Mutagenetix > Incidental Mutation

Incidental Mutation 'R1767:Bpifa6'

194445

Institutional Source

Beutler Lab

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 #

R1767 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

153974945-154000495 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153987227 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 225 (T225A)

Ref Sequence

ENSEMBL: ENSMUSP00000105375 (fasta)

Gene Model

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

AlphaFold

Q0VGU8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109753
AA Change: T225A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105375
Gene: ENSMUSG00000078998
AA Change: T225A

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: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	T	C	4: 124,849,961	N128S	possibly damaging	Het
1700011H14Rik	G	A	14: 49,235,884	T128I	probably benign	Het
Adam26b	T	A	8: 43,519,911	I685F	probably benign	Het
Adgrf5	A	T	17: 43,450,564	Y1050F	possibly damaging	Het
Alcam	A	T	16: 52,270,714	N480K	probably damaging	Het
Alk	T	A	17: 71,900,698	H1014L	possibly damaging	Het
Arhgef2	A	G	3: 88,643,953	Q778R	probably damaging	Het
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Ascc3	T	A	10: 50,718,376	I1189N	probably damaging	Het
AU040320	G	A	4: 126,840,724	G713D	probably damaging	Het
Bmpr1a	A	G	14: 34,447,770		probably null	Het
Cacna1g	T	C	11: 94,459,802	S406G	probably benign	Het
Ccdc40	T	A	11: 119,230,696		probably null	Het
Cckbr	A	T	7: 105,434,551	I229F	possibly damaging	Het
Cers3	A	G	7: 66,783,403	K156R	probably damaging	Het
Chd1	T	A	17: 15,770,303	W1706R	probably damaging	Het
Col11a2	T	A	17: 34,063,895		probably benign	Het
Coq10b	A	G	1: 55,061,354	R66G	probably damaging	Het
Cpn2	A	T	16: 30,259,667	Y405*	probably null	Het
Dis3	A	T	14: 99,084,142	Y590N	probably damaging	Het
Dpy19l1	T	C	9: 24,462,584	H270R	probably benign	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Ephx1	C	T	1: 180,994,677	G101S	probably damaging	Het
Flg	A	T	3: 93,279,913	Y224F	possibly damaging	Het
Focad	G	T	4: 88,357,468	V1105L	unknown	Het
Fzd1	A	G	5: 4,756,812	Y257H	probably benign	Het
Gm11116	T	C	5: 88,111,452		probably benign	Het
Gm11938	G	A	11: 99,603,245	S8F	unknown	Het
Gm9008	A	T	6: 76,497,605	N9K	unknown	Het
Grin3a	A	T	4: 49,844,423	V220E	probably damaging	Het
Gstt2	T	C	10: 75,834,264	D8G	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hook3	A	G	8: 26,071,056		probably null	Het
Itpr2	T	C	6: 146,350,068	D993G	possibly damaging	Het
Jhy	T	C	9: 40,961,148	R22G	probably benign	Het
Krt13	A	C	11: 100,121,100	H132Q	possibly damaging	Het
Krtap27-1	G	A	16: 88,671,311	S115L	probably damaging	Het
L1td1	T	C	4: 98,737,449	V627A	probably benign	Het
Lrrn4cl	A	G	19: 8,851,771	T38A	probably benign	Het
Ly96	A	G	1: 16,706,175	T112A	probably benign	Het
Meltf	G	T	16: 31,883,929	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,248,405	H1040Q	probably damaging	Het
Npas4	G	A	19: 4,988,183	P199L	probably benign	Het
Olfr1087	A	G	2: 86,690,384	M197T	probably benign	Het
Olfr530	T	C	7: 140,373,476	I45V	possibly damaging	Het
Olfr569	T	A	7: 102,887,626	I176F	probably damaging	Het
Pcdh10	A	T	3: 45,384,177	H923L	probably damaging	Het
Pias3	T	C	3: 96,701,403	S228P	probably damaging	Het
Pign	A	G	1: 105,653,192	V154A	probably benign	Het
Plod3	T	A	5: 136,990,176	V305E	possibly damaging	Het
Prkra	G	T	2: 76,647,240	H40Q	possibly damaging	Het
Prss22	T	A	17: 23,996,357	E148D	probably benign	Het
Psg17	A	G	7: 18,816,802	V376A	possibly damaging	Het
Retnlg	A	T	16: 48,873,628	D49V	possibly damaging	Het
Rtp1	A	G	16: 23,431,374	E163G	probably damaging	Het
Slc6a20a	T	A	9: 123,637,100	I522F	probably damaging	Het
Slco5a1	T	C	1: 12,989,615	D294G	probably damaging	Het
Slco6d1	A	G	1: 98,490,549	T487A	possibly damaging	Het
Smarcc2	A	T	10: 128,469,082	D262V	possibly damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Ssbp3	G	T	4: 107,047,415	D336Y	probably damaging	Het
Sun2	A	G	15: 79,725,557	S694P	probably benign	Het
Tdp1	G	A	12: 99,891,343		probably null	Het
Tfap2a	A	T	13: 40,725,137	I204N	probably damaging	Het
Tfip11	T	A	5: 112,334,432	W519R	probably damaging	Het
Tie1	T	C	4: 118,476,176	E831G	possibly damaging	Het
Tjp1	A	G	7: 65,312,553		probably null	Het
Tln2	C	T	9: 67,286,514	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,693,183	I78M	possibly damaging	Het
Trank1	T	C	9: 111,391,479	V2428A	probably benign	Het
Trim35	A	G	14: 66,304,168	E247G	probably damaging	Het
Tsc22d1	T	C	14: 76,418,102	S674P	probably damaging	Het
Tsn	A	T	1: 118,300,888	D201E	probably damaging	Het
Usp42	A	T	5: 143,714,866	V1134E	possibly damaging	Het
Uvrag	A	G	7: 99,099,394	I117T	probably damaging	Het
Vmn1r192	A	G	13: 22,187,271	S260P	probably benign	Het
Vmn2r110	C	T	17: 20,580,578	A531T	possibly damaging	Het
Wdsub1	A	T	2: 59,858,714	I388N	probably damaging	Het
Wnt10b	A	T	15: 98,772,675	L228Q	probably damaging	Het
Zbtb34	A	C	2: 33,411,336	S398A	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- CCTTCGTTCCAAGCTAATCCCACAG -3'
(R):5'- TGTTTCAGAGACACCGCAGTTCATC -3'

Sequencing Primer
(F):5'- TGGGATTTATAGAAATGGGACTCAG -3'
(R):5'- gcagagcaggaaactgagg -3'

Posted On

2014-05-23