Mutagenetix > Incidental Mutation

Incidental Mutation 'R1167:Bfar'

101211

Institutional Source

Beutler Lab

Gene Symbol

Bfar

Ensembl Gene

ENSMUSG00000022684

Gene Name

bifunctional apoptosis regulator

Synonyms

3010001A07Rik, RNF47

MMRRC Submission

039240-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R1167 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13671858-13703612 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13698894 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 202 (K202E)

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 benign
Transcript: ENSMUST00000023365
AA Change: K327E

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000023365
Gene: ENSMUSG00000022684
AA Change: K327E

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

possibly damaging
Transcript: ENSMUST00000069281
AA Change: K202E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063371
Gene: ENSMUSG00000022684
AA Change: K202E

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,579 (GRCm38)	D315V	probably damaging	Het
4931440F15Rik	C	T	11: 29,823,567 (GRCm38)	R630H	probably damaging	Het
Acr	T	C	15: 89,573,974 (GRCm38)	I286T	probably damaging	Het
Adnp	A	G	2: 168,184,500 (GRCm38)	S292P	probably benign	Het
Apol6	T	A	15: 77,047,108 (GRCm38)	Y17*	probably null	Het
Arhgap22	A	G	14: 33,343,307 (GRCm38)		probably null	Het
Bmpr2	A	T	1: 59,859,304 (GRCm38)	S470C	probably damaging	Het
Cep135	A	G	5: 76,624,637 (GRCm38)	E623G	probably damaging	Het
Clcn3	A	G	8: 60,922,788 (GRCm38)		probably null	Het
Clptm1	A	T	7: 19,634,211 (GRCm38)	M523K	probably damaging	Het
Cyp26b1	A	G	6: 84,584,330 (GRCm38)	W117R	probably damaging	Het
Dnmt3c	T	G	2: 153,711,781 (GRCm38)		probably null	Het
Dst	A	G	1: 34,223,858 (GRCm38)	E2212G	probably damaging	Het
Edrf1	A	G	7: 133,644,066 (GRCm38)	T238A	probably benign	Het
Elmo1	T	C	13: 20,185,455 (GRCm38)	V10A	probably damaging	Het
Ermp1	A	G	19: 29,628,679 (GRCm38)	S225P	possibly damaging	Het
Fes	A	T	7: 80,383,109 (GRCm38)	L296Q	probably damaging	Het
Foxn1	A	T	11: 78,359,066 (GRCm38)	N544K	probably damaging	Het
Gga1	C	G	15: 78,888,170 (GRCm38)	N223K	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716 (GRCm38)		probably null	Het
Gm4884	A	T	7: 41,043,912 (GRCm38)	Q435L	possibly damaging	Het
Gm8444	T	C	15: 81,843,380 (GRCm38)		probably benign	Het
Gm8882	G	A	6: 132,361,590 (GRCm38)	P222S	unknown	Het
Ift140	T	G	17: 25,035,745 (GRCm38)	S131A	probably benign	Het
Ipo4	A	G	14: 55,635,020 (GRCm38)	L88P	probably damaging	Het
Itgal	G	A	7: 127,300,939 (GRCm38)	S123N	probably damaging	Het
Kcnn3	C	T	3: 89,564,952 (GRCm38)	Q344*	probably null	Het
Lrrc8e	A	T	8: 4,235,337 (GRCm38)	M521L	probably benign	Het
Myocd	G	T	11: 65,196,377 (GRCm38)	D113E	possibly damaging	Het
Nek4	G	A	14: 30,974,345 (GRCm38)	R499H	possibly damaging	Het
Notch3	T	C	17: 32,122,745 (GRCm38)	D2011G	possibly damaging	Het
Ola1	A	G	2: 73,097,194 (GRCm38)	V347A	probably damaging	Het
Olfr1037	A	G	2: 86,085,291 (GRCm38)	V162A	probably benign	Het
Olfr1339	C	A	4: 118,734,632 (GRCm38)	F34L	possibly damaging	Het
Olfr790	G	A	10: 129,501,150 (GRCm38)	V89I	probably benign	Het
Oxct2b	A	G	4: 123,117,585 (GRCm38)	T433A	probably damaging	Het
P2ry14	T	C	3: 59,115,131 (GRCm38)	R312G	probably damaging	Het
Pbrm1	A	G	14: 31,050,142 (GRCm38)	N398D	probably damaging	Het
Pdc	T	C	1: 150,333,245 (GRCm38)	Y160H	probably damaging	Het
Pdlim2	C	T	14: 70,164,779 (GRCm38)	R296H	probably damaging	Het
Pop4	A	T	7: 38,263,269 (GRCm38)	D190E	probably benign	Het
R3hdm4	A	G	10: 79,912,073 (GRCm38)		probably null	Het
Rab1a	C	A	11: 20,223,172 (GRCm38)	T91K	possibly damaging	Het
Rad9a	A	G	19: 4,197,502 (GRCm38)	V215A	possibly damaging	Het
Rassf3	A	G	10: 121,416,254 (GRCm38)	V84A	probably damaging	Het
Rftn2	G	A	1: 55,204,299 (GRCm38)	T270M	probably damaging	Het
Rho	A	G	6: 115,935,423 (GRCm38)	T100A	probably damaging	Het
Rnft2	T	C	5: 118,228,882 (GRCm38)	I264V	possibly damaging	Het
Robo3	A	T	9: 37,423,907 (GRCm38)	Y567*	probably null	Het
Rpp14	T	A	14: 8,083,705 (GRCm38)		probably null	Het
Rtkn2	T	C	10: 67,997,620 (GRCm38)	S98P	probably damaging	Het
Ryr2	A	G	13: 11,660,113 (GRCm38)	V3376A	possibly damaging	Het
Sbf2	A	T	7: 110,364,549 (GRCm38)	W1030R	probably damaging	Het
Setbp1	G	A	18: 78,857,236 (GRCm38)	A1072V	possibly damaging	Het
Slc4a10	A	G	2: 62,228,574 (GRCm38)	K142E	probably damaging	Het
Slc52a2	A	G	15: 76,539,591 (GRCm38)	E40G	probably benign	Het
Slc8a2	A	G	7: 16,157,387 (GRCm38)	N784S	possibly damaging	Het
Spats2l	A	T	1: 57,943,111 (GRCm38)	Q384L	probably damaging	Het
Steap4	A	C	5: 7,976,520 (GRCm38)	K161T	probably benign	Het
Taf10	T	C	7: 105,743,231 (GRCm38)	S188G	probably benign	Het
Tbc1d4	C	T	14: 101,608,019 (GRCm38)	D148N	probably damaging	Het
Tenm2	T	G	11: 36,864,684 (GRCm38)	K162N	probably benign	Het
Tmem147	A	G	7: 30,727,796 (GRCm38)	V146A	probably benign	Het
Tnfsf8	A	G	4: 63,837,086 (GRCm38)	S100P	possibly damaging	Het
Trim56	T	C	5: 137,112,520 (GRCm38)	Y714C	probably damaging	Het
Ubxn8	A	G	8: 33,641,901 (GRCm38)	S13P	probably damaging	Het
Usp49	A	G	17: 47,672,226 (GRCm38)	D52G	possibly damaging	Het
Vegfc	A	C	8: 54,186,043 (GRCm38)	Y408S	probably benign	Het
Vmn2r77	A	G	7: 86,801,746 (GRCm38)	N280S	probably benign	Het
Vmn2r8	T	A	5: 108,803,176 (GRCm38)	L134F	probably benign	Het
Wdfy3	T	A	5: 101,875,931 (GRCm38)	I2437F	probably benign	Het
Wwc2	A	T	8: 47,858,779 (GRCm38)	L783*	probably null	Het
Zer1	C	T	2: 30,108,246 (GRCm38)	R351H	probably benign	Het
Zfp715	A	T	7: 43,298,437 (GRCm38)	F700I	possibly damaging	Het
Zfp995	G	A	17: 21,879,979 (GRCm38)	H425Y	probably damaging	Het

