Mutagenetix > Incidental Mutation

Incidental Mutation 'R9120:Bpifb1'

692713

Institutional Source

Beutler Lab

Gene Symbol

Bpifb1

Ensembl Gene

ENSMUSG00000027485

Gene Name

BPI fold containing family B, member 1

Synonyms

U46068, LPlunc1, von Ebner minor salivary protein

MMRRC Submission

068923-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9120 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

154032738-154062263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154046692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 71 (I71V)

Ref Sequence

ENSEMBL: ENSMUSP00000028987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028987] [ENSMUST00000081816]

AlphaFold

Q61114

Predicted Effect

probably benign
Transcript: ENSMUST00000028987
AA Change: I71V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000028987
Gene: ENSMUSG00000027485
AA Change: I71V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
BPI1	36	256	3.3e-40	SMART
Pfam:LBP_BPI_CETP_C	331	470	1.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000081816
AA Change: I71V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000080501
Gene: ENSMUSG00000027485
AA Change: I71V

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
BPI1	36	256	3.3e-40	SMART
Pfam:LBP_BPI_CETP_C	331	470	1.6e-8	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit strain background sensitive transmission ratio distortion and increased basal MUC5B production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,209,141 (GRCm39)		probably benign	Het
Adgrb2	A	G	4: 129,906,302 (GRCm39)	N910S	possibly damaging	Het
Arhgap24	A	T	5: 103,040,016 (GRCm39)	I411F	probably benign	Het
BC030500	T	A	8: 59,365,911 (GRCm39)	L15Q	unknown	Het
BC051665	A	G	13: 60,932,916 (GRCm39)	V15A	probably benign	Het
Bicc1	T	C	10: 70,776,862 (GRCm39)	D732G	probably damaging	Het
Btnl1	A	T	17: 34,598,681 (GRCm39)	Q99L	possibly damaging	Het
Castor1	T	A	11: 4,170,767 (GRCm39)	V196D	possibly damaging	Het
Col9a2	G	T	4: 120,900,951 (GRCm39)		probably benign	Het
D7Ertd443e	T	A	7: 133,871,986 (GRCm39)	D625V	probably damaging	Het
Dchs2	A	T	3: 83,187,535 (GRCm39)	D1327V	probably damaging	Het
Ddx1	A	G	12: 13,275,458 (GRCm39)	V543A	possibly damaging	Het
Dgkz	G	T	2: 91,768,545 (GRCm39)	D714E	probably benign	Het
Dlk1	A	G	12: 109,424,051 (GRCm39)	D105G	probably benign	Het
Fndc3a	A	G	14: 72,802,133 (GRCm39)	F557L	probably benign	Het
Gm28042	C	T	2: 119,869,462 (GRCm39)	L609F	probably damaging	Het
Gsap	A	G	5: 21,458,434 (GRCm39)	I473V	probably damaging	Het
Jag1	A	T	2: 136,930,354 (GRCm39)	M730K	probably benign	Het
Kazald1	A	T	19: 45,065,211 (GRCm39)	T31S	probably benign	Het
Ldhb	A	G	6: 142,439,935 (GRCm39)	W202R	probably damaging	Het
Lrrcc1	C	T	3: 14,615,489 (GRCm39)	Q528*	probably null	Het
Magi2	A	T	5: 20,733,305 (GRCm39)	K525I	possibly damaging	Het
Map2	A	G	1: 66,453,218 (GRCm39)	I703V	probably damaging	Het
Mdn1	A	T	4: 32,701,814 (GRCm39)	M1516L	probably damaging	Het
Mpzl2	T	A	9: 44,958,583 (GRCm39)	S186R	probably benign	Het
Mtif2	T	C	11: 29,483,951 (GRCm39)	M208T	probably benign	Het
Myo3a	T	C	2: 22,436,464 (GRCm39)	V873A	probably benign	Het
Or10ac1	A	C	6: 42,515,583 (GRCm39)	Y124*	probably null	Het
Or1j4	T	A	2: 36,740,143 (GRCm39)	Y28*	probably null	Het
Or5d38	A	G	2: 87,955,123 (GRCm39)	S69P	probably damaging	Het
Or5p6	T	C	7: 107,630,887 (GRCm39)	Y221C	probably damaging	Het
Or8g51	A	G	9: 38,608,735 (GRCm39)	F309S	probably benign	Het
Pgap4	A	G	4: 49,587,093 (GRCm39)	V25A	probably benign	Het
Plod2	G	T	9: 92,424,380 (GRCm39)		probably benign	Het
Rgs14	A	C	13: 55,528,792 (GRCm39)	D311A	probably damaging	Het
Rin1	C	A	19: 5,103,048 (GRCm39)	P446T	probably damaging	Het
Ripor3	T	C	2: 167,822,835 (GRCm39)	K909E	possibly damaging	Het
Rnf139	T	C	15: 58,771,685 (GRCm39)	L570P	probably damaging	Het
Snx17	A	G	5: 31,355,026 (GRCm39)	E347G	probably damaging	Het
Spaca1	A	G	4: 34,029,168 (GRCm39)	S220P	probably damaging	Het
Spen	G	T	4: 141,200,233 (GRCm39)	T2798K		Het
Tacc1	G	T	8: 25,659,255 (GRCm39)	S570R	probably damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Trim63	G	A	4: 134,055,003 (GRCm39)		probably benign	Het
Trmt2a	C	A	16: 18,067,722 (GRCm39)	R132S	probably damaging	Het
Ttn	T	C	2: 76,768,716 (GRCm39)	E2952G	unknown	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Vmn1r211	A	T	13: 23,035,936 (GRCm39)	F244I	probably damaging	Het
Vmn2r86	T	G	10: 130,289,677 (GRCm39)	S73R	probably benign	Het
Wdr27	A	G	17: 15,152,846 (GRCm39)	L87P	probably damaging	Het
Zfp148	A	G	16: 33,317,596 (GRCm39)	N756S	probably benign	Het
Zfp57	G	A	17: 37,320,650 (GRCm39)	R168H	probably benign	Het

