Mutagenetix > Incidental Mutation

Incidental Mutation 'R4449:Bpifb6'

328866

Institutional Source

Beutler Lab

Gene Symbol

Bpifb6

Ensembl Gene

ENSMUSG00000068009

Gene Name

BPI fold containing family B, member 6

Synonyms

Bpil3, LOC228796

MMRRC Submission

041710-MU

Accession Numbers

Essential gene?

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

Stock #

R4449 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153742308-153754715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153748688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 228 (E228G)

Ref Sequence

ENSEMBL: ENSMUSP00000119046 (fasta)

Gene Model

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

AlphaFold

Q8BU51

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088955
AA Change: E228G

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000086347
Gene: ENSMUSG00000068009
AA Change: E228G

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

possibly damaging
Transcript: ENSMUST00000135501
AA Change: E228G

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119046
Gene: ENSMUSG00000068009
AA Change: E228G

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgap3	A	T	15: 83,218,759 (GRCm39)	Y105N	probably damaging	Het
Arid3b	T	A	9: 57,705,404 (GRCm39)	K266*	probably null	Het
Bend3	A	G	10: 43,388,079 (GRCm39)	E824G	possibly damaging	Het
Cadm1	T	A	9: 47,725,286 (GRCm39)		probably benign	Het
Cadm1	C	T	9: 47,441,735 (GRCm39)	A22V	possibly damaging	Het
Cntrob	C	A	11: 69,196,375 (GRCm39)	D687Y	probably benign	Het
Dap3	A	T	3: 88,857,185 (GRCm39)		probably benign	Het
Ddc	T	C	11: 11,785,802 (GRCm39)	D295G	probably damaging	Het
Fut10	T	A	8: 31,726,285 (GRCm39)	Y347N	probably damaging	Het
Galnt2	A	G	8: 125,022,116 (GRCm39)	D14G	probably benign	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Helz	T	C	11: 107,494,989 (GRCm39)	V321A	probably benign	Het
Hnrnpul1	T	C	7: 25,421,709 (GRCm39)		probably benign	Het
Hsdl2	T	A	4: 59,617,692 (GRCm39)	I353K	possibly damaging	Het
Igkv3-2	G	A	6: 70,675,825 (GRCm39)	A45T	probably benign	Het
Kcnh6	A	G	11: 105,909,762 (GRCm39)	Y429C	probably damaging	Het
Luzp1	T	A	4: 136,268,174 (GRCm39)	N132K	probably damaging	Het
Mlycd	T	A	8: 120,137,144 (GRCm39)	Y455N	probably damaging	Het
Myl7	C	T	11: 5,847,354 (GRCm39)	D115N	probably damaging	Het
Or52s1	A	T	7: 102,861,687 (GRCm39)	I196F	probably benign	Het
Pcdh7	A	G	5: 57,877,827 (GRCm39)	T461A	probably damaging	Het
Pi4kb	C	T	3: 94,892,046 (GRCm39)	S254L	probably benign	Het
Pitpnc1	A	G	11: 107,107,535 (GRCm39)	V257A	probably benign	Het
Prpf40b	A	G	15: 99,212,544 (GRCm39)	D596G	probably damaging	Het
Rngtt	T	C	4: 33,330,865 (GRCm39)	F156S	probably damaging	Het
Sema3c	A	G	5: 17,781,844 (GRCm39)		probably benign	Het
Shisa6	T	C	11: 66,416,244 (GRCm39)	T183A	probably benign	Het
Skint3	T	A	4: 112,127,206 (GRCm39)	V287E	possibly damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Slc17a3	A	T	13: 24,040,715 (GRCm39)	S392C	probably damaging	Het
Snx14	T	C	9: 88,305,052 (GRCm39)	I81V	probably benign	Het
Tdrd6	C	T	17: 43,940,626 (GRCm39)	G141S	probably benign	Het
Trappc12	A	T	12: 28,797,234 (GRCm39)	D99E	probably benign	Het
Trim34b	T	C	7: 103,984,935 (GRCm39)	C318R	probably benign	Het
Ttc39a	T	C	4: 109,299,500 (GRCm39)	I449T	possibly damaging	Het
Twsg1	A	C	17: 66,233,305 (GRCm39)	V215G	possibly damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Ubr1	A	G	2: 120,776,862 (GRCm39)	V293A	possibly damaging	Het
Unk	G	A	11: 115,944,460 (GRCm39)	G404S	probably damaging	Het
Virma	T	C	4: 11,498,828 (GRCm39)		probably null	Het
Vps13b	T	C	15: 35,876,939 (GRCm39)	V2864A	possibly damaging	Het
Wdfy4	T	A	14: 32,818,040 (GRCm39)	R1492W	probably damaging	Het
Zcchc3	G	C	2: 152,256,642 (GRCm39)	P19R	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
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

Predicted Primers

PCR Primer
(F):5'- TTGACCTCTCAAGTCACACC -3'
(R):5'- AGCAGTTCTGCATCCGACTC -3'

Sequencing Primer
(F):5'- GTCACACCCGCCCACTTC -3'
(R):5'- TGCATCCGACTCCTGGAC -3'

Posted On

2015-07-21