Mutagenetix > Incidental Mutation

Incidental Mutation 'R1718:Bpifb1'

191184

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

039751-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1718 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

154032738-154062263 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 154055903 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123017

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (69/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	T	13: 77,393,489 (GRCm39)		probably benign	Het
Acot3	T	G	12: 84,100,717 (GRCm39)		probably null	Het
Acox1	A	T	11: 116,065,508 (GRCm39)	C523*	probably null	Het
Adamts19	G	A	18: 59,105,897 (GRCm39)	C764Y	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,250,976 (GRCm39)		probably null	Het
Apob	A	G	12: 8,066,087 (GRCm39)	K4319R	probably benign	Het
AU016765	A	C	17: 64,862,433 (GRCm39)		noncoding transcript	Het
Btn2a2	A	G	13: 23,666,106 (GRCm39)	V242A	probably benign	Het
Camta1	A	G	4: 151,168,481 (GRCm39)	S1281P	probably benign	Het
Ccdc116	T	C	16: 16,959,772 (GRCm39)	K306E	probably benign	Het
Cemip	A	G	7: 83,584,866 (GRCm39)	V1350A	probably benign	Het
Clip2	A	T	5: 134,531,783 (GRCm39)	L674*	probably null	Het
Cyp2d12	T	A	15: 82,442,251 (GRCm39)	D244E	probably benign	Het
Cyp4x1	A	G	4: 114,968,867 (GRCm39)	V379A	possibly damaging	Het
Dnah9	T	A	11: 66,058,905 (GRCm39)	H130L	possibly damaging	Het
Enpp7	A	G	11: 118,881,809 (GRCm39)	Y318C	probably damaging	Het
Fras1	A	T	5: 96,702,748 (GRCm39)		probably null	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm28042	T	A	2: 119,866,872 (GRCm39)	S172T	possibly damaging	Het
Gm7808	T	A	9: 19,839,299 (GRCm39)		probably benign	Het
Gpr61	C	T	3: 108,057,696 (GRCm39)	V322M	possibly damaging	Het
H2-T5	A	G	17: 36,472,676 (GRCm39)		probably benign	Het
Hapln3	A	G	7: 78,773,198 (GRCm39)	V15A	unknown	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Klk1b4	A	G	7: 43,859,096 (GRCm39)	Y38C	probably damaging	Het
Lrrfip1	A	G	1: 91,043,277 (GRCm39)	K561E	probably damaging	Het
Map3k1	A	G	13: 111,891,953 (GRCm39)	C1101R	probably benign	Het
Mcoln2	A	G	3: 145,896,229 (GRCm39)		probably benign	Het
Mfsd2b	G	A	12: 4,919,037 (GRCm39)	T73I	probably damaging	Het
Mfsd4b5	C	T	10: 39,851,199 (GRCm39)	V19I	probably benign	Het
Mgme1	T	A	2: 144,114,238 (GRCm39)	D113E	probably benign	Het
Mki67	A	G	7: 135,297,223 (GRCm39)	S2604P	probably damaging	Het
Mob3c	A	G	4: 115,688,841 (GRCm39)	I125V	probably benign	Het
Mrps9	G	A	1: 42,942,559 (GRCm39)	R339H	probably damaging	Het
Ndst1	T	C	18: 60,840,875 (GRCm39)	D269G	probably damaging	Het
Nedd9	T	C	13: 41,492,402 (GRCm39)	N30S	probably damaging	Het
Notch4	G	A	17: 34,795,737 (GRCm39)		probably benign	Het
Or5ak25	T	C	2: 85,269,149 (GRCm39)	M118V	probably benign	Het
Or5t15	A	T	2: 86,681,531 (GRCm39)	N170K	probably benign	Het
Or8b9	G	A	9: 37,766,749 (GRCm39)	V212I	probably benign	Het
Or8c10	A	G	9: 38,278,890 (GRCm39)	D6G	probably benign	Het
Papss1	C	A	3: 131,324,946 (GRCm39)	R447S	probably damaging	Het
Pla2g4a	C	T	1: 149,747,274 (GRCm39)		probably benign	Het
Rab11fip2	A	G	19: 59,924,081 (GRCm39)	F266L	probably damaging	Het
Ralgapb	T	A	2: 158,285,200 (GRCm39)	Y554*	probably null	Het
Rem2	T	C	14: 54,716,607 (GRCm39)	V240A	probably damaging	Het
Retsat	T	C	6: 72,579,654 (GRCm39)	V143A	probably benign	Het
Rnf141	G	T	7: 110,420,480 (GRCm39)	Q175K	probably damaging	Het
Rtcb	C	A	10: 85,777,881 (GRCm39)	G431V	probably damaging	Het
Slc7a6os	A	G	8: 106,930,971 (GRCm39)	W222R	probably damaging	Het
Smarcc2	T	C	10: 128,304,867 (GRCm39)		probably benign	Het
Smchd1	A	T	17: 71,755,828 (GRCm39)	Y218N	possibly damaging	Het
Sp110	G	A	1: 85,522,106 (GRCm39)	H66Y	probably benign	Het
Speg	G	A	1: 75,394,507 (GRCm39)	E1739K	probably benign	Het
Speg	A	G	1: 75,398,388 (GRCm39)	Q1945R	possibly damaging	Het
Sprtn	T	C	8: 125,625,096 (GRCm39)	V67A	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tnks1bp1	G	T	2: 84,902,082 (GRCm39)	E997D	probably benign	Het
Tti1	A	T	2: 157,850,144 (GRCm39)	V365E	probably benign	Het
Tulp4	A	G	17: 6,272,715 (GRCm39)	I590V	probably benign	Het
Vmn2r61	A	G	7: 41,950,121 (GRCm39)	D847G	probably benign	Het
Zfp184	A	G	13: 22,143,442 (GRCm39)	T383A	possibly damaging	Het
Zik1	T	A	7: 10,226,268 (GRCm39)	E33V	probably damaging	Het
Zik1	C	A	7: 10,226,269 (GRCm39)	E33*	probably null	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
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
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

Posted On

2014-05-14