Mutagenetix > Incidental Mutation

Incidental Mutation 'R6965:Brf2'

541948

Institutional Source

Beutler Lab

Gene Symbol

Brf2

Ensembl Gene

ENSMUSG00000031487

Gene Name

BRF2, RNA polymerase III transcription initiation factor 50kDa subunit

Synonyms

5730512K07Rik, TFIIIB50, 2700059M06Rik, BRFU

MMRRC Submission

045075-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R6965 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27613392-27618708 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27614586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 200 (M200K)

Ref Sequence

ENSEMBL: ENSMUSP00000033877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033876] [ENSMUST00000033877] [ENSMUST00000178514] [ENSMUST00000179351] [ENSMUST00000209770] [ENSMUST00000210552] [ENSMUST00000211151]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000033876

SMART Domains

Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
LRR	82	106	1.06e2	SMART
LRR_TYP	107	130	2.71e-2	SMART
LRR_TYP	131	154	1.28e-3	SMART
LRR	155	178	7.38e1	SMART
LRRCT	190	240	4.63e-6	SMART
IG	253	346	3.49e-3	SMART
low complexity region	629	639	N/A	INTRINSIC
low complexity region	663	674	N/A	INTRINSIC
Pfam:GPS	709	750	1.1e-7	PFAM
Pfam:7tm_2	770	990	5.3e-13	PFAM
transmembrane domain	1016	1038	N/A	INTRINSIC
transmembrane domain	1045	1064	N/A	INTRINSIC
low complexity region	1075	1095	N/A	INTRINSIC
low complexity region	1110	1129	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000033877
AA Change: M200K

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000033877
Gene: ENSMUSG00000031487
AA Change: M200K

Domain	Start	End	E-Value	Type
Pfam:TF_Zn_Ribbon	6	42	5.7e-11	PFAM
SCOP:d1aisb1	73	167	1e-12	SMART
Blast:CYCLIN	74	158	2e-51	BLAST
Blast:CYCLIN	171	275	6e-61	BLAST
low complexity region	322	336	N/A	INTRINSIC
low complexity region	355	367	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178514

SMART Domains

Protein: ENSMUSP00000136277
Gene: ENSMUSG00000031486

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
LRR	82	106	4.4e-1	SMART
LRR_TYP	107	130	1.1e-4	SMART
LRR_TYP	131	154	5.3e-6	SMART
LRR	155	178	3.1e-1	SMART
LRRCT	190	240	2.2e-8	SMART
IG	253	346	1.4e-5	SMART
HormR	349	426	1.8e-4	SMART
Pfam:7tm_2	554	775	3.2e-11	PFAM
transmembrane domain	801	823	N/A	INTRINSIC
transmembrane domain	830	849	N/A	INTRINSIC
low complexity region	860	880	N/A	INTRINSIC
low complexity region	895	914	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179207

Predicted Effect

probably benign
Transcript: ENSMUST00000179351

SMART Domains

Protein: ENSMUSP00000137457
Gene: ENSMUSG00000031486

Domain	Start	End	E-Value	Type
Pfam:GPS	5	49	4.5e-11	PFAM
transmembrane domain	67	89	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209770

