Mutagenetix > Incidental Mutation

Incidental Mutation 'R1067:Bpifa3'

86040

Institutional Source

Beutler Lab

Gene Symbol

Bpifa3

Ensembl Gene

ENSMUSG00000027482

Gene Name

BPI fold containing family A, member 3

Synonyms

1700058C13Rik

MMRRC Submission

039153-MU

Accession Numbers

Essential gene?

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

Stock #

R1067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153972256-153980276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 153979529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 218 (Q218L)

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: Q218L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028984
Gene: ENSMUSG00000027482
AA Change: Q218L

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: Q218L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105368
Gene: ENSMUSG00000027482
AA Change: Q218L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000125753

SMART Domains

Protein: ENSMUSP00000135866
Gene: ENSMUSG00000027482

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

Meta Mutation Damage Score

0.4310

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 94.7%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	G	18: 61,957,018 (GRCm39)		probably benign	Het
Adam24	T	A	8: 41,133,793 (GRCm39)	C420*	probably null	Het
Atp12a	G	A	14: 56,610,893 (GRCm39)	G346S	probably damaging	Het
Cntrl	T	C	2: 35,039,034 (GRCm39)		probably benign	Het
Defb41	A	G	1: 18,335,248 (GRCm39)		probably null	Het
Edc4	C	A	8: 106,617,637 (GRCm39)	T1094K	probably damaging	Het
Exoc4	T	A	6: 33,895,359 (GRCm39)	I792N	possibly damaging	Het
G3bp2	A	T	5: 92,211,187 (GRCm39)		probably benign	Het
Herc6	T	A	6: 57,639,204 (GRCm39)	N888K	probably damaging	Het
Iqgap1	G	A	7: 80,373,576 (GRCm39)	T1471M	probably benign	Het
Kpna6	G	T	4: 129,541,896 (GRCm39)	H500Q	probably benign	Het
Krt78	G	A	15: 101,854,896 (GRCm39)	Q972*	probably null	Het
Krtap9-5	T	A	11: 99,839,589 (GRCm39)	C97S	unknown	Het
Mapk10	T	A	5: 103,139,723 (GRCm39)		probably benign	Het
Mybphl	A	G	3: 108,272,319 (GRCm39)	T3A	probably benign	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Oca2	A	G	7: 55,966,141 (GRCm39)	I378V	probably damaging	Het
Or7a39	T	A	10: 78,715,517 (GRCm39)	C170*	probably null	Het
Pax6	C	A	2: 105,510,646 (GRCm39)	Q2K	probably benign	Het
Plxna2	C	A	1: 194,462,818 (GRCm39)		probably null	Het
Ppp1r13b	A	G	12: 111,801,550 (GRCm39)	L378P	probably damaging	Het
Prkdc	G	A	16: 15,570,646 (GRCm39)	E2310K	probably damaging	Het
Pth2r	G	A	1: 65,411,507 (GRCm39)	G348E	possibly damaging	Het
Rarb	T	C	14: 16,436,769 (GRCm38)	I251V	probably damaging	Het
Rasa2	A	G	9: 96,434,376 (GRCm39)	L637P	probably damaging	Het
Sucla2	C	T	14: 73,798,074 (GRCm39)		probably benign	Het
Syt1	A	T	10: 108,472,523 (GRCm39)	D120E	probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tmbim1	A	G	1: 74,329,905 (GRCm39)		probably benign	Het
Tnfrsf25	G	A	4: 152,202,745 (GRCm39)	C191Y	probably damaging	Het
Tnn	T	C	1: 159,952,968 (GRCm39)	K691E	probably damaging	Het
Trim7	T	A	11: 48,728,646 (GRCm39)	V98E	probably damaging	Het
Tspan3	A	G	9: 56,068,104 (GRCm39)	F15L	probably benign	Het
Uap1l1	A	G	2: 25,252,759 (GRCm39)	L427S	probably damaging	Het
Upf1	A	C	8: 70,791,053 (GRCm39)	M574R	probably damaging	Het
Ush2a	T	A	1: 188,282,404 (GRCm39)	V1931E	probably benign	Het
Zfp3	T	C	11: 70,663,411 (GRCm39)	S457P	probably 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
R4163:Bpifa3	UTSW	2	153,977,516 (GRCm39)	missense	probably damaging	0.97
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'- TGAAGTCCCCACCTCATAGACTCG -3'
(R):5'- TCCACCCTACTGGATGTGCAGAAC -3'

Sequencing Primer
(F):5'- CTTCAAGAGGTAGACATGGGTG -3'
(R):5'- AAGCTAGAATCTCCAGTCTGGTG -3'

Posted On

2013-11-18