Mutagenetix > Incidental Mutation

Incidental Mutation 'R2857:Bpifa6'

252453

Institutional Source

Beutler Lab

Gene Symbol

Bpifa6

Ensembl Gene

ENSMUSG00000078998

Gene Name

BPI fold containing family A, member 6

Synonyms

Gm5840

MMRRC Submission

040447-MU

Accession Numbers

Genbank: NM_001080811; MGI: 3647736

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R2857 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

153974945-154000495 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 153989274 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 253 (M253I)

Ref Sequence

ENSEMBL: ENSMUSP00000105375 (fasta)

Gene Model

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

AlphaFold

Q0VGU8

Predicted Effect

probably benign
Transcript: ENSMUST00000109753
AA Change: M253I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105375
Gene: ENSMUSG00000078998
AA Change: M253I

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

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330087D11Rik	A	T	7: 29,573,878		noncoding transcript	Het
Amfr	A	T	8: 94,005,214	N11K	probably damaging	Het
C330018D20Rik	A	G	18: 56,962,459	L18P	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdh23	C	T	10: 60,382,653		probably null	Het
Ceacam1	T	A	7: 25,474,017	I249F	probably damaging	Het
Cfap54	C	T	10: 93,045,282	R348Q	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Cuzd1	C	T	7: 131,316,134	V246M	probably damaging	Het
Ehd2	A	T	7: 15,964,129	V61E	probably damaging	Het
Erich5	C	T	15: 34,471,414	T263I	probably damaging	Het
Fam71b	T	C	11: 46,405,212	I137T	probably damaging	Het
Fbxo36	A	G	1: 84,896,595	K104R	probably benign	Het
Fibin	C	T	2: 110,362,197	R200H	probably damaging	Het
Gad2	A	C	2: 22,673,975	M397L	probably benign	Het
Gm5724	A	G	6: 141,744,538	V163A	probably benign	Het
Iqgap3	C	A	3: 88,107,596	S873*	probably null	Het
Kcnh8	A	G	17: 52,977,933	D977G	probably benign	Het
Maats1	A	C	16: 38,302,713	L651R	probably damaging	Het
Mau2	T	C	8: 70,019,824	M570V	probably benign	Het
Mrgprb4	T	A	7: 48,198,336	R281S	possibly damaging	Het
Mthfd1	T	C	12: 76,288,925	Y258H	probably damaging	Het
Nexn	C	T	3: 152,248,043	E247K	probably damaging	Het
Olfr139	C	T	11: 74,044,827	G149D	possibly damaging	Het
Olfr311	T	A	11: 58,841,882	V256E	probably benign	Het
Olfr743	T	A	14: 50,533,440	N9K	probably benign	Het
Phrf1	T	A	7: 141,259,680		probably benign	Het
Prc1	A	G	7: 80,312,221	N52S	probably damaging	Het
Psd	G	C	19: 46,324,420	S170R	probably benign	Het
Riok1	T	C	13: 38,049,077	F229L	probably damaging	Het
Stat2	A	G	10: 128,276,901		probably null	Het
Sycp3	A	G	10: 88,467,372	E166G	probably damaging	Het
Szt2	G	A	4: 118,369,402	T510I	probably damaging	Het
Trank1	A	T	9: 111,366,933	T1342S	probably benign	Het
Trav3-1	C	A	14: 52,581,058	A63E	probably benign	Het
Trim34b	A	T	7: 104,336,232	N358I	probably benign	Het
Trmt11	G	C	10: 30,547,748	P387R	probably damaging	Het
Vmn2r82	T	A	10: 79,381,256	I474N	probably damaging	Het
Vrk2	C	A	11: 26,483,324	S286I	possibly damaging	Het
Wdfy3	A	T	5: 101,875,930	I2451N	probably benign	Het
Zfp326	G	A	5: 105,888,529	R102H	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
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
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

Predicted Primers

PCR Primer
(F):5'- AATGCCCAGACCTGTTTGC -3'
(R):5'- CTCCTTGAGACAGGAGCTTGAC -3'

Sequencing Primer
(F):5'- CTGTTTGCAAGTCCCAGTGAAAC -3'
(R):5'- CAGGGCATTAAAACACTAGTGGC -3'

Posted On

2014-12-04