Mutagenetix > Incidental Mutations

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

IGL01522

Quality Score

Status

Chromosome

Chromosomal Location

154130336-154138356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 154137582 bp (GRCm38)

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
0610010F05Rik	A	G	11: 23,582,865		probably null	Het
Adamts12	T	C	15: 11,065,159		probably null	Het
Adamts3	T	C	5: 89,702,943	N579S	probably benign	Het
Akr1c19	A	G	13: 4,239,099		probably benign	Het
Ankrd39	T	A	1: 36,542,061	H69L	probably damaging	Het
Apcdd1	T	A	18: 62,952,115	M461K	possibly damaging	Het
Cep131	T	C	11: 120,067,163	E779G	probably benign	Het
Cep85	T	C	4: 134,152,255	Q394R	probably damaging	Het
Cep85	G	T	4: 134,152,256	Q394K	probably damaging	Het
Clcn6	T	C	4: 148,017,535	Y364C	probably benign	Het
Fetub	G	A	16: 22,929,641	M1I	probably null	Het
Greb1	T	C	12: 16,701,201	I1003V	probably damaging	Het
Hsf3	A	G	X: 96,320,594		probably benign	Het
Jcad	A	G	18: 4,673,312	N358S	probably damaging	Het
Kndc1	T	C	7: 139,913,972		probably benign	Het
Lama1	A	T	17: 67,752,774		probably benign	Het
Mark2	A	G	19: 7,281,238	V50A	probably benign	Het
Mmp7	T	C	9: 7,692,228	W35R	probably damaging	Het
Ndc80	A	G	17: 71,499,325	V578A	probably benign	Het
Nfyc	T	C	4: 120,781,524	E42G	probably damaging	Het
Olfr1164	T	C	2: 88,093,016	K307E	possibly damaging	Het
Olfr1504	A	T	19: 13,887,358	L284*	probably null	Het
Olfr344	A	G	2: 36,569,221	T208A	probably benign	Het
Olfr547	A	T	7: 102,535,184	I146F	probably damaging	Het
Olfr935	A	T	9: 38,995,100	C112S	probably benign	Het
Pcdha11	T	C	18: 37,185,008	F925L	probably damaging	Het
Pdcd1	T	G	1: 94,040,846	R154S	probably benign	Het
Pepd	T	A	7: 34,924,440	D87E	probably benign	Het
Pfn4	A	G	12: 4,770,240	T30A	probably benign	Het
Pgpep1l	A	G	7: 68,237,708	M48T	possibly damaging	Het
Pla2g15	A	G	8: 106,163,116	N340S	probably benign	Het
Plcb4	A	G	2: 136,002,627	D155G	probably damaging	Het
Plg	G	A	17: 12,404,069	G499S	probably damaging	Het
Plin3	C	T	17: 56,280,799	W305*	probably null	Het
Polq	C	A	16: 37,027,903	L291I	probably damaging	Het
Sdf2l1	T	A	16: 17,132,150	H54L	probably damaging	Het
Slc38a2	C	T	15: 96,693,055	D276N	possibly damaging	Het
Syk	A	G	13: 52,643,061	T576A	probably benign	Het
Tas2r119	G	A	15: 32,178,193	V302I	probably benign	Het
Uso1	T	C	5: 92,181,419	F389L	probably damaging	Het
Wwc2	T	A	8: 47,868,633	Y482F	unknown	Het

Other mutations in Bpifa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0023:Bpifa3	UTSW	2	154138150	missense	probably damaging	0.97
R1067:Bpifa3	UTSW	2	154137609	missense	probably damaging	1.00
R4163:Bpifa3	UTSW	2	154135596	missense	probably damaging	0.97
R4614:Bpifa3	UTSW	2	154136280	missense	probably damaging	0.99
R5124:Bpifa3	UTSW	2	154138137	nonsense	probably null
R5704:Bpifa3	UTSW	2	154137642	critical splice donor site	probably null
R5706:Bpifa3	UTSW	2	154135578	missense	probably damaging	0.98
R5975:Bpifa3	UTSW	2	154136321	missense	probably damaging	0.96
R6116:Bpifa3	UTSW	2	154133713	missense	possibly damaging	0.90
R6858:Bpifa3	UTSW	2	154137594	missense	probably benign	0.12
R8503:Bpifa3	UTSW	2	154130630	missense	probably damaging	1.00
R9088:Bpifa3	UTSW	2	154133765	missense	possibly damaging	0.64
R9325:Bpifa3	UTSW	2	154133680	missense	probably damaging	1.00
Z1176:Bpifa3	UTSW	2	154130471	start gained	probably benign
Z1177:Bpifa3	UTSW	2	154136292	missense	possibly damaging	0.95

Posted On

2013-12-03