Mutagenetix > Incidental Mutation

Incidental Mutation 'R0561:Bpifb4'

45857

Institutional Source

Beutler Lab

Gene Symbol

Bpifb4

Ensembl Gene

ENSMUSG00000074665

Gene Name

BPI fold containing family B, member 4

Synonyms

Gm1006, LOC381399

Accession Numbers

Essential gene?

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

Stock #

R0561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

153780137-153805772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153786742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 298 (D298G)

Ref Sequence

ENSEMBL: ENSMUSP00000105381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099181] [ENSMUST00000109757] [ENSMUST00000109759]

AlphaFold

A2BGH0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099181
AA Change: D84G

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096786
Gene: ENSMUSG00000074665
AA Change: D84G

Domain	Start	End	E-Value	Type
BPI1	2	177	3.47e-25	SMART
BPI2	201	403	3.62e-78	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109757
AA Change: D298G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105379
Gene: ENSMUSG00000074665
AA Change: D298G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
BPI1	171	391	1.23e-48	SMART
BPI2	415	617	3.62e-78	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109759
AA Change: D298G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105381
Gene: ENSMUSG00000074665
AA Change: D298G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
BPI1	171	391	1.23e-48	SMART
BPI2	415	617	3.62e-78	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155239

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	G	12: 88,335,204 (GRCm39)	D30G	possibly damaging	Het
Apc	A	T	18: 34,446,356 (GRCm39)	H1050L	possibly damaging	Het
Armc2	A	G	10: 41,869,188 (GRCm39)	V166A	probably benign	Het
Atp6v1b1	A	T	6: 83,730,793 (GRCm39)	I173F	probably damaging	Het
C4b	T	A	17: 34,953,391 (GRCm39)	S1031C	probably damaging	Het
Calcr	A	G	6: 3,692,630 (GRCm39)	I408T	probably damaging	Het
Catsperg1	T	C	7: 28,881,737 (GRCm39)	N1009S	probably damaging	Het
Ces2a	T	C	8: 105,464,165 (GRCm39)	S266P	probably benign	Het
Chrna1	A	G	2: 73,396,596 (GRCm39)	V433A	possibly damaging	Het
Ctnnb1	G	A	9: 120,780,788 (GRCm39)	V291M	probably damaging	Het
Dcbld1	T	C	10: 52,138,032 (GRCm39)	Y99H	probably benign	Het
Ddx60	A	T	8: 62,470,828 (GRCm39)	H1440L	possibly damaging	Het
Dsg1c	A	T	18: 20,407,832 (GRCm39)	I393L	probably benign	Het
Eif5	G	T	12: 111,506,950 (GRCm39)	R128L	probably benign	Het
Ercc3	A	G	18: 32,378,592 (GRCm39)	D191G	possibly damaging	Het
Gp1ba	A	T	11: 70,530,416 (GRCm39)		probably benign	Het
Krt24	C	T	11: 99,175,439 (GRCm39)	E199K	probably damaging	Het
Lrif1	G	T	3: 106,639,481 (GRCm39)	A164S	probably damaging	Het
Map2	A	G	1: 66,464,656 (GRCm39)	D1682G	probably damaging	Het
Megf8	C	T	7: 25,028,257 (GRCm39)	P274S	probably benign	Het
Mslnl	C	T	17: 25,962,177 (GRCm39)	Q192*	probably null	Het
Nfkb2	T	C	19: 46,298,301 (GRCm39)	V535A	possibly damaging	Het
Or10q1	A	T	19: 13,726,662 (GRCm39)	Y64F	probably damaging	Het
Or4a66	A	G	2: 88,530,914 (GRCm39)	I253T	possibly damaging	Het
Or4c11	T	A	2: 88,695,024 (GRCm39)	V25E	possibly damaging	Het
Or7a37	T	A	10: 78,805,729 (GRCm39)	L82*	probably null	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Or8g22	C	T	9: 38,958,669 (GRCm39)	M15I	probably damaging	Het
Pag1	T	A	3: 9,764,481 (GRCm39)	Y224F	probably damaging	Het
Pbrm1	A	C	14: 30,757,948 (GRCm39)	I193L	probably benign	Het
Phrf1	T	C	7: 140,834,876 (GRCm39)	V17A	probably benign	Het
Plekhg2	T	G	7: 28,069,908 (GRCm39)	T42P	probably benign	Het
Pmp22	T	A	11: 63,025,250 (GRCm39)	W28R	probably damaging	Het
Ppp1r13b	A	T	12: 111,832,880 (GRCm39)	H82Q	probably damaging	Het
Rgs8	T	C	1: 153,541,668 (GRCm39)		probably null	Het
Rtl1	A	G	12: 109,560,363 (GRCm39)	V492A	probably damaging	Het
Slc22a27	A	G	19: 7,857,527 (GRCm39)		probably null	Het
Slx4ip	A	G	2: 136,908,090 (GRCm39)	E79G	probably null	Het
Syde1	C	T	10: 78,425,210 (GRCm39)	R267H	probably damaging	Het
Tas2r114	A	G	6: 131,666,758 (GRCm39)	I90T	probably benign	Het
Tjp3	C	T	10: 81,109,674 (GRCm39)	G843D	probably benign	Het
Tln1	A	T	4: 43,550,304 (GRCm39)	M453K	possibly damaging	Het
Ttc39a	A	T	4: 109,297,799 (GRCm39)	Y408F	probably damaging	Het
Usp39	T	G	6: 72,313,368 (GRCm39)	Q274P	probably damaging	Het
Uvrag	C	T	7: 98,537,768 (GRCm39)	V476I	probably damaging	Het
Vcan	T	A	13: 89,860,372 (GRCm39)	T332S	probably damaging	Het
Vcan	T	A	13: 89,879,583 (GRCm39)	H22L	possibly damaging	Het
Wls	A	G	3: 159,578,705 (GRCm39)	D89G	probably benign	Het
Zfhx2	A	T	14: 55,303,346 (GRCm39)	V1546E	probably benign	Het
Zfp457	T	A	13: 67,442,134 (GRCm39)	H147L	probably damaging	Het

