Mutagenetix > Incidental Mutation

Incidental Mutation 'R8375:Bpifb3'

646611

Institutional Source

Beutler Lab

Gene Symbol

Bpifb3

Ensembl Gene

ENSMUSG00000068008

Gene Name

BPI fold containing family B, member 3

Synonyms

Rya3

MMRRC Submission

067743-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8375 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153760150-153774916 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 153767715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 263 (I263F)

Ref Sequence

ENSEMBL: ENSMUSP00000086342 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088950] [ENSMUST00000109760]

AlphaFold

Q80ZU7

Predicted Effect

probably benign
Transcript: ENSMUST00000088950
AA Change: I263F

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000086342
Gene: ENSMUSG00000068008
AA Change: I263F

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
BPI1	30	272	3.22e-52	SMART
BPI2	271	471	1.4e-70	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109760
AA Change: I263F

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000105382
Gene: ENSMUSG00000068008
AA Change: I263F

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
BPI1	30	272	3.22e-52	SMART
BPI2	271	471	1.4e-70	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	A	11: 9,265,416 (GRCm39)	F3030L	probably benign	Het
Abca13	A	T	11: 9,347,841 (GRCm39)	I3565F	probably damaging	Het
Ak7	A	T	12: 105,708,600 (GRCm39)	I352F	probably damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Anapc7	C	T	5: 122,566,342 (GRCm39)	P84S	probably benign	Het
Apol7a	A	T	15: 77,273,547 (GRCm39)	I305N	probably damaging	Het
Asf1b	C	T	8: 84,694,559 (GRCm39)	R108C	probably damaging	Het
Bicd1	A	T	6: 149,421,989 (GRCm39)	E903D	probably benign	Het
Cavin3	T	A	7: 105,130,228 (GRCm39)	S195C	probably damaging	Het
Chsy3	C	A	18: 59,312,585 (GRCm39)	R353S	probably damaging	Het
Col5a2	A	G	1: 45,481,890 (GRCm39)	V78A	unknown	Het
Cpxm1	C	T	2: 130,236,146 (GRCm39)	E339K	probably damaging	Het
Cyp26c1	G	T	19: 37,675,660 (GRCm39)	A175S	probably benign	Het
Dnah5	A	T	15: 28,327,489 (GRCm39)	T2069S	probably benign	Het
Ednrb	A	G	14: 104,057,383 (GRCm39)	F393S	probably damaging	Het
Fstl4	T	C	11: 53,053,502 (GRCm39)	S385P	possibly damaging	Het
Gabpb2	G	A	3: 95,112,109 (GRCm39)	S40L	probably damaging	Het
Gabrb1	T	C	5: 72,187,172 (GRCm39)	I155T	probably damaging	Het
Hc	T	A	2: 34,873,731 (GRCm39)	N1668Y	probably benign	Het
Kcnh1	A	G	1: 192,117,124 (GRCm39)	H670R	probably damaging	Het
Krt31	G	A	11: 99,938,603 (GRCm39)	A330V	probably benign	Het
Lrfn2	T	A	17: 49,403,851 (GRCm39)	M658K	possibly damaging	Het
Lrrc1	T	A	9: 77,365,129 (GRCm39)	N184I	probably damaging	Het
Lrrc69	T	C	4: 14,795,994 (GRCm39)	I18V	probably benign	Het
Lvrn	G	A	18: 46,983,289 (GRCm39)	V11M	probably damaging	Het
Map4k4	T	C	1: 40,063,801 (GRCm39)	S1199P	possibly damaging	Het
Mib1	T	C	18: 10,768,233 (GRCm39)		probably null	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Myo18b	C	T	5: 112,908,259 (GRCm39)	V2005I	possibly damaging	Het
Myo6	T	A	9: 80,162,206 (GRCm39)	H314Q	unknown	Het
Nat8f6	A	C	6: 85,785,888 (GRCm39)	M87R	probably benign	Het
Net1	A	G	13: 3,943,458 (GRCm39)		probably benign	Het
Notch4	C	T	17: 34,787,228 (GRCm39)	T294I	possibly damaging	Het
Nrros	A	G	16: 31,966,456 (GRCm39)	L36P	probably damaging	Het
Or8b12i	T	C	9: 20,082,037 (GRCm39)	M277V	probably benign	Het
Or8c9	G	C	9: 38,241,231 (GRCm39)	W113S	probably benign	Het
Padi3	T	C	4: 140,525,407 (GRCm39)	H202R	probably damaging	Het
Pik3ap1	A	T	19: 41,316,538 (GRCm39)	M284K	probably damaging	Het
Prr27	C	A	5: 87,990,710 (GRCm39)	Y107*	probably null	Het
Rab5c	G	T	11: 100,607,609 (GRCm39)	N188K	probably damaging	Het
Rlf	A	T	4: 121,005,532 (GRCm39)	S1259R	probably damaging	Het
Rrm2	T	C	12: 24,762,751 (GRCm39)	V298A	probably damaging	Het
Rtn4rl2	A	T	2: 84,711,033 (GRCm39)	L77H	possibly damaging	Het
Skint4	A	G	4: 111,975,173 (GRCm39)	I44M	probably damaging	Het
Spaca7	T	C	8: 12,648,998 (GRCm39)	I164T	probably benign	Het
Spg7	A	G	8: 123,800,568 (GRCm39)	S153G	probably damaging	Het
Spink5	T	C	18: 44,123,786 (GRCm39)	S358P	probably benign	Het
Stx5a	T	C	19: 8,732,462 (GRCm39)	M377T	unknown	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Ttc41	A	G	10: 86,599,844 (GRCm39)	D1048G	probably damaging	Het
Ttn	A	T	2: 76,557,509 (GRCm39)	W29862R	probably damaging	Het
Vmn1r203	T	G	13: 22,709,154 (GRCm39)	*312G	probably null	Het
Vmn2r74	T	G	7: 85,601,914 (GRCm39)	T575P	possibly damaging	Het
Zfp14	A	T	7: 29,738,579 (GRCm39)	N135K	possibly damaging	Het

