S	possibly damaging	Het
Myo10	T	C	15: 25,804,610 (GRCm39)	I1635T	probably damaging	Het
Myo1e	T	A	9: 70,234,544 (GRCm39)	V299E	probably damaging	Het
Nadk	A	T	4: 155,661,332 (GRCm39)		probably benign	Het
Nalcn	A	T	14: 123,536,357 (GRCm39)	W1231R	probably damaging	Het
Odf2l	A	G	3: 144,859,148 (GRCm39)	T602A	probably benign	Het
Or13g1	T	A	7: 85,955,554 (GRCm39)	T256S	probably damaging	Het
Or2r3	T	A	6: 42,448,635 (GRCm39)	E159V	probably damaging	Het
Pde6c	T	C	19: 38,128,507 (GRCm39)	V190A	possibly damaging	Het
Ppp4r3a	C	A	12: 101,019,821 (GRCm39)	R378L	probably damaging	Het
Pus7l	A	C	15: 94,438,707 (GRCm39)	V46G	probably damaging	Het
Satb2	G	A	1: 56,884,880 (GRCm39)	S466L	probably benign	Het
Serpina6	A	G	12: 103,620,395 (GRCm39)	M118T	probably damaging	Het
Slc29a1	T	C	17: 45,897,189 (GRCm39)	R366G	probably damaging	Het
Slc6a1	T	C	6: 114,279,515 (GRCm39)	F98S	probably damaging	Het
Spg7	T	C	8: 123,824,164 (GRCm39)	I738T	possibly damaging	Het
Srcap	T	C	7: 127,141,221 (GRCm39)	V1667A	probably damaging	Het
Stxbp5	T	C	10: 9,684,248 (GRCm39)	N574S	probably benign	Het
Syne2	A	G	12: 76,030,501 (GRCm39)		probably null	Het
Tbc1d10a	T	C	11: 4,136,948 (GRCm39)	S54P	possibly damaging	Het
Trim12c	T	C	7: 103,990,469 (GRCm39)	N336S	unknown	Het
Ubap2	T	C	4: 41,211,710 (GRCm39)	S351G	probably benign	Het
Unc13c	G	T	9: 73,600,553 (GRCm39)	A1397E	possibly damaging	Het
Ush1c	G	A	7: 45,854,710 (GRCm39)	R681*	probably null	Het
Vmn2r57	A	T	7: 41,074,439 (GRCm39)	C541*	probably null	Het
Vmn2r73	T	C	7: 85,524,956 (GRCm39)	D64G	possibly damaging	Het
Vmn2r88	A	T	14: 51,656,160 (GRCm39)	T790S		Het
Zfp568	A	G	7: 29,697,295 (GRCm39)	T72A	possibly damaging	Het
Zfp950	A	T	19: 61,108,353 (GRCm39)	Y243*	probably null	Het
Zmym5	A	G	14: 57,036,434 (GRCm39)	S238P	probably damaging	Het
Zswim5	A	G	4: 116,734,673 (GRCm39)	E6G	unknown	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
R4752:Bpifb1	UTSW	2	154,058,200 (GRCm39)	intron	probably benign
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
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'- TGGCACACAGACTTCAACAG -3'
(R):5'- CTGTCTGCAGGTCACTTACATC -3'

Sequencing Primer
(F):5'- AACAGCACCCTTTCTCACTG -3'
(R):5'- GCAGGTCACTTACATCTACTCCATAC -3'

Posted On

2020-05-12