Mutagenetix > Incidental Mutation

Incidental Mutation 'R6965:Bpifa1'

541927

Institutional Source

Beutler Lab

Gene Symbol

Bpifa1

Ensembl Gene

ENSMUSG00000027483

Gene Name

BPI fold containing family A, member 1

Synonyms

SPLUNC1, Plunc

MMRRC Submission

045075-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6965 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

153984800-153991137 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 153987581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 144 (G144S)

Ref Sequence

ENSEMBL: ENSMUSP00000028985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028985]

AlphaFold

P97361

Predicted Effect

probably damaging
Transcript: ENSMUST00000028985
AA Change: G144S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028985
Gene: ENSMUSG00000027483
AA Change: G144S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:LBP_BPI_CETP	83	256	2e-43	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The encoded antimicrobial protein displays antibacterial activity against Gram-negative bacteria. It is thought to be involved in inflammatory responses to irritants in the upper airways and may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only three are known. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a knock-out or ENU-induced allele exhibit increased susceptiblity to Mycoplasma pneumoniae infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,882,452 (GRCm39)	Q1205*	probably null	Het
Als2	A	G	1: 59,209,716 (GRCm39)	F1422S	possibly damaging	Het
Anapc4	T	C	5: 52,993,093 (GRCm39)	V68A	possibly damaging	Het
Atmin	T	C	8: 117,683,777 (GRCm39)	F479S	probably damaging	Het
Atp7b	T	C	8: 22,518,101 (GRCm39)	T234A	probably benign	Het
Brf2	A	T	8: 27,614,586 (GRCm39)	M200K	probably benign	Het
C1ql2	G	A	1: 120,268,944 (GRCm39)	C33Y	probably damaging	Het
Cdk18	A	G	1: 132,045,319 (GRCm39)	V269A	probably damaging	Het
Clcc1	T	C	3: 108,580,625 (GRCm39)	V313A	probably damaging	Het
Cntrl	A	T	2: 35,052,845 (GRCm39)	T1117S	probably benign	Het
Col15a1	G	A	4: 47,247,533 (GRCm39)	E236K	probably damaging	Het
Comp	T	C	8: 70,829,164 (GRCm39)	L278P	probably damaging	Het
Csnk2a1-ps3	C	T	1: 156,352,119 (GRCm39)	R107*	probably null	Het
Dlg5	C	A	14: 24,199,498 (GRCm39)	D1469Y	probably damaging	Het
Efna1	A	T	3: 89,186,782 (GRCm39)	V23D	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epb41l4b	T	C	4: 57,040,915 (GRCm39)	Y516C	probably damaging	Het
Esr2	T	C	12: 76,168,631 (GRCm39)	D526G	probably damaging	Het
Fam184b	T	C	5: 45,712,477 (GRCm39)	T514A	probably benign	Het
Fcmr	A	C	1: 130,803,724 (GRCm39)	E176A	possibly damaging	Het
Fry	T	A	5: 150,339,685 (GRCm39)	N1485K	possibly damaging	Het
Fut2	A	G	7: 45,300,305 (GRCm39)	C156R	probably damaging	Het
Gm5431	T	C	11: 48,786,027 (GRCm39)	Y116C	probably benign	Het
Gm5493	T	A	17: 22,967,047 (GRCm39)	V61E	possibly damaging	Het
Golga4	A	T	9: 118,377,847 (GRCm39)	Q456L	probably damaging	Het
Gpam	T	C	19: 55,063,041 (GRCm39)	Y757C	probably damaging	Het
Iqcg	C	T	16: 32,851,174 (GRCm39)	A266T	probably benign	Het
Lta4h	G	T	10: 93,307,759 (GRCm39)	G331*	probably null	Het
Macf1	C	A	4: 123,302,538 (GRCm39)	V655F	probably benign	Het
Map3k13	T	A	16: 21,740,900 (GRCm39)	D742E	probably benign	Het
Mrgprb2	G	A	7: 48,202,597 (GRCm39)	L43F	probably damaging	Het
N4bp1	T	C	8: 87,571,461 (GRCm39)	R846G	probably damaging	Het
Nbn	T	C	4: 15,970,863 (GRCm39)	I282T	probably benign	Het
Ncor1	C	T	11: 62,244,059 (GRCm39)		probably null	Het
Or4a77	G	T	2: 89,487,009 (GRCm39)	P259T	probably damaging	Het
Or4d10c	A	G	19: 12,066,120 (GRCm39)	F12S	possibly damaging	Het
Or8b12	T	A	9: 37,657,433 (GRCm39)	M1K	probably null	Het
Pclo	A	G	5: 14,731,976 (GRCm39)		probably benign	Het
Pde9a	G	T	17: 31,662,861 (GRCm39)	V97L	probably benign	Het
Ptch1	T	C	13: 63,672,881 (GRCm39)	Y771C	possibly damaging	Het
R3hcc1l	G	A	19: 42,551,284 (GRCm39)	D94N	probably damaging	Het
Rnpep	T	A	1: 135,190,858 (GRCm39)	K602*	probably null	Het
Rph3al	T	C	11: 75,745,276 (GRCm39)	Y156C	probably damaging	Het
Rundc1	A	T	11: 101,324,737 (GRCm39)	Y481F	possibly damaging	Het
Serpinb9f	A	G	13: 33,509,859 (GRCm39)	K17R	possibly damaging	Het
Smpd3	T	C	8: 106,986,513 (GRCm39)	H459R	probably damaging	Het
Spata31	A	C	13: 65,070,648 (GRCm39)	Q932P	possibly damaging	Het
Srgap3	C	T	6: 112,700,090 (GRCm39)	A963T	probably damaging	Het
Syne1	A	T	10: 5,179,120 (GRCm39)	F4451L	possibly damaging	Het
Tbc1d19	T	A	5: 54,014,266 (GRCm39)		probably null	Het
Thap12	T	A	7: 98,364,669 (GRCm39)	V279D	probably damaging	Het
Tmprss6	T	C	15: 78,328,328 (GRCm39)	D544G	probably damaging	Het
Tox2	A	G	2: 163,164,930 (GRCm39)	*523W	probably null	Het
Txnrd1	T	C	10: 82,717,652 (GRCm39)	I212T	probably benign	Het
Unc80	T	C	1: 66,685,725 (GRCm39)	I2283T	probably benign	Het
Vmn1r176	A	G	7: 23,535,099 (GRCm39)	I18T	possibly damaging	Het
Vmn2r101	C	T	17: 19,811,284 (GRCm39)	T456I	probably benign	Het
Vmn2r79	T	A	7: 86,651,100 (GRCm39)	H166Q	probably benign	Het
Zer1	A	G	2: 29,991,059 (GRCm39)	V723A	possibly damaging	Het

