Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03118:Bpifb5'

409893

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bpifb5

Ensembl Gene

ENSMUSG00000038572

Gene Name

BPI fold containing family B, member 5

Synonyms

BC018465

Accession Numbers

Genbank: NM_144890; MGI: 2385160

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03118

Quality Score

Status

Chromosome

Chromosomal Location

154223742-154240902 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 154236753 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046683 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045959]

AlphaFold

Q3UQ05

Predicted Effect

probably benign
Transcript: ENSMUST00000045959

SMART Domains

Protein: ENSMUSP00000046683
Gene: ENSMUSG00000038572

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
coiled coil region	26	54	N/A	INTRINSIC
Pfam:LBP_BPI_CETP	94	231	7.6e-14	PFAM
Blast:BPI2	291	488	4e-91	BLAST
SCOP:d1ewfa2	433	486	8e-3	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,400,450	G921S	probably benign	Het
Abca8b	T	C	11: 109,947,181	T1082A	possibly damaging	Het
AF366264	C	T	8: 13,838,096		probably benign	Het
B9d2	T	C	7: 25,681,476		probably null	Het
Bfsp1	T	C	2: 143,827,333	E442G	possibly damaging	Het
Ccl1	A	G	11: 82,178,070	I47T	probably damaging	Het
Cln3	T	C	7: 126,575,397	I285V	probably null	Het
Cyp4a12b	G	T	4: 115,432,976	R242I	possibly damaging	Het
Dcc	T	C	18: 71,420,273	T771A	probably benign	Het
Erbb4	T	C	1: 68,042,719	D1052G	probably benign	Het
Fcnb	T	C	2: 28,076,618	N301S	probably benign	Het
Gm28043	A	C	17: 29,634,731	E403A	probably damaging	Het
Gria4	A	G	9: 4,793,804		probably benign	Het
Ighv5-12	T	A	12: 113,702,578	M1L	probably benign	Het
Il17rd	A	G	14: 27,093,395		probably null	Het
Kcnn3	T	A	3: 89,667,161	L660Q	probably damaging	Het
Lcor	C	T	19: 41,558,369	P131S	probably damaging	Het
Leng1	T	C	7: 3,665,410	N13S	probably damaging	Het
Loxhd1	T	C	18: 77,380,464	V827A	probably damaging	Het
Mapk13	A	G	17: 28,777,735	Y208C	probably benign	Het
Mybpc3	T	C	2: 91,124,503	V453A	probably damaging	Het
Odam	T	C	5: 87,885,754	S15P	unknown	Het
Olfr26	A	T	9: 38,855,230	H56L	probably damaging	Het
Olfr323	A	T	11: 58,625,443	V201D	probably damaging	Het
Pcdhb19	T	C	18: 37,499,565		probably benign	Het
Per2	G	T	1: 91,444,619	Y244*	probably null	Het
Pik3ca	A	T	3: 32,459,935	I857F	probably damaging	Het
Pold1	T	A	7: 44,539,400	I447F	probably benign	Het
Ppm1f	T	A	16: 16,914,078	W131R	probably null	Het
Ppp2r2c	A	G	5: 36,926,316	Y67C	probably damaging	Het
Psmb10	A	T	8: 105,936,900	H155Q	probably damaging	Het
Ptbp3	G	A	4: 59,501,470	A149V	probably benign	Het
Pygb	T	A	2: 150,820,811	V566E	probably benign	Het
Rictor	G	A	15: 6,759,518	R205Q	possibly damaging	Het
Ryr1	T	A	7: 29,015,786	R4638W	unknown	Het
Sept3	G	A	15: 82,284,514		probably null	Het
Serpina3b	A	T	12: 104,131,054	D198V	probably benign	Het
Slc27a6	C	A	18: 58,556,743	H94N	probably benign	Het
Taf2	C	T	15: 55,052,163	V456M	probably damaging	Het
Tbpl2	T	C	2: 24,087,289	E238G	probably benign	Het
Ttn	C	T	2: 76,754,207	V20440I	possibly damaging	Het
Zfp638	T	A	6: 83,935,018		probably benign	Het
Zfp865	T	C	7: 5,034,645		probably benign	Het

Other mutations in Bpifb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01543:Bpifb5	APN	2	154233249	missense	possibly damaging	0.86
IGL01676:Bpifb5	APN	2	154229049	missense	possibly damaging	0.71
IGL02065:Bpifb5	APN	2	154227183	missense	probably damaging	0.98
IGL02141:Bpifb5	APN	2	154229557	splice site	probably null
IGL02244:Bpifb5	APN	2	154225148	missense	possibly damaging	0.93
A4554:Bpifb5	UTSW	2	154227180	missense	possibly damaging	0.71
R0022:Bpifb5	UTSW	2	154230348	missense	probably damaging	0.98
R0492:Bpifb5	UTSW	2	154228900	missense	probably benign	0.11
R0654:Bpifb5	UTSW	2	154228900	missense	probably benign	0.11
R0692:Bpifb5	UTSW	2	154234696	missense	probably benign	0.33
R0707:Bpifb5	UTSW	2	154228900	missense	probably benign	0.11
R0898:Bpifb5	UTSW	2	154233334	missense	probably benign
R1534:Bpifb5	UTSW	2	154229499	missense	possibly damaging	0.86
R1539:Bpifb5	UTSW	2	154223856	missense	probably benign
R1874:Bpifb5	UTSW	2	154227202	splice site	probably benign
R1971:Bpifb5	UTSW	2	154230344	missense	probably benign	0.18
R2001:Bpifb5	UTSW	2	154233279	missense	possibly damaging	0.53
R3013:Bpifb5	UTSW	2	154228855	missense	possibly damaging	0.59
R3916:Bpifb5	UTSW	2	154228181	missense	probably benign
R4499:Bpifb5	UTSW	2	154240758	missense	possibly damaging	0.53
R5250:Bpifb5	UTSW	2	154224961	missense	probably benign
R6301:Bpifb5	UTSW	2	154230219	missense	possibly damaging	0.73
R6836:Bpifb5	UTSW	2	154228065	missense	probably benign	0.02
R6869:Bpifb5	UTSW	2	154233223	missense	probably benign	0.33
R7014:Bpifb5	UTSW	2	154224956	nonsense	probably null
R7300:Bpifb5	UTSW	2	154228146	missense	possibly damaging	0.85
R7427:Bpifb5	UTSW	2	154225122	missense	probably benign
R7428:Bpifb5	UTSW	2	154225122	missense	probably benign
R7439:Bpifb5	UTSW	2	154228933	missense	possibly damaging	0.71
R7448:Bpifb5	UTSW	2	154230185	missense	possibly damaging	0.53
R7935:Bpifb5	UTSW	2	154229055	missense	probably benign	0.01
R8964:Bpifb5	UTSW	2	154230278	missense	possibly damaging	0.96
R9049:Bpifb5	UTSW	2	154228176	missense	probably benign	0.00
R9058:Bpifb5	UTSW	2	154238897	missense	possibly damaging	0.85
R9349:Bpifb5	UTSW	2	154225085	missense	possibly damaging	0.96
T0975:Bpifb5	UTSW	2	154229464	splice site	probably null

Posted On

2016-08-02