Predicted Effect

probably benign
Transcript: ENSMUST00000210552

Predicted Effect

probably benign
Transcript: ENSMUST00000211151

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,882,452 (GRCm39)	Q1205*	probably null	Het
Als2	A	G	1: 59,209,716 (GRCm39)	F1422S	possibly damaging	Het
Anapc4	T	C	5: 52,993,093 (GRCm39)	V68A	possibly damaging	Het
Atmin	T	C	8: 117,683,777 (GRCm39)	F479S	probably damaging	Het
Atp7b	T	C	8: 22,518,101 (GRCm39)	T234A	probably benign	Het
Bpifa1	G	A	2: 153,987,581 (GRCm39)	G144S	probably damaging	Het
C1ql2	G	A	1: 120,268,944 (GRCm39)	C33Y	probably damaging	Het
Cdk18	A	G	1: 132,045,319 (GRCm39)	V269A	probably damaging	Het
Clcc1	T	C	3: 108,580,625 (GRCm39)	V313A	probably damaging	Het
Cntrl	A	T	2: 35,052,845 (GRCm39)	T1117S	probably benign	Het
Col15a1	G	A	4: 47,247,533 (GRCm39)	E236K	probably damaging	Het
Comp	T	C	8: 70,829,164 (GRCm39)	L278P	probably damaging	Het
Csnk2a1-ps3	C	T	1: 156,352,119 (GRCm39)	R107*	probably null	Het
Dlg5	C	A	14: 24,199,498 (GRCm39)	D1469Y	probably damaging	Het
Efna1	A	T	3: 89,186,782 (GRCm39)	V23D	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epb41l4b	T	C	4: 57,040,915 (GRCm39)	Y516C	probably damaging	Het
Esr2	T	C	12: 76,168,631 (GRCm39)	D526G	probably damaging	Het
Fam184b	T	C	5: 45,712,477 (GRCm39)	T514A	probably benign	Het
Fcmr	A	C	1: 130,803,724 (GRCm39)	E176A	possibly damaging	Het
Fry	T	A	5: 150,339,685 (GRCm39)	N1485K	possibly damaging	Het
Fut2	A	G	7: 45,300,305 (GRCm39)	C156R	probably damaging	Het
Gm5431	T	C	11: 48,786,027 (GRCm39)	Y116C	probably benign	Het
Gm5493	T	A	17: 22,967,047 (GRCm39)	V61E	possibly damaging	Het
Golga4	A	T	9: 118,377,847 (GRCm39)	Q456L	probably damaging	Het
Gpam	T	C	19: 55,063,041 (GRCm39)	Y757C	probably damaging	Het
Iqcg	C	T	16: 32,851,174 (GRCm39)	A266T	probably benign	Het
Lta4h	G	T	10: 93,307,759 (GRCm39)	G331*	probably null	Het
Macf1	C	A	4: 123,302,538 (GRCm39)	V655F	probably benign	Het
Map3k13	T	A	16: 21,740,900 (GRCm39)	D742E	probably benign	Het
Mrgprb2	G	A	7: 48,202,597 (GRCm39)	L43F	probably damaging	Het
N4bp1	T	C	8: 87,571,461 (GRCm39)	R846G	probably damaging	Het
Nbn	T	C	4: 15,970,863 (GRCm39)	I282T	probably benign	Het
Ncor1	C	T	11: 62,244,059 (GRCm39)		probably null	Het
Or4a77	G	T	2: 89,487,009 (GRCm39)	P259T	probably damaging	Het
Or4d10c	A	G	19: 12,066,120 (GRCm39)	F12S	possibly damaging	Het
Or8b12	T	A	9: 37,657,433 (GRCm39)	M1K	probably null	Het
Pclo	A	G	5: 14,731,976 (GRCm39)		probably benign	Het
Pde9a	G	T	17: 31,662,861 (GRCm39)	V97L	probably benign	Het
Ptch1	T	C	13: 63,672,881 (GRCm39)	Y771C	possibly damaging	Het
R3hcc1l	G	A	19: 42,551,284 (GRCm39)	D94N	probably damaging	Het
Rnpep	T	A	1: 135,190,858 (GRCm39)	K602*	probably null	Het
Rph3al	T	C	11: 75,745,276 (GRCm39)	Y156C	probably damaging	Het
Rundc1	A	T	11: 101,324,737 (GRCm39)	Y481F	possibly damaging	Het
Serpinb9f	A	G	13: 33,509,859 (GRCm39)	K17R	possibly damaging	Het
Smpd3	T	C	8: 106,986,513 (GRCm39)	H459R	probably damaging	Het
Spata31	A	C	13: 65,070,648 (GRCm39)	Q932P	possibly damaging	Het
Srgap3	C	T	6: 112,700,090 (GRCm39)	A963T	probably damaging	Het
Syne1	A	T	10: 5,179,120 (GRCm39)	F4451L	possibly damaging	Het
Tbc1d19	T	A	5: 54,014,266 (GRCm39)		probably null	Het
Thap12	T	A	7: 98,364,669 (GRCm39)	V279D	probably damaging	Het
Tmprss6	T	C	15: 78,328,328 (GRCm39)	D544G	probably damaging	Het
Tox2	A	G	2: 163,164,930 (GRCm39)	*523W	probably null	Het
Txnrd1	T	C	10: 82,717,652 (GRCm39)	I212T	probably benign	Het
Unc80	T	C	1: 66,685,725 (GRCm39)	I2283T	probably benign	Het
Vmn1r176	A	G	7: 23,535,099 (GRCm39)	I18T	possibly damaging	Het
Vmn2r101	C	T	17: 19,811,284 (GRCm39)	T456I	probably benign	Het
Vmn2r79	T	A	7: 86,651,100 (GRCm39)	H166Q	probably benign	Het
Zer1	A	G	2: 29,991,059 (GRCm39)	V723A	possibly damaging	Het

Other mutations in Brf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03371:Brf2	APN	8	27,615,872 (GRCm39)	missense	probably benign	0.11
R0179:Brf2	UTSW	8	27,615,896 (GRCm39)	missense	possibly damaging	0.73
R0615:Brf2	UTSW	8	27,614,059 (GRCm39)	missense	probably benign	0.00
R1066:Brf2	UTSW	8	27,613,974 (GRCm39)	missense	probably benign	0.34
R1882:Brf2	UTSW	8	27,618,577 (GRCm39)	missense	probably damaging	1.00
R3766:Brf2	UTSW	8	27,614,496 (GRCm39)	missense	possibly damaging	0.50
R5546:Brf2	UTSW	8	27,614,311 (GRCm39)	missense	possibly damaging	0.67
R5716:Brf2	UTSW	8	27,616,074 (GRCm39)	missense	probably benign
R7903:Brf2	UTSW	8	27,616,121 (GRCm39)	missense	possibly damaging	0.77
R7923:Brf2	UTSW	8	27,614,218 (GRCm39)	nonsense	probably null
R8184:Brf2	UTSW	8	27,614,013 (GRCm39)	missense	possibly damaging	0.81
R8282:Brf2	UTSW	8	27,614,621 (GRCm39)	missense
R8365:Brf2	UTSW	8	27,618,566 (GRCm39)	missense	possibly damaging	0.91
R8704:Brf2	UTSW	8	27,618,499 (GRCm39)	missense	possibly damaging	0.84
R8848:Brf2	UTSW	8	27,616,140 (GRCm39)	missense	probably benign
R9293:Brf2	UTSW	8	27,614,021 (GRCm39)	missense	probably damaging	1.00
R9548:Brf2	UTSW	8	27,614,623 (GRCm39)	missense	probably benign	0.02
X0026:Brf2	UTSW	8	27,616,079 (GRCm39)	missense	probably benign
Z1088:Brf2	UTSW	8	27,614,019 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCCACATTCGCCAATTTAC -3'
(R):5'- AGGCGCTCAACTCTGTTAGTG -3'

Sequencing Primer
(F):5'- TTCGCCAATTTACAAAACTGGGC -3'
(R):5'- TCACCTGGCAAACGTCTG -3'

Posted On

2018-11-28