Other mutations in Bpifb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01567:Bpifb4	APN	2	153,789,198 (GRCm39)	splice site	probably benign
IGL01641:Bpifb4	APN	2	153,784,601 (GRCm39)	missense	possibly damaging	0.96
IGL01653:Bpifb4	APN	2	153,786,703 (GRCm39)	missense	probably damaging	1.00
IGL02745:Bpifb4	APN	2	153,789,141 (GRCm39)	missense	probably damaging	1.00
R0106:Bpifb4	UTSW	2	153,782,888 (GRCm39)	missense	probably benign	0.02
R0309:Bpifb4	UTSW	2	153,801,603 (GRCm39)	missense	probably damaging	0.97
R0601:Bpifb4	UTSW	2	153,789,203 (GRCm39)	splice site	probably benign
R1937:Bpifb4	UTSW	2	153,785,996 (GRCm39)	missense	probably damaging	0.98
R2433:Bpifb4	UTSW	2	153,801,597 (GRCm39)	missense	probably damaging	0.98
R2679:Bpifb4	UTSW	2	153,790,544 (GRCm39)	missense	probably damaging	0.97
R2896:Bpifb4	UTSW	2	153,796,357 (GRCm39)	splice site	probably benign
R4701:Bpifb4	UTSW	2	153,792,305 (GRCm39)	missense	probably damaging	1.00
R4772:Bpifb4	UTSW	2	153,784,903 (GRCm39)	missense	possibly damaging	0.93
R5403:Bpifb4	UTSW	2	153,785,912 (GRCm39)	missense	probably damaging	0.99
R5695:Bpifb4	UTSW	2	153,784,843 (GRCm39)	missense	probably damaging	0.99
R5894:Bpifb4	UTSW	2	153,782,852 (GRCm39)	missense	possibly damaging	0.49
R6007:Bpifb4	UTSW	2	153,784,480 (GRCm39)	missense	possibly damaging	0.49
R6302:Bpifb4	UTSW	2	153,801,587 (GRCm39)	missense	probably benign	0.00
R6351:Bpifb4	UTSW	2	153,799,054 (GRCm39)	missense	probably damaging	0.96
R6755:Bpifb4	UTSW	2	153,799,658 (GRCm39)	missense	probably damaging	0.98
R6796:Bpifb4	UTSW	2	153,803,467 (GRCm39)	missense	probably damaging	1.00
R6932:Bpifb4	UTSW	2	153,784,547 (GRCm39)	missense	possibly damaging	0.49
R7489:Bpifb4	UTSW	2	153,785,924 (GRCm39)	missense	probably damaging	1.00
R7986:Bpifb4	UTSW	2	153,799,650 (GRCm39)	missense	probably benign	0.00
R8826:Bpifb4	UTSW	2	153,783,817 (GRCm39)	missense	probably benign	0.01
R9019:Bpifb4	UTSW	2	153,790,607 (GRCm39)	nonsense	probably null
RF061:Bpifb4	UTSW	2	153,799,048 (GRCm39)	critical splice acceptor site	probably benign
X0018:Bpifb4	UTSW	2	153,785,981 (GRCm39)	missense	probably damaging	1.00
Z1176:Bpifb4	UTSW	2	153,784,752 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- AGAGTTTGTAGCAAGCCCTGTTCC -3'
(R):5'- TGCCCACATCCTGGGTTCAAAG -3'

Sequencing Primer
(F):5'- AGAATCAGTGCTCAGACCTG -3'
(R):5'- AAGGCTCAGCCCTTGAATTATC -3'

Posted On

2013-06-11