Mutagenetix > Incidental Mutations

Incidental Mutation 'R2679:Bpifb4'

250704

Institutional Source

Beutler Lab

Gene Symbol

Bpifb4

Ensembl Gene

ENSMUSG00000074665

Gene Name

BPI fold containing family B, member 4

Synonyms

LOC381399, Gm1006

MMRRC Submission

040432-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R2679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153938212-153964101 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 153948624 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 145 (I145T)

Ref Sequence

ENSEMBL: ENSMUSP00000096786 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099181
AA Change: I145T

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000096786
Gene: ENSMUSG00000074665
AA Change: I145T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109757
AA Change: I359T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105379
Gene: ENSMUSG00000074665
AA Change: I359T

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

possibly damaging
Transcript: ENSMUST00000109759
AA Change: I359T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105381
Gene: ENSMUSG00000074665
AA Change: I359T

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

Meta Mutation Damage Score

0.2137

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (67/69)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asic2	A	G	11: 81,151,954	V171A	probably benign	Het
Atf7ip	A	T	6: 136,566,651	I641L	possibly damaging	Het
Atrn	G	A	2: 130,961,675		probably null	Het
Bub3	A	G	7: 131,568,725		probably null	Het
Catsperb	T	A	12: 101,463,145	D192E	probably damaging	Het
Ccdc178	G	A	18: 21,811,556	H849Y	possibly damaging	Het
Cd101	G	T	3: 100,993,763	Q998K	probably benign	Het
Cep135	A	T	5: 76,624,660	M631L	probably benign	Het
Cit	T	C	5: 115,969,115	V1102A	probably benign	Het
Col4a4	G	A	1: 82,529,611	T249M	unknown	Het
Cpne6	A	T	14: 55,516,329	I415F	possibly damaging	Het
Cyp4b1	T	C	4: 115,628,697	I348V	probably benign	Het
Defb28	T	C	2: 152,518,282	S6P	possibly damaging	Het
Dhrs7b	A	G	11: 60,852,518		probably benign	Het
Dhx29	T	C	13: 112,947,376		probably null	Het
Egfem1	A	G	3: 29,670,676	T476A	probably benign	Het
Enpp5	A	G	17: 44,085,388	D397G	probably damaging	Het
Eogt	G	A	6: 97,120,800	T279I	probably benign	Het
Fnip2	G	A	3: 79,480,926	H833Y	probably benign	Het
Gabrr2	A	T	4: 33,071,435	T92S	probably damaging	Het
Gm10110	T	A	14: 89,897,416		noncoding transcript	Het
Gm4778	A	T	3: 94,265,910	Y75F	probably damaging	Het
Gria2	A	G	3: 80,740,953		probably benign	Het
Hmcn1	G	T	1: 150,652,575	T3274N	possibly damaging	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Hspa1b	T	C	17: 34,957,303	K569E	probably benign	Het
Ighv1-82	T	C	12: 115,952,752	Y46C	probably damaging	Het
Itga3	A	T	11: 95,068,310		probably benign	Het
Lrrc7	T	A	3: 158,175,108	R552*	probably null	Het
Med13	A	G	11: 86,298,577	S1169P	probably benign	Het
Muc4	T	A	16: 32,757,472	D2374E	unknown	Het
Myl9	T	A	2: 156,780,506	L70Q	probably damaging	Het
Nebl	C	T	2: 17,424,591	S243N	probably benign	Het
Nfat5	A	G	8: 107,344,914	Y314C	probably damaging	Het
Nr2f6	T	A	8: 71,374,736	D307V	probably damaging	Het
Nrp2	T	C	1: 62,785,078	S781P	probably benign	Het
Nub1	C	T	5: 24,692,925	T103I	possibly damaging	Het
Olfr32	A	T	2: 90,138,545	V198D	possibly damaging	Het
Olfr572	T	A	7: 102,928,031	Y134*	probably null	Het
Pex5l	A	T	3: 33,082,052	M6K	probably benign	Het
Pgm3	A	C	9: 86,569,321	C93W	probably benign	Het
Pkhd1	A	G	1: 20,209,182	S2971P	probably benign	Het
Pkhd1l1	T	C	15: 44,545,386	L2423P	probably damaging	Het
Prkce	A	G	17: 86,176,226		probably benign	Het
Ptbp3	A	G	4: 59,494,615		probably benign	Het
Ptgis	T	A	2: 167,208,193	M339L	probably benign	Het
Pxdn	T	C	12: 29,975,569		probably benign	Het
Rab44	T	A	17: 29,144,477		probably null	Het
Ric1	A	G	19: 29,604,030	S1275G	probably benign	Het
Rnf213	C	A	11: 119,459,938		probably null	Het
Rtn4rl1	A	T	11: 75,265,726	E328V	probably benign	Het
Saraf	C	T	8: 34,165,274	T169I	probably damaging	Het
Sbk2	T	A	7: 4,957,120		probably null	Het
Setd1a	T	G	7: 127,795,724		probably benign	Het
Sit1	A	G	4: 43,483,157	Y73H	probably damaging	Het
Slc44a4	T	C	17: 34,923,423		probably benign	Het
Tas2r125	A	G	6: 132,910,227	T193A	probably benign	Het
Tbc1d9b	T	A	11: 50,161,701		probably null	Het
Tcf7l1	G	T	6: 72,627,420	H580Q	probably benign	Het
Tead1	T	G	7: 112,856,846	S115A	probably damaging	Het
Top2b	G	A	14: 16,413,947	G29D	probably damaging	Het
Trpv4	A	T	5: 114,635,552	C250S	probably damaging	Het
U2surp	A	C	9: 95,476,232	I655S	possibly damaging	Het
Ube2a	G	A	X: 36,874,707		probably benign	Het
Ubl7	A	G	9: 57,914,599	D77G	probably damaging	Het
Vmn1r91	T	C	7: 20,102,058	C301R	probably damaging	Het
Vmn2r90	A	T	17: 17,712,869	R230S	possibly damaging	Het
Wdfy3	T	A	5: 101,870,036	E2560V	probably damaging	Het
Zfp273	C	T	13: 67,825,776	A341V	probably benign	Het
Zfp512	C	T	5: 31,465,454	A33V	probably benign	Het

