Mutagenetix > Incidental Mutation

Incidental Mutation 'R1370:Brf1'

155966

Institutional Source

Beutler Lab

Gene Symbol

Brf1

Ensembl Gene

ENSMUSG00000011158

Gene Name

BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit

Synonyms

GTF3B, 2510002F24Rik, TAFIII90, TFIIIB90, TAF3C

MMRRC Submission

039434-MU

Accession Numbers

Genbank: NM_028193; MGI: 1919558

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R1370 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112960085-113000704 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 112961108 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000011302 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000011302

SMART Domains

Protein: ENSMUSP00000011302
Gene: ENSMUSG00000011158

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: ENSMUST00000221537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221754

Meta Mutation Damage Score

0.9582

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.6%
20x: 84.8%

Validation Efficiency

99% (80/81)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,962,052 (GRCm38)	G495D	probably damaging	Het
Adgra3	T	C	5: 49,960,787 (GRCm38)	I1140V	possibly damaging	Het
Adrb3	A	T	8: 27,227,770 (GRCm38)		probably null	Het
Afap1	A	G	5: 35,935,600 (GRCm38)	D16G	unknown	Het
AI593442	T	C	9: 52,678,008 (GRCm38)	K90E	probably damaging	Het
Aicda	A	T	6: 122,561,185 (GRCm38)	N101Y	probably benign	Het
Alx1	A	G	10: 103,028,492 (GRCm38)	S39P	possibly damaging	Het
Ankrd52	A	G	10: 128,388,696 (GRCm38)	D781G	possibly damaging	Het
Arhgef5	T	A	6: 43,283,912 (GRCm38)	F1424I	probably damaging	Het
Atp10b	G	A	11: 43,151,655 (GRCm38)	W14*	probably null	Het
Bin1	A	G	18: 32,429,703 (GRCm38)	I416V	probably benign	Het
Bptf	A	T	11: 107,047,094 (GRCm38)	S2724T	probably damaging	Het
Ccdc39	T	C	3: 33,826,480 (GRCm38)	K446R	probably damaging	Het
Cd226	T	A	18: 89,247,023 (GRCm38)	S29T	probably benign	Het
Cdan1	A	G	2: 120,719,139 (GRCm38)		probably null	Het
Chaf1a	A	T	17: 56,064,032 (GRCm38)	H639L	probably benign	Het
Chd1	G	A	17: 17,387,480 (GRCm38)	G430D	probably benign	Het
Clca3a2	T	C	3: 144,813,863 (GRCm38)		probably benign	Het
Clptm1	A	G	7: 19,633,872 (GRCm38)	V605A	possibly damaging	Het
Cmpk2	A	G	12: 26,471,452 (GRCm38)	D241G	probably damaging	Het
Cryzl1	A	G	16: 91,692,658 (GRCm38)	V266A	possibly damaging	Het
Cyp2c68	A	G	19: 39,740,956 (GRCm38)	L29P	probably damaging	Het
Dennd3	A	C	15: 73,540,854 (GRCm38)		probably benign	Het
Dennd4c	T	A	4: 86,811,510 (GRCm38)	I783N	probably damaging	Het
Dock10	A	G	1: 80,540,343 (GRCm38)	S1305P	probably damaging	Het
Eml6	T	G	11: 29,833,085 (GRCm38)	S599R	probably benign	Het
Gbp8	C	T	5: 105,016,576 (GRCm38)	A394T	possibly damaging	Het
Gm13023	T	A	4: 143,795,304 (GRCm38)	L497I	possibly damaging	Het
H1fx	A	G	6: 87,981,151 (GRCm38)	I69T	probably damaging	Het
Herc2	T	A	7: 56,168,873 (GRCm38)	C2771S	probably benign	Het
Ism1	A	T	2: 139,732,074 (GRCm38)	I115F	possibly damaging	Het
Itga10	C	T	3: 96,651,738 (GRCm38)		probably benign	Het
Itgb8	C	T	12: 119,171,003 (GRCm38)	G443E	probably benign	Het
Kalrn	T	A	16: 33,975,584 (GRCm38)	I1274F	possibly damaging	Het
Klk11	A	G	7: 43,776,907 (GRCm38)	I22V	probably benign	Het
Krt6b	T	C	15: 101,677,552 (GRCm38)	D362G	probably damaging	Het
Lce1e	A	G	3: 92,707,843 (GRCm38)	S66P	unknown	Het
Letm1	A	T	5: 33,778,682 (GRCm38)		probably null	Het
Lrrcc1	G	T	3: 14,548,114 (GRCm38)	V299L	probably benign	Het
Mettl5	A	T	2: 69,881,420 (GRCm38)		probably null	Het
Mrpl12	A	G	11: 120,485,301 (GRCm38)	S46G	probably benign	Het
Narfl	A	G	17: 25,776,988 (GRCm38)	E62G	probably benign	Het
Ndrg3	T	C	2: 156,938,650 (GRCm38)	E198G	probably damaging	Het
Olfr198	A	G	16: 59,201,680 (GRCm38)	S249P	probably damaging	Het
Pcdh20	A	G	14: 88,468,301 (GRCm38)	I521T	probably benign	Het
Pdzph1	T	C	17: 58,974,087 (GRCm38)	D400G	possibly damaging	Het
Per2	A	T	1: 91,445,557 (GRCm38)	S170T	possibly damaging	Het
Pros1	A	G	16: 62,919,558 (GRCm38)	K457E	probably benign	Het
Rer1	T	A	4: 155,075,624 (GRCm38)	M156L	probably benign	Het
Rerg	A	T	6: 137,057,801 (GRCm38)		probably benign	Het
Sel1l3	G	T	5: 53,200,217 (GRCm38)	H144Q	possibly damaging	Het
Sept2	G	T	1: 93,499,106 (GRCm38)	V146L	probably damaging	Het
Setd1b	C	T	5: 123,160,685 (GRCm38)		probably benign	Het
Sh3bp4	A	T	1: 89,143,772 (GRCm38)	Y114F	probably benign	Het
Slc44a5	C	A	3: 154,243,159 (GRCm38)	T188K	probably benign	Het
Slco6d1	A	C	1: 98,423,094 (GRCm38)	I100L	probably benign	Het
Slfn4	G	T	11: 83,188,806 (GRCm38)	D441Y	probably damaging	Het
Smg1	T	C	7: 118,159,752 (GRCm38)		probably benign	Het
Snrpb2	A	G	2: 143,065,166 (GRCm38)		probably benign	Het
Sspo	T	A	6: 48,448,626 (GRCm38)	S60R	probably benign	Het
Stard9	T	C	2: 120,697,477 (GRCm38)	V1405A	probably benign	Het
Syt1	A	G	10: 108,690,922 (GRCm38)	L42P	probably damaging	Het
Tarbp1	T	C	8: 126,448,330 (GRCm38)	D789G	probably benign	Het
Tbcel	A	T	9: 42,450,062 (GRCm38)	D63E	probably damaging	Het
Tdrd3	A	T	14: 87,458,054 (GRCm38)		probably benign	Het
Tiam1	A	T	16: 89,898,221 (GRCm38)	I116N	probably benign	Het
Tsc22d1	A	G	14: 76,437,664 (GRCm38)		probably benign	Het
Tsga10	G	T	1: 37,835,453 (GRCm38)	T117K	probably damaging	Het
Ttc3	A	G	16: 94,418,637 (GRCm38)	S492G	possibly damaging	Het
Ttn	G	T	2: 76,847,151 (GRCm38)		probably benign	Het
Wasf3	T	C	5: 146,470,208 (GRCm38)		probably benign	Het
Zbtb37	C	T	1: 161,032,022 (GRCm38)	E238K	probably benign	Het
Zfp354c	A	G	11: 50,815,840 (GRCm38)	I136T	probably benign	Het
Zfp384	G	A	6: 125,036,453 (GRCm38)	A479T	probably benign	Het
Zfp646	T	A	7: 127,879,864 (GRCm38)	N404K	probably damaging	Het

