Mutagenetix > Incidental Mutations

Incidental Mutation 'R4819:Bfar'

370078

Institutional Source

Beutler Lab

Gene Symbol

Bfar

Ensembl Gene

ENSMUSG00000022684

Gene Name

bifunctional apoptosis regulator

Synonyms

3010001A07Rik, RNF47

MMRRC Submission

042000-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R4819 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13671858-13703612 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 13687467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 114 (Q114*)

Ref Sequence

ENSEMBL: ENSMUSP00000115585 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000023365
AA Change: Q114*

SMART Domains

Protein: ENSMUSP00000023365
Gene: ENSMUSG00000022684
AA Change: Q114*

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 null
Transcript: ENSMUST00000127973
AA Change: Q114*

SMART Domains

Protein: ENSMUSP00000115585
Gene: ENSMUSG00000022684
AA Change: Q114*

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

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,290,421	N761K	possibly damaging	Het
Adgrf3	T	A	5: 30,198,444	L444F	possibly damaging	Het
Akap8	G	A	17: 32,312,305	R378W	probably damaging	Het
Amotl2	C	T	9: 102,730,071	R693W	probably damaging	Het
As3mt	G	T	19: 46,707,529		probably benign	Het
Atp6v1e2	A	G	17: 86,944,538	V144A	probably benign	Het
Casd1	C	T	6: 4,621,225	A261V	probably damaging	Het
Ccdc36	A	G	9: 108,406,678	V189A	probably benign	Het
Cd177	A	T	7: 24,752,271	I440K	probably damaging	Het
Cfap54	G	T	10: 92,836,477	Y2910*	probably null	Het
Csl	A	G	10: 99,758,082	F374L	possibly damaging	Het
Dctn1	G	A	6: 83,190,519	R275H	probably damaging	Het
Derl3	A	G	10: 75,893,879		probably null	Het
Dst	A	G	1: 33,968,835	I117V	probably benign	Het
Edc3	T	A	9: 57,748,397	C477S	possibly damaging	Het
Efs	T	C	14: 54,917,153	E450G	probably damaging	Het
Fcrla	T	A	1: 170,920,939	I212F	probably damaging	Het
Fsip2	A	G	2: 82,988,442	I4840V	probably benign	Het
Gm14025	G	T	2: 129,040,801	N98K	probably damaging	Het
Gpam	T	A	19: 55,078,341	I581F	probably benign	Het
Greb1l	A	G	18: 10,458,358	D45G	probably damaging	Het
Heca	A	G	10: 17,908,072	Y478H	probably damaging	Het
Hspa9	C	T	18: 34,939,388	M561I	probably damaging	Het
Hyal6	T	A	6: 24,734,966	Y299*	probably null	Het
Ik	T	A	18: 36,753,257		probably null	Het
Khsrp	A	G	17: 57,023,360	S582P	possibly damaging	Het
Kif18a	A	G	2: 109,292,126	D182G	probably damaging	Het
Krt2	T	C	15: 101,811,544	T564A	unknown	Het
Lig4	A	G	8: 9,971,885	S632P	probably benign	Het
Med1	C	T	11: 98,155,432		probably benign	Het
Mgat3	T	A	15: 80,212,349	I459N	probably damaging	Het
Mkln1	A	T	6: 31,474,486	Q454L	probably benign	Het
Mn1	A	G	5: 111,419,937	E591G	possibly damaging	Het
Myo5c	T	A	9: 75,292,202	L1364Q	probably damaging	Het
Oas1d	T	C	5: 120,915,717	V80A	probably damaging	Het
Obscn	A	T	11: 59,038,848	D5180E	probably damaging	Het
Pax6	G	A	2: 105,692,277		probably null	Het
Pcdh15	A	C	10: 74,324,389	N446T	probably damaging	Het
Pcnx2	A	T	8: 125,855,230	F922L	probably benign	Het
Ptpn4	G	T	1: 119,659,850	T921K	probably benign	Het
Selenov	A	G	7: 28,290,321		probably null	Het
Tmem100	A	G	11: 90,035,445	T33A	probably benign	Het
Tmem59	C	T	4: 107,187,681	Q66*	probably null	Het
Trav21-dv12	T	A	14: 53,876,613	Y63*	probably null	Het
Trim66	G	T	7: 109,457,586	H1121Q	probably damaging	Het
Trim80	A	G	11: 115,447,943	Y533C	probably damaging	Het
Ttc17	G	A	2: 94,364,610	P520L	probably damaging	Het
Ttn	A	T	2: 76,791,749	V15483E	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het
Zfhx4	C	A	3: 5,403,914	T3069K	probably benign	Het
Zfp281	A	G	1: 136,625,710	H142R	probably benign	Het
Zfp462	G	T	4: 55,060,044	R1190L	probably damaging	Het
Zfp935	T	A	13: 62,454,417	H323L	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
IGL01532:Bfar	APN	16	13687387	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GCTGTTTCCTTAGTGGTAGCAC -3'
(R):5'- AAGAACTGACTTCAGAGGCAAC -3'

Sequencing Primer
(F):5'- AAGCAGAACTCTTTGTTGCTC -3'
(R):5'- AACTGGGGGTTGACGCAC -3'

Posted On

2016-02-04