Mutagenetix > Incidental Mutation

Incidental Mutation 'R6005:Bpi'

479397

Institutional Source

Beutler Lab

Gene Symbol

Bpi

Ensembl Gene

ENSMUSG00000052922

Gene Name

bactericidal permeablility increasing protein

Synonyms

Bpifd1, 9230105K17Rik

MMRRC Submission

044425-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6005 (G1)

Quality Score

189.009

Status

Validated

Chromosome

Chromosomal Location

158100014-158126451 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 158104400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 168 (V168I)

Ref Sequence

ENSEMBL: ENSMUSP00000105126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065039] [ENSMUST00000109499] [ENSMUST00000109500]

AlphaFold

Q67E05

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065039
AA Change: V168I

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000067837
Gene: ENSMUSG00000052922
AA Change: V168I

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
BPI1	36	259	1.72e-70	SMART
BPI2	274	481	7.01e-53	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109499
AA Change: V168I

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105125
Gene: ENSMUSG00000052922
AA Change: V168I

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
BPI1	36	259	1.72e-70	SMART
BPI2	274	478	3.93e-56	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109500
AA Change: V168I

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105126
Gene: ENSMUSG00000052922
AA Change: V168I

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
BPI1	36	259	1.72e-70	SMART
BPI2	274	477	5.43e-59	SMART

