Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02275:Bpifa6'

287300

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

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL02275

Quality Score

Status

Chromosome

Chromosomal Location

153974945-154000495 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 153992272 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 328 (D328V)

Ref Sequence

ENSEMBL: ENSMUSP00000105375 (fasta)

Gene Model

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

AlphaFold

Q0VGU8

Predicted Effect

probably benign
Transcript: ENSMUST00000109753
AA Change: D328V

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105375
Gene: ENSMUSG00000078998
AA Change: D328V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	A	16: 3,906,282	D130V	probably damaging	Het
4930596D02Rik	T	C	14: 35,811,923	T9A	probably benign	Het
Anapc1	C	A	2: 128,659,852	A757S	probably benign	Het
Casc1	T	C	6: 145,177,364	Y592C	probably damaging	Het
Cdh19	T	A	1: 110,925,886	K275I	probably benign	Het
Col18a1	A	G	10: 77,059,383	I1148T	possibly damaging	Het
Commd1	A	T	11: 22,900,017	V222D	probably damaging	Het
Crim1	T	A	17: 78,369,998	M876K	possibly damaging	Het
Dennd1b	C	A	1: 139,081,254	H232N	probably damaging	Het
Dhx57	T	C	17: 80,274,839	T393A	probably benign	Het
Gabrb2	G	T	11: 42,591,894	R193L	probably benign	Het
Gm5828	T	A	1: 16,769,118		noncoding transcript	Het
Gm6483	C	T	8: 19,691,613	P55S	probably damaging	Het
Hsp90ab1	T	C	17: 45,568,438	Y619C	possibly damaging	Het
Kctd19	A	G	8: 105,396,374	I136T	probably damaging	Het
Olfr134	G	T	17: 38,175,686	V201L	probably benign	Het
Olfr1361	A	C	13: 21,659,000	F108V	probably benign	Het
Sel1l	T	C	12: 91,815,015	Y532C	probably damaging	Het
Sirpb1a	A	G	3: 15,410,409		probably null	Het
Ush2a	C	T	1: 188,263,269	T79M	possibly damaging	Het
Usp24	T	C	4: 106,387,493	V1215A	probably damaging	Het
Vdac3-ps1	T	C	13: 18,030,794		noncoding transcript	Het
Vmn2r75	T	C	7: 86,165,140	T382A	probably benign	Het
Vps53	T	C	11: 76,047,123	Y728C	probably benign	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
IGL02405:Bpifa6	APN	2	153990862	nonsense	probably null
IGL02587:Bpifa6	APN	2	153989210	missense	probably damaging	0.99
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
R9193:Bpifa6	UTSW	2	153984820	missense	probably benign	0.38
R9309:Bpifa6	UTSW	2	153992287	missense	probably benign	0.03
R9316:Bpifa6	UTSW	2	153986463	missense	possibly damaging	0.85

Posted On

2015-04-16