Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02405:Bpifa6'

292029

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: 0.060) question?

Stock #

IGL02405

Quality Score

Status

Chromosome

Chromosomal Location

153974945-154000495 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 153990862 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 299 (L299*)

Ref Sequence

ENSEMBL: ENSMUSP00000105375 (fasta)

Gene Model

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

AlphaFold

Q0VGU8

Predicted Effect

probably null
Transcript: ENSMUST00000109753
AA Change: L299*

SMART Domains

Protein: ENSMUSP00000105375
Gene: ENSMUSG00000078998
AA Change: L299*

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	G	17: 24,279,062	S1434P	possibly damaging	Het
Abcc12	G	T	8: 86,558,153	Q278K	probably damaging	Het
Adk	A	G	14: 21,103,831	K48R	probably benign	Het
Atp8b3	C	T	10: 80,530,628	G267D	probably damaging	Het
Cblb	G	A	16: 52,166,253	A620T	probably benign	Het
Cep128	C	T	12: 91,266,986	R436H	probably benign	Het
Chd4	A	G	6: 125,097,227	D21G	probably benign	Het
Cnksr1	T	C	4: 134,236,281	D30G	possibly damaging	Het
Crybb2	A	G	5: 113,058,508	Y154H	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dhx57	A	T	17: 80,255,550		probably null	Het
Eri2	T	C	7: 119,785,482	R599G	probably damaging	Het
Fcrl1	A	C	3: 87,385,767	K244Q	probably damaging	Het
Gm11992	A	G	11: 9,059,939	N179S	probably benign	Het
Hgfac	A	G	5: 35,044,480	D319G	probably benign	Het
Irf5	G	A	6: 29,535,761	R258H	probably damaging	Het
Mecr	G	A	4: 131,862,992		probably null	Het
Obscn	T	G	11: 59,132,602	K650Q	probably damaging	Het
Olfr1450	A	G	19: 12,954,459	Y290C	probably damaging	Het
Pde4d	T	C	13: 108,860,209		probably null	Het
Ppp1r32	G	A	19: 10,474,566	T406I	probably damaging	Het
Serpinh1	A	G	7: 99,347,334	M217T	possibly damaging	Het
Setbp1	A	T	18: 78,857,299	M1051K	probably damaging	Het
Slc43a3	A	G	2: 84,938,241	E68G	probably damaging	Het
Supt5	T	C	7: 28,315,824	N969D	probably benign	Het
Taf2	A	T	15: 55,034,155		probably benign	Het
Tlr2	A	G	3: 83,836,674	F701L	probably damaging	Het
Trim46	T	C	3: 89,242,485	T222A	probably benign	Het
Tshz3	A	T	7: 36,769,650	N355Y	possibly damaging	Het
Vmn2r3	A	G	3: 64,271,199		probably benign	Het
Xkr9	A	T	1: 13,672,773		probably benign	Het
Zfhx3	C	T	8: 108,955,742	A3271V	unknown	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
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