Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01532:Bfar'

278559

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bfar

Ensembl Gene

ENSMUSG00000022684

Gene Name

bifunctional apoptosis regulator

Synonyms

3010001A07Rik, RNF47

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

IGL01532

Quality Score

Status

Chromosome

Chromosomal Location

13671858-13703612 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 13687387 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023365] [ENSMUST00000069281] [ENSMUST00000127973]

Predicted Effect

probably benign
Transcript: ENSMUST00000023365

SMART Domains

Protein: ENSMUSP00000023365
Gene: ENSMUSG00000022684

Domain	Start	End	E-Value	Type
RING	34	73	2.71e-6	SMART
transmembrane domain	142	164	N/A	INTRINSIC
SAM	179	249	1.82e-6	SMART
transmembrane domain	361	380	N/A	INTRINSIC
transmembrane domain	407	429	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000069281

SMART Domains

Protein: ENSMUSP00000063371
Gene: ENSMUSG00000022684

Domain	Start	End	E-Value	Type
RING	34	73	2.71e-6	SMART
low complexity region	86	97	N/A	INTRINSIC
PDB:1V85\|A	98	123	2e-8	PDB
Blast:SAM	98	124	2e-8	BLAST
transmembrane domain	236	255	N/A	INTRINSIC
transmembrane domain	282	304	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127973

SMART Domains

Protein: ENSMUSP00000115585
Gene: ENSMUSG00000022684

Domain	Start	End	E-Value	Type
RING	34	73	2.71e-6	SMART
transmembrane domain	142	161	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148079

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154568

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
Adamts17	C	A	7: 66,908,601	N264K	probably damaging	Het
Adgrl3	C	T	5: 81,694,569	T260I	probably damaging	Het
Ambra1	G	T	2: 91,885,632	K769N	probably damaging	Het
Arel1	A	G	12: 84,934,162	V357A	possibly damaging	Het
Atp11b	T	A	3: 35,849,502	C76*	probably null	Het
AW112010	C	A	19: 11,048,069		noncoding transcript	Het
Ccdc70	T	G	8: 21,973,283	L30V	probably damaging	Het
Chrm5	C	T	2: 112,479,232	R513Q	probably benign	Het
Crem	G	A	18: 3,276,732	T7I	probably benign	Het
Cyp4f39	C	T	17: 32,470,954		probably benign	Het
Dlg5	T	C	14: 24,158,592	T849A	probably benign	Het
Dock8	G	T	19: 25,169,441	G1428V	probably damaging	Het
Eomes	T	C	9: 118,482,249	I380T	probably damaging	Het
Fam13a	T	C	6: 58,940,295	D532G	probably damaging	Het
Fopnl	A	G	16: 14,304,511	S130P	probably benign	Het
Gm10061	G	T	16: 89,151,302	*55L	probably null	Het
Gm27438	T	G	2: 87,252,925		probably benign	Het
Gpalpp1	T	C	14: 76,102,502	K124E	probably benign	Het
Hgs	T	A	11: 120,477,509		probably null	Het
Hpn	T	A	7: 31,103,513	M121L	possibly damaging	Het
Il1r1	T	C	1: 40,294,928		probably null	Het
Jag2	A	T	12: 112,914,363	C583S	probably damaging	Het
Katnal2	T	C	18: 77,012,000	H146R	probably benign	Het
Ldah	T	C	12: 8,220,596		probably benign	Het
Lvrn	T	A	18: 46,900,484	Y921N	probably damaging	Het
Muc5b	A	G	7: 141,870,006	Y4572C	possibly damaging	Het
Myo16	A	G	8: 10,400,551	S518G	probably benign	Het
Ncf1	T	C	5: 134,226,593	N148S	probably benign	Het
Nes	T	G	3: 87,978,347	D1260E	possibly damaging	Het
Nup210	C	A	6: 91,085,999		probably benign	Het
Olfr548-ps1	T	C	7: 102,542,656	L240P	probably damaging	Het
Rnf31	C	A	14: 55,602,623	Q968K	probably damaging	Het
Ros1	A	G	10: 52,090,938		probably benign	Het
Ryk	T	C	9: 102,897,266	Y400H	probably benign	Het
Slc4a5	T	A	6: 83,273,040		probably null	Het
Sptssb	A	G	3: 69,820,869		probably benign	Het
Sstr5	T	C	17: 25,491,331	D308G	probably damaging	Het
Taf2	A	G	15: 55,049,486	W493R	possibly damaging	Het
Vmn2r28	T	A	7: 5,486,464	I459L	probably benign	Het
Vti1b	A	C	12: 79,165,138	L1W	probably null	Het
Wdr1	T	C	5: 38,535,187	Y125C	probably damaging	Het

Other mutations in Bfar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Bfar	APN	16	13698963	missense	probably benign	0.03
IGL01067:Bfar	APN	16	13685241	missense	probably damaging	1.00
IGL02727:Bfar	APN	16	13688927	critical splice donor site	probably null
IGL03189:Bfar	APN	16	13687501	missense	possibly damaging	0.89
R1167:Bfar	UTSW	16	13698894	missense	possibly damaging	0.92
R1213:Bfar	UTSW	16	13687444	missense	possibly damaging	0.89
R1620:Bfar	UTSW	16	13688846	missense	probably damaging	1.00
R1951:Bfar	UTSW	16	13702106	missense	probably damaging	0.99
R2193:Bfar	UTSW	16	13697471	missense	probably benign
R4578:Bfar	UTSW	16	13687443	missense	probably benign	0.20
R4789:Bfar	UTSW	16	13685137	start codon destroyed	probably null	0.99
R4819:Bfar	UTSW	16	13687467	nonsense	probably null
R5271:Bfar	UTSW	16	13692397	intron	probably benign
R6346:Bfar	UTSW	16	13702133	missense	probably damaging	0.99
R7186:Bfar	UTSW	16	13692507	missense	probably benign
R7758:Bfar	UTSW	16	13702121	missense	possibly damaging	0.66
X0021:Bfar	UTSW	16	13687587	missense	probably benign	0.25
Z1088:Bfar	UTSW	16	13697460	missense	probably damaging	0.99
Z1177:Bfar	UTSW	16	13688810	missense	probably benign	0.03

Posted On

2015-04-16