Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03263:Bpifb1'

414958

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bpifb1

Ensembl Gene

ENSMUSG00000027485

Gene Name

BPI fold containing family B, member 1

Synonyms

LPlunc1, von Ebner minor salivary protein, U46068

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03263

Quality Score

Status

Chromosome

Chromosomal Location

154190818-154220369 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154215306 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 395 (M395V)

Ref Sequence

ENSEMBL: ENSMUSP00000080501 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000028987
AA Change: M395V

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000028987
Gene: ENSMUSG00000027485
AA Change: M395V

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
AA Change: M395V

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000080501
Gene: ENSMUSG00000027485
AA Change: M395V

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

Validation Efficiency

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	A	5: 138,564,237	I81F	probably damaging	Het
Acacb	C	T	5: 114,213,693	H1164Y	probably damaging	Het
Adamts5	A	T	16: 85,869,942	V554E	probably damaging	Het
Asns	G	A	6: 7,689,404	R33C	probably benign	Het
BC051076	T	G	5: 87,964,118		noncoding transcript	Het
Bcas3	C	T	11: 85,822,122		probably benign	Het
Cdcp1	C	A	9: 123,180,087	V509L	probably benign	Het
Cdhr2	A	G	13: 54,718,113	T277A	possibly damaging	Het
Ces1d	C	A	8: 93,169,718		probably null	Het
Clca4a	T	A	3: 144,966,431	E250V	probably damaging	Het
Cplx4	T	C	18: 65,967,488	D79G	probably benign	Het
Dcaf11	A	G	14: 55,565,492	D246G	probably damaging	Het
Dnah2	A	T	11: 69,529,381		probably null	Het
Dock3	A	T	9: 106,930,131		probably benign	Het
Fam170a	T	C	18: 50,280,521		probably benign	Het
Fgfr2	T	A	7: 130,180,419	M423L	probably benign	Het
Gabra2	A	G	5: 70,973,493	F331L	probably damaging	Het
Galnt18	C	T	7: 111,520,114	R400Q	probably damaging	Het
Gm884	A	G	11: 103,613,699	V2481A	possibly damaging	Het
H2-M11	A	T	17: 36,548,913	Q266L	probably damaging	Het
Igf2bp1	A	T	11: 95,966,673	V502D	probably damaging	Het
Ik	A	G	18: 36,748,646	N111S	probably damaging	Het
Intu	T	A	3: 40,672,597	Y269*	probably null	Het
Krt82	T	C	15: 101,541,872	Y463C	probably benign	Het
Lrig1	A	G	6: 94,611,647	M507T	probably benign	Het
Mag	T	G	7: 30,899,528		probably null	Het
Map7	T	A	10: 20,245,322	Y121*	probably null	Het
March6	A	G	15: 31,486,362	I349T	probably benign	Het
Mas1	A	G	17: 12,841,564	V324A	possibly damaging	Het
Nckap1l	T	C	15: 103,464,405	W259R	probably damaging	Het
Nhsl1	T	A	10: 18,498,079	Y164*	probably null	Het
Olfr678	T	A	7: 105,070,002	H178Q	probably damaging	Het
Olfr885	A	T	9: 38,061,713	Y131F	probably damaging	Het
Pcdhb2	A	G	18: 37,296,006	D344G	probably damaging	Het
Pclo	T	C	5: 14,681,810	V3442A	unknown	Het
Polr3c	C	T	3: 96,714,251		probably benign	Het
Ppp2r2d	C	T	7: 138,872,922	R11*	probably null	Het
Ptgfr	T	A	3: 151,835,863	M3L	probably benign	Het
Rfx6	A	G	10: 51,725,807	S741G	probably benign	Het
Rif1	T	C	2: 52,090,261	V490A	probably damaging	Het
Samd7	T	A	3: 30,762,153	H349Q	probably damaging	Het
Sh3pxd2a	T	C	19: 47,314,043	N199S	probably damaging	Het
Spef2	T	A	15: 9,667,219	K794N	possibly damaging	Het
Spta1	C	T	1: 174,213,918	A1316V	probably damaging	Het
Vwa7	A	G	17: 35,021,599	E410G	probably benign	Het
Washc2	T	A	6: 116,238,123		probably benign	Het
Wdr72	A	C	9: 74,157,429	Y581S	probably damaging	Het
Zdhhc17	T	C	10: 110,961,016	D298G	probably damaging	Het

Other mutations in Bpifb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Bpifb1	APN	2	154217167	splice site	probably benign
IGL01516:Bpifb1	APN	2	154218252	missense	probably benign	0.03
IGL02047:Bpifb1	APN	2	154202616	start codon destroyed	probably null	1.00
IGL02143:Bpifb1	APN	2	154209929	missense	probably benign	0.14
IGL03174:Bpifb1	APN	2	154213049	missense	probably damaging	1.00
Ectoplasm	UTSW	2	154211581	nonsense	probably null
R0058:Bpifb1	UTSW	2	154206540	missense	possibly damaging	0.54
R0269:Bpifb1	UTSW	2	154212947	missense	possibly damaging	0.51
R0617:Bpifb1	UTSW	2	154212947	missense	possibly damaging	0.51
R0786:Bpifb1	UTSW	2	154202661	missense	probably benign	0.11
R1718:Bpifb1	UTSW	2	154213983	splice site	probably null
R3605:Bpifb1	UTSW	2	154211565	missense	possibly damaging	0.78
R3607:Bpifb1	UTSW	2	154211565	missense	possibly damaging	0.78
R3689:Bpifb1	UTSW	2	154209899	missense	probably benign	0.42
R3807:Bpifb1	UTSW	2	154214002	missense	probably benign	0.25
R3930:Bpifb1	UTSW	2	154215322	missense	possibly damaging	0.89
R4024:Bpifb1	UTSW	2	154213046	missense	probably damaging	1.00
R4745:Bpifb1	UTSW	2	154211581	nonsense	probably null
R4752:Bpifb1	UTSW	2	154216280	intron	probably benign
R5505:Bpifb1	UTSW	2	154204779	missense	probably benign	0.00
R5724:Bpifb1	UTSW	2	154204792	missense	probably benign
R6281:Bpifb1	UTSW	2	154206465	missense	probably damaging	1.00
R7038:Bpifb1	UTSW	2	154202669	missense	probably damaging	0.99
R7246:Bpifb1	UTSW	2	154207092	missense	probably damaging	1.00
R7540:Bpifb1	UTSW	2	154213111	missense	probably damaging	1.00
R7599:Bpifb1	UTSW	2	154214151	missense	probably damaging	1.00
R7678:Bpifb1	UTSW	2	154202729	missense	possibly damaging	0.74
R7811:Bpifb1	UTSW	2	154206564	splice site	probably null

Posted On

2016-08-02