Mutagenetix > Incidental Mutations

Incidental Mutation 'R4950:Bpifb9b'

381900

Institutional Source

Beutler Lab

Gene Symbol

Bpifb9b

Ensembl Gene

ENSMUSG00000067996

Gene Name

BPI fold containing family B, member 9B

Synonyms

OTTMUSG00000015915, 5430413K10Rik

MMRRC Submission

042547-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R4950 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154307227-154320646 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 154311659 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 215 (D215V)

Ref Sequence

ENSEMBL: ENSMUSP00000086311 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088921]

Predicted Effect

probably damaging
Transcript: ENSMUST00000088921
AA Change: D215V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000086311
Gene: ENSMUSG00000067996
AA Change: D215V

Domain	Start	End	E-Value	Type
low complexity region	29	42	N/A	INTRINSIC
low complexity region	60	77	N/A	INTRINSIC
low complexity region	122	157	N/A	INTRINSIC
low complexity region	167	181	N/A	INTRINSIC
low complexity region	184	203	N/A	INTRINSIC
Pfam:LBP_BPI_CETP	216	377	1.7e-11	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.9%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1i	A	G	15: 80,368,671	E625G	probably damaging	Het
Cage1	C	T	13: 38,023,326	S181N	possibly damaging	Het
Ccdc36	A	C	9: 108,421,510	S36R	probably damaging	Het
Ccdc73	A	C	2: 104,992,366	I887L	probably benign	Het
Cfap65	T	A	1: 74,906,336	K1408*	probably null	Het
Cngb1	C	A	8: 95,248,507	G654W	probably damaging	Het
Cxcl15	A	T	5: 90,795,245	E35D	possibly damaging	Het
Ddi1	A	G	9: 6,266,073	S99P	probably benign	Het
Disp3	A	T	4: 148,258,126	D622E	possibly damaging	Het
Dnajc22	G	A	15: 99,101,734	V267I	probably benign	Het
Dph5	G	A	3: 115,928,643	G257S	probably benign	Het
Elmo2	A	T	2: 165,314,813		probably null	Het
Fam186a	T	C	15: 99,941,653	R2237G	unknown	Het
Fez1	G	A	9: 36,867,882	R285Q	probably damaging	Het
Fsip2	A	T	2: 82,946,932	H101L	probably damaging	Het
Fsip2	G	A	2: 82,977,414	C1359Y	probably benign	Het
Fxyd7	G	A	7: 31,047,390	T15I	probably benign	Het
Gpr155	A	T	2: 73,382,185	D31E	probably benign	Het
Irx6	A	T	8: 92,678,800	Y432F	probably damaging	Het
Itih5	A	C	2: 10,235,081	I340L	probably damaging	Het
Lao1	T	C	4: 118,965,375	L164S	probably damaging	Het
Mcoln3	T	C	3: 146,139,519	I490T	probably damaging	Het
Mef2b	T	C	8: 70,167,196	Y311H	probably damaging	Het
Mras	A	T	9: 99,394,484	L111Q	probably damaging	Het
Mrc1	A	G	2: 14,271,280	D475G	probably damaging	Het
Nrcam	T	C	12: 44,598,490	I1155T	probably damaging	Het
Ntrk1	A	G	3: 87,789,611		probably null	Het
Olfr58	G	A	9: 19,783,731	M199I	probably benign	Het
Olfr885	T	C	9: 38,062,001	I227T	probably damaging	Het
Parp9	A	T	16: 35,948,007	I186F	probably damaging	Het
Pcdhac2	T	A	18: 37,145,230	V421E	probably benign	Het
Pck1	T	A	2: 173,154,827	I178K	probably benign	Het
Pde6b	A	G	5: 108,430,703	K836E	probably benign	Het
Ptprd	T	A	4: 76,140,515		probably null	Het
Pwp2	A	G	10: 78,183,006	Y56H	probably benign	Het
Rarb	G	A	14: 16,432,085		probably benign	Het
Rpain	C	G	11: 70,970,921	H50Q	probably benign	Het
Rps9	CTGTTTG	CTG	7: 3,704,759		probably null	Het
Rubcn	A	T	16: 32,843,193	S358T	probably damaging	Het
Ryr2	G	A	13: 11,742,011	R1586C	probably damaging	Het
Slfn9	T	C	11: 82,981,904	I669V	probably benign	Het
Slx1b	T	C	7: 126,691,767		probably benign	Het
Spsb3	T	A	17: 24,887,511		probably benign	Het
Tbx15	A	G	3: 99,326,384	I288V	possibly damaging	Het
Tlr2	C	A	3: 83,837,332	E481D	probably damaging	Het
Trim17	A	T	11: 58,970,428	D253V	probably damaging	Het
Trim69	A	G	2: 122,178,746	D429G	probably damaging	Het
Vstm5	A	G	9: 15,257,794		probably null	Het
Vwa3b	A	G	1: 37,085,332	Q337R	probably benign	Het
Zfp113	T	C	5: 138,145,472	N172S	probably benign	Het
Zfp607a	T	A	7: 27,878,751	H415Q	probably damaging	Het
Zfp87	G	A	13: 67,517,899	T148I	probably benign	Het

Other mutations in Bpifb9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:Bpifb9b	APN	2	154316951	splice site	probably null
IGL02119:Bpifb9b	APN	2	154313624	missense	possibly damaging	0.84
IGL02658:Bpifb9b	APN	2	154311281	missense	probably benign	0.00
R0230:Bpifb9b	UTSW	2	154317075	missense	probably damaging	1.00
R0269:Bpifb9b	UTSW	2	154319625	missense	probably benign	0.00
R0617:Bpifb9b	UTSW	2	154319625	missense	probably benign	0.00
R1953:Bpifb9b	UTSW	2	154311314	missense	probably damaging	0.99
R2050:Bpifb9b	UTSW	2	154309604	missense	possibly damaging	0.93
R2160:Bpifb9b	UTSW	2	154319675	missense	possibly damaging	0.53
R2200:Bpifb9b	UTSW	2	154313654	missense	probably benign	0.00
R2354:Bpifb9b	UTSW	2	154311742	missense	probably benign
R4755:Bpifb9b	UTSW	2	154319694	missense	probably benign	0.01
R4872:Bpifb9b	UTSW	2	154313631	missense	probably damaging	0.99
R4914:Bpifb9b	UTSW	2	154314106	splice site	probably null
R4915:Bpifb9b	UTSW	2	154314106	splice site	probably null
R4917:Bpifb9b	UTSW	2	154314106	splice site	probably null
R4918:Bpifb9b	UTSW	2	154314106	splice site	probably null
R5438:Bpifb9b	UTSW	2	154309368	missense	possibly damaging	0.65
R5507:Bpifb9b	UTSW	2	154317027	missense	possibly damaging	0.91
R6255:Bpifb9b	UTSW	2	154309364	missense	probably damaging	0.98
R7130:Bpifb9b	UTSW	2	154311672	missense	probably damaging	0.98
R7161:Bpifb9b	UTSW	2	154313615	missense	possibly damaging	0.95
R7736:Bpifb9b	UTSW	2	154312105	missense	probably benign	0.00
R8536:Bpifb9b	UTSW	2	154316277	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAATGGGGATTCCTCAAAGC -3'
(R):5'- TGACTTTCCCTGGGATTGC -3'

Sequencing Primer
(F):5'- GATTCCTCAAAGCCCTCATCAGG -3'
(R):5'- ACTTTCCCTGGGATTGCTGTATG -3'

Posted On

2016-04-27