Meta Mutation Damage Score

0.3578

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 90.9%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has antimicrobial activity against gram-negative organisms. [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	A	T	15: 85,378,310 (GRCm39)	I111N	unknown	Het
Adgb	C	T	10: 10,271,096 (GRCm39)	R849H	probably damaging	Het
Ahnak	T	C	19: 8,992,525 (GRCm39)	V4603A	possibly damaging	Het
Ank1	A	G	8: 23,622,218 (GRCm39)	D1589G	probably damaging	Het
Ankrd2	A	G	19: 42,028,554 (GRCm39)	D70G	probably damaging	Het
Arid2	T	C	15: 96,268,853 (GRCm39)	S989P	probably benign	Het
Bbs1	A	T	19: 4,953,823 (GRCm39)	Y113*	probably null	Het
Bfsp2	T	G	9: 103,325,749 (GRCm39)	K298T	probably damaging	Het
Cacna2d1	T	C	5: 16,566,819 (GRCm39)	S921P	probably damaging	Het
Clec4d	A	C	6: 123,244,118 (GRCm39)	T76P	probably damaging	Het
Coq8b	C	T	7: 26,956,750 (GRCm39)	Q468*	probably null	Het
Dennd6b	T	C	15: 89,072,371 (GRCm39)	E248G	possibly damaging	Het
Ednra	A	G	8: 78,401,556 (GRCm39)	S245P	possibly damaging	Het
Epb41l4a	C	T	18: 33,961,196 (GRCm39)	C446Y	probably benign	Het
Fam221a	A	G	6: 49,344,756 (GRCm39)		probably benign	Het
Fam229a	T	C	4: 129,385,296 (GRCm39)	S76P	probably benign	Het
Fryl	C	T	5: 73,240,638 (GRCm39)	D1321N	probably damaging	Het
Gata3os	T	C	2: 9,887,638 (GRCm39)		probably benign	Het
Gli2	C	T	1: 118,769,794 (GRCm39)	R586H	probably damaging	Het
Gm94	C	T	18: 43,925,862 (GRCm39)	A16T	possibly damaging	Het
Gorasp2	T	C	2: 70,521,095 (GRCm39)	V355A	probably benign	Het
Grid1	C	A	14: 35,045,369 (GRCm39)	T404N	probably damaging	Het
Gtf2i	C	A	5: 134,284,812 (GRCm39)	E475*	probably null	Het
Gucy1a2	T	C	9: 3,865,518 (GRCm39)		probably null	Het
Hs3st5	T	A	10: 36,708,924 (GRCm39)	I153N	probably damaging	Het
Il11ra1	T	C	4: 41,763,887 (GRCm39)		probably null	Het
Ireb2	G	A	9: 54,816,089 (GRCm39)	G887S	probably damaging	Het
Kdsr	T	C	1: 106,662,311 (GRCm39)	E248G	probably benign	Het
Lemd2	C	G	17: 27,409,759 (GRCm39)	R464P	probably damaging	Het
Lrrfip1	T	C	1: 91,042,333 (GRCm39)	V246A	probably damaging	Het
Macf1	T	A	4: 123,368,068 (GRCm39)	D2231V	possibly damaging	Het
Map2k5	C	T	9: 63,188,301 (GRCm39)	D283N	probably damaging	Het
Mfsd5	A	G	15: 102,189,927 (GRCm39)	D433G	possibly damaging	Het
Mir700	C	A	4: 135,139,618 (GRCm39)		probably null	Het
Mroh9	A	T	1: 162,903,246 (GRCm39)	F52L	probably damaging	Het
Mtrfr	G	T	5: 124,478,837 (GRCm39)	E153*	probably null	Het
Mycbp2	A	C	14: 103,394,159 (GRCm39)	S2691A	probably benign	Het
Myorg	T	A	4: 41,498,895 (GRCm39)	H245L	probably benign	Het
Nktr	T	A	9: 121,577,460 (GRCm39)		probably benign	Het
Obsl1	C	A	1: 75,468,859 (GRCm39)		probably null	Het
Or10ag60	A	T	2: 87,438,424 (GRCm39)	I231F	probably damaging	Het
Or52r1b	A	T	7: 102,690,853 (GRCm39)	I51F	probably damaging	Het
Or5aq7	A	G	2: 86,938,407 (GRCm39)	V108A	probably benign	Het
Or7g35	C	T	9: 19,496,181 (GRCm39)	T116I	probably benign	Het
Or8c11	T	C	9: 38,289,605 (GRCm39)	S137P	probably damaging	Het
Pcdhb22	T	A	18: 37,652,789 (GRCm39)	I162N	possibly damaging	Het
Pde1c	A	T	6: 56,456,187 (GRCm39)		probably null	Het
Pds5b	A	G	5: 150,693,241 (GRCm39)		probably null	Het
Pkd1l1	A	C	11: 8,807,113 (GRCm39)	W1568G	probably damaging	Het
Polr3c	A	T	3: 96,626,784 (GRCm39)	M258K	possibly damaging	Het
Pramel23	T	A	4: 143,425,002 (GRCm39)	H147L	probably benign	Het
Prss12	A	T	3: 123,276,417 (GRCm39)	I349F	probably benign	Het
Ptpn21	A	G	12: 98,644,811 (GRCm39)	*1177Q	probably null	Het
Rgs22	T	A	15: 36,010,713 (GRCm39)	K1125M	probably benign	Het
Rnf182	A	G	13: 43,821,511 (GRCm39)	K21E	probably damaging	Het
Rpl6	G	A	5: 121,343,577 (GRCm39)		probably benign	Het
Samsn1	C	T	16: 75,670,402 (GRCm39)	V234I	probably benign	Het
Scrib	A	G	15: 75,929,600 (GRCm39)	I1089T	probably damaging	Het
Sec31a	T	C	5: 100,511,737 (GRCm39)	T1092A	probably damaging	Het
Sh3bp2	G	T	5: 34,719,809 (GRCm39)	R606L	possibly damaging	Het
Sipa1	A	G	19: 5,706,229 (GRCm39)	V367A	probably damaging	Het
Slc25a44	C	T	3: 88,320,153 (GRCm39)	E269K	probably damaging	Het
Slc44a4	T	A	17: 35,142,430 (GRCm39)	M353K	possibly damaging	Het
Sorcs2	A	G	5: 36,176,728 (GRCm39)	S1142P	probably damaging	Het
Sptbn4	A	G	7: 27,118,024 (GRCm39)	F352L	probably damaging	Het
Synj1	A	T	16: 90,766,174 (GRCm39)	N541K	probably damaging	Het
Tas2r113	G	A	6: 132,870,659 (GRCm39)	R229K	probably benign	Het
Tcaf3	A	T	6: 42,566,905 (GRCm39)	I728K	probably benign	Het
Tcea1	A	G	1: 4,960,996 (GRCm39)	E167G	probably benign	Het
Timeless	G	A	10: 128,080,069 (GRCm39)	R406H	probably damaging	Het
Traf6	C	T	2: 101,527,029 (GRCm39)	R260*	probably null	Het
Traj31	C	T	14: 54,425,388 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,599,907 (GRCm39)	V19089D	probably damaging	Het
Unc80	C	T	1: 66,666,416 (GRCm39)	S1868L	possibly damaging	Het
Wdr38	A	T	2: 38,891,333 (GRCm39)	I287F	possibly damaging	Het
Wnt2	G	A	6: 18,030,322 (GRCm39)		probably benign	Het
Wnt5b	G	A	6: 119,410,615 (GRCm39)	P288L	probably benign	Het
Xkr5	G	T	8: 18,984,521 (GRCm39)	N174K	probably benign	Het
Zbtb6	C	T	2: 37,318,977 (GRCm39)	R317Q	probably damaging	Het
Zcchc7	AGGGG	AGGG	4: 44,931,218 (GRCm39)		probably null	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het