Other mutations in Bfar

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Bfar	APN	16	13,698,963 (GRCm38)	missense	probably benign	0.03
IGL01067:Bfar	APN	16	13,685,241 (GRCm38)	missense	probably damaging	1.00
IGL01532:Bfar	APN	16	13,687,387 (GRCm38)	splice site	probably benign
IGL02727:Bfar	APN	16	13,688,927 (GRCm38)	critical splice donor site	probably null
IGL03189:Bfar	APN	16	13,687,501 (GRCm38)	missense	possibly damaging	0.89
R1213:Bfar	UTSW	16	13,687,444 (GRCm38)	missense	possibly damaging	0.89
R1620:Bfar	UTSW	16	13,688,846 (GRCm38)	missense	probably damaging	1.00
R1951:Bfar	UTSW	16	13,702,106 (GRCm38)	missense	probably damaging	0.99
R2193:Bfar	UTSW	16	13,697,471 (GRCm38)	missense	probably benign
R4578:Bfar	UTSW	16	13,687,443 (GRCm38)	missense	probably benign	0.20
R4789:Bfar	UTSW	16	13,685,137 (GRCm38)	start codon destroyed	probably null	0.99
R4819:Bfar	UTSW	16	13,687,467 (GRCm38)	nonsense	probably null
R5271:Bfar	UTSW	16	13,692,397 (GRCm38)	intron	probably benign
R6346:Bfar	UTSW	16	13,702,133 (GRCm38)	missense	probably damaging	0.99
R7186:Bfar	UTSW	16	13,692,507 (GRCm38)	missense	probably benign
R7758:Bfar	UTSW	16	13,702,121 (GRCm38)	missense	possibly damaging	0.66
X0021:Bfar	UTSW	16	13,687,587 (GRCm38)	missense	probably benign	0.25
Z1088:Bfar	UTSW	16	13,697,460 (GRCm38)	missense	probably damaging	0.99
Z1177:Bfar	UTSW	16	13,688,810 (GRCm38)	missense	probably benign	0.03

Predicted Primers

Posted On

2014-01-15