Mutagenetix > Incidental Mutation

Incidental Mutation 'R7986:Bpifb4'

651470

Institutional Source

Beutler Lab

Gene Symbol

Bpifb4

Ensembl Gene

ENSMUSG00000074665

Gene Name

BPI fold containing family B, member 4

Synonyms

Gm1006, LOC381399

MMRRC Submission

046027-MU

Accession Numbers

Essential gene?

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

Stock #

R7986 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153780137-153805772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153799650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 339 (N339S)

Ref Sequence

ENSEMBL: ENSMUSP00000096786 (fasta)

Gene Model

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

AlphaFold

A2BGH0

Predicted Effect

probably benign
Transcript: ENSMUST00000099181
AA Change: N339S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000096786
Gene: ENSMUSG00000074665
AA Change: N339S

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: N553S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105379
Gene: ENSMUSG00000074665
AA Change: N553S

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: N553S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105381
Gene: ENSMUSG00000074665
AA Change: N553S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	G	T	16: 85,596,435 (GRCm39)	A401D	probably damaging	Het
Akap10	C	T	11: 61,820,890 (GRCm39)	G5R	probably damaging	Het
Arhgap21	A	C	2: 20,867,967 (GRCm39)	L1023W	probably damaging	Het
Btbd17	A	G	11: 114,683,341 (GRCm39)	Y124H	probably damaging	Het
Cacna1a	C	G	8: 85,365,408 (GRCm39)	R2184G	probably benign	Het
Cavin1	A	G	11: 100,861,102 (GRCm39)	I64T	probably damaging	Het
Cby3	A	G	11: 50,250,106 (GRCm39)	H9R	possibly damaging	Het
Ccdc141	A	G	2: 76,845,461 (GRCm39)	L1202P	probably benign	Het
Cd109	A	G	9: 78,596,048 (GRCm39)	I794V	possibly damaging	Het
Col12a1	C	T	9: 79,511,674 (GRCm39)		probably null	Het
Col6a2	A	G	10: 76,450,972 (GRCm39)	L23P	probably benign	Het
Csf1r	A	G	18: 61,247,904 (GRCm39)	H324R	probably benign	Het
D430041D05Rik	A	G	2: 104,087,096 (GRCm39)	S627P	probably damaging	Het
Dffb	G	A	4: 154,054,504 (GRCm39)	S195F	probably damaging	Het
Fstl5	T	A	3: 76,337,097 (GRCm39)	Y219N	probably damaging	Het
Gm29106	A	T	1: 118,128,000 (GRCm39)	H564L	possibly damaging	Het
Gpt2	T	A	8: 86,235,839 (GRCm39)	C158*	probably null	Het
Grin1	G	T	2: 25,185,841 (GRCm39)	A872D	probably damaging	Het
Hoxa1	T	C	6: 52,135,018 (GRCm39)	S62G	probably benign	Het
Krt28	T	C	11: 99,257,651 (GRCm39)	N397D	probably benign	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Llgl1	G	T	11: 60,602,221 (GRCm39)	A755S	probably benign	Het
Lmod2	A	G	6: 24,603,448 (GRCm39)	E141G	possibly damaging	Het
Loxhd1	A	T	18: 77,462,890 (GRCm39)	T910S	possibly damaging	Het
Masp2	A	G	4: 148,687,283 (GRCm39)	Y55C	probably damaging	Het
Nek10	A	C	14: 15,001,020 (GRCm38)	S1067R	probably benign	Het
Nemp2	C	T	1: 52,669,981 (GRCm39)	A22V	probably benign	Het
Npy2r	T	A	3: 82,448,803 (GRCm39)		probably null	Het
Nr1h4	A	T	10: 89,290,634 (GRCm39)	S469T	possibly damaging	Het
Nr4a3	T	C	4: 48,055,954 (GRCm39)	Y327H	probably damaging	Het
Or10ag52	A	G	2: 87,043,922 (GRCm39)	I229V	probably benign	Het
Or5an1b	C	T	19: 12,300,102 (GRCm39)	V30I	probably benign	Het
Pramel26	A	T	4: 143,538,590 (GRCm39)	L127*	probably null	Het
Prss1l	T	C	6: 41,373,058 (GRCm39)	I110T	probably damaging	Het
Ptpdc1	G	A	13: 48,746,046 (GRCm39)	A118V	probably damaging	Het
Raph1	T	C	1: 60,535,445 (GRCm39)	Y73C		Het
Rtl1	A	G	12: 109,558,492 (GRCm39)	S1116P	possibly damaging	Het
Secisbp2	T	C	13: 51,819,395 (GRCm39)	I325T	probably damaging	Het
Setd5	T	C	6: 113,105,418 (GRCm39)	S817P	probably benign	Het
Sirt6	A	G	10: 81,458,344 (GRCm39)	L303P	probably benign	Het
Slc46a2	G	T	4: 59,911,858 (GRCm39)	F451L	probably benign	Het
Sorbs1	T	A	19: 40,353,449 (GRCm39)	I219F	probably damaging	Het
Tmem178	A	G	17: 81,308,273 (GRCm39)	I223V	possibly damaging	Het
Trps1	T	G	15: 50,525,132 (GRCm39)	T933P	probably damaging	Het
Trps1	A	G	15: 50,753,019 (GRCm39)	F16S	probably benign	Het
Virma	T	A	4: 11,540,023 (GRCm39)	S1447R	probably benign	Het
Vmn1r230	T	C	17: 21,067,119 (GRCm39)	Y103H	probably damaging	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Ybx3	T	A	6: 131,356,362 (GRCm39)	R170*	probably null	Het
Zfp423	T	C	8: 88,506,978 (GRCm39)	D1122G	probably benign	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
R0561:Bpifb4	UTSW	2	153,786,742 (GRCm39)	missense	probably damaging	1.00
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
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'- ATGGTGTCCGAAACGTTGTTAG -3'
(R):5'- TCCCAAGGCATCTGCTAAGG -3'

Sequencing Primer
(F):5'- CCGAAACGTTGTTAGTGCTCAGTAC -3'
(R):5'- CTAAGGCGAGCAGTGCCATTG -3'

Posted On

2020-09-15