Mutagenetix > Incidental Mutation

Incidental Mutation 'R9767:Bpifb6'

733321

Institutional Source

Beutler Lab

Gene Symbol

Bpifb6

Ensembl Gene

ENSMUSG00000068009

Gene Name

BPI fold containing family B, member 6

Synonyms

Bpil3, LOC228796

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R9767 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153742308-153754715 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 153751148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000086347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088955] [ENSMUST00000135501]

AlphaFold

Q8BU51

Predicted Effect

probably null
Transcript: ENSMUST00000088955

SMART Domains

Protein: ENSMUSP00000086347
Gene: ENSMUSG00000068009

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
BPI1	22	228	7.83e-3	SMART
BPI2	245	446	2.5e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135501

SMART Domains

Protein: ENSMUSP00000119046
Gene: ENSMUSG00000068009

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
BPI1	22	228	7.83e-3	SMART
Blast:BPI2	245	279	1e-11	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	T	3: 151,207,394 (GRCm39)	M314L	probably benign	Het
Ank3	T	C	10: 69,823,799 (GRCm39)	S41P	probably damaging	Het
Aox4	A	C	1: 58,274,357 (GRCm39)	N381T	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cep350	A	G	1: 155,739,018 (GRCm39)	V2275A	probably benign	Het
Cntn4	G	A	6: 106,655,395 (GRCm39)	G831E	probably benign	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Dchs2	A	G	3: 83,212,206 (GRCm39)	I2002V	probably benign	Het
Dennd2a	G	A	6: 39,483,709 (GRCm39)	R384C	probably damaging	Het
Dock1	A	G	7: 134,342,796 (GRCm39)	T136A	possibly damaging	Het
Eif2s2	A	T	2: 154,730,125 (GRCm39)	D57E	probably benign	Het
Eml2	C	T	7: 18,920,083 (GRCm39)	T129I	probably benign	Het
Flad1	A	C	3: 89,310,718 (GRCm39)	I443S	probably benign	Het
Glis1	A	T	4: 107,491,794 (GRCm39)	T741S	probably benign	Het
Gpr156	A	G	16: 37,818,297 (GRCm39)	Y331C	probably damaging	Het
Lrwd1	C	T	5: 136,162,856 (GRCm39)	V122M	possibly damaging	Het
Ndufs2	G	T	1: 171,068,643 (GRCm39)	P89Q	probably damaging	Het
Nkx1-2	C	T	7: 132,199,402 (GRCm39)	V120I	probably benign	Het
Or2t35	C	T	14: 14,407,929 (GRCm38)	R234W	probably damaging	Het
Or7a41	T	C	10: 78,870,765 (GRCm39)	L45P	possibly damaging	Het
Pcdhga3	T	A	18: 37,808,096 (GRCm39)	I183N	probably benign	Het
Pkhd1	T	C	1: 20,484,636 (GRCm39)	D1973G	probably benign	Het
Ppp1r3a	A	G	6: 14,718,101 (GRCm39)	S938P	probably benign	Het
Prss27	G	T	17: 24,257,283 (GRCm39)	M1I	probably null	Het
Rai14	T	C	15: 10,610,127 (GRCm39)	T74A	probably benign	Het
Rcc2	C	T	4: 140,435,331 (GRCm39)	R117W	probably damaging	Het
Rpl31	T	A	1: 39,410,189 (GRCm39)	*130R	probably null	Het
Rplp0	T	C	5: 115,699,563 (GRCm39)	S213P	probably benign	Het
Sdcbp2	T	C	2: 151,429,057 (GRCm39)	I152T	probably damaging	Het
Senp3	T	C	11: 69,569,013 (GRCm39)	T383A	possibly damaging	Het
Sod2	C	A	17: 13,227,180 (GRCm39)	Q45K	probably benign	Het
Speg	A	T	1: 75,403,825 (GRCm39)	I2669F	possibly damaging	Het
Stat4	T	G	1: 52,141,653 (GRCm39)	F577V	probably damaging	Het
Tex9	C	A	9: 72,368,518 (GRCm39)	E377*	probably null	Het
Tmprss15	A	T	16: 78,875,977 (GRCm39)	V119D	probably damaging	Het
Unc79	T	C	12: 103,079,234 (GRCm39)	S1800P	probably benign	Het
Vldlr	A	G	19: 27,212,274 (GRCm39)	D96G	probably damaging	Het
Vmn2r51	G	T	7: 9,839,407 (GRCm39)	N60K	probably benign	Het
Vps13b	A	G	15: 35,910,403 (GRCm39)	D3389G	probably damaging	Het
Vps13d	C	T	4: 144,879,306 (GRCm39)	E1506K		Het
Zfp1	A	G	8: 112,396,203 (GRCm39)	N75D	probably benign	Het

