Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02587:Bpifa6'

299576

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bpifa6

Ensembl Gene

ENSMUSG00000078998

Gene Name

BPI fold containing family A, member 6

Synonyms

Gm5840

Accession Numbers

Genbank: NM_001080811; MGI: 3647736

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL02587

Quality Score

Status

Chromosome

Chromosomal Location

153974945-154000495 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 153989210 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 232 (L232P)

Ref Sequence

ENSEMBL: ENSMUSP00000105375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109753]

Predicted Effect

probably damaging
Transcript: ENSMUST00000109753
AA Change: L232P

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

SMART Domains

Protein: ENSMUSP00000105375
Gene: ENSMUSG00000078998
AA Change: L232P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:LBP_BPI_CETP	176	319	1.4e-9	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot10	A	T	15: 20,665,797	V286E	possibly damaging	Het
Calr4	A	G	4: 109,238,937	N104S	possibly damaging	Het
Cdc42bpa	A	G	1: 180,093,945	E550G	possibly damaging	Het
D3Ertd751e	T	A	3: 41,753,852	N141K	probably benign	Het
Emilin2	A	G	17: 71,280,856		probably benign	Het
Eml6	T	C	11: 29,784,236	E1168G	possibly damaging	Het
Fbxo48	T	C	11: 16,953,659	I95T	probably benign	Het
Fpr3	A	T	17: 17,970,691	T75S	probably benign	Het
Gm13178	G	A	4: 144,703,399	T340I	possibly damaging	Het
Gm4788	G	A	1: 139,701,930	T712I	probably damaging	Het
Gm5145	A	G	17: 20,571,190	K277E	probably damaging	Het
Gnao1	A	G	8: 93,950,439		probably benign	Het
Krt8	G	A	15: 101,998,932	R239C	probably benign	Het
Lrrc17	A	T	5: 21,561,080	N187Y	probably damaging	Het
Neil1	C	T	9: 57,144,979	R195H	probably damaging	Het
Nr2f1	C	A	13: 78,195,156		probably benign	Het
Pi4ka	C	A	16: 17,317,353	G946W	probably damaging	Het
Plcg2	A	T	8: 117,558,113	N159I	possibly damaging	Het
Rad54l	A	G	4: 116,105,797	Y335H	probably damaging	Het
Rgsl1	C	T	1: 153,799,938	R159H	probably damaging	Het
Scn11a	T	C	9: 119,805,684	D357G	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Timeless	A	G	10: 128,239,916	M6V	probably damaging	Het
Vps16	T	C	2: 130,439,716		probably null	Het
Zfp955b	C	A	17: 33,300,650	Q31K	probably damaging	Het

Other mutations in Bpifa6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00910:Bpifa6	APN	2	153990466	missense	probably benign	0.00
IGL01805:Bpifa6	APN	2	153984912	missense	probably benign	0.03
IGL02246:Bpifa6	APN	2	153989276	missense	probably damaging	0.98
IGL02275:Bpifa6	APN	2	153992272	missense	probably benign	0.40
IGL02405:Bpifa6	APN	2	153990862	nonsense	probably null
IGL03365:Bpifa6	APN	2	153989284	missense	possibly damaging	0.71
F6893:Bpifa6	UTSW	2	153987158	missense	probably damaging	1.00
FR4976:Bpifa6	UTSW	2	153986376	missense	probably benign
FR4976:Bpifa6	UTSW	2	153986398	missense	probably benign
R0131:Bpifa6	UTSW	2	153982931	missense	probably benign	0.11
R0131:Bpifa6	UTSW	2	153982931	missense	probably benign	0.11
R0132:Bpifa6	UTSW	2	153982931	missense	probably benign	0.11
R0799:Bpifa6	UTSW	2	153992272	missense	probably benign	0.40
R1468:Bpifa6	UTSW	2	153989272	missense	probably benign	0.01
R1468:Bpifa6	UTSW	2	153989272	missense	probably benign	0.01
R1767:Bpifa6	UTSW	2	153987227	missense	possibly damaging	0.95
R2255:Bpifa6	UTSW	2	153990895	missense	probably damaging	0.98
R2857:Bpifa6	UTSW	2	153989274	missense	probably benign	0.03
R3430:Bpifa6	UTSW	2	153989251	missense	probably benign	0.00
R4616:Bpifa6	UTSW	2	153982988	missense	possibly damaging	0.47
R5420:Bpifa6	UTSW	2	153989330	missense	probably damaging	0.98
R6224:Bpifa6	UTSW	2	153987153	missense	probably damaging	0.99
R6483:Bpifa6	UTSW	2	153990434	missense	probably benign	0.13
R6552:Bpifa6	UTSW	2	153987158	missense	probably damaging	0.99
R7061:Bpifa6	UTSW	2	153992316	missense	probably benign	0.00
R7378:Bpifa6	UTSW	2	153986433	missense	probably damaging	0.99
R7472:Bpifa6	UTSW	2	153989329	missense	possibly damaging	0.93
R8313:Bpifa6	UTSW	2	153989258	nonsense	probably null

Posted On

2015-04-16