Other mutations in Brf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00928:Brf1	APN	12	112,963,600 (GRCm38)	splice site	probably benign
IGL01609:Brf1	APN	12	112,963,591 (GRCm38)	missense	probably damaging	1.00
IGL01610:Brf1	APN	12	112,988,083 (GRCm38)	missense	probably benign
IGL01622:Brf1	APN	12	112,961,175 (GRCm38)	missense	probably benign	0.02
IGL01623:Brf1	APN	12	112,961,175 (GRCm38)	missense	probably benign	0.02
IGL01791:Brf1	APN	12	112,962,475 (GRCm38)	missense	probably benign	0.00
IGL02037:Brf1	APN	12	112,993,062 (GRCm38)	critical splice donor site	probably null
IGL02227:Brf1	APN	12	112,961,774 (GRCm38)	missense	probably damaging	1.00
R0106:Brf1	UTSW	12	112,973,463 (GRCm38)	unclassified	probably benign
R0106:Brf1	UTSW	12	112,973,463 (GRCm38)	unclassified	probably benign
R0138:Brf1	UTSW	12	112,961,139 (GRCm38)	missense	probably damaging	0.99
R1345:Brf1	UTSW	12	112,961,108 (GRCm38)	critical splice donor site	probably null
R1927:Brf1	UTSW	12	113,000,344 (GRCm38)	missense	possibly damaging	0.95
R2423:Brf1	UTSW	12	113,000,199 (GRCm38)	missense	probably benign	0.17
R3608:Brf1	UTSW	12	112,961,274 (GRCm38)	missense	probably benign	0.00
R3703:Brf1	UTSW	12	112,969,371 (GRCm38)	splice site	probably null
R4033:Brf1	UTSW	12	112,979,732 (GRCm38)	missense	probably damaging	1.00
R4817:Brf1	UTSW	12	112,972,301 (GRCm38)	missense	probably damaging	0.99
R4897:Brf1	UTSW	12	112,965,887 (GRCm38)	missense	probably benign	0.05
R4985:Brf1	UTSW	12	112,969,370 (GRCm38)	splice site	probably null
R5092:Brf1	UTSW	12	112,979,732 (GRCm38)	missense	probably damaging	1.00
R7138:Brf1	UTSW	12	112,970,215 (GRCm38)	missense	probably damaging	1.00
R7187:Brf1	UTSW	12	112,960,325 (GRCm38)	missense	unknown
R7726:Brf1	UTSW	12	112,964,245 (GRCm38)	missense	probably benign
R7970:Brf1	UTSW	12	112,964,200 (GRCm38)	missense	probably damaging	1.00
R8719:Brf1	UTSW	12	112,979,684 (GRCm38)	critical splice donor site	probably benign
R8897:Brf1	UTSW	12	112,987,969 (GRCm38)	missense	probably damaging	1.00
R8967:Brf1	UTSW	12	112,973,619 (GRCm38)	missense	probably damaging	1.00
R9109:Brf1	UTSW	12	112,963,391 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCTCATTGCTCTGTGAGCTG -3'
(R):5'- TTAGAGTCAGGAGGATTGCCACCC -3'

Sequencing Primer
(F):5'- gttaagagcactgactaatcttcc -3'
(R):5'- AGGATTGCCACCCTCTGC -3'

Posted On

2014-02-11