Other mutations in Bpifb6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02691:Bpifb6	APN	2	153,744,565 (GRCm39)	missense	unknown
IGL03143:Bpifb6	APN	2	153,744,655 (GRCm39)	missense	probably damaging	1.00
R0157:Bpifb6	UTSW	2	153,745,886 (GRCm39)	missense	probably benign	0.04
R1607:Bpifb6	UTSW	2	153,748,781 (GRCm39)	missense	probably damaging	1.00
R1678:Bpifb6	UTSW	2	153,750,562 (GRCm39)	missense	probably damaging	0.96
R1745:Bpifb6	UTSW	2	153,753,403 (GRCm39)	missense	possibly damaging	0.85
R1786:Bpifb6	UTSW	2	153,748,781 (GRCm39)	missense	probably damaging	1.00
R1990:Bpifb6	UTSW	2	153,747,270 (GRCm39)	critical splice donor site	probably null
R2087:Bpifb6	UTSW	2	153,747,998 (GRCm39)	missense	possibly damaging	0.88
R3717:Bpifb6	UTSW	2	153,750,061 (GRCm39)	unclassified	probably benign
R4449:Bpifb6	UTSW	2	153,748,688 (GRCm39)	missense	possibly damaging	0.56
R4450:Bpifb6	UTSW	2	153,748,688 (GRCm39)	missense	possibly damaging	0.56
R4709:Bpifb6	UTSW	2	153,750,436 (GRCm39)	missense	possibly damaging	0.87
R4710:Bpifb6	UTSW	2	153,750,436 (GRCm39)	missense	possibly damaging	0.87
R6113:Bpifb6	UTSW	2	153,752,651 (GRCm39)	missense	probably benign
R6267:Bpifb6	UTSW	2	153,748,812 (GRCm39)	missense	possibly damaging	0.50
R6296:Bpifb6	UTSW	2	153,748,812 (GRCm39)	missense	possibly damaging	0.50
R6406:Bpifb6	UTSW	2	153,746,457 (GRCm39)	missense	possibly damaging	0.88
R7049:Bpifb6	UTSW	2	153,750,733 (GRCm39)	splice site	probably null
R7098:Bpifb6	UTSW	2	153,748,810 (GRCm39)	nonsense	probably null
R7740:Bpifb6	UTSW	2	153,744,929 (GRCm39)	missense	probably damaging	1.00
R8673:Bpifb6	UTSW	2	153,747,212 (GRCm39)	missense	probably damaging	1.00
R9287:Bpifb6	UTSW	2	153,746,535 (GRCm39)	missense	probably damaging	1.00
R9440:Bpifb6	UTSW	2	153,747,914 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- AGACACAAAGATCCTGGGCTAG -3'
(R):5'- TGGATGGATCTGTGTGAGAACC -3'

Sequencing Primer
(F):5'- CTAGGGTTGTGGAGAGGCTGC -3'
(R):5'- TTGGAATCCAAGAGGTGTCACC -3'

Posted On

2022-11-14