Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03143:Bpifb6'

410766

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bpifb6

Ensembl Gene

ENSMUSG00000068009

Gene Name

BPI fold containing family B, member 6

Synonyms

Bpil3, LOC228796

Accession Numbers

Essential gene?

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

Stock #

IGL03143

Quality Score

Status

Chromosome

Chromosomal Location

153742308-153754715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 153744655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 32 (N32T)

Ref Sequence

ENSEMBL: ENSMUSP00000119046 (fasta)

Gene Model

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

AlphaFold

Q8BU51

Predicted Effect

probably damaging
Transcript: ENSMUST00000088955
AA Change: N32T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000086347
Gene: ENSMUSG00000068009
AA Change: N32T

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 damaging
Transcript: ENSMUST00000135501
AA Change: N32T

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

SMART Domains

Protein: ENSMUSP00000119046
Gene: ENSMUSG00000068009
AA Change: N32T

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	T	G	9: 121,738,333 (GRCm39)	L236R	probably damaging	Het
Agbl1	C	T	7: 76,069,793 (GRCm39)	Q442*	probably null	Het
Ahrr	G	A	13: 74,405,614 (GRCm39)	Q108*	probably null	Het
Ankrd23	T	C	1: 36,570,726 (GRCm39)		probably benign	Het
Art5	A	G	7: 101,747,104 (GRCm39)	I225T	probably damaging	Het
Asxl3	T	C	18: 22,656,031 (GRCm39)	V1347A	probably benign	Het
Birc6	A	G	17: 74,905,994 (GRCm39)	M1326V	possibly damaging	Het
Brip1	T	A	11: 85,952,653 (GRCm39)	T1043S	possibly damaging	Het
Cbx5	A	T	15: 103,121,532 (GRCm39)	V35E	probably damaging	Het
Ccdc175	T	A	12: 72,182,832 (GRCm39)	M396L	probably benign	Het
Ceacam3	G	T	7: 16,892,045 (GRCm39)	E263*	probably null	Het
Cyp4a12a	A	G	4: 115,159,200 (GRCm39)	T157A	probably benign	Het
Dennd11	A	T	6: 40,399,828 (GRCm39)		probably benign	Het
Derl3	T	C	10: 75,730,324 (GRCm39)	V129A	possibly damaging	Het
Dnajb1	T	C	8: 84,335,103 (GRCm39)	I48T	probably damaging	Het
Dop1b	G	A	16: 93,556,543 (GRCm39)	E349K	probably benign	Het
Fkbp10	A	T	11: 100,313,580 (GRCm39)	I285F	probably benign	Het
Frrs1	A	T	3: 116,692,836 (GRCm39)	T37S	probably damaging	Het
Gata2	A	G	6: 88,181,677 (GRCm39)	Y377C	probably damaging	Het
Gm9789	T	A	16: 88,954,883 (GRCm39)		probably benign	Het
Itpkb	T	A	1: 180,160,933 (GRCm39)	V353D	probably benign	Het
Kcng4	T	C	8: 120,352,509 (GRCm39)	E467G	probably damaging	Het
Kdm3a	A	T	6: 71,573,845 (GRCm39)	I906N	probably damaging	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Lamc1	A	T	1: 153,208,020 (GRCm39)	L89Q	probably benign	Het
Lef1	G	T	3: 130,993,965 (GRCm39)	E314*	probably null	Het
Lpin3	T	C	2: 160,745,518 (GRCm39)		probably benign	Het
Mrtfb	A	G	16: 13,218,676 (GRCm39)	N452D	possibly damaging	Het
Naaladl1	C	T	19: 6,164,896 (GRCm39)	T628I	possibly damaging	Het
Nell1	C	T	7: 49,929,281 (GRCm39)	Q259*	probably null	Het
Neu2	G	T	1: 87,524,698 (GRCm39)	E228*	probably null	Het
Or5b119	A	T	19: 13,456,835 (GRCm39)	H242Q	probably damaging	Het
Or5k15	A	G	16: 58,709,824 (GRCm39)	F253S	probably damaging	Het
Or8g21	T	G	9: 38,906,732 (GRCm39)		probably benign	Het
Or8k20	T	C	2: 86,106,580 (GRCm39)	N84D	probably benign	Het
Osbpl6	T	A	2: 76,378,716 (GRCm39)	D124E	probably damaging	Het
Palm	T	C	10: 79,652,617 (GRCm39)		probably benign	Het
Parp8	C	A	13: 117,047,497 (GRCm39)		probably benign	Het
Pax7	A	G	4: 139,556,798 (GRCm39)		probably benign	Het
Pcnx3	G	A	19: 5,735,423 (GRCm39)	R468W	probably damaging	Het
Pds5b	T	A	5: 150,702,722 (GRCm39)	V818D	probably damaging	Het
Piezo2	C	T	18: 63,241,147 (GRCm39)	V694I	probably damaging	Het
Plk1	A	G	7: 121,760,877 (GRCm39)		probably benign	Het
Polb	T	C	8: 23,130,367 (GRCm39)		probably benign	Het
Rad54b	A	G	4: 11,599,755 (GRCm39)	T320A	probably damaging	Het
Reg3b	G	A	6: 78,349,183 (GRCm39)	W103*	probably null	Het
Slc17a3	T	G	13: 24,039,962 (GRCm39)		probably null	Het
Snrnp200	C	T	2: 127,071,962 (GRCm39)		probably benign	Het
Stox2	T	A	8: 47,646,839 (GRCm39)	H207L	possibly damaging	Het
Tbx15	A	C	3: 99,259,514 (GRCm39)	M462L	possibly damaging	Het
Tcirg1	G	A	19: 3,948,811 (GRCm39)	T458I	probably damaging	Het
Tnfrsf25	A	G	4: 152,201,384 (GRCm39)		probably benign	Het
Trank1	A	G	9: 111,195,155 (GRCm39)	K1060E	probably damaging	Het
Ttc16	T	C	2: 32,664,457 (GRCm39)	D3G	possibly damaging	Het
Vmn1r199	A	C	13: 22,567,299 (GRCm39)	N155H	probably damaging	Het
Vmn1r202	G	A	13: 22,685,640 (GRCm39)	T259I	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
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
R9767:Bpifb6	UTSW	2	153,751,148 (GRCm39)	critical splice donor site	probably null

Posted On

2016-08-02