Mutagenetix > Incidental Mutation

Incidental Mutation 'R7378:Bpifa6'

572440

Institutional Source

Beutler Lab

Gene Symbol

Bpifa6

Ensembl Gene

ENSMUSG00000078998

Gene Name

BPI fold containing family A, member 6

Synonyms

Gm5840

MMRRC Submission

045460-MU

Accession Numbers

Genbank: NM_001080811; MGI: 3647736

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7378 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

153974945-154000495 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 153986433 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 153 (A153E)

Ref Sequence

ENSEMBL: ENSMUSP00000105375 (fasta)

Gene Model

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

AlphaFold

Q0VGU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000109753
AA Change: A153E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105375
Gene: ENSMUSG00000078998
AA Change: A153E

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (138/140)

Allele List at MGI

Other mutations in this stock

Total: 142 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	C	6: 128,546,247 (GRCm38)		probably null	Het
Aars	A	G	8: 111,042,342 (GRCm38)	Y258C	probably damaging	Het
Acaa2	A	T	18: 74,805,872 (GRCm38)	Y376F	probably benign	Het
Adcy1	C	T	11: 7,169,543 (GRCm38)	S1062F	possibly damaging	Het
Adgrb3	A	T	1: 25,531,919 (GRCm38)	C492*	probably null	Het
Adgrg6	A	G	10: 14,535,892 (GRCm38)	F22S	probably benign	Het
Adh1	A	G	3: 138,288,887 (GRCm38)		probably null	Het
Afm	T	A	5: 90,551,400 (GRCm38)	C568S	probably benign	Het
Ago4	C	T	4: 126,511,464 (GRCm38)	E439K	probably benign	Het
Aifm2	T	G	10: 61,727,717 (GRCm38)	V122G	possibly damaging	Het
Akap6	A	G	12: 53,142,574 (GRCm38)	N2257S	probably benign	Het
Ap3m2	A	G	8: 22,804,010 (GRCm38)	I8T	probably benign	Het
Apc2	C	A	10: 80,311,394 (GRCm38)	L761I	probably damaging	Het
Arntl	C	A	7: 113,299,208 (GRCm38)	T281K	probably benign	Het
Asap2	A	G	12: 21,112,051 (GRCm38)	D3G	probably benign	Het
Asna1	A	T	8: 85,019,863 (GRCm38)	F119I	probably benign	Het
Asxl1	T	C	2: 153,401,993 (GRCm38)	C1489R	probably damaging	Het
Atm	T	G	9: 53,453,437 (GRCm38)		probably null	Het
Cav2	A	G	6: 17,282,060 (GRCm38)	T106A	probably benign	Het
Cavin4	A	G	4: 48,663,631 (GRCm38)	N4D	probably benign	Het
Cenpc1	T	C	5: 86,046,499 (GRCm38)	N136S	probably benign	Het
Cfap45	T	A	1: 172,538,343 (GRCm38)		probably null	Het
Col3a1	G	A	1: 45,327,647 (GRCm38)		probably null	Het
Crocc2	C	T	1: 93,194,087 (GRCm38)	L653F	probably damaging	Het
Cry2	A	G	2: 92,413,664 (GRCm38)	L388P	probably damaging	Het
Cstb	T	C	10: 78,426,988 (GRCm38)	F43S	probably damaging	Het
Ctcfl	A	G	2: 173,112,258 (GRCm38)	Y349H	probably damaging	Het
Ctu2	T	A	8: 122,481,499 (GRCm38)	V485D	probably damaging	Het
Cwc25	A	C	11: 97,747,997 (GRCm38)	L367R	possibly damaging	Het
Dock4	T	A	12: 40,788,244 (GRCm38)	H1061Q	possibly damaging	Het
Dpy19l3	C	A	7: 35,752,642 (GRCm38)	V26L	probably benign	Het
Dusp27	G	T	1: 166,112,063 (GRCm38)	S58*	probably null	Het
Elmo1	A	T	13: 20,280,935 (GRCm38)	I225F	probably benign	Het
Ep300	T	C	15: 81,650,545 (GRCm38)	S2268P	probably damaging	Het
F2r	C	T	13: 95,618,328 (GRCm38)	C16Y	probably damaging	Het
Fam126b	T	C	1: 58,530,034 (GRCm38)	K462R	probably benign	Het
