Mutagenetix > Incidental Mutation

Incidental Mutation 'R7463:Bpifc'

578570

Institutional Source

Beutler Lab

Gene Symbol

Bpifc

Ensembl Gene

ENSMUSG00000050108

Gene Name

BPI fold containing family C

Synonyms

Bpil2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R7463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85959340-86011895 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85979334 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 256 (E256G)

Ref Sequence

ENSEMBL: ENSMUSP00000063107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061699]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000061699
AA Change: E256G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000063107
Gene: ENSMUSG00000050108
AA Change: E256G

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
BPI1	33	257	8.89e-23	SMART
BPI2	272	474	2.29e-25	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,323,772	V435E	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adcy2	T	C	13: 68,730,280	D413G	probably damaging	Het
Adgrg6	T	A	10: 14,434,396	D727V	possibly damaging	Het
Aebp2	C	T	6: 140,637,726	Q309*	probably null	Het
Amy1	A	T	3: 113,569,884	C43*	probably null	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Carmil3	C	T	14: 55,502,396	P980L	probably damaging	Het
Coch	T	A	12: 51,593,625	M1K	probably null	Het
Cpt2	A	T	4: 107,908,157	F137I	probably damaging	Het
Crem	T	C	18: 3,295,094	I112V	probably benign	Het
Cul9	A	G	17: 46,520,476		probably null	Het
Cyp3a41a	T	A	5: 145,713,564	I90F	probably damaging	Het
Cyp4f16	C	T	17: 32,550,787	A457V	possibly damaging	Het
Ddx6	A	G	9: 44,628,729	E318G	probably damaging	Het
Dip2b	A	G	15: 100,154,157	E213G	probably benign	Het
Dlx5	T	C	6: 6,878,316	H238R	probably damaging	Het
Dnaic2	A	C	11: 114,754,406	I556L	probably benign	Het
Dnmt1	C	T	9: 20,912,225	V1147M	possibly damaging	Het
Egf	G	T	3: 129,740,015	Q59K	probably benign	Het
Ermp1	A	T	19: 29,646,262	Y109*	probably null	Het
Fer1l6	T	A	15: 58,573,601	Y573*	probably null	Het
Fmnl1	T	C	11: 103,193,128	L503P	probably damaging	Het
Gnptab	T	G	10: 88,431,389	I447M	probably damaging	Het
Hgf	G	A	5: 16,578,450	D253N	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Igf2r	T	C	17: 12,710,645	T958A	probably benign	Het
Kcnd2	T	A	6: 21,216,498	L67Q	probably damaging	Het
Kif5a	A	G	10: 127,243,724	V248A	probably damaging	Het
Krt33b	A	G	11: 100,029,563	I88T	probably damaging	Het
Lhx2	G	A	2: 38,351,846	E25K	possibly damaging	Het
Mex3d	C	T	10: 80,381,698	G562R		Het
Myom2	A	T	8: 15,117,679	Y1088F	probably null	Het
Ncapg	T	A	5: 45,694,092		probably null	Het
Nudc	A	C	4: 133,534,403	V190G	possibly damaging	Het
Obscn	G	T	11: 59,122,860	R1054S	probably benign	Het
Olfr1045	T	C	2: 86,197,838	M305V	probably benign	Het
Olfr1510	A	G	14: 52,410,711	W54R	probably benign	Het
Olfr651	T	C	7: 104,553,482	S188P	possibly damaging	Het
Olfr683	T	A	7: 105,143,937	M119L	probably benign	Het
Olfr710	A	T	7: 106,944,173	V276E	probably damaging	Het
Olfr979	A	G	9: 40,000,564	V221A	probably benign	Het
Pcdh10	A	T	3: 45,383,572	R891S	possibly damaging	Het
Pcdh15	C	T	10: 74,631,770	S1873L	possibly damaging	Het
Pcdh7	A	G	5: 57,720,998	K632E	probably benign	Het
Pcdhgb8	G	A	18: 37,763,427	A517T	probably damaging	Het
Ptgr2	A	T	12: 84,292,298		probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Racgap1	T	A	15: 99,642,958	T4S	probably benign	Het
Rb1cc1	A	G	1: 6,249,180	H941R	probably benign	Het
Reln	T	C	5: 22,103,435	H312R	probably damaging	Het
Rnf166	T	A	8: 122,467,987	H208L	probably damaging	Het
Theg	T	C	10: 79,576,715	E314G	probably damaging	Het
Timeless	T	C	10: 128,250,426	S999P	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tor1aip1	A	T	1: 156,007,609	H349Q	possibly damaging	Het
Ttn	T	A	2: 76,920,460	E3415V	probably benign	Het
Vmn2r102	A	T	17: 19,676,624	N78Y	probably damaging	Het
Wdr11	A	T	7: 129,607,086	D427V	probably damaging	Het
Zer1	A	T	2: 30,113,437		probably benign	Het
Zfp516	T	A	18: 82,957,108	M477K	probably benign	Het

Other mutations in Bpifc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Bpifc	APN	10	85960528	missense	possibly damaging	0.85
IGL01474:Bpifc	APN	10	86000639	start codon destroyed	probably damaging	0.98
IGL02437:Bpifc	APN	10	85988731	missense	probably damaging	1.00
R0689:Bpifc	UTSW	10	85960547	splice site	probably benign
R1205:Bpifc	UTSW	10	85981304	missense	probably damaging	1.00
R1524:Bpifc	UTSW	10	85977735	missense	probably benign	0.01
R2033:Bpifc	UTSW	10	86000632	missense	possibly damaging	0.88
R3103:Bpifc	UTSW	10	85993422	missense	probably damaging	1.00
R3609:Bpifc	UTSW	10	86000638	start codon destroyed	probably null	1.00
R3874:Bpifc	UTSW	10	85991254	missense	probably benign
R4728:Bpifc	UTSW	10	85991199	missense	possibly damaging	0.50
R5079:Bpifc	UTSW	10	85981304	missense	probably damaging	1.00
R5193:Bpifc	UTSW	10	86000633	missense	probably benign	0.01
R6280:Bpifc	UTSW	10	85977712	missense	probably benign	0.02
R6291:Bpifc	UTSW	10	85976258	missense	probably damaging	1.00
R6945:Bpifc	UTSW	10	85979214	missense	probably benign	0.00
R7288:Bpifc	UTSW	10	85988721	missense	possibly damaging	0.95
R7310:Bpifc	UTSW	10	85963027	missense	probably damaging	1.00
R7807:Bpifc	UTSW	10	85976250	missense	possibly damaging	0.80
R8004:Bpifc	UTSW	10	85979284	missense	probably benign
R8225:Bpifc	UTSW	10	86000567	missense	probably benign	0.00
R8284:Bpifc	UTSW	10	86000549	missense	probably benign	0.00
R8364:Bpifc	UTSW	10	85962027	missense	probably damaging	0.99
R8770:Bpifc	UTSW	10	85965265	missense	probably damaging	1.00
R9427:Bpifc	UTSW	10	85976265	missense	probably benign
R9482:Bpifc	UTSW	10	85979254	missense	possibly damaging	0.68
Z1176:Bpifc	UTSW	10	85965228	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGGACATACACACATGCACG -3'
(R):5'- TTTGGCCAAGGAGCCTAAAG -3'

Sequencing Primer
(F):5'- CACGGTTAAAGATGATGACCAC -3'
(R):5'- GAGCCTAAAGACCTTGTCACGTTC -3'

Posted On

2019-10-07