Other mutations in Bpifa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01154:Bpifa1	APN	2	153,985,920 (GRCm39)	missense	probably benign	0.02
IGL03065:Bpifa1	APN	2	153,989,562 (GRCm39)	missense	probably damaging	1.00
R0226:Bpifa1	UTSW	2	153,987,977 (GRCm39)	missense	probably benign	0.03
R1946:Bpifa1	UTSW	2	153,987,554 (GRCm39)	missense	probably damaging	1.00
R1986:Bpifa1	UTSW	2	153,986,256 (GRCm39)	missense	probably damaging	1.00
R5608:Bpifa1	UTSW	2	153,989,495 (GRCm39)	intron	probably benign
R5868:Bpifa1	UTSW	2	153,985,796 (GRCm39)	missense	unknown
R6122:Bpifa1	UTSW	2	153,985,892 (GRCm39)	missense	probably benign	0.11
R6297:Bpifa1	UTSW	2	153,986,180 (GRCm39)	missense	probably benign	0.01
R6315:Bpifa1	UTSW	2	153,987,996 (GRCm39)	missense	possibly damaging	0.48
R8154:Bpifa1	UTSW	2	153,987,654 (GRCm39)	missense	possibly damaging	0.47
R8183:Bpifa1	UTSW	2	153,988,039 (GRCm39)	missense	possibly damaging	0.91
R9214:Bpifa1	UTSW	2	153,985,789 (GRCm39)	missense	unknown
R9221:Bpifa1	UTSW	2	153,988,052 (GRCm39)	missense	possibly damaging	0.63
R9435:Bpifa1	UTSW	2	153,985,843 (GRCm39)	missense	unknown
X0017:Bpifa1	UTSW	2	153,988,071 (GRCm39)	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- GTGTATTAGGGTTCAATTCAGGCAG -3'
(R):5'- GTTTGCTCAATGGACCAGCC -3'

Sequencing Primer
(F):5'- GGTGTGCTGGAAAAACTCTCTTCC -3'
(R):5'- CGCTGTGCTAAGGTTCGAGAC -3'

Posted On

2018-11-28