Mutagenetix > Incidental Mutation

Incidental Mutation 'R1927:Brf1'

214977

Institutional Source

Beutler Lab

Gene Symbol

Brf1

Ensembl Gene

ENSMUSG00000011158

Gene Name

BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit

Synonyms

2510002F24Rik, TFIIIB90, GTF3B, TAF3C, TAFIII90

MMRRC Submission

039945-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R1927 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

112923705-112964324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 112963964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 5 (V5F)

Ref Sequence

ENSEMBL: ENSMUSP00000011302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011302]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000011302
AA Change: V5F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000011302
Gene: ENSMUSG00000011158
AA Change: V5F

Domain	Start	End	E-Value	Type
Pfam:TF_Zn_Ribbon	4	46	4.3e-17	PFAM
CYCLIN	91	172	1.93e-12	SMART
CYCLIN	185	269	1.22e-9	SMART
coiled coil region	298	334	N/A	INTRINSIC
low complexity region	362	374	N/A	INTRINSIC
low complexity region	431	444	N/A	INTRINSIC
Pfam:BRF1	452	545	3.3e-29	PFAM
low complexity region	638	650	N/A	INTRINSIC
low complexity region	662	675	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180971

SMART Domains

Protein: ENSMUSP00000138066
Gene: ENSMUSG00000097100

Domain	Start	End	E-Value	Type
low complexity region	40	52	N/A	INTRINSIC
low complexity region	77	85	N/A	INTRINSIC
low complexity region	101	115	N/A	INTRINSIC
low complexity region	120	182	N/A	INTRINSIC
low complexity region	189	200	N/A	INTRINSIC
low complexity region	244	261	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223037

