Mutagenetix > Incidental Mutation

Incidental Mutation 'R0085:Bpi'

19839

Institutional Source

Beutler Lab

Gene Symbol

Bpi

Ensembl Gene

ENSMUSG00000052922

Gene Name

bactericidal permeablility increasing protein

Synonyms

Bpifd1, 9230105K17Rik

MMRRC Submission

038372-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

158100014-158126451 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 158115072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 311 (L311*)

Ref Sequence

ENSEMBL: ENSMUSP00000105126 (fasta)

Gene Model

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

AlphaFold

Q67E05

Predicted Effect

probably null
Transcript: ENSMUST00000065039
AA Change: L311*

SMART Domains

Protein: ENSMUSP00000067837
Gene: ENSMUSG00000052922
AA Change: L311*

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

probably null
Transcript: ENSMUST00000109499
AA Change: L311*

SMART Domains

Protein: ENSMUSP00000105125
Gene: ENSMUSG00000052922
AA Change: L311*

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

probably null
Transcript: ENSMUST00000109500
AA Change: L311*

SMART Domains

Protein: ENSMUSP00000105126
Gene: ENSMUSG00000052922
AA Change: L311*

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

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.4%

Validation Efficiency

95% (71/75)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	G	5: 121,742,357 (GRCm39)	I417T	possibly damaging	Het
Adcy9	T	C	16: 4,106,088 (GRCm39)	T1009A	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Baat	T	C	4: 49,490,425 (GRCm39)		probably benign	Het
Brd2	A	C	17: 34,332,233 (GRCm39)	F294L	probably damaging	Het
Carmil1	T	A	13: 24,209,850 (GRCm39)	E804D	probably benign	Het
Cd209g	A	T	8: 4,184,785 (GRCm39)		probably benign	Het
Cfi	A	G	3: 129,668,635 (GRCm39)	I554V	probably benign	Het
Clvs2	G	C	10: 33,498,542 (GRCm39)	S129R	possibly damaging	Het
Dst	T	C	1: 34,268,268 (GRCm39)	S2897P	probably damaging	Het
Efcab7	T	C	4: 99,761,877 (GRCm39)		probably benign	Het
Fbxo2	T	C	4: 148,249,367 (GRCm39)		probably null	Het
Fgfr2	C	A	7: 129,797,993 (GRCm39)	R400L	probably damaging	Het
Hsd17b14	T	C	7: 45,205,834 (GRCm39)		probably benign	Het
Il23r	T	C	6: 67,463,206 (GRCm39)	N96D	probably damaging	Het
Ints13	T	A	6: 146,476,285 (GRCm39)		probably benign	Het
Khdc4	T	A	3: 88,619,046 (GRCm39)	S583R	probably damaging	Het
Lig1	A	G	7: 13,041,495 (GRCm39)	I776V	possibly damaging	Het
Madd	T	C	2: 90,993,083 (GRCm39)	I997V	probably benign	Het
Mgat4b	C	T	11: 50,121,826 (GRCm39)	H116Y	possibly damaging	Het
Myh11	C	A	16: 14,041,883 (GRCm39)	Q720H	probably damaging	Het
Myo5b	A	C	18: 74,834,751 (GRCm39)	D937A	probably benign	Het
Nox3	T	C	17: 3,685,556 (GRCm39)	N584S	probably benign	Het
Ogfr	A	G	2: 180,232,830 (GRCm39)		probably null	Het
Or11g25	T	A	14: 50,723,791 (GRCm39)	M292K	probably benign	Het
Or13p3	T	C	4: 118,567,078 (GRCm39)	V158A	probably benign	Het
Or8b1b	T	C	9: 38,375,958 (GRCm39)	I207T	probably benign	Het
Osbpl6	G	T	2: 76,423,758 (GRCm39)	V728F	probably benign	Het
Picalm	T	A	7: 89,831,525 (GRCm39)	S453T	probably benign	Het
Piezo1	A	G	8: 123,228,354 (GRCm39)	L310P	probably damaging	Het
Pitrm1	C	T	13: 6,599,604 (GRCm39)		probably benign	Het
Pkd1	T	C	17: 24,805,197 (GRCm39)	F3250L	probably damaging	Het
Plekha4	C	T	7: 45,193,373 (GRCm39)	R376*	probably null	Het
Pnma8b	A	T	7: 16,679,474 (GRCm39)	S153C	unknown	Het
Rp1l1	C	T	14: 64,259,744 (GRCm39)	R129W	probably damaging	Het
Ryr3	A	G	2: 112,690,108 (GRCm39)	V1147A	probably damaging	Het
Sema3d	G	A	5: 12,620,953 (GRCm39)	V520I	probably benign	Het
Sgsm1	A	G	5: 113,427,136 (GRCm39)		probably benign	Het
Slc13a2	A	G	11: 78,297,694 (GRCm39)	V58A	probably damaging	Het
Slc1a4	A	G	11: 20,254,510 (GRCm39)		probably benign	Het
Slc4a10	G	A	2: 62,074,690 (GRCm39)		probably benign	Het
Tab1	G	T	15: 80,040,094 (GRCm39)	A305S	probably benign	Het
Tmem30a	T	A	9: 79,678,576 (GRCm39)	T327S	probably benign	Het
Tpr	A	C	1: 150,293,164 (GRCm39)	E863A	possibly damaging	Het
Upk3bl	A	G	5: 136,088,969 (GRCm39)	N161D	probably benign	Het
Ush1c	T	A	7: 45,874,979 (GRCm39)	I131F	probably benign	Het
Wdfy4	C	A	14: 32,800,200 (GRCm39)	R1975S	possibly damaging	Het
Zbtb18	C	T	1: 177,275,501 (GRCm39)	A287V	probably benign	Het
Zfp712	T	C	13: 67,189,256 (GRCm39)	T424A	probably benign	Het
Zfp791	G	T	8: 85,838,862 (GRCm39)	Y56*	probably null	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
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
R6005:Bpi	UTSW	2	158,104,400 (GRCm39)	missense	possibly damaging	0.69
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'- TACCCAGTATGGAAGCGAGCACAG -3'
(R):5'- CCCCAGCTCAGCAGAGATTTGATG -3'

Sequencing Primer
(F):5'- AGCAGAAAATCTGTGGTTGTCC -3'
(R):5'- GGCCTTATCCTCAGGGCATTG -3'

Posted On

2013-04-11