Other mutations in Bpifb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01567:Bpifb4	APN	2	153947278	splice site	probably benign
IGL01641:Bpifb4	APN	2	153942681	missense	possibly damaging	0.96
IGL01653:Bpifb4	APN	2	153944783	missense	probably damaging	1.00
IGL02745:Bpifb4	APN	2	153947221	missense	probably damaging	1.00
R0106:Bpifb4	UTSW	2	153940968	missense	probably benign	0.02
R0309:Bpifb4	UTSW	2	153959683	missense	probably damaging	0.97
R0561:Bpifb4	UTSW	2	153944822	missense	probably damaging	1.00
R0601:Bpifb4	UTSW	2	153947283	splice site	probably benign
R1937:Bpifb4	UTSW	2	153944076	missense	probably damaging	0.98
R2433:Bpifb4	UTSW	2	153959677	missense	probably damaging	0.98
R2896:Bpifb4	UTSW	2	153954437	splice site	probably benign
R4701:Bpifb4	UTSW	2	153950385	missense	probably damaging	1.00
R4772:Bpifb4	UTSW	2	153942983	missense	possibly damaging	0.93
R5403:Bpifb4	UTSW	2	153943992	missense	probably damaging	0.99
R5695:Bpifb4	UTSW	2	153942923	missense	probably damaging	0.99
R5894:Bpifb4	UTSW	2	153940932	missense	possibly damaging	0.49
R6007:Bpifb4	UTSW	2	153942560	missense	possibly damaging	0.49
R6302:Bpifb4	UTSW	2	153959667	missense	probably benign	0.00
R6351:Bpifb4	UTSW	2	153957134	missense	probably damaging	0.96
R6755:Bpifb4	UTSW	2	153957738	missense	probably damaging	0.98
R6796:Bpifb4	UTSW	2	153961547	missense	probably damaging	1.00
R6932:Bpifb4	UTSW	2	153942627	missense	possibly damaging	0.49
R7489:Bpifb4	UTSW	2	153944004	missense	probably damaging	1.00
R7986:Bpifb4	UTSW	2	153957730	missense	probably benign	0.00
RF061:Bpifb4	UTSW	2	153957128	critical splice acceptor site	probably benign
X0018:Bpifb4	UTSW	2	153944061	missense	probably damaging	1.00
Z1176:Bpifb4	UTSW	2	153942832	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- ACTGAGGGCACACTGTACAG -3'
(R):5'- TGTGTGAGCATGCTTCCCAG -3'

Sequencing Primer
(F):5'- GGGCACACTGTACAGCCTTAAATG -3'
(R):5'- CCTAGAAGGTCTCTAATCCATGATGG -3'

Posted On

2014-12-04