Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02119:Bpifb9b'

280512

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bpifb9b

Ensembl Gene

ENSMUSG00000067996

Gene Name

BPI fold containing family B, member 9B

Synonyms

OTTMUSG00000015915, 5430413K10Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

IGL02119

Quality Score

Status

Chromosome

Chromosomal Location

154307227-154320646 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 154313624 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 348 (V348L)

Ref Sequence

ENSEMBL: ENSMUSP00000086311 (fasta)

Gene Model

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

AlphaFold

A2AJD1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088921
AA Change: V348L

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000086311
Gene: ENSMUSG00000067996
AA Change: V348L

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,328,000		probably null	Het
Acsbg2	T	C	17: 56,868,459		probably benign	Het
Ap3b1	T	C	13: 94,462,403	V495A	probably benign	Het
Astn1	T	C	1: 158,511,154		probably benign	Het
Bora	A	G	14: 99,053,538	D94G	probably damaging	Het
Cd160	A	T	3: 96,808,823	I17N	possibly damaging	Het
Cyp2d11	A	C	15: 82,390,064	I372S	probably damaging	Het
Dennd2c	T	A	3: 103,137,243	V380D	probably damaging	Het
Fat4	C	T	3: 38,982,939	A3580V	probably benign	Het
Filip1	A	G	9: 79,818,266	S1024P	probably benign	Het
Flnc	G	A	6: 29,447,512	E1105K	probably damaging	Het
Gbp4	T	A	5: 105,121,042	E415V	probably benign	Het
Gdap1l1	T	A	2: 163,453,668	F224Y	probably damaging	Het
Gm11146	A	T	16: 77,588,610		probably null	Het
Gsn	G	T	2: 35,302,495	R485L	probably damaging	Het
Havcr1	A	G	11: 46,775,493	Y261C	probably damaging	Het
Maneal	A	T	4: 124,859,167	I229N	probably benign	Het
Med24	A	T	11: 98,728,835	M27K	probably benign	Het
Nipsnap2	T	A	5: 129,747,992		probably benign	Het
Noa1	T	A	5: 77,307,579	Q430L	probably benign	Het
Olfr1099	T	C	2: 86,959,183	I92V	probably benign	Het
Olfr365	C	A	2: 37,201,269	S9R	possibly damaging	Het
Olfr74	T	A	2: 87,974,410	N85I	probably benign	Het
Olfr834	T	C	9: 18,988,612	V208A	probably benign	Het
Pde3a	T	A	6: 141,459,803	S460R	probably damaging	Het
Pdzd8	T	C	19: 59,300,490	Q826R	possibly damaging	Het
Pfkfb4	C	T	9: 109,025,110	R351W	probably damaging	Het
Pikfyve	T	A	1: 65,272,571	I1989N	probably damaging	Het
Poldip2	T	A	11: 78,517,908	F200I	probably damaging	Het
Prodh2	T	C	7: 30,506,504	V208A	probably damaging	Het
Ranbp10	T	C	8: 105,827,003	D89G	probably damaging	Het
Rbm33	T	A	5: 28,339,017	S90R	probably damaging	Het
Slc44a4	A	C	17: 34,928,661	D441A	probably damaging	Het
Slc4a10	A	T	2: 62,228,670	I174F	probably damaging	Het
Smim17	T	C	7: 6,427,161		probably benign	Het
Tln1	T	C	4: 43,546,760	E872G	probably damaging	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Top2b	T	C	14: 16,406,733	L625S	probably damaging	Het
Vmn2r59	A	G	7: 42,046,169	V273A	probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Whrn	T	G	4: 63,435,487	K348Q	probably damaging	Het
Zc3h14	T	C	12: 98,763,895	V399A	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
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
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

Posted On

2015-04-16