Fbxo33	C	A	12: 59,204,371 (GRCm38)	E453*	probably null	Het
Flot1	A	T	17: 35,825,513 (GRCm38)	D186V	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203 (GRCm38)		probably benign	Het
Fras1	T	C	5: 96,596,785 (GRCm38)	C560R	probably damaging	Het
Gfi1	A	T	5: 107,723,229 (GRCm38)	S165T	possibly damaging	Het
Gli2	T	C	1: 118,848,492 (GRCm38)	D400G	probably damaging	Het
Gm11639	T	C	11: 104,714,702 (GRCm38)	I298T	probably benign	Het
Gm37240	T	A	3: 84,972,637 (GRCm38)		probably null	Het
Gml	C	T	15: 74,817,121 (GRCm38)	V27I	possibly damaging	Het
Htt	A	T	5: 34,803,799 (GRCm38)	I257F	probably benign	Het
Ier5	C	T	1: 155,098,692 (GRCm38)	V247M	probably damaging	Het
Ift46	C	T	9: 44,778,595 (GRCm38)		probably benign	Het
Il12b	A	G	11: 44,407,894 (GRCm38)	T59A	probably benign	Het
Insr	A	G	8: 3,198,231 (GRCm38)	L438P	probably damaging	Het
Iqgap2	C	T	13: 95,732,890 (GRCm38)		probably null	Het
Irx4	A	T	13: 73,267,553 (GRCm38)	T154S	possibly damaging	Het
Itgbl1	A	G	14: 123,857,489 (GRCm38)	K309E	probably benign	Het
Kcns2	T	A	15: 34,839,703 (GRCm38)	L404*	probably null	Het
Kif2c	T	C	4: 117,162,029 (GRCm38)	E644G	possibly damaging	Het
Klhl22	T	C	16: 17,776,805 (GRCm38)	L266P	probably damaging	Het
Krt71	T	A	15: 101,738,329 (GRCm38)	K315*	probably null	Het
Lca5	T	C	9: 83,395,530 (GRCm38)	N587S	probably benign	Het
Lrp1b	T	A	2: 41,295,669 (GRCm38)	M1459L		Het
Lrrtm2	T	C	18: 35,213,592 (GRCm38)	K219R	probably damaging	Het
Mcmbp	T	C	7: 128,704,517 (GRCm38)	D459G	probably damaging	Het
Megf8	A	G	7: 25,348,942 (GRCm38)	H1680R	probably damaging	Het
Mia3	A	G	1: 183,334,775 (GRCm38)	S301P	probably benign	Het
Mtrr	A	G	13: 68,564,402 (GRCm38)	Y622H	probably damaging	Het
Myo7b	T	A	18: 31,966,239 (GRCm38)	Q1710L	probably damaging	Het
Nab1	T	C	1: 52,480,995 (GRCm38)	N276D	probably damaging	Het
Nalcn	C	T	14: 123,302,890 (GRCm38)	R1127H	probably damaging	Het
Nbas	T	A	12: 13,274,219 (GRCm38)	I110N	probably damaging	Het
Nfe2l3	C	T	6: 51,457,296 (GRCm38)	Q279*	probably null	Het
Nlrp9c	C	T	7: 26,365,015 (GRCm38)	E963K	probably benign	Het
Nsmaf	A	G	4: 6,416,586 (GRCm38)	V569A	probably benign	Het
Olfr1066	T	C	2: 86,456,068 (GRCm38)	T68A	probably benign	Het
Olfr1338	T	C	4: 118,754,175 (GRCm38)	Y123C	possibly damaging	Het
Olfr199	T	A	16: 59,215,920 (GRCm38)	D231V	probably benign	Het
Olfr273	C	T	4: 52,856,421 (GRCm38)	V31I	probably benign	Het
Olfr481	T	C	7: 108,081,192 (GRCm38)	S133P	not run	Het
Olfr669	A	T	7: 104,939,431 (GRCm38)	I302F	probably benign	Het
Olfr69	T	A	7: 103,767,930 (GRCm38)	I156F	probably benign	Het
Olfr851	T	A	9: 19,497,102 (GRCm38)	M118K	probably damaging	Het
Olfr857	A	T	9: 19,712,887 (GRCm38)	D20V	probably damaging	Het
Olfr933	T	A	9: 38,975,721 (GRCm38)	V15E	probably benign	Het
Paf1	A	G	7: 28,396,928 (GRCm38)	Y322C	probably damaging	Het
Pcdha2	C	A	18: 36,939,385 (GRCm38)	A23D	possibly damaging	Het
Pcdhb6	G	A	18: 37,335,172 (GRCm38)	C382Y	probably damaging	Het
Pdzd7	C	T	19: 45,045,606 (GRCm38)	G13D	probably damaging	Het
Pik3r2	T	C	8: 70,769,381 (GRCm38)	N586S	probably benign	Het
Pik3r3	T	A	4: 116,270,830 (GRCm38)	D119E	probably benign	Het
Pkd2l1	T	A	19: 44,153,715 (GRCm38)	I535F	probably benign	Het
Ppfia3	T	C	7: 45,361,446 (GRCm38)		probably null	Het