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

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 three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,613,338 (GRCm39)	S31P	probably damaging	Het
Abca12	G	T	1: 71,283,999 (GRCm39)	H2524Q	probably damaging	Het
Acsl5	T	C	19: 55,266,586 (GRCm39)	V135A	probably benign	Het
Actl11	T	G	9: 107,806,736 (GRCm39)	L353R	possibly damaging	Het
Adcy6	G	T	15: 98,496,379 (GRCm39)		probably null	Het
B230104I21Rik	A	G	4: 154,425,694 (GRCm39)	I697T	probably damaging	Het
BC061237	G	A	14: 44,738,700 (GRCm39)	R33K	possibly damaging	Het
Chmp2a	C	T	7: 12,767,863 (GRCm39)	A21T	possibly damaging	Het
Cwh43	A	G	5: 73,610,417 (GRCm39)	N607S	probably benign	Het
Ddhd2	G	A	8: 26,231,688 (GRCm39)	L445F	possibly damaging	Het
Dicer1	C	A	12: 104,669,143 (GRCm39)	D1180Y	possibly damaging	Het
Dnaaf4	A	T	9: 72,867,909 (GRCm39)	I57L	probably damaging	Het
Dock5	A	T	14: 68,083,511 (GRCm39)	S133T	possibly damaging	Het
Efs	A	T	14: 55,154,620 (GRCm39)	C540S	possibly damaging	Het
Ehd4	C	T	2: 119,921,973 (GRCm39)	G428S	probably benign	Het
Eml1	C	T	12: 108,504,476 (GRCm39)	R812*	probably null	Het
Enpp1	C	T	10: 24,530,786 (GRCm39)	D557N	possibly damaging	Het
Fn3krp	A	G	11: 121,315,803 (GRCm39)	T65A	probably damaging	Het
Galnt5	A	G	2: 57,888,615 (GRCm39)	R72G	probably benign	Het
Gfod1	C	T	13: 43,354,336 (GRCm39)	R213H	possibly damaging	Het
Gm10518	A	G	1: 179,631,210 (GRCm39)		probably benign	Het
Gm5431	A	G	11: 48,780,082 (GRCm39)	F558S	probably damaging	Het
Got1	C	T	19: 43,504,119 (GRCm39)		probably null	Het
Gucy2g	C	T	19: 55,226,191 (GRCm39)	V242I	probably benign	Het
Hdgfl2	T	A	17: 56,406,874 (GRCm39)	V606E	possibly damaging	Het
Hoxa3	T	C	6: 52,146,979 (GRCm39)		probably benign	Het
Iqub	T	A	6: 24,491,670 (GRCm39)	I339L	probably benign	Het
Kdm4c	C	T	4: 74,263,720 (GRCm39)	T668I	probably benign	Het
Klhl32	T	C	4: 24,617,474 (GRCm39)	I592V	probably benign	Het
Mfsd12	G	T	10: 81,197,921 (GRCm39)	M296I	probably benign	Het
Mfsd4b4	C	T	10: 39,768,437 (GRCm39)	A219T	probably damaging	Het
Mrpl52	T	C	14: 54,664,414 (GRCm39)	S9P	possibly damaging	Het
Nbr1	A	G	11: 101,458,040 (GRCm39)	Y273C	possibly damaging	Het
Ncf4	G	T	15: 78,144,846 (GRCm39)	G217V	probably damaging	Het
Neo1	T	C	9: 58,897,668 (GRCm39)	E96G	probably benign	Het
Nid2	T	A	14: 19,818,344 (GRCm39)	N279K	probably damaging	Het
Nr5a2	A	G	1: 136,872,732 (GRCm39)	Y56H	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Nynrin	A	G	14: 56,101,049 (GRCm39)	T280A	probably benign	Het
Or1o2	A	G	17: 37,542,434 (GRCm39)	Y276H	probably damaging	Het
Or2b28	T	A	13: 21,531,116 (GRCm39)	I6N	probably benign	Het
Or2w2	A	G	13: 21,758,426 (GRCm39)	F67L	probably benign	Het
Or55b10	A	G	7: 102,143,266 (GRCm39)	S239P	possibly damaging	Het
Or5b109	T	C	19: 13,212,393 (GRCm39)	Y260H	probably damaging	Het
Otog	G	A	7: 45,895,707 (GRCm39)	C107Y	probably damaging	Het
Ptprn	A	G	1: 75,230,766 (GRCm39)	V565A	probably benign	Het
Rbm6	T	G	9: 107,730,102 (GRCm39)	D182A	probably damaging	Het
Rhbg	A	G	3: 88,151,859 (GRCm39)	F400L	probably benign	Het
Rpl22l1	T	A	3: 28,860,738 (GRCm39)	N33K	possibly damaging	Het
Rtp1	T	A	16: 23,249,959 (GRCm39)	I108N	probably damaging	Het
Sema6b	A	T	17: 56,439,797 (GRCm39)	F15I	probably benign	Het
Sirpa	C	T	2: 129,458,296 (GRCm39)	T304I	possibly damaging	Het
Slc22a29	A	G	19: 8,184,430 (GRCm39)	I257T	probably benign	Het
Slc41a1	T	C	1: 131,768,938 (GRCm39)	I256T	probably damaging	Het
Smg6	A	G	11: 75,033,674 (GRCm39)	K1208R	probably damaging	Het
Sorcs1	G	T	19: 50,210,633 (GRCm39)	P744Q	probably damaging	Het
Sptbn5	T	C	2: 119,900,943 (GRCm39)	T213A	probably benign	Het
St18	A	G	1: 6,872,936 (GRCm39)	T224A	probably benign	Het
Stat3	T	C	11: 100,785,655 (GRCm39)	N465S	probably damaging	Het
Stmn2	T	A	3: 8,610,636 (GRCm39)	M40K	probably benign	Het
Tespa1	A	G	10: 130,184,108 (GRCm39)	D63G	probably benign	Het
Thrb	T	A	14: 18,008,674 (GRCm38)	C133S	probably damaging	Het
Tmem25	C	T	9: 44,707,780 (GRCm39)	V172M	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trhde	T	A	10: 114,636,754 (GRCm39)	Y151F	probably damaging	Het
Trp53bp2	A	G	1: 182,280,229 (GRCm39)	T912A	probably damaging	Het
Unc79	C	A	12: 103,135,951 (GRCm39)	A2269E	probably damaging	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het
Zfp758	T	G	17: 22,594,823 (GRCm39)	S436R	probably damaging	Het
Zfp791	G	T	8: 85,837,312 (GRCm39)	T184K	probably benign	Het
Znrf3	A	G	11: 5,231,062 (GRCm39)	V817A	probably benign	Het

