Mutagenetix > Incidental Mutation

Incidental Mutation 'R8225:Bpifc'

636946

Institutional Source

Beutler Lab

Gene Symbol

Bpifc

Ensembl Gene

ENSMUSG00000050108

Gene Name

BPI fold containing family C

Synonyms

Bpil2

MMRRC Submission

067642-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R8225 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85795555-85847724 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85836431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 25 (T25A)

Ref Sequence

ENSEMBL: ENSMUSP00000063107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061699] [ENSMUST00000105304]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000061699
AA Change: T25A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000063107
Gene: ENSMUSG00000050108
AA Change: T25A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105304
AA Change: T25A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000100941
Gene: ENSMUSG00000050108
AA Change: T25A

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
SCOP:d1ewfa1	26	82	2e-13	SMART
Blast:BPI1	33	82	7e-27	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	C	1: 25,865,597 (GRCm39)	N82S	probably benign	Het
Ago3	A	T	4: 126,247,532 (GRCm39)	L595Q	probably damaging	Het
Bsn	T	A	9: 107,984,305 (GRCm39)	T478S		Het
Cacna1d	A	G	14: 29,844,990 (GRCm39)	V720A	probably benign	Het
Cd109	G	T	9: 78,568,972 (GRCm39)	K350N	probably damaging	Het
Cdk6	C	A	5: 3,440,790 (GRCm39)	P115T	probably benign	Het
Clock	T	C	5: 76,389,759 (GRCm39)	N363S	probably damaging	Het
Defa42	T	C	8: 21,946,418 (GRCm39)	D39G	possibly damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Dock10	T	A	1: 80,481,447 (GRCm39)	K517*	probably null	Het
Dynlt1a	G	T	17: 6,361,628 (GRCm39)	Q71K	probably damaging	Het
Epb41l3	C	T	17: 69,581,796 (GRCm39)	T591I	possibly damaging	Het
Exosc10	G	A	4: 148,649,661 (GRCm39)	V364I	possibly damaging	Het
Fabp3-ps1	A	G	10: 86,568,098 (GRCm39)	I52T	noncoding transcript	Het
Fndc3a	T	C	14: 72,795,117 (GRCm39)	Q766R	probably benign	Het
Gm10608	CACACACACAGA	CA	9: 118,989,776 (GRCm39)		probably null	Het
Gm10645	C	T	8: 83,892,467 (GRCm39)	R80H	unknown	Het
Gpr146	A	T	5: 139,378,371 (GRCm39)	M58L	probably benign	Het
Gzf1	T	A	2: 148,532,764 (GRCm39)	F639L	probably benign	Het
Kars1	T	C	8: 112,729,970 (GRCm39)	I136V	probably benign	Het
Kcnj3	G	A	2: 55,327,726 (GRCm39)	V172M	probably damaging	Het
Kcnk10	A	G	12: 98,406,849 (GRCm39)		probably null	Het
Nagpa	C	A	16: 5,016,724 (GRCm39)	D334Y	probably damaging	Het
Nsun2	T	C	13: 69,760,493 (GRCm39)	I57T	possibly damaging	Het
Or5b107	A	T	19: 13,142,507 (GRCm39)	N43I	probably damaging	Het
Pax8	A	T	2: 24,312,983 (GRCm39)	L432Q	probably damaging	Het
Plxna4	A	G	6: 32,139,038 (GRCm39)	L1710P	probably damaging	Het
Prdm16	A	G	4: 154,439,702 (GRCm39)		probably null	Het
Qrich2	A	G	11: 116,344,894 (GRCm39)	L1721P	probably damaging	Het
Sbsn	TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG	TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG	7: 30,451,419 (GRCm39)		probably benign	Het
Sbsn	T	C	7: 30,451,869 (GRCm39)	F295L	probably benign	Het
Slc4a7	C	T	14: 14,738,224 (GRCm38)	R153*	probably null	Het
Sult6b2	A	T	6: 142,750,055 (GRCm39)	M21K	probably benign	Het
Swt1	A	C	1: 151,297,859 (GRCm39)	S23A	possibly damaging	Het
Synm	A	C	7: 67,408,797 (GRCm39)	S194A	probably benign	Het
Sytl2	G	A	7: 90,024,725 (GRCm39)	A238T	probably benign	Het
Tax1bp1	G	A	6: 52,721,340 (GRCm39)		probably null	Het
Tfr2	G	A	5: 137,569,725 (GRCm39)	A74T	possibly damaging	Het
Tns1	G	A	1: 74,025,046 (GRCm39)	T389I	probably damaging	Het
Trpm2	C	T	10: 77,783,807 (GRCm39)	R222Q	probably damaging	Het
Trpm4	A	G	7: 44,954,758 (GRCm39)	C1094R	probably benign	Het
Ube2q2l	A	T	6: 136,378,110 (GRCm39)	L240Q	probably damaging	Het
Uty	T	C	Y: 1,158,634 (GRCm39)	S471G	probably benign	Het
Vipr1	A	T	9: 121,471,915 (GRCm39)	M1L	possibly damaging	Het
Vps13b	A	G	15: 35,794,528 (GRCm39)	R2313G	probably damaging	Het
Xrn1	T	A	9: 95,917,720 (GRCm39)	C1301S	probably benign	Het
Ythdc1	A	T	5: 86,964,796 (GRCm39)	S164C	possibly damaging	Het
Ythdc1	G	T	5: 86,964,797 (GRCm39)	S164I	possibly damaging	Het
Zbtb9	T	A	17: 27,193,759 (GRCm39)	I388N	probably damaging	Het
Zfp521	T	C	18: 13,978,359 (GRCm39)	I685V	probably benign	Het

