Mutagenetix > Incidental Mutation

Incidental Mutation 'R4450:Bpifb6'

328911

Institutional Source

Beutler Lab

Gene Symbol

Bpifb6

Ensembl Gene

ENSMUSG00000068009

Gene Name

BPI fold containing family B, member 6

Synonyms

Bpil3, LOC228796

MMRRC Submission

041711-MU

Accession Numbers

Essential gene?

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

Stock #

R4450 (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: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3930402G23Rik	T	A	8: 10,976,129 (GRCm39)		noncoding transcript	Het
Acsl6	A	G	11: 54,219,229 (GRCm39)	D278G	probably damaging	Het
Adamdec1	C	T	14: 68,810,568 (GRCm39)	R196Q	probably benign	Het
Akap13	T	A	7: 75,392,508 (GRCm39)	F2450L	probably damaging	Het
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Angel1	A	T	12: 86,768,698 (GRCm39)	Y262N	probably damaging	Het
Arhgef18	A	G	8: 3,487,097 (GRCm39)	E272G	probably damaging	Het
Brca2	T	G	5: 150,459,518 (GRCm39)	D264E	probably damaging	Het
Cdca4	T	C	12: 112,785,278 (GRCm39)	N150S	probably benign	Het
Cep162	T	C	9: 87,107,861 (GRCm39)	S510G	probably damaging	Het
Cldn12	T	C	5: 5,558,398 (GRCm39)	T10A	probably damaging	Het
Clip2	C	T	5: 134,531,807 (GRCm39)	G631D	possibly damaging	Het
Col19a1	T	A	1: 24,361,116 (GRCm39)	T625S	probably damaging	Het
Col6a5	C	T	9: 105,781,720 (GRCm39)	G1635D	unknown	Het
Dcp1b	A	G	6: 119,183,437 (GRCm39)	T175A	probably benign	Het
Eln	C	T	5: 134,754,635 (GRCm39)		probably benign	Het
Galnt2	A	G	8: 125,022,116 (GRCm39)	D14G	probably benign	Het
Gm9894	T	A	13: 67,913,199 (GRCm39)		noncoding transcript	Het
Herc2	T	C	7: 55,877,640 (GRCm39)	L4569P	probably damaging	Het
Iqcm	T	C	8: 76,356,394 (GRCm39)	S176P	probably damaging	Het
Klhl42	G	A	6: 146,993,169 (GRCm39)	G47D	probably benign	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lzts2	A	T	19: 45,012,032 (GRCm39)	K154*	probably null	Het
Map4k3	C	T	17: 80,911,411 (GRCm39)		probably null	Het
Mlc1	A	G	15: 88,847,693 (GRCm39)	F285S	probably benign	Het
Myo5a	T	A	9: 75,074,458 (GRCm39)	M789K	probably benign	Het
Nbeal1	T	A	1: 60,306,933 (GRCm39)	S319T	probably damaging	Het
Nsun4	A	T	4: 115,908,453 (GRCm39)	Y702*	probably null	Het
Or8b52	A	T	9: 38,577,050 (GRCm39)	V30E	probably benign	Het
Or8g34	G	A	9: 39,373,328 (GRCm39)	M200I	probably benign	Het
Osbpl5	T	A	7: 143,248,643 (GRCm39)	T640S	probably benign	Het
Plaat1	C	T	16: 29,046,976 (GRCm39)	T165M	possibly damaging	Het
Rangrf	A	T	11: 68,866,010 (GRCm39)		probably benign	Het
Rnpc3	T	C	3: 113,404,786 (GRCm39)		probably benign	Het
Ros1	C	T	10: 51,954,038 (GRCm39)	G1867D	probably damaging	Het
Slc11a1	C	A	1: 74,424,694 (GRCm39)		probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Syt6	A	G	3: 103,492,961 (GRCm39)	H156R	probably benign	Het
Tln2	C	T	9: 67,251,347 (GRCm39)		probably null	Het
Trim58	T	C	11: 58,542,191 (GRCm39)	W384R	probably benign	Het
Wwc2	A	G	8: 48,321,702 (GRCm39)	Y471H	unknown	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
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'- CCATCAGCAGTTCTGCATCC -3'

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

Posted On

2015-07-21