Mutagenetix > Incidental Mutation

Incidental Mutation 'R8536:Bpifb9b'

659228

Institutional Source

Beutler Lab

Gene Symbol

Bpifb9b

Ensembl Gene

ENSMUSG00000067996

Gene Name

BPI fold containing family B, member 9B

Synonyms

OTTMUSG00000015915, 5430413K10Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8536 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

154307227-154320646 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154316277 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 440 (I440V)

Ref Sequence

ENSEMBL: ENSMUSP00000086311 (fasta)

Gene Model

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

AlphaFold

A2AJD1

Predicted Effect

probably benign
Transcript: ENSMUST00000088921
AA Change: I440V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000086311
Gene: ENSMUSG00000067996
AA Change: I440V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,426,217	V217M	probably benign	Het
Abca4	A	G	3: 122,179,745	Q1074R	probably benign	Het
Ablim1	T	C	19: 57,182,286		probably benign	Het
Acox2	A	T	14: 8,256,081	D79E	probably benign	Het
Ccdc7a	T	A	8: 128,790,120	T118S	possibly damaging	Het
Cntln	T	C	4: 84,957,049	I240T	probably damaging	Het
Col15a1	T	C	4: 47,208,536		probably null	Het
Cox18	A	G	5: 90,215,018	F326S	probably damaging	Het
Dnm1l	C	A	16: 16,358,775	V31L	probably benign	Het
Dst	C	A	1: 34,197,246	L3578M	possibly damaging	Het
Fbxw24	G	A	9: 109,623,531	T132I	probably damaging	Het
Fchsd1	A	G	18: 37,967,770	V120A	probably benign	Het
Fibcd1	T	C	2: 31,816,631	E396G	probably damaging	Het
Fryl	G	T	5: 73,100,353	T702K	probably damaging	Het
Gatb	A	T	3: 85,604,561	I208F	probably damaging	Het
Gm9733	A	G	3: 15,296,554	*179R	probably null	Het
Gzmd	T	C	14: 56,129,701	I245V	probably damaging	Het
Lats2	G	A	14: 57,703,038	A119V	probably damaging	Het
Lztfl1	A	T	9: 123,711,054	F129L	probably benign	Het
Mmp2	A	T	8: 92,830,625	Y53F	probably damaging	Het
Mttp	G	A	3: 138,104,943	R637C	probably damaging	Het
Ndufa8	A	C	2: 36,049,300		probably benign	Het
Nek11	A	T	9: 105,298,339	M302K	probably benign	Het
Nek6	A	G	2: 38,514,785		probably null	Het
Numa1	C	T	7: 102,001,580	A1506V	probably damaging	Het
Plxdc1	A	T	11: 97,978,696		probably null	Het
Poteg	C	A	8: 27,448,020	T6K	probably benign	Het
Rbm26	A	T	14: 105,142,838	N514K	possibly damaging	Het
Rnf145	T	C	11: 44,560,115	L422P	probably damaging	Het
Scn5a	G	T	9: 119,539,745	T238K	probably damaging	Het
Shd	G	A	17: 55,976,315	A315T	probably damaging	Het
Slco5a1	T	G	1: 12,881,301	T593P	possibly damaging	Het
Stard9	G	A	2: 120,714,659	R4560H	possibly damaging	Het
Tldc1	T	C	8: 119,764,048	N320S	probably benign	Het
Traf3ip3	C	T	1: 193,194,515		probably null	Het
Trpm1	G	C	7: 64,247,407	K252N	probably damaging	Het
Ttc7b	A	T	12: 100,373,544	I584K	possibly damaging	Het
Vmn1r218	T	C	13: 23,137,365	V214A	probably benign	Het
Wdfy3	G	T	5: 101,885,198	H2215Q	probably benign	Het
Wls	G	A	3: 159,873,111	M103I	probably damaging	Het
Zmat4	T	C	8: 23,748,507		probably null	Het
Zmynd15	G	T	11: 70,462,561	C334F	probably damaging	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
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
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'- AGACTAAGGCCTCTTCACCC -3'
(R):5'- CCCAGTCTGATCATGAAGTTTAATG -3'

Sequencing Primer
(F):5'- ACCCTGCACATGGCCTTAG -3'
(R):5'- AATGTATGTCCTGTTTCATCGATC -3'

Posted On

2021-01-18