Ppl	T	A	16: 5,112,996 (GRCm38)	Q53L	possibly damaging	Het
Rimbp3	T	G	16: 17,211,204 (GRCm38)	S831A	probably benign	Het
Rnps1	A	G	17: 24,418,530 (GRCm38)	T49A	unknown	Het
Rpl7a	T	A	2: 26,912,007 (GRCm38)		probably null	Het
Rrm2b	T	A	15: 37,931,647 (GRCm38)	E248D	probably benign	Het
Sdhaf4	A	G	1: 23,996,358 (GRCm38)	F70L	probably damaging	Het
Sel1l3	A	T	5: 53,116,409 (GRCm38)	S1038R	probably benign	Het
Selenoo	T	A	15: 89,089,478 (GRCm38)	F124I	probably benign	Het
Setbp1	A	T	18: 78,857,486 (GRCm38)	Y989N	probably damaging	Het
Slc1a7	A	G	4: 108,002,203 (GRCm38)	E163G	possibly damaging	Het
Slc22a2	T	C	17: 12,612,391 (GRCm38)	F356S	probably damaging	Het
Slc24a4	C	T	12: 102,239,176 (GRCm38)	P378L	probably benign	Het
Slc4a1ap	A	G	5: 31,527,527 (GRCm38)	D169G	probably benign	Het
Slc4a7	T	A	14: 14,757,421 (GRCm38)	V422D	probably damaging	Het
Slitrk6	T	C	14: 110,749,863 (GRCm38)	Y804C	probably damaging	Het
Smarcad1	T	A	6: 65,110,376 (GRCm38)	H906Q	probably benign	Het
Smn1	A	G	13: 100,127,865 (GRCm38)	T109A	probably damaging	Het
Sntb2	A	G	8: 106,981,312 (GRCm38)	N236S	probably damaging	Het
Spag9	T	A	11: 94,114,351 (GRCm38)		probably null	Het
Spg11	C	A	2: 122,058,429 (GRCm38)	G2154W	probably damaging	Het
Srsf6	T	C	2: 162,934,569 (GRCm38)	S278P	unknown	Het
Stag3	G	A	5: 138,281,960 (GRCm38)	R29H	probably benign	Het
Stambp	C	T	6: 83,563,906 (GRCm38)	V98I	not run	Het
Suco	T	C	1: 161,862,211 (GRCm38)	D89G	possibly damaging	Het
Suox	C	T	10: 128,671,041 (GRCm38)	V373I	probably benign	Het
Sv2b	T	A	7: 75,147,728 (GRCm38)		probably null	Het
Tatdn2	T	C	6: 113,704,701 (GRCm38)	L565P	probably damaging	Het
Tbpl2	T	A	2: 24,094,700 (GRCm38)	E145V	probably benign	Het
Tlr1	T	C	5: 64,925,228 (GRCm38)	I669V	not run	Het
Tmc1	A	T	19: 20,868,389 (GRCm38)	F157I	probably damaging	Het
Tmem26	T	G	10: 68,724,092 (GRCm38)		probably null	Het
Tmem33	A	T	5: 67,286,133 (GRCm38)	I218F	probably benign	Het
Tmem94	T	A	11: 115,794,174 (GRCm38)	D862E	probably damaging	Het
Tnr	T	C	1: 159,884,862 (GRCm38)		probably null	Het
Tnrc6c	T	C	11: 117,741,780 (GRCm38)	S1103P	probably benign	Het
Tomm70a	T	A	16: 57,146,044 (GRCm38)	Y453*	probably null	Het
Trabd	C	A	15: 89,085,290 (GRCm38)	R229S	possibly damaging	Het
Trappc10	T	C	10: 78,193,418 (GRCm38)	D1095G	probably damaging	Het
Trim27	A	G	13: 21,192,461 (GRCm38)	T460A	possibly damaging	Het
Tsen54	T	G	11: 115,821,705 (GRCm38)	D433E	probably benign	Het
Ubap2	A	G	4: 41,235,515 (GRCm38)		probably null	Het
Vat1l	A	T	8: 114,289,392 (GRCm38)	N341Y	possibly damaging	Het
Vmn2r82	C	G	10: 79,396,442 (GRCm38)	Y758*	probably null	Het
Vps16	T	G	2: 130,438,179 (GRCm38)	V108G	probably damaging	Het
Vps53	T	A	11: 76,077,074 (GRCm38)	I585F	possibly damaging	Het
Wrnip1	G	A	13: 32,816,281 (GRCm38)	V424M	probably benign	Het
Yif1a	G	A	19: 5,089,790 (GRCm38)	V88M	possibly damaging	Het
Zfat	T	C	15: 68,181,120 (GRCm38)	Y275C	probably damaging	Het
Zfhx3	A	G	8: 108,793,248 (GRCm38)	E334G	probably damaging	Het
Zfp277	T	C	12: 40,315,853 (GRCm38)	D539G	possibly damaging	Het
Zfp292	A	T	4: 34,808,384 (GRCm38)	N1558K	probably benign	Het
Zfp3	A	G	11: 70,772,073 (GRCm38)	K286R	probably benign	Het
Zfp366	T	C	13: 99,229,515 (GRCm38)	C395R	probably damaging	Het