Other mutations in Brf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Brf1	APN	12	112,927,220 (GRCm39)	splice site	probably benign
IGL01609:Brf1	APN	12	112,927,211 (GRCm39)	missense	probably damaging	1.00
IGL01610:Brf1	APN	12	112,951,703 (GRCm39)	missense	probably benign
IGL01622:Brf1	APN	12	112,924,795 (GRCm39)	missense	probably benign	0.02
IGL01623:Brf1	APN	12	112,924,795 (GRCm39)	missense	probably benign	0.02
IGL01791:Brf1	APN	12	112,926,095 (GRCm39)	missense	probably benign	0.00
IGL02037:Brf1	APN	12	112,956,682 (GRCm39)	critical splice donor site	probably null
IGL02227:Brf1	APN	12	112,925,394 (GRCm39)	missense	probably damaging	1.00
R0106:Brf1	UTSW	12	112,937,083 (GRCm39)	unclassified	probably benign
R0106:Brf1	UTSW	12	112,937,083 (GRCm39)	unclassified	probably benign
R0138:Brf1	UTSW	12	112,924,759 (GRCm39)	missense	probably damaging	0.99
R1345:Brf1	UTSW	12	112,924,728 (GRCm39)	critical splice donor site	probably null
R1370:Brf1	UTSW	12	112,924,728 (GRCm39)	critical splice donor site	probably null
R2423:Brf1	UTSW	12	112,963,819 (GRCm39)	missense	probably benign	0.17
R3608:Brf1	UTSW	12	112,924,894 (GRCm39)	missense	probably benign	0.00
R3703:Brf1	UTSW	12	112,932,991 (GRCm39)	splice site	probably null
R4033:Brf1	UTSW	12	112,943,352 (GRCm39)	missense	probably damaging	1.00
R4817:Brf1	UTSW	12	112,935,921 (GRCm39)	missense	probably damaging	0.99
R4897:Brf1	UTSW	12	112,929,507 (GRCm39)	missense	probably benign	0.05
R4985:Brf1	UTSW	12	112,932,990 (GRCm39)	splice site	probably null
R5092:Brf1	UTSW	12	112,943,352 (GRCm39)	missense	probably damaging	1.00
R7138:Brf1	UTSW	12	112,933,835 (GRCm39)	missense	probably damaging	1.00
R7187:Brf1	UTSW	12	112,923,945 (GRCm39)	missense	unknown
R7726:Brf1	UTSW	12	112,927,865 (GRCm39)	missense	probably benign
R7970:Brf1	UTSW	12	112,927,820 (GRCm39)	missense	probably damaging	1.00
R8719:Brf1	UTSW	12	112,943,304 (GRCm39)	critical splice donor site	probably benign
R8897:Brf1	UTSW	12	112,951,589 (GRCm39)	missense	probably damaging	1.00
R8967:Brf1	UTSW	12	112,937,239 (GRCm39)	missense	probably damaging	1.00
R9109:Brf1	UTSW	12	112,927,011 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACAGGACGACCTACTTCAG -3'
(R):5'- GAGTTCCTTTATCGGTCCCG -3'

Sequencing Primer
(F):5'- ACAGGACGACCTACTTCAGTTTCC -3'
(R):5'- TTTATCGGTCCCGCGGGC -3'

Posted On

2014-07-14