Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01522:Bpifa3'

89444

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bpifa3

Ensembl Gene

ENSMUSG00000027482

Gene Name

BPI fold containing family A, member 3

Synonyms

1700058C13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

IGL01522

Quality Score

Status

Chromosome

Chromosomal Location

153972256-153980276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 153979502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 209 (C209Y)

Ref Sequence

ENSEMBL: ENSMUSP00000105368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028984] [ENSMUST00000109746] [ENSMUST00000125753]

AlphaFold

Q9D9J8

Predicted Effect

probably damaging
Transcript: ENSMUST00000028984
AA Change: C209Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028984
Gene: ENSMUSG00000027482
AA Change: C209Y

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:LBP_BPI_CETP	47	219	1.2e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109746
AA Change: C209Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105368
Gene: ENSMUSG00000027482
AA Change: C209Y

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:LBP_BPI_CETP	47	219	1e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125753

SMART Domains

Protein: ENSMUSP00000135866
Gene: ENSMUSG00000027482

Domain	Start	End	E-Value	Type
Pfam:LBP_BPI_CETP	1	95	4.1e-17	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	C	15: 11,065,245 (GRCm39)		probably null	Het
Adamts3	T	C	5: 89,850,802 (GRCm39)	N579S	probably benign	Het
Akr1c19	A	G	13: 4,289,098 (GRCm39)		probably benign	Het
Ankrd39	T	A	1: 36,581,142 (GRCm39)	H69L	probably damaging	Het
Apcdd1	T	A	18: 63,085,186 (GRCm39)	M461K	possibly damaging	Het
Cep131	T	C	11: 119,957,989 (GRCm39)	E779G	probably benign	Het
Cep85	T	C	4: 133,879,566 (GRCm39)	Q394R	probably damaging	Het
Cep85	G	T	4: 133,879,567 (GRCm39)	Q394K	probably damaging	Het
Clcn6	T	C	4: 148,101,992 (GRCm39)	Y364C	probably benign	Het
Fetub	G	A	16: 22,748,391 (GRCm39)	M1I	probably null	Het
Greb1	T	C	12: 16,751,202 (GRCm39)	I1003V	probably damaging	Het
Hsf3	A	G	X: 95,364,200 (GRCm39)		probably benign	Het
Jcad	A	G	18: 4,673,312 (GRCm39)	N358S	probably damaging	Het
Kndc1	T	C	7: 139,493,888 (GRCm39)		probably benign	Het
Lama1	A	T	17: 68,059,769 (GRCm39)		probably benign	Het
Mark2	A	G	19: 7,258,603 (GRCm39)	V50A	probably benign	Het
Mmp7	T	C	9: 7,692,229 (GRCm39)	W35R	probably damaging	Het
Ndc80	A	G	17: 71,806,320 (GRCm39)	V578A	probably benign	Het
Nfyc	T	C	4: 120,638,721 (GRCm39)	E42G	probably damaging	Het
Or1j15	A	G	2: 36,459,233 (GRCm39)	T208A	probably benign	Het
Or52b4	A	T	7: 102,184,391 (GRCm39)	I146F	probably damaging	Het
Or5d37	T	C	2: 87,923,360 (GRCm39)	K307E	possibly damaging	Het
Or8g21	A	T	9: 38,906,396 (GRCm39)	C112S	probably benign	Het
Or9i16	A	T	19: 13,864,722 (GRCm39)	L284*	probably null	Het
Pcdha11	T	C	18: 37,318,061 (GRCm39)	F925L	probably damaging	Het
Pdcd1	T	G	1: 93,968,571 (GRCm39)	R154S	probably benign	Het
Pepd	T	A	7: 34,623,865 (GRCm39)	D87E	probably benign	Het
Pfn4	A	G	12: 4,820,240 (GRCm39)	T30A	probably benign	Het
Pgpep1l	A	G	7: 67,887,456 (GRCm39)	M48T	possibly damaging	Het
Pla2g15	A	G	8: 106,889,748 (GRCm39)	N340S	probably benign	Het
Plcb4	A	G	2: 135,844,547 (GRCm39)	D155G	probably damaging	Het
Plg	G	A	17: 12,622,956 (GRCm39)	G499S	probably damaging	Het
Plin3	C	T	17: 56,587,799 (GRCm39)	W305*	probably null	Het
Polq	C	A	16: 36,848,265 (GRCm39)	L291I	probably damaging	Het
Sanbr	A	G	11: 23,532,865 (GRCm39)		probably null	Het
Sdf2l1	T	A	16: 16,950,014 (GRCm39)	H54L	probably damaging	Het
Slc38a2	C	T	15: 96,590,936 (GRCm39)	D276N	possibly damaging	Het
Syk	A	G	13: 52,797,097 (GRCm39)	T576A	probably benign	Het
Tas2r119	G	A	15: 32,178,339 (GRCm39)	V302I	probably benign	Het
Uso1	T	C	5: 92,329,278 (GRCm39)	F389L	probably damaging	Het
Wwc2	T	A	8: 48,321,668 (GRCm39)	Y482F	unknown	Het

Other mutations in Bpifa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0023:Bpifa3	UTSW	2	153,980,070 (GRCm39)	missense	probably damaging	0.97
R1067:Bpifa3	UTSW	2	153,979,529 (GRCm39)	missense	probably damaging	1.00
R4163:Bpifa3	UTSW	2	153,977,516 (GRCm39)	missense	probably damaging	0.97
R4614:Bpifa3	UTSW	2	153,978,200 (GRCm39)	missense	probably damaging	0.99
R5124:Bpifa3	UTSW	2	153,980,057 (GRCm39)	nonsense	probably null
R5704:Bpifa3	UTSW	2	153,979,562 (GRCm39)	critical splice donor site	probably null
R5706:Bpifa3	UTSW	2	153,977,498 (GRCm39)	missense	probably damaging	0.98
R5975:Bpifa3	UTSW	2	153,978,241 (GRCm39)	missense	probably damaging	0.96
R6116:Bpifa3	UTSW	2	153,975,633 (GRCm39)	missense	possibly damaging	0.90
R6858:Bpifa3	UTSW	2	153,979,514 (GRCm39)	missense	probably benign	0.12
R8503:Bpifa3	UTSW	2	153,972,550 (GRCm39)	missense	probably damaging	1.00
R9088:Bpifa3	UTSW	2	153,975,685 (GRCm39)	missense	possibly damaging	0.64
R9325:Bpifa3	UTSW	2	153,975,600 (GRCm39)	missense	probably damaging	1.00
Z1176:Bpifa3	UTSW	2	153,972,391 (GRCm39)	start gained	probably benign
Z1177:Bpifa3	UTSW	2	153,978,212 (GRCm39)	missense	possibly damaging	0.95

Posted On

2013-12-03