Other mutations in Bpifa6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00910:Bpifa6	APN	2	153,990,466 (GRCm38)	missense	probably benign	0.00
IGL01805:Bpifa6	APN	2	153,984,912 (GRCm38)	missense	probably benign	0.03
IGL02246:Bpifa6	APN	2	153,989,276 (GRCm38)	missense	probably damaging	0.98
IGL02275:Bpifa6	APN	2	153,992,272 (GRCm38)	missense	probably benign	0.40
IGL02405:Bpifa6	APN	2	153,990,862 (GRCm38)	nonsense	probably null
IGL02587:Bpifa6	APN	2	153,989,210 (GRCm38)	missense	probably damaging	0.99
IGL03365:Bpifa6	APN	2	153,989,284 (GRCm38)	missense	possibly damaging	0.71
F6893:Bpifa6	UTSW	2	153,987,158 (GRCm38)	missense	probably damaging	1.00
FR4976:Bpifa6	UTSW	2	153,986,398 (GRCm38)	missense	probably benign
FR4976:Bpifa6	UTSW	2	153,986,376 (GRCm38)	missense	probably benign
R0131:Bpifa6	UTSW	2	153,982,931 (GRCm38)	missense	probably benign	0.11
R0131:Bpifa6	UTSW	2	153,982,931 (GRCm38)	missense	probably benign	0.11
R0132:Bpifa6	UTSW	2	153,982,931 (GRCm38)	missense	probably benign	0.11
R0799:Bpifa6	UTSW	2	153,992,272 (GRCm38)	missense	probably benign	0.40
R1468:Bpifa6	UTSW	2	153,989,272 (GRCm38)	missense	probably benign	0.01
R1468:Bpifa6	UTSW	2	153,989,272 (GRCm38)	missense	probably benign	0.01
R1767:Bpifa6	UTSW	2	153,987,227 (GRCm38)	missense	possibly damaging	0.95
R2255:Bpifa6	UTSW	2	153,990,895 (GRCm38)	missense	probably damaging	0.98
R2857:Bpifa6	UTSW	2	153,989,274 (GRCm38)	missense	probably benign	0.03
R3430:Bpifa6	UTSW	2	153,989,251 (GRCm38)	missense	probably benign	0.00
R4616:Bpifa6	UTSW	2	153,982,988 (GRCm38)	missense	possibly damaging	0.47
R5420:Bpifa6	UTSW	2	153,989,330 (GRCm38)	missense	probably damaging	0.98
R6224:Bpifa6	UTSW	2	153,987,153 (GRCm38)	missense	probably damaging	0.99
R6483:Bpifa6	UTSW	2	153,990,434 (GRCm38)	missense	probably benign	0.13
R6552:Bpifa6	UTSW	2	153,987,158 (GRCm38)	missense	probably damaging	0.99
R7061:Bpifa6	UTSW	2	153,992,316 (GRCm38)	missense	probably benign	0.00
R7472:Bpifa6	UTSW	2	153,989,329 (GRCm38)	missense	possibly damaging	0.93
R8313:Bpifa6	UTSW	2	153,989,258 (GRCm38)	nonsense	probably null
R9193:Bpifa6	UTSW	2	153,984,820 (GRCm38)	missense	probably benign	0.38
R9309:Bpifa6	UTSW	2	153,992,287 (GRCm38)	missense	probably benign	0.03
R9316:Bpifa6	UTSW	2	153,986,463 (GRCm38)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- AACTCCAGTGGATGATGGGG -3'
(R):5'- TGACCAATGCTTTAGGGAGTTGTC -3'

Sequencing Primer
(F):5'- GCTGGGTTCTATTAGTTCATCACAG -3'
(R):5'- TTCATGCCAGAGAGACTC -3'

Posted On

2019-09-13