Other mutations in Bpi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Bpi	APN	2	158,116,716 (GRCm39)	missense	probably damaging	1.00
IGL00327:Bpi	APN	2	158,116,764 (GRCm39)	critical splice donor site	probably benign
IGL01614:Bpi	APN	2	158,113,866 (GRCm39)	missense	probably damaging	1.00
IGL02301:Bpi	APN	2	158,116,734 (GRCm39)	missense	probably damaging	1.00
IGL02516:Bpi	APN	2	158,109,651 (GRCm39)	missense	possibly damaging	0.58
IGL02752:Bpi	APN	2	158,104,344 (GRCm39)	missense	probably damaging	0.99
R0077:Bpi	UTSW	2	158,103,254 (GRCm39)	missense	probably damaging	1.00
R0085:Bpi	UTSW	2	158,115,072 (GRCm39)	nonsense	probably null
R0433:Bpi	UTSW	2	158,100,339 (GRCm39)	missense	probably damaging	1.00
R0580:Bpi	UTSW	2	158,100,215 (GRCm39)	start codon destroyed	probably damaging	0.98
R0605:Bpi	UTSW	2	158,103,314 (GRCm39)	missense	probably damaging	1.00
R0924:Bpi	UTSW	2	158,103,346 (GRCm39)	missense	possibly damaging	0.50
R0930:Bpi	UTSW	2	158,103,346 (GRCm39)	missense	possibly damaging	0.50
R1173:Bpi	UTSW	2	158,109,660 (GRCm39)	missense	probably benign	0.04
R1530:Bpi	UTSW	2	158,103,065 (GRCm39)	missense	probably damaging	1.00
R1923:Bpi	UTSW	2	158,103,083 (GRCm39)	missense	probably damaging	1.00
R1955:Bpi	UTSW	2	158,116,635 (GRCm39)	missense	probably damaging	0.98
R2011:Bpi	UTSW	2	158,103,272 (GRCm39)	missense	probably damaging	0.97
R4748:Bpi	UTSW	2	158,113,941 (GRCm39)	missense	possibly damaging	0.93
R6374:Bpi	UTSW	2	158,113,974 (GRCm39)	missense	probably damaging	1.00
R6994:Bpi	UTSW	2	158,100,164 (GRCm39)	start gained	probably benign
R7072:Bpi	UTSW	2	158,113,998 (GRCm39)	missense	probably damaging	0.99
R7707:Bpi	UTSW	2	158,103,093 (GRCm39)	missense	probably benign	0.02
R8825:Bpi	UTSW	2	158,109,670 (GRCm39)	missense	probably benign	0.00
R9180:Bpi	UTSW	2	158,116,608 (GRCm39)	missense	probably benign	0.29
Z1176:Bpi	UTSW	2	158,114,022 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCTGAAGCCCCTGATTCCTG -3'
(R):5'- GACAGTGTCTGCTCTACTTGAGG -3'

Sequencing Primer
(F):5'- CCTGCTAATGGGGGAAGTACC -3'
(R):5'- TTTCTGAGGAAGGGGACT -3'

Posted On

2017-06-26