Other mutations in Bpifc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00264:Bpifc	APN	10	85,796,392 (GRCm39)	missense	possibly damaging	0.85
IGL01474:Bpifc	APN	10	85,836,503 (GRCm39)	start codon destroyed	probably damaging	0.98
IGL02437:Bpifc	APN	10	85,824,595 (GRCm39)	missense	probably damaging	1.00
R0689:Bpifc	UTSW	10	85,796,411 (GRCm39)	splice site	probably benign
R1205:Bpifc	UTSW	10	85,817,168 (GRCm39)	missense	probably damaging	1.00
R1524:Bpifc	UTSW	10	85,813,599 (GRCm39)	missense	probably benign	0.01
R2033:Bpifc	UTSW	10	85,836,496 (GRCm39)	missense	possibly damaging	0.88
R3103:Bpifc	UTSW	10	85,829,286 (GRCm39)	missense	probably damaging	1.00
R3609:Bpifc	UTSW	10	85,836,502 (GRCm39)	start codon destroyed	probably null	1.00
R3874:Bpifc	UTSW	10	85,827,118 (GRCm39)	missense	probably benign
R4728:Bpifc	UTSW	10	85,827,063 (GRCm39)	missense	possibly damaging	0.50
R5079:Bpifc	UTSW	10	85,817,168 (GRCm39)	missense	probably damaging	1.00
R5193:Bpifc	UTSW	10	85,836,497 (GRCm39)	missense	probably benign	0.01
R6280:Bpifc	UTSW	10	85,813,576 (GRCm39)	missense	probably benign	0.02
R6291:Bpifc	UTSW	10	85,812,122 (GRCm39)	missense	probably damaging	1.00
R6945:Bpifc	UTSW	10	85,815,078 (GRCm39)	missense	probably benign	0.00
R7288:Bpifc	UTSW	10	85,824,585 (GRCm39)	missense	possibly damaging	0.95
R7310:Bpifc	UTSW	10	85,798,891 (GRCm39)	missense	probably damaging	1.00
R7463:Bpifc	UTSW	10	85,815,198 (GRCm39)	missense	probably benign	0.00
R7807:Bpifc	UTSW	10	85,812,114 (GRCm39)	missense	possibly damaging	0.80
R8004:Bpifc	UTSW	10	85,815,148 (GRCm39)	missense	probably benign
R8284:Bpifc	UTSW	10	85,836,413 (GRCm39)	missense	probably benign	0.00
R8364:Bpifc	UTSW	10	85,797,891 (GRCm39)	missense	probably damaging	0.99
R8770:Bpifc	UTSW	10	85,801,129 (GRCm39)	missense	probably damaging	1.00
R9427:Bpifc	UTSW	10	85,812,129 (GRCm39)	missense	probably benign
R9482:Bpifc	UTSW	10	85,815,118 (GRCm39)	missense	possibly damaging	0.68
Z1176:Bpifc	UTSW	10	85,801,092 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTAGAACTGACGCGCACATC -3'
(R):5'- TGCATAAGTGGGTCAGCAAATG -3'

Sequencing Primer
(F):5'- CCATGCAGGTAGACCTCAGATCTG -3'
(R):5'- AGGCCTAGATGGATAGGTAAAATTAG -3'

Posted On

2020-07-13