Mutagenetix > Incidental Mutation

Incidental Mutation 'R4163:Bpifa3'

321595

Institutional Source

Beutler Lab

Gene Symbol

Bpifa3

Ensembl Gene

ENSMUSG00000027482

Gene Name

BPI fold containing family A, member 3

Synonyms

1700058C13Rik

MMRRC Submission

041006-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R4163 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153972256-153980276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153977516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 118 (N118S)

Ref Sequence

ENSEMBL: ENSMUSP00000105368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028984] [ENSMUST00000109746] [ENSMUST00000125753]

AlphaFold

Q9D9J8

Predicted Effect

probably damaging
Transcript: ENSMUST00000028984
AA Change: N118S

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028984
Gene: ENSMUSG00000027482
AA Change: N118S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:LBP_BPI_CETP	47	219	1.2e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109746
AA Change: N118S

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105368
Gene: ENSMUSG00000027482
AA Change: N118S

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:LBP_BPI_CETP	47	219	1e-34	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125753
AA Change: N18S

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135866
Gene: ENSMUSG00000027482
AA Change: N18S

Domain	Start	End	E-Value	Type
Pfam:LBP_BPI_CETP	1	95	4.1e-17	PFAM

Meta Mutation Damage Score

0.5751

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555F03Rik	G	A	8: 49,948,531 (GRCm39)		noncoding transcript	Het
Abca8a	C	T	11: 109,941,808 (GRCm39)	D1154N	probably benign	Het
Adgrf4	A	G	17: 42,978,477 (GRCm39)	F289L	probably benign	Het
Alkbh2	A	G	5: 114,265,613 (GRCm39)	L63S	probably damaging	Het
Atp13a4	A	T	16: 29,360,068 (GRCm39)	N19K	possibly damaging	Het
Birc6	T	A	17: 74,933,975 (GRCm39)	Y2544N	probably damaging	Het
Bnip5	T	C	17: 29,118,503 (GRCm39)	Y643C	probably benign	Het
Chst10	T	A	1: 38,910,904 (GRCm39)	M87L	probably benign	Het
Cnot9	C	T	1: 74,568,006 (GRCm39)	P298L	probably damaging	Het
Cops5	T	C	1: 10,100,912 (GRCm39)	Y228C	probably damaging	Het
Dcaf8	T	G	1: 172,020,137 (GRCm39)	L492R	probably damaging	Het
Dis3l2	A	G	1: 86,748,959 (GRCm39)	S128G	probably benign	Het
Dock1	A	G	7: 134,346,051 (GRCm39)	R198G	possibly damaging	Het
Elovl7	T	A	13: 108,403,904 (GRCm39)	M82K	possibly damaging	Het
Entrep1	G	A	19: 23,952,993 (GRCm39)	A439V	probably damaging	Het
Entrep1	C	T	19: 23,953,002 (GRCm39)	S436N	probably damaging	Het
Fcgr2b	T	C	1: 170,791,016 (GRCm39)	D259G	possibly damaging	Het
Flnb	A	T	14: 7,915,374 (GRCm38)	I1502F	possibly damaging	Het
Frk	C	T	10: 34,467,868 (GRCm39)	P294L	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm128	C	A	3: 95,147,802 (GRCm39)	R164L	probably benign	Het
Gm2223	C	T	X: 32,943,247 (GRCm39)		noncoding transcript	Het
Hexd	C	A	11: 121,111,975 (GRCm39)	A423E	probably benign	Het
Itgax	G	T	7: 127,743,872 (GRCm39)	V878F	probably benign	Het
Kank2	A	T	9: 21,706,864 (GRCm39)	D51E	probably damaging	Het
Kcna4	G	C	2: 107,126,151 (GRCm39)	W295S	probably damaging	Het
Mfsd12	A	G	10: 81,196,931 (GRCm39)		probably null	Het
Mis12	A	G	11: 70,916,482 (GRCm39)	T172A	probably benign	Het
Myo10	T	A	15: 25,726,501 (GRCm39)		probably null	Het
Myo18a	G	T	11: 77,720,534 (GRCm39)	R1103L	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Ntrk2	T	C	13: 59,008,054 (GRCm39)	V272A	probably damaging	Het
Or2ag17	A	T	7: 106,389,486 (GRCm39)	C241S	probably damaging	Het
Or5p64	A	T	7: 107,855,039 (GRCm39)	I102N	probably benign	Het
Or7e165	A	T	9: 19,695,086 (GRCm39)	Y219F	possibly damaging	Het
Pcdh20	C	T	14: 88,705,615 (GRCm39)	D562N	probably damaging	Het
Prep	T	C	10: 44,943,436 (GRCm39)	F4L	probably benign	Het
Prep	G	T	10: 44,943,458 (GRCm39)	R11L	possibly damaging	Het
Ptgs1	C	T	2: 36,141,346 (GRCm39)	R598C	possibly damaging	Het
Rasgrp1	T	C	2: 117,113,135 (GRCm39)	D759G	probably benign	Het
Setd5	T	C	6: 113,096,545 (GRCm39)	S584P	probably benign	Het
Shank3	A	G	15: 89,433,797 (GRCm39)	D1514G	probably damaging	Het
Shox2	T	C	3: 66,881,104 (GRCm39)		probably benign	Het
Slc44a5	A	T	3: 153,967,010 (GRCm39)	R565S	possibly damaging	Het
Slc7a5	A	G	8: 122,615,139 (GRCm39)	L236S	probably benign	Het
Slfn3	A	T	11: 83,103,596 (GRCm39)	I156F	probably damaging	Het
Spout1	C	T	2: 30,067,589 (GRCm39)		probably benign	Het
Trim72	T	C	7: 127,607,080 (GRCm39)	V203A	probably benign	Het
Vrk2	T	A	11: 26,497,915 (GRCm39)	I90L	probably benign	Het
Zc3h12c	A	T	9: 52,026,999 (GRCm39)	Y788N	probably damaging	Het
Zfp831	A	G	2: 174,485,822 (GRCm39)	T166A	possibly damaging	Het