Other mutations in Bpifb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Bpifb1	APN	2	154,059,087 (GRCm39)	splice site	probably benign
IGL01516:Bpifb1	APN	2	154,060,172 (GRCm39)	missense	probably benign	0.03
IGL02047:Bpifb1	APN	2	154,044,536 (GRCm39)	start codon destroyed	probably null	1.00
IGL02143:Bpifb1	APN	2	154,051,849 (GRCm39)	missense	probably benign	0.14
IGL03174:Bpifb1	APN	2	154,054,969 (GRCm39)	missense	probably damaging	1.00
IGL03263:Bpifb1	APN	2	154,057,226 (GRCm39)	missense	probably benign	0.03
Ectoplasm	UTSW	2	154,053,501 (GRCm39)	nonsense	probably null
R0058:Bpifb1	UTSW	2	154,048,460 (GRCm39)	missense	possibly damaging	0.54
R0269:Bpifb1	UTSW	2	154,054,867 (GRCm39)	missense	possibly damaging	0.51
R0617:Bpifb1	UTSW	2	154,054,867 (GRCm39)	missense	possibly damaging	0.51
R0786:Bpifb1	UTSW	2	154,044,581 (GRCm39)	missense	probably benign	0.11
R1718:Bpifb1	UTSW	2	154,055,903 (GRCm39)	splice site	probably null
R3605:Bpifb1	UTSW	2	154,053,485 (GRCm39)	missense	possibly damaging	0.78
R3607:Bpifb1	UTSW	2	154,053,485 (GRCm39)	missense	possibly damaging	0.78
R3689:Bpifb1	UTSW	2	154,051,819 (GRCm39)	missense	probably benign	0.42
R3807:Bpifb1	UTSW	2	154,055,922 (GRCm39)	missense	probably benign	0.25
R3930:Bpifb1	UTSW	2	154,057,242 (GRCm39)	missense	possibly damaging	0.89
R4024:Bpifb1	UTSW	2	154,054,966 (GRCm39)	missense	probably damaging	1.00
R4745:Bpifb1	UTSW	2	154,053,501 (GRCm39)	nonsense	probably null
R4752:Bpifb1	UTSW	2	154,058,200 (GRCm39)	intron	probably benign
R5505:Bpifb1	UTSW	2	154,046,699 (GRCm39)	missense	probably benign	0.00
R5724:Bpifb1	UTSW	2	154,046,712 (GRCm39)	missense	probably benign
R6281:Bpifb1	UTSW	2	154,048,385 (GRCm39)	missense	probably damaging	1.00
R7038:Bpifb1	UTSW	2	154,044,589 (GRCm39)	missense	probably damaging	0.99
R7246:Bpifb1	UTSW	2	154,049,012 (GRCm39)	missense	probably damaging	1.00
R7540:Bpifb1	UTSW	2	154,055,031 (GRCm39)	missense	probably damaging	1.00
R7599:Bpifb1	UTSW	2	154,056,071 (GRCm39)	missense	probably damaging	1.00
R7678:Bpifb1	UTSW	2	154,044,649 (GRCm39)	missense	possibly damaging	0.74
R7811:Bpifb1	UTSW	2	154,048,484 (GRCm39)	splice site	probably null
R9031:Bpifb1	UTSW	2	154,051,848 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCCTCAGTGATGGACCTTCAAC -3'
(R):5'- TAGAGGTACCAGTGACACTGCC -3'

Sequencing Primer
(F):5'- TGATGGACCTTCAACCCGGAG -3'
(R):5'- AGTGACACTGCCTTATGGAC -3'

Posted On

2021-12-30