Mutagenetix > Incidental Mutation

Incidental Mutation 'R9293:Brf2'

704394

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

068991-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R9293 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27613392-27618708 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27614021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 388 (S388R)

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 damaging
Transcript: ENSMUST00000033877
AA Change: S388R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033877
Gene: ENSMUSG00000031487
AA Change: S388R

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

probably benign
Transcript: ENSMUST00000211236

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

95% (54/57)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,771,839 (GRCm39)	S343P	possibly damaging	Het
4930563M21Rik	T	A	9: 55,916,568 (GRCm39)	E36D	unknown	Het
Abcc8	T	G	7: 45,756,092 (GRCm39)	K1450T	probably benign	Het
Aox1	A	T	1: 58,361,953 (GRCm39)	N720Y	possibly damaging	Het
BC034090	T	C	1: 155,101,518 (GRCm39)	T249A	probably benign	Het
Ccdc180	A	T	4: 45,944,461 (GRCm39)	Q1437L	probably damaging	Het
Cdc42ep1	A	C	15: 78,734,025 (GRCm39)	D375A	probably benign	Het
Cep85l	T	C	10: 53,174,282 (GRCm39)	Y487C	probably damaging	Het
Cfap299	C	T	5: 98,646,162 (GRCm39)	A86V	probably benign	Het
Chd3	C	T	11: 69,244,027 (GRCm39)	R1346H	possibly damaging	Het
Cltc	T	A	11: 86,603,446 (GRCm39)	R793S	possibly damaging	Het
Crat	A	G	2: 30,298,214 (GRCm39)	F162L	probably benign	Het
Cyp3a44	C	A	5: 145,711,187 (GRCm39)	V495L	probably benign	Het
Dchs2	C	T	3: 83,189,361 (GRCm39)	T1575I	possibly damaging	Het
Ddx60	A	G	8: 62,462,994 (GRCm39)	T1292A	possibly damaging	Het
Dnah12	C	T	14: 26,495,016 (GRCm39)	A109V	probably benign	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Fry	T	C	5: 150,419,297 (GRCm39)	S546P		Het
Hfe	T	C	13: 23,890,792 (GRCm39)	K204E	probably benign	Het
Hibch	T	A	1: 52,952,986 (GRCm39)	Y329N	probably damaging	Het
Irf9	T	G	14: 55,846,247 (GRCm39)	I426S	probably damaging	Het
Kif26a	C	A	12: 112,112,835 (GRCm39)	P13T	probably damaging	Het
Lhx5	A	C	5: 120,570,451 (GRCm39)	K36Q	probably benign	Het
Mdn1	T	C	4: 32,707,579 (GRCm39)	S1623P	probably damaging	Het
Mre11a	T	C	9: 14,710,884 (GRCm39)	F193L	probably damaging	Het
Mybl2	G	A	2: 162,910,135 (GRCm39)	G187E	probably damaging	Het
Myh1	A	T	11: 67,099,929 (GRCm39)	Q613L	probably benign	Het
Myo5a	T	A	9: 75,087,312 (GRCm39)	M1056K	probably benign	Het
Or1e16	T	C	11: 73,285,955 (GRCm39)	K298E	probably damaging	Het
Or4a27	G	A	2: 88,559,799 (GRCm39)	T48I	probably benign	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Or8b3b	T	C	9: 38,584,414 (GRCm39)	I109V	probably damaging	Het
Pcdhga12	G	A	18: 37,900,940 (GRCm39)	V591M	probably damaging	Het
Phyhipl	A	G	10: 70,401,116 (GRCm39)	S161P	probably damaging	Het
Pmfbp1	A	G	8: 110,263,205 (GRCm39)	T775A	probably benign	Het
Pou3f3	T	C	1: 42,736,682 (GRCm39)	V126A	unknown	Het
Reg4	A	C	3: 98,143,631 (GRCm39)	K142Q	possibly damaging	Het
Rimoc1	T	C	15: 4,021,336 (GRCm39)	D73G	probably damaging	Het
Sec22c	G	T	9: 121,517,314 (GRCm39)	A199E	probably damaging	Het
Sema3d	C	T	5: 12,603,181 (GRCm39)	P395S	probably damaging	Het
Sh2b2	C	T	5: 136,260,893 (GRCm39)	E108K	possibly damaging	Het
Slfn3	A	G	11: 83,105,616 (GRCm39)	K538E	possibly damaging	Het
Spatc1l	A	T	10: 76,405,200 (GRCm39)	D194V	probably damaging	Het
Stoml3	T	C	3: 53,408,185 (GRCm39)	V77A	possibly damaging	Het
Taco1	A	G	11: 105,963,930 (GRCm39)	I230V	probably benign	Het
Tfcp2	T	C	15: 100,411,934 (GRCm39)	T346A	probably benign	Het
Tmem8b	C	T	4: 43,686,188 (GRCm39)	T273M	probably damaging	Het
Trav6-1	A	G	14: 52,876,299 (GRCm39)	N73S	probably benign	Het
Trav6d-5	A	G	14: 53,033,060 (GRCm39)	D103G	probably damaging	Het
Ttll5	T	A	12: 85,937,806 (GRCm39)	L379Q	probably damaging	Het
Ube3c	T	A	5: 29,803,846 (GRCm39)		probably benign	Het
Ubr3	A	C	2: 69,727,769 (GRCm39)	D44A	probably benign	Het
Upp2	G	T	2: 58,457,443 (GRCm39)	R5L	unknown	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r17	C	T	5: 109,600,712 (GRCm39)	T670I	probably damaging	Het
Zfp433	A	T	10: 81,556,122 (GRCm39)	H208L	probably damaging	Het
Zfp616	A	T	11: 73,974,744 (GRCm39)	I429F	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
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
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
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'- ATTTCTTGCAACACAACAGGC -3'
(R):5'- ACGGCTTTTCGAGATGGAAC -3'

Sequencing Primer
(F):5'- CAGGCCTGTTAATAAATTGCAGTCAG -3'
(R):5'- TGGAGACCCAGCAGCAG -3'

Posted On

2022-03-25