Mutagenetix > Incidental Mutation

Incidental Mutation 'R6755:Bpifb4'

530990

Institutional Source

Beutler Lab

Gene Symbol

Bpifb4

Ensembl Gene

ENSMUSG00000074665

Gene Name

BPI fold containing family B, member 4

Synonyms

Gm1006, LOC381399

MMRRC Submission

044871-MU

Accession Numbers

Essential gene?

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

Stock #

R6755 (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 153799658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 556 (T556A)

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: T342A

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096786
Gene: ENSMUSG00000074665
AA Change: T342A

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: T556A

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

SMART Domains

Protein: ENSMUSP00000105379
Gene: ENSMUSG00000074665
AA Change: T556A

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: T556A

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

SMART Domains

Protein: ENSMUSP00000105381
Gene: ENSMUSG00000074665
AA Change: T556A

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,475,994 (GRCm39)	T1101M	probably benign	Het
4930433I11Rik	T	C	7: 40,643,734 (GRCm39)	S468P	probably damaging	Het
Adam33	A	G	2: 130,895,069 (GRCm39)	V637A	probably damaging	Het
Adcy5	G	A	16: 35,124,004 (GRCm39)	V1228M	possibly damaging	Het
Ahi1	G	T	10: 20,893,812 (GRCm39)	V848F	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
B4galt6	T	C	18: 20,822,386 (GRCm39)	E264G	probably benign	Het
Bptf	A	T	11: 106,938,082 (GRCm39)	S64T	probably benign	Het
C3ar1	A	G	6: 122,826,817 (GRCm39)	S467P	probably benign	Het
Cables1	G	T	18: 12,072,882 (GRCm39)	S479I	probably null	Het
Cbl	T	C	9: 44,084,671 (GRCm39)	I155V	probably damaging	Het
Cdh16	T	C	8: 105,345,880 (GRCm39)	D297G	probably damaging	Het
Cdk8	T	A	5: 146,205,126 (GRCm39)	H102Q	probably damaging	Het
Cpn2	A	T	16: 30,079,149 (GRCm39)	L184Q	probably damaging	Het
Ctso	T	A	3: 81,849,609 (GRCm39)	H109Q	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drc1	A	G	5: 30,512,490 (GRCm39)	E299G	probably damaging	Het
Elp6	A	G	9: 110,144,893 (GRCm39)	E150G	possibly damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fbn2	A	G	18: 58,246,405 (GRCm39)	L499S	possibly damaging	Het
Fgf10	C	A	13: 118,925,821 (GRCm39)	A200D	probably damaging	Het
Fhad1	T	C	4: 141,691,915 (GRCm39)	E407G	probably damaging	Het
Hif1an	T	C	19: 44,556,891 (GRCm39)	V232A	probably damaging	Het
Ift172	T	A	5: 31,418,342 (GRCm39)	K1214*	probably null	Het
Il20ra	T	C	10: 19,626,542 (GRCm39)	Y189H	probably benign	Het
Isg20l2	T	A	3: 87,838,996 (GRCm39)	I69N	probably benign	Het
Kif11	A	G	19: 37,398,199 (GRCm39)	D675G	probably benign	Het
Klhdc7a	T	A	4: 139,693,786 (GRCm39)	D387V	possibly damaging	Het
Lrrc4	T	C	6: 28,831,292 (GRCm39)	N108D	probably damaging	Het
Ltbp2	T	A	12: 84,841,847 (GRCm39)	E944V	probably damaging	Het
Magi1	C	T	6: 93,685,158 (GRCm39)	S740N	probably damaging	Het
Med26	A	G	8: 73,249,677 (GRCm39)	I474T	probably damaging	Het
Mgst1	T	A	6: 138,124,770 (GRCm39)	M68K	probably damaging	Het
Myh7	G	A	14: 55,229,770 (GRCm39)	A91V	possibly damaging	Het
Nhlrc2	G	A	19: 56,580,216 (GRCm39)	V450I	probably benign	Het
Nup160	T	G	2: 90,530,800 (GRCm39)	F486C	probably damaging	Het
Nup50l	T	C	6: 96,141,953 (GRCm39)	T364A	probably benign	Het
Obscn	A	T	11: 58,994,152 (GRCm39)	Y1602N	probably damaging	Het
Or52ae9	T	A	7: 103,389,707 (GRCm39)	T247S	probably damaging	Het
Or5ak4	C	A	2: 85,162,142 (GRCm39)	M33I	probably benign	Het
Otogl	A	T	10: 107,689,164 (GRCm39)	Y955*	probably null	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pianp	T	C	6: 124,976,347 (GRCm39)	V52A	probably benign	Het
Plekhh2	T	C	17: 84,899,013 (GRCm39)	Y997H	probably damaging	Het
Plekhm1	G	T	11: 103,278,069 (GRCm39)	S342R	possibly damaging	Het
Poglut2	C	T	1: 44,149,894 (GRCm39)		probably null	Het
Ppp4r4	T	A	12: 103,551,996 (GRCm39)	V81E	probably damaging	Het
Pramel52-ps	A	G	5: 94,529,268 (GRCm39)	T13A	probably benign	Het
Ptafr	A	G	4: 132,306,657 (GRCm39)	T16A	probably benign	Het
Ptpn23	A	T	9: 110,218,855 (GRCm39)	L445Q	probably damaging	Het
Rasa1	A	T	13: 85,374,717 (GRCm39)	F751L	possibly damaging	Het
Sap18	A	C	14: 58,039,474 (GRCm39)	D153A	probably damaging	Het
Slc38a11	C	T	2: 65,194,235 (GRCm39)	G10D	probably benign	Het
Snx32	T	C	19: 5,560,372 (GRCm39)	N10D	probably benign	Het
Sox6	T	C	7: 115,261,677 (GRCm39)	T180A	probably damaging	Het
Srrt	T	C	5: 137,301,192 (GRCm39)	K78R	probably damaging	Het
Syce3	T	C	15: 89,281,567 (GRCm39)	D24G	probably damaging	Het
Taok3	T	A	5: 117,344,732 (GRCm39)	I153N	probably damaging	Het
Tesk1	A	G	4: 43,445,991 (GRCm39)	Q308R	probably benign	Het
Tm7sf3	A	T	6: 146,511,471 (GRCm39)		probably null	Het
Tmbim6	T	C	15: 99,300,034 (GRCm39)	V50A	probably benign	Het
Tmem107	T	C	11: 68,961,837 (GRCm39)	V22A	probably damaging	Het
Ttc12	T	C	9: 49,364,646 (GRCm39)	I377V	probably benign	Het
Ufl1	T	A	4: 25,262,316 (GRCm39)	N310I	probably damaging	Het
Ush2a	C	A	1: 188,175,416 (GRCm39)	N1171K	possibly damaging	Het
Utrn	A	T	10: 12,574,831 (GRCm39)	V1032E	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
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'- TCCGAAACGTTGTTAGTGCTCAG -3'
(R):5'- AAGGCATCTGCTAAGGCGAG -3'

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

Posted On

2018-08-01