Mutagenetix > Incidental Mutation

Incidental Mutation 'R6346:Bfar'

513971

Institutional Source

Beutler Lab

Gene Symbol

Bfar

Ensembl Gene

ENSMUSG00000022684

Gene Name

bifunctional apoptosis regulator

Synonyms

RNF47

MMRRC Submission

044500-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R6346 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13489722-13521476 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13519997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 285 (F285S)

Ref Sequence

ENSEMBL: ENSMUSP00000063371 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023365
AA Change: F410S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023365
Gene: ENSMUSG00000022684
AA Change: F410S

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 damaging
Transcript: ENSMUST00000069281
AA Change: F285S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063371
Gene: ENSMUSG00000022684
AA Change: F285S

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: ENSMUST00000154568

Meta Mutation Damage Score

0.0883

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	C	T	7: 75,335,002 (GRCm39)	S455L	probably damaging	Het
Apbb1ip	T	G	2: 22,757,005 (GRCm39)		probably null	Het
Arhgap18	A	T	10: 26,722,061 (GRCm39)	I11F	probably damaging	Het
Arl14epl	A	T	18: 47,059,409 (GRCm39)	N8I	possibly damaging	Het
Atp4a	T	A	7: 30,414,781 (GRCm39)	I190N	possibly damaging	Het
Carf	C	T	1: 60,180,699 (GRCm39)	Q409*	probably null	Het
Cd244a	T	C	1: 171,404,889 (GRCm39)	V247A	probably damaging	Het
Ceacam12	T	A	7: 17,803,326 (GRCm39)	I244K	probably damaging	Het
Cmya5	T	C	13: 93,228,698 (GRCm39)	E2130G	probably damaging	Het
Cyp2b23	T	G	7: 26,381,150 (GRCm39)	H69P	probably damaging	Het
Dixdc1	T	C	9: 50,595,253 (GRCm39)	Q183R	probably damaging	Het
Dock10	T	A	1: 80,553,573 (GRCm39)		probably null	Het
Fam20c	T	C	5: 138,752,450 (GRCm39)	F279S	probably damaging	Het
Hcn4	C	T	9: 58,766,327 (GRCm39)	T665I	unknown	Het
Helz2	C	T	2: 180,875,260 (GRCm39)	E1745K	probably damaging	Het
Kdm7a	A	T	6: 39,128,145 (GRCm39)		probably null	Het
Ksr1	A	C	11: 78,910,490 (GRCm39)	L814R	possibly damaging	Het
Lmnb1	A	G	18: 56,876,310 (GRCm39)	I473V	probably benign	Het
Mllt3	T	C	4: 87,759,445 (GRCm39)	K201R	probably damaging	Het
Myo1b	C	T	1: 51,823,666 (GRCm39)	C413Y	probably damaging	Het
Myom3	A	T	4: 135,533,362 (GRCm39)	N1185I	probably benign	Het
Nrde2	A	G	12: 100,098,565 (GRCm39)	S701P	probably benign	Het
Ntn4	A	T	10: 93,480,723 (GRCm39)	D112V	probably damaging	Het
Nup43	T	A	10: 7,550,826 (GRCm39)	V232D	probably damaging	Het
Pcdha6	G	A	18: 37,101,113 (GRCm39)	C102Y	probably damaging	Het
Pcdhgb8	T	C	18: 37,895,131 (GRCm39)	L67P	probably damaging	Het
Pkd1l3	A	G	8: 110,358,016 (GRCm39)	H836R	probably damaging	Het
Plekha1	T	A	7: 130,479,512 (GRCm39)	I10N	probably benign	Het
Prss29	A	G	17: 25,540,084 (GRCm39)	T161A	possibly damaging	Het
Psmb5	C	A	14: 54,854,130 (GRCm39)	R116L	probably damaging	Het
Rsf1	A	AGGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Secisbp2	C	T	13: 51,833,923 (GRCm39)	H688Y	probably damaging	Het
Senp5	A	G	16: 31,802,665 (GRCm39)	Y508H	probably damaging	Het
Shc3	T	A	13: 51,605,651 (GRCm39)	T210S	possibly damaging	Het
Slc27a2	G	A	2: 126,429,800 (GRCm39)	V467M	probably damaging	Het
Slc27a5	T	A	7: 12,724,899 (GRCm39)	E487V	possibly damaging	Het
Snx1	T	C	9: 66,001,930 (GRCm39)	T298A	possibly damaging	Het
Trir	A	G	8: 85,753,643 (GRCm39)	D39G	possibly damaging	Het
Ubd	C	T	17: 37,506,242 (GRCm39)	Q43*	probably null	Het
Ube2o	T	C	11: 116,432,194 (GRCm39)	E924G	probably damaging	Het
Vps13a	T	C	19: 16,659,578 (GRCm39)	I1650V	possibly damaging	Het
Xirp2	C	A	2: 67,346,425 (GRCm39)	R2889S	probably benign	Het
Zfp804b	T	C	5: 6,820,534 (GRCm39)	E843G	probably benign	Het

Other mutations in Bfar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Bfar	APN	16	13,516,827 (GRCm39)	missense	probably benign	0.03
IGL01067:Bfar	APN	16	13,503,105 (GRCm39)	missense	probably damaging	1.00
IGL01532:Bfar	APN	16	13,505,251 (GRCm39)	splice site	probably benign
IGL02727:Bfar	APN	16	13,506,791 (GRCm39)	critical splice donor site	probably null
IGL03189:Bfar	APN	16	13,505,365 (GRCm39)	missense	possibly damaging	0.89
R1167:Bfar	UTSW	16	13,516,758 (GRCm39)	missense	possibly damaging	0.92
R1213:Bfar	UTSW	16	13,505,308 (GRCm39)	missense	possibly damaging	0.89
R1620:Bfar	UTSW	16	13,506,710 (GRCm39)	missense	probably damaging	1.00
R1951:Bfar	UTSW	16	13,519,970 (GRCm39)	missense	probably damaging	0.99
R2193:Bfar	UTSW	16	13,515,335 (GRCm39)	missense	probably benign
R4578:Bfar	UTSW	16	13,505,307 (GRCm39)	missense	probably benign	0.20
R4789:Bfar	UTSW	16	13,503,001 (GRCm39)	start codon destroyed	probably null	0.99
R4819:Bfar	UTSW	16	13,505,331 (GRCm39)	nonsense	probably null
R5271:Bfar	UTSW	16	13,510,261 (GRCm39)	intron	probably benign
R7186:Bfar	UTSW	16	13,510,371 (GRCm39)	missense	probably benign
R7758:Bfar	UTSW	16	13,519,985 (GRCm39)	missense	possibly damaging	0.66
X0021:Bfar	UTSW	16	13,505,451 (GRCm39)	missense	probably benign	0.25
Z1088:Bfar	UTSW	16	13,515,324 (GRCm39)	missense	probably damaging	0.99
Z1177:Bfar	UTSW	16	13,506,674 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACATGCTAGGAGCTGGAGAC -3'
(R):5'- GGTAGAAACGAGTCCCTTGTCTC -3'

Sequencing Primer
(F):5'- AGACTGGTAAGGCAGAGTGTTTCC -3'
(R):5'- AAACGAGTCCCTTGTCTCTTTGAATG -3'

Posted On

2018-04-27