Mutagenetix > Incidental Mutation

Incidental Mutation 'R8282:Brf2'

638259

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

067705-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R8282 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27613392-27618708 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 27614621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 30 (R30S)

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

silent
Transcript: ENSMUST00000033877

SMART Domains

Protein: ENSMUSP00000033877
Gene: ENSMUSG00000031487

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (57/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	A	1: 165,337,906 (GRCm39)	D173E	probably benign	Het
Ahctf1	T	C	1: 179,605,371 (GRCm39)	D721G	possibly damaging	Het
Allc	T	C	12: 28,607,356 (GRCm39)	T299A	probably damaging	Het
Ankrd55	T	A	13: 112,459,575 (GRCm39)		probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
Bsn	A	G	9: 107,984,890 (GRCm39)	S283P	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ces1d	A	T	8: 93,912,740 (GRCm39)	S233T	possibly damaging	Het
Chst15	T	A	7: 131,871,879 (GRCm39)	H134L	probably benign	Het
Col14a1	A	G	15: 55,284,276 (GRCm39)	T846A	unknown	Het
Cwh43	A	T	5: 73,591,572 (GRCm39)	D555V	probably damaging	Het
Cyld	C	A	8: 89,432,043 (GRCm39)	P14T	probably benign	Het
Dctn1	G	A	6: 83,176,738 (GRCm39)	R1264H	possibly damaging	Het
Dkk3	T	A	7: 111,717,489 (GRCm39)	S327C	probably damaging	Het
Dnmbp	T	G	19: 43,879,005 (GRCm39)	H22P	unknown	Het
Duxf4	T	G	10: 58,072,148 (GRCm39)	Q22P	possibly damaging	Het
Fabp4	T	A	3: 10,270,342 (GRCm39)	T103S	probably benign	Het
Fam43a	T	C	16: 30,420,106 (GRCm39)	L230P	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 75,874,624 (GRCm39)		probably benign	Het
Fank1	T	A	7: 133,478,493 (GRCm39)	Y186N	probably damaging	Het
Fbxo8	G	A	8: 57,044,555 (GRCm39)	R286K	possibly damaging	Het
Fmnl2	G	A	2: 52,997,678 (GRCm39)		probably null	Het
Gli2	T	A	1: 118,765,701 (GRCm39)	S817C	probably damaging	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gstt2	C	G	10: 75,668,291 (GRCm39)	A155P	probably benign	Het
Ints9	T	A	14: 65,244,757 (GRCm39)	M213K	probably benign	Het
Jak1	G	A	4: 101,036,738 (GRCm39)	R301*	probably null	Het
Kdsr	T	C	1: 106,652,727 (GRCm39)	T302A	probably benign	Het
Khsrp	T	C	17: 57,331,123 (GRCm39)	E460G	probably damaging	Het
Larp1b	G	A	3: 40,991,245 (GRCm39)	R193H	probably damaging	Het
Nedd4l	A	G	18: 65,324,560 (GRCm39)	K487R	probably damaging	Het
Niban2	A	G	2: 32,809,029 (GRCm39)	E205G	probably benign	Het
Nwd1	T	A	8: 73,431,580 (GRCm39)	S1193T	probably damaging	Het
Or10ag57	A	T	2: 87,218,852 (GRCm39)	T268S	probably benign	Het
Or5k3	T	A	16: 58,969,529 (GRCm39)	C105*	probably null	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Padi1	T	C	4: 140,542,014 (GRCm39)	H636R	probably damaging	Het
Pdilt	A	G	7: 119,097,293 (GRCm39)	I266T	probably damaging	Het
Rell2	A	T	18: 38,090,665 (GRCm39)	Q114L	probably benign	Het
Rfc1	A	G	5: 65,426,289 (GRCm39)		probably null	Het
Rpia	T	C	6: 70,748,002 (GRCm39)	N265D	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably null	Het
Samd12	T	C	15: 53,723,645 (GRCm39)	D16G	probably damaging	Het
Slc25a54	T	C	3: 109,006,005 (GRCm39)		probably null	Het
Slc6a3	T	A	13: 73,705,200 (GRCm39)	D230E	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Synpo2l	A	G	14: 20,711,204 (GRCm39)	V472A	probably benign	Het
Taf6l	A	G	19: 8,750,714 (GRCm39)	I120T	possibly damaging	Het
Tent5c	A	G	3: 100,380,327 (GRCm39)	V143A	probably damaging	Het
Trappc11	T	C	8: 47,969,624 (GRCm39)	D328G	probably damaging	Het
Trp53bp1	A	G	2: 121,029,523 (GRCm39)	S1836P	probably damaging	Het
Ugt2b37	G	A	5: 87,402,440 (GRCm39)	L64F	probably benign	Het
Vmn2r56	A	T	7: 12,449,601 (GRCm39)	Y212*	probably null	Het
Vps54	T	A	11: 21,250,464 (GRCm39)		probably benign	Het
Zfp268	A	T	4: 145,349,547 (GRCm39)	D328V	possibly damaging	Het
Zfp648	T	A	1: 154,080,535 (GRCm39)	H231Q	probably benign	Het
Zscan4d	T	A	7: 10,896,369 (GRCm39)	T334S	possibly damaging	Het
Zswim9	T	C	7: 12,995,536 (GRCm39)	M207V	probably benign	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
R6965:Brf2	UTSW	8	27,614,586 (GRCm39)	missense	probably benign	0.34
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
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'- CTTCACCTGGCAAACGTCTG -3'

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

Posted On

2020-07-28