Other mutations in Bpifa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01522:Bpifa3	APN	2	153,979,502 (GRCm39)	missense	probably damaging	1.00
R0023:Bpifa3	UTSW	2	153,980,070 (GRCm39)	missense	probably damaging	0.97
R1067:Bpifa3	UTSW	2	153,979,529 (GRCm39)	missense	probably damaging	1.00
R4614:Bpifa3	UTSW	2	153,978,200 (GRCm39)	missense	probably damaging	0.99
R5124:Bpifa3	UTSW	2	153,980,057 (GRCm39)	nonsense	probably null
R5704:Bpifa3	UTSW	2	153,979,562 (GRCm39)	critical splice donor site	probably null
R5706:Bpifa3	UTSW	2	153,977,498 (GRCm39)	missense	probably damaging	0.98
R5975:Bpifa3	UTSW	2	153,978,241 (GRCm39)	missense	probably damaging	0.96
R6116:Bpifa3	UTSW	2	153,975,633 (GRCm39)	missense	possibly damaging	0.90
R6858:Bpifa3	UTSW	2	153,979,514 (GRCm39)	missense	probably benign	0.12
R8503:Bpifa3	UTSW	2	153,972,550 (GRCm39)	missense	probably damaging	1.00
R9088:Bpifa3	UTSW	2	153,975,685 (GRCm39)	missense	possibly damaging	0.64
R9325:Bpifa3	UTSW	2	153,975,600 (GRCm39)	missense	probably damaging	1.00
Z1176:Bpifa3	UTSW	2	153,972,391 (GRCm39)	start gained	probably benign
Z1177:Bpifa3	UTSW	2	153,978,212 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGTGGGGAAGGCTTCAACAG -3'
(R):5'- TCCAGGTCATGATTGGAGTTCAG -3'

Sequencing Primer
(F):5'- TGCCCAGACTGTCAGAACATTC -3'
(R):5'- CAGGTTGGGGTCATGAAAGGTC -3'

Posted On

2015-06-12