Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02246:Bpifa6'

286180

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: 0.069) question?

Stock #

IGL02246

Quality Score

Status

Chromosome

Chromosomal Location

153974945-154000495 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 153989276 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 254 (E254V)

Ref Sequence

ENSEMBL: ENSMUSP00000105375 (fasta)

Gene Model

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

AlphaFold

Q0VGU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000109753
AA Change: E254V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105375
Gene: ENSMUSG00000078998
AA Change: E254V

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	G	T	4: 123,860,862	D190Y	probably damaging	Het
Acat1	G	A	9: 53,584,866	L324F	probably benign	Het
Ago2	T	C	15: 73,108,418	H743R	probably damaging	Het
Ahnak	A	T	19: 9,008,268	L2305F	probably damaging	Het
Ankhd1	T	A	18: 36,656,726	H2438Q	probably damaging	Het
Atm	G	T	9: 53,527,185	Q162K	probably benign	Het
Carns1	T	A	19: 4,166,432	N584Y	possibly damaging	Het
Cmklr1	T	C	5: 113,614,400	N180S	probably benign	Het
Col6a5	G	A	9: 105,911,107	R1565*	probably null	Het
Fbxo43	T	A	15: 36,162,696	I122L	probably benign	Het
Fibp	A	G	19: 5,463,236	Y193C	probably damaging	Het
Gm10923	A	G	15: 85,116,931		probably benign	Het
Il12rb2	A	G	6: 67,308,956		probably null	Het
Jakmip2	T	C	18: 43,567,158	E445G	possibly damaging	Het
Krcc1	G	A	6: 71,284,421	D146N	probably benign	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Map2k5	A	T	9: 63,377,129	D43E	probably benign	Het
Nup155	A	G	15: 8,143,002	K824R	probably benign	Het
Olfr1394	T	C	11: 49,160,094	S27P	probably benign	Het
Olfr577	T	C	7: 102,973,744	T83A	possibly damaging	Het
Phkg1	G	A	5: 129,864,638	R324W	probably damaging	Het
Plcd1	G	A	9: 119,072,609	L616F	probably benign	Het
Rnf141	A	T	7: 110,825,287	S122T	probably benign	Het
Tap1	G	A	17: 34,193,989	V593M	probably benign	Het
Ticrr	T	C	7: 79,675,328	L534P	probably damaging	Het
Ubr4	G	T	4: 139,459,103	E640D	possibly damaging	Het
Vmn1r169	A	C	7: 23,577,236	I18L	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
IGL02275:Bpifa6	APN	2	153992272	missense	probably benign	0.40
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