Mutagenetix > Incidental Mutation

Incidental Mutation 'R5420:Bpifa6'

427971

Institutional Source

Beutler Lab

Gene Symbol

Bpifa6

Ensembl Gene

ENSMUSG00000078998

Gene Name

BPI fold containing family A, member 6

Synonyms

Gm5840

MMRRC Submission

042988-MU

Accession Numbers

Genbank: NM_001080811; MGI: 3647736

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5420 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

153974945-154000495 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 153989330 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 272 (I272N)

Ref Sequence

ENSEMBL: ENSMUSP00000105375 (fasta)

Gene Model

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

AlphaFold

Q0VGU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000109753
AA Change: I272N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105375
Gene: ENSMUSG00000078998
AA Change: I272N

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	TGCGCAGC	T	19: 4,865,344		probably null	Het
Adamts1	A	T	16: 85,799,609	C117*	probably null	Het
Adgrg6	A	T	10: 14,426,986	Y894*	probably null	Het
Akap2	G	A	4: 57,856,062	V505I	probably benign	Het
Akap2	T	A	4: 57,856,434	Y588N	probably damaging	Het
Alas1	G	T	9: 106,234,159	L603I	probably benign	Het
Arhgap21	G	T	2: 20,881,086	R427S	probably damaging	Het
Arhgef25	A	T	10: 127,187,274	V88D	probably benign	Het
BC005561	T	A	5: 104,518,359	I249N	probably damaging	Het
Bdp1	T	C	13: 100,066,043	Q691R	possibly damaging	Het
Cacybp	T	C	1: 160,208,344		probably benign	Het
Capn3	T	C	2: 120,495,296		probably benign	Het
Ccdc47	C	T	11: 106,210,350	R162Q	probably benign	Het
Cideb	A	C	14: 55,758,291	M1R	probably null	Het
Clec16a	G	A	16: 10,731,679	C872Y	probably damaging	Het
Crebbp	C	T	16: 4,107,458	R760H	probably damaging	Het
Cyp2c23	A	C	19: 44,015,664		probably null	Het
Cyp3a13	T	G	5: 137,898,981	D357A	probably damaging	Het
Dip2b	C	T	15: 100,205,173		probably benign	Het
Ecm2	A	T	13: 49,527,734	R448S	possibly damaging	Het
Edil3	T	C	13: 89,131,772	Y190H	probably damaging	Het
Eps8l1	T	G	7: 4,470,161		probably null	Het
Eps8l3	A	T	3: 107,883,985	K280*	probably null	Het
Fam184a	A	G	10: 53,633,657	F1137L	probably damaging	Het
Fmn2	A	T	1: 174,698,778	R1388*	probably null	Het
Glt8d2	T	C	10: 82,652,682	K318R	probably benign	Het
Herc2	A	T	7: 56,203,830	K3690I	probably damaging	Het
Ifi206	T	A	1: 173,481,033	I466F	possibly damaging	Het
Jade2	T	C	11: 51,818,607	K525R	probably benign	Het
Kmt2a	A	T	9: 44,848,336	F772I	probably damaging	Het
Lipi	A	G	16: 75,555,869	V360A	possibly damaging	Het
Mbl1	C	T	14: 41,157,196	S108L	possibly damaging	Het
Mmp1b	T	C	9: 7,384,897	I251V	possibly damaging	Het
Mrpl23	A	G	7: 142,536,137	T25A	probably damaging	Het
Mto1	T	A	9: 78,452,827	M199K	probably benign	Het
Nes	A	T	3: 87,977,002	N812I	probably damaging	Het
Nfkbie	T	A	17: 45,560,206	D261E	probably benign	Het
Olfr866	T	C	9: 20,027,059	Y293C	probably damaging	Het
Papola	A	G	12: 105,806,495	I114V	possibly damaging	Het
Pappa	T	G	4: 65,335,780		probably null	Het
Pcdh7	T	A	5: 57,720,187	D361E	probably damaging	Het
Pick1	A	G	15: 79,248,840	T367A	probably benign	Het
Plbd2	A	G	5: 120,494,482	Y152H	probably damaging	Het
Ppfia2	A	T	10: 106,835,701	E424D	possibly damaging	Het
Rab7b	C	T	1: 131,698,426	T64I	probably damaging	Het
Rarb	T	A	14: 16,434,249	I310F	possibly damaging	Het
Rdh16f2	C	T	10: 127,877,074	P314S	possibly damaging	Het
Rpain	A	T	11: 70,977,690		probably null	Het
Rufy3	T	C	5: 88,640,659	*488Q	probably null	Het
Sash1	G	A	10: 8,746,186	T398I	probably damaging	Het
Scara5	CG	C	14: 65,759,662		probably null	Het
Scrn1	T	A	6: 54,512,063	I358F	probably benign	Het
Stam2	G	A	2: 52,736,293		probably benign	Het
Thbs1	G	T	2: 118,113,155	D85Y	possibly damaging	Het
Trp53	T	C	11: 69,588,320		probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vmn1r223	A	G	13: 23,249,505	R90G	probably benign	Het
Zfp521	A	T	18: 13,844,087	Y1090N	probably damaging	Het
Zfp677	T	C	17: 21,397,913	C411R	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
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
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'- AAATGCCCAGACCTGTTTGC -3'
(R):5'- CCTTGAGACAGGAGCTTGAC -3'

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

Posted On

2016-09-01