Mutagenetix > Incidental Mutation

Incidental Mutation 'R4872:Bpifb9b'

376643

Institutional Source

Beutler Lab

Gene Symbol

Bpifb9b

Ensembl Gene

ENSMUSG00000067996

Gene Name

BPI fold containing family B, member 9B

Synonyms

OTTMUSG00000015915, 5430413K10Rik

MMRRC Submission

042482-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R4872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154307227-154320646 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154313631 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 350 (L350Q)

Ref Sequence

ENSEMBL: ENSMUSP00000086311 (fasta)

Gene Model

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

AlphaFold

A2AJD1

Predicted Effect

probably damaging
Transcript: ENSMUST00000088921
AA Change: L350Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000086311
Gene: ENSMUSG00000067996
AA Change: L350Q

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (81/83)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	C	A	15: 91,191,311	V100L	probably benign	Het
Acad11	G	A	9: 104,086,266		probably benign	Het
Actb	C	T	5: 142,905,552		probably benign	Het
Ano9	G	A	7: 141,107,204	A374V	probably damaging	Het
Baz2b	T	C	2: 59,942,759		probably null	Het
Cd27	T	A	6: 125,234,318		probably null	Het
Cd72	A	G	4: 43,449,563		probably benign	Het
Cdadc1	A	T	14: 59,564,524	S516T	probably benign	Het
Chst5	T	A	8: 111,890,560	I143F	possibly damaging	Het
Col20a1	T	C	2: 180,997,363	V452A	possibly damaging	Het
Cox11	C	A	11: 90,644,403	Q227K	probably benign	Het
Cpa6	A	G	1: 10,595,618		probably null	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dpm2	T	C	2: 32,571,191		probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Frem1	A	C	4: 82,963,150	N1273K	probably damaging	Het
Fry	T	C	5: 150,394,239		probably null	Het
Gm10306	G	T	4: 94,556,832		probably benign	Het
Gm5565	T	C	5: 146,158,103	T278A	probably benign	Het
Gm8180	A	G	14: 43,782,345	I40T	probably benign	Het
Iah1	T	C	12: 21,317,425	V44A	probably benign	Het
Iqgap3	C	T	3: 88,113,128	P360S	probably damaging	Het
Klhl28	T	A	12: 64,957,122	I206F	possibly damaging	Het
Krt13	A	G	11: 100,121,506		probably benign	Het
Lipo2	T	A	19: 33,749,514	D41V	probably benign	Het
Lrig2	C	G	3: 104,491,526	V229L	possibly damaging	Het
Lrrc32	C	T	7: 98,498,520	T169I	probably damaging	Het
Lrriq1	T	C	10: 103,178,788	N1053S	possibly damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Mgat4c	G	C	10: 102,388,738	R271P	probably damaging	Het
Mylk	A	G	16: 34,914,990	N780S	possibly damaging	Het
N4bp1	T	C	8: 86,861,048	T421A	probably benign	Het
Nat8f1	T	C	6: 85,910,313	T222A	probably benign	Het
Nsun2	T	C	13: 69,543,873		probably benign	Het
Oas2	T	A	5: 120,738,534	D448V	probably damaging	Het
Olfr129	C	A	17: 38,055,576	V6F	probably benign	Het
Olfr168	A	T	16: 19,530,633	C96S	probably damaging	Het
Olfr992	T	C	2: 85,400,428	Y35C	probably damaging	Het
Pgm2l1	T	A	7: 100,227,997	L25Q	probably damaging	Het
Pigp	A	T	16: 94,365,450	V133D	probably benign	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Pomt2	C	T	12: 87,110,107	D752N	possibly damaging	Het
Ppat	T	C	5: 76,926,793	K65E	probably damaging	Het
Ptprn2	T	C	12: 117,161,694	L616P	probably damaging	Het
Rad54l2	A	G	9: 106,717,892	S289P	probably damaging	Het
Rbm39	G	A	2: 156,177,346	R31C	possibly damaging	Het
Rhbdf2	C	A	11: 116,601,945	V417L	probably benign	Het
Rnf157	T	A	11: 116,355,472	E255D	possibly damaging	Het
Rpl6l	A	T	10: 111,126,443		noncoding transcript	Het
Sec24c	A	G	14: 20,693,745	D1006G	probably damaging	Het
Sh3bp1	G	T	15: 78,908,037	A401S	probably benign	Het
Slc17a8	A	T	10: 89,576,505	D539E	probably benign	Het
Slc38a9	T	A	13: 112,689,564	S136R	probably damaging	Het
Smoc2	A	C	17: 14,369,033	T255P	probably benign	Het
Smyd2	T	C	1: 189,896,650	D152G	probably damaging	Het
Stab1	A	G	14: 31,140,393	V2328A	probably damaging	Het
Taar2	A	G	10: 23,940,693	I44V	probably benign	Het
Tbc1d4	T	C	14: 101,444,708	K1251E	probably benign	Het
Thada	G	A	17: 84,446,599	L315F	probably damaging	Het
Trbv14	T	C	6: 41,135,325	S19P	probably benign	Het
Ttc39c	T	C	18: 12,687,116		probably benign	Het
Ttc39d	A	G	17: 80,217,098	I395M	probably benign	Het
Ttn	T	C	2: 76,718,384	E31891G	probably damaging	Het
Ubr3	T	C	2: 69,970,183	V950A	probably damaging	Het
Uhrf1bp1	G	T	17: 27,890,136	D1110Y	probably benign	Het
Usp9y	T	A	Y: 1,307,920	K2305N	probably damaging	Het
Vmn1r158	G	A	7: 22,790,754	T10I	possibly damaging	Het
Vmn2r78	T	A	7: 86,954,708	I698K	possibly damaging	Het
Vmn2r86	G	T	10: 130,453,591	T145K	probably damaging	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Zfp51	T	C	17: 21,464,671	V516A	probably benign	Het
Zfp654	A	T	16: 64,785,782	S686T	probably benign	Het
Zfp846	T	A	9: 20,590,815	C55S	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
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
R4950:Bpifb9b	UTSW	2	154311659	missense	probably damaging	1.00
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
R9134:Bpifb9b	UTSW	2	154309521	missense	probably benign
R9348:Bpifb9b	UTSW	2	154318846	missense	probably benign	0.28
R9528:Bpifb9b	UTSW	2	154311377	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CACTGTCTGAAGGATGAAGCC -3'
(R):5'- AGTCTCTCCCAACATCAGGC -3'

Sequencing Primer
(F):5'- ACCTCGAGATTAGGTATCCTATGC -3'
(R):5'- GCCACTTATAACCTGCAAGCGTTC -3'

Posted On

2016-03-17