Mutagenetix > Incidental Mutation

Incidental Mutation 'R0269:Bpifb1'

35130

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

038495-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0269 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

154032738-154062263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 154054867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 253 (D253G)

Ref Sequence

ENSEMBL: ENSMUSP00000080501 (fasta)

Gene Model

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

AlphaFold

Q61114

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028987
AA Change: D253G

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028987
Gene: ENSMUSG00000027485
AA Change: D253G

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

possibly damaging
Transcript: ENSMUST00000081816
AA Change: D253G

PolyPhen 2 Score 0.515 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000080501
Gene: ENSMUSG00000027485
AA Change: D253G

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

noncoding transcript
Transcript: ENSMUST00000123017

Meta Mutation Damage Score

0.4757

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.1%
20x: 93.6%

Validation Efficiency

100% (59/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,838,201 (GRCm39)	V231I	possibly damaging	Het
Abca1	T	C	4: 53,044,228 (GRCm39)	D1798G	probably benign	Het
Adcy2	T	A	13: 68,826,725 (GRCm39)	K660*	probably null	Het
Alk	G	T	17: 72,910,578 (GRCm39)	P43T	probably damaging	Het
Amhr2	T	C	15: 102,355,503 (GRCm39)	C189R	probably benign	Het
Arrb1	T	C	7: 99,243,884 (GRCm39)	L278P	probably damaging	Het
AW551984	T	C	9: 39,511,246 (GRCm39)	Y153C	probably damaging	Het
Bpifb9b	C	T	2: 154,161,545 (GRCm39)	T559M	probably benign	Het
Cd46	T	G	1: 194,746,996 (GRCm39)	I339L	probably benign	Het
Cdkn2aip	A	G	8: 48,165,012 (GRCm39)	S234P	probably damaging	Het
Chil3	T	C	3: 106,063,072 (GRCm39)	K173E	probably benign	Het
Csf2rb2	G	T	15: 78,173,065 (GRCm39)	T265N	probably benign	Het
Cyp2c40	A	G	19: 39,762,340 (GRCm39)	F436L	probably damaging	Het
D130040H23Rik	T	C	8: 69,753,446 (GRCm39)	F24S	probably benign	Het
Defb12	G	T	8: 19,164,375 (GRCm39)	A34E	probably damaging	Het
Fam234a	A	T	17: 26,435,591 (GRCm39)	D264E	probably benign	Het
Fbxl17	A	C	17: 63,691,987 (GRCm39)	F42V	probably damaging	Het
Gldc	T	A	19: 30,096,002 (GRCm39)	I670F	probably damaging	Het
Guf1	A	C	5: 69,716,942 (GRCm39)	Q168P	probably damaging	Het
Hcn2	A	G	10: 79,570,075 (GRCm39)		probably benign	Het
Hddc2	A	G	10: 31,203,942 (GRCm39)	M190V	probably benign	Het
Kcnq2	T	C	2: 180,738,767 (GRCm39)	E294G	probably benign	Het
Kdelr1	T	A	7: 45,523,463 (GRCm39)		probably benign	Het
Kidins220	T	A	12: 25,090,511 (GRCm39)	H1158Q	probably damaging	Het
Laptm5	A	T	4: 130,658,127 (GRCm39)	N185Y	probably benign	Het
Mgat4a	A	G	1: 37,529,388 (GRCm39)	Y164H	possibly damaging	Het
Mlh3	C	A	12: 85,315,179 (GRCm39)	V336L	probably benign	Het
Myadm	A	G	7: 3,345,273 (GRCm39)	T12A	unknown	Het
Nol8	T	C	13: 49,807,921 (GRCm39)	F46L	possibly damaging	Het
Ntrk1	T	C	3: 87,691,240 (GRCm39)	D308G	possibly damaging	Het
Oog3	A	T	4: 143,886,784 (GRCm39)	V112D	probably benign	Het
Or4a66	A	G	2: 88,531,040 (GRCm39)	V211A	probably damaging	Het
Or5af2	T	C	11: 58,707,975 (GRCm39)	V47A	probably damaging	Het
Or5m9b	A	G	2: 85,905,485 (GRCm39)	M134V	probably benign	Het
Or8g34	T	C	9: 39,373,090 (GRCm39)	M118T	probably damaging	Het
Or9s18	A	T	13: 65,300,692 (GRCm39)	Y218F	possibly damaging	Het
Pramel14	A	G	4: 143,720,088 (GRCm39)		probably benign	Het
Prss39	A	T	1: 34,539,279 (GRCm39)	H173L	probably damaging	Het
Rabl6	A	G	2: 25,476,878 (GRCm39)		probably null	Het
Recql5	T	C	11: 115,819,050 (GRCm39)	D172G	possibly damaging	Het
Reln	T	C	5: 22,125,535 (GRCm39)	D2716G	probably damaging	Het
Rgs7	A	G	1: 175,098,386 (GRCm39)	S58P	possibly damaging	Het
Sema6d	T	A	2: 124,502,665 (GRCm39)	F583L	possibly damaging	Het
Sgsm1	T	C	5: 113,434,795 (GRCm39)		probably null	Het
Slc22a19	A	T	19: 7,686,986 (GRCm39)		probably benign	Het
Slc6a21	T	A	7: 44,936,332 (GRCm39)	Y428*	probably null	Het
Smarca4	T	G	9: 21,547,497 (GRCm39)	M260R	probably benign	Het
Smg6	C	A	11: 75,053,757 (GRCm39)	T1413K	probably benign	Het
Spata17	T	C	1: 186,830,069 (GRCm39)	I322V	probably benign	Het
Stxbp1	A	C	2: 32,692,795 (GRCm39)	I407S	probably damaging	Het
Sult1d1	A	T	5: 87,712,661 (GRCm39)	I61N	probably damaging	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tm4sf5	T	A	11: 70,401,495 (GRCm39)	S165T	probably damaging	Het
Tmx2	T	C	2: 84,502,740 (GRCm39)	D256G	probably benign	Het
Trmt11	T	A	10: 30,463,485 (GRCm39)	H210L	probably benign	Het
Tut7	A	T	13: 59,964,669 (GRCm39)		probably null	Het
Ush2a	T	A	1: 188,542,373 (GRCm39)	M3313K	probably benign	Het
Zfp955b	A	T	17: 33,524,437 (GRCm39)	S43R	probably damaging	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
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
R9120:Bpifb1	UTSW	2	154,046,692 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ACTGGCCTGGAATGAGGTTTCCAC -3'
(R):5'- GAATCAGGGCAGAGCTGATCGTTAC -3'

Sequencing Primer
(F):5'- ATCAAAGTCCTCAGACCGTG -3'
(R):5'- CAGAGCTGATCGTTACTGGGAG -3'

Posted On

2013-05-09