Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01653:Bpifb4'

102882

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bpifb4

Ensembl Gene

ENSMUSG00000074665

Gene Name

BPI fold containing family B, member 4

Synonyms

LOC381399, Gm1006

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL01653

Quality Score

Status

Chromosome

Chromosomal Location

153938212-153964101 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 153944783 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 285 (D285G)

Ref Sequence

ENSEMBL: ENSMUSP00000105381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099181] [ENSMUST00000109757] [ENSMUST00000109759]

AlphaFold

A2BGH0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099181
AA Change: D71G

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096786
Gene: ENSMUSG00000074665
AA Change: D71G

Domain	Start	End	E-Value	Type
BPI1	2	177	3.47e-25	SMART
BPI2	201	403	3.62e-78	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109757
AA Change: D285G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105379
Gene: ENSMUSG00000074665
AA Change: D285G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
BPI1	171	391	1.23e-48	SMART
BPI2	415	617	3.62e-78	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109759
AA Change: D285G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105381
Gene: ENSMUSG00000074665
AA Change: D285G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
BPI1	171	391	1.23e-48	SMART
BPI2	415	617	3.62e-78	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155239

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	T	C	7: 42,446,974	D119G	probably damaging	Het
5430403G16Rik	A	C	5: 109,677,316	Y89*	probably null	Het
Apol7c	A	G	15: 77,526,300	C149R	probably damaging	Het
Arfgef1	G	A	1: 10,159,908	R1235*	probably null	Het
Cep192	T	A	18: 67,852,972	H1682Q	possibly damaging	Het
Cerk	G	T	15: 86,149,351	Y290*	probably null	Het
Cyld	A	T	8: 88,741,370	I544F	probably damaging	Het
Dcp1a	T	C	14: 30,505,571	S134P	possibly damaging	Het
Epha6	A	C	16: 59,839,303	N817K	probably benign	Het
Ephb4	A	G	5: 137,365,741		probably benign	Het
Fcgr3	A	T	1: 171,059,280	L25Q	probably damaging	Het
Heatr3	A	G	8: 88,144,617	I83V	probably benign	Het
Hormad1	T	A	3: 95,578,297	N265K	possibly damaging	Het
Kpna1	A	G	16: 36,020,192	T201A	probably benign	Het
Krt6b	T	A	15: 101,679,114	T182S	probably damaging	Het
Macc1	A	G	12: 119,450,353	K755E	probably damaging	Het
Med12l	C	T	3: 59,261,893	T1568M	probably damaging	Het
Muc4	G	T	16: 32,761,348		probably null	Het
Myt1l	T	C	12: 29,910,771	S1028P	unknown	Het
Nhlrc2	C	T	19: 56,570,850	R256C	probably benign	Het
Olfr1230	T	A	2: 89,297,127	T48S	probably benign	Het
Olfr1441	G	A	19: 12,422,372	R21H	probably benign	Het
Pfkfb4	G	A	9: 108,999,134	R79H	probably damaging	Het
Piezo2	T	C	18: 63,182,833		probably benign	Het
Pramel5	C	T	4: 144,273,859	R49H	probably benign	Het
Ralgapb	T	A	2: 158,462,159	S613T	possibly damaging	Het
Ryr1	T	C	7: 29,078,597	E2158G	probably damaging	Het
Scgb2b19	T	A	7: 33,279,728	Y43F	probably damaging	Het
Slc17a6	A	G	7: 51,668,022	T468A	possibly damaging	Het
Slc36a1	A	G	11: 55,228,321	D374G	possibly damaging	Het
Wdtc1	T	C	4: 133,295,232	D601G	probably damaging	Het

Other mutations in Bpifb4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01567:Bpifb4	APN	2	153947278	splice site	probably benign
IGL01641:Bpifb4	APN	2	153942681	missense	possibly damaging	0.96
IGL02745:Bpifb4	APN	2	153947221	missense	probably damaging	1.00
R0106:Bpifb4	UTSW	2	153940968	missense	probably benign	0.02
R0309:Bpifb4	UTSW	2	153959683	missense	probably damaging	0.97
R0561:Bpifb4	UTSW	2	153944822	missense	probably damaging	1.00
R0601:Bpifb4	UTSW	2	153947283	splice site	probably benign
R1937:Bpifb4	UTSW	2	153944076	missense	probably damaging	0.98
R2433:Bpifb4	UTSW	2	153959677	missense	probably damaging	0.98
R2679:Bpifb4	UTSW	2	153948624	missense	probably damaging	0.97
R2896:Bpifb4	UTSW	2	153954437	splice site	probably benign
R4701:Bpifb4	UTSW	2	153950385	missense	probably damaging	1.00
R4772:Bpifb4	UTSW	2	153942983	missense	possibly damaging	0.93
R5403:Bpifb4	UTSW	2	153943992	missense	probably damaging	0.99
R5695:Bpifb4	UTSW	2	153942923	missense	probably damaging	0.99
R5894:Bpifb4	UTSW	2	153940932	missense	possibly damaging	0.49
R6007:Bpifb4	UTSW	2	153942560	missense	possibly damaging	0.49
R6302:Bpifb4	UTSW	2	153959667	missense	probably benign	0.00
R6351:Bpifb4	UTSW	2	153957134	missense	probably damaging	0.96
R6755:Bpifb4	UTSW	2	153957738	missense	probably damaging	0.98
R6796:Bpifb4	UTSW	2	153961547	missense	probably damaging	1.00
R6932:Bpifb4	UTSW	2	153942627	missense	possibly damaging	0.49
R7489:Bpifb4	UTSW	2	153944004	missense	probably damaging	1.00
R7986:Bpifb4	UTSW	2	153957730	missense	probably benign	0.00
R8826:Bpifb4	UTSW	2	153941897	missense	probably benign	0.01
R9019:Bpifb4	UTSW	2	153948687	nonsense	probably null
RF061:Bpifb4	UTSW	2	153957128	critical splice acceptor site	probably benign
X0018:Bpifb4	UTSW	2	153944061	missense	probably damaging	1.00
Z1176:Bpifb4	UTSW	2	153942832	missense	probably benign	0.33

Posted On

2014-01-21