Other mutations in Bpifb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01982:Bpifb3	APN	2	153,767,521 (GRCm39)	missense	probably benign	0.42
IGL02568:Bpifb3	APN	2	153,766,721 (GRCm39)	missense	probably benign	0.02
IGL02817:Bpifb3	APN	2	153,761,566 (GRCm39)	missense	unknown
IGL03175:Bpifb3	APN	2	153,761,568 (GRCm39)	missense	unknown
R0478:Bpifb3	UTSW	2	153,773,400 (GRCm39)	splice site	probably benign
R0538:Bpifb3	UTSW	2	153,765,789 (GRCm39)	missense	probably benign	0.05
R1633:Bpifb3	UTSW	2	153,764,504 (GRCm39)	missense	probably damaging	1.00
R1850:Bpifb3	UTSW	2	153,771,264 (GRCm39)	missense	possibly damaging	0.69
R1874:Bpifb3	UTSW	2	153,767,760 (GRCm39)	missense	probably benign	0.01
R5993:Bpifb3	UTSW	2	153,771,234 (GRCm39)	missense	probably benign	0.20
R6120:Bpifb3	UTSW	2	153,773,363 (GRCm39)	missense	probably benign	0.12
R6170:Bpifb3	UTSW	2	153,761,557 (GRCm39)	missense	unknown
R6216:Bpifb3	UTSW	2	153,767,773 (GRCm39)	missense	probably benign	0.17
R6274:Bpifb3	UTSW	2	153,771,243 (GRCm39)	missense	possibly damaging	0.87
R6431:Bpifb3	UTSW	2	153,766,728 (GRCm39)	missense	probably damaging	1.00
R6466:Bpifb3	UTSW	2	153,764,108 (GRCm39)	missense	probably damaging	0.99
R6609:Bpifb3	UTSW	2	153,762,568 (GRCm39)	critical splice donor site	probably null
R7334:Bpifb3	UTSW	2	153,761,654 (GRCm39)	missense	probably damaging	1.00
R8111:Bpifb3	UTSW	2	153,764,609 (GRCm39)	missense	probably benign	0.00
R8812:Bpifb3	UTSW	2	153,764,516 (GRCm39)	missense	probably benign	0.00
R9049:Bpifb3	UTSW	2	153,767,810 (GRCm39)	missense	probably benign	0.08
Z1177:Bpifb3	UTSW	2	153,767,709 (GRCm39)	missense	probably benign	0.36

Predicted Primers

PCR Primer
(F):5'- ATGTGAGTGTTCCAGGACCAG -3'
(R):5'- TCAGCAAGGCTATGAGGGAC -3'

Sequencing Primer
(F):5'- TTCCAGGACCAGGGCAGTG -3'
(R):5'- CATGAGGAAACCCAGCAGCAG -3'

Posted On

2020-09-02