Mutagenetix > Incidental Mutation

Incidental Mutation 'R0138:Brf1'

22124

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

038423-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R0138 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

112923705-112964324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112924759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 655 (V655D)

Ref Sequence

ENSEMBL: ENSMUSP00000011302 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000011302
AA Change: V655D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000011302
Gene: ENSMUSG00000011158
AA Change: V655D

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

0.1135

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 92.8%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,899,098 (GRCm39)	N693K	probably damaging	Het
Adgrl3	T	A	5: 81,841,454 (GRCm39)	V845D	probably damaging	Het
Anxa8	T	A	14: 33,819,896 (GRCm39)	F269Y	probably benign	Het
Anxa8	T	A	14: 33,819,897 (GRCm39)	F295L	possibly damaging	Het
Aox4	C	G	1: 58,268,025 (GRCm39)	L202V	probably damaging	Het
Ap3s2	A	G	7: 79,559,617 (GRCm39)	V104A	probably benign	Het
Aqp3	G	A	4: 41,094,843 (GRCm39)		probably benign	Het
Arhgef26	C	T	3: 62,355,680 (GRCm39)	H751Y	probably benign	Het
Asic4	A	T	1: 75,446,331 (GRCm39)	Q291L	possibly damaging	Het
Bap1	T	C	14: 30,978,681 (GRCm39)	Y31H	probably damaging	Het
Cebpz	A	G	17: 79,238,820 (GRCm39)	S663P	probably benign	Het
Ces2h	A	G	8: 105,744,693 (GRCm39)	D357G	probably benign	Het
Cfap36	T	C	11: 29,194,073 (GRCm39)	T90A	probably benign	Het
Ciita	A	T	16: 10,330,134 (GRCm39)	D803V	probably damaging	Het
Clnk	C	A	5: 38,931,951 (GRCm39)		probably benign	Het
Cyp46a1	A	G	12: 108,317,470 (GRCm39)	N158S	probably damaging	Het
Cyp4f13	A	G	17: 33,160,080 (GRCm39)	I98T	possibly damaging	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dll3	T	A	7: 28,000,746 (GRCm39)	D103V	possibly damaging	Het
Dnai1	T	A	4: 41,629,814 (GRCm39)	M446K	possibly damaging	Het
Dppa4	A	T	16: 48,111,425 (GRCm39)	T85S	probably benign	Het
Eif4g1	A	T	16: 20,494,095 (GRCm39)	H57L	probably damaging	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Fn1	T	A	1: 71,663,269 (GRCm39)	Q1073L	possibly damaging	Het
Foxp4	T	C	17: 48,180,104 (GRCm39)	D599G	unknown	Het
Frrs1	T	C	3: 116,675,456 (GRCm39)	V128A	possibly damaging	Het
Gcfc2	G	A	6: 81,926,935 (GRCm39)	D608N	probably damaging	Het
Gm1043	T	C	5: 37,350,317 (GRCm39)		probably benign	Het
Gm5148	T	C	3: 37,768,926 (GRCm39)	E98G	probably benign	Het
Gpr141	T	C	13: 19,936,428 (GRCm39)	I116V	probably benign	Het
Hic1	T	C	11: 75,058,169 (GRCm39)	N240S	probably damaging	Het
Hpx	G	A	7: 105,241,445 (GRCm39)	T322I	probably damaging	Het
Hs3st4	A	T	7: 123,996,416 (GRCm39)	M361L	probably benign	Het
Ifrd1	A	G	12: 40,257,129 (GRCm39)		probably benign	Het
Ino80	G	A	2: 119,213,441 (GRCm39)	R1249C	probably damaging	Het
Klk1b21	T	A	7: 43,755,319 (GRCm39)	C173S	probably damaging	Het
Krt25	A	T	11: 99,213,524 (GRCm39)	V65E	probably benign	Het
Lrrc15	A	T	16: 30,092,267 (GRCm39)	D357E	possibly damaging	Het
Lrrd1	T	A	5: 3,901,345 (GRCm39)	V550E	probably benign	Het
Macf1	A	G	4: 123,334,540 (GRCm39)	Y1490H	probably damaging	Het
Macrod1	A	G	19: 7,174,281 (GRCm39)		probably benign	Het
Mcm5	T	A	8: 75,847,508 (GRCm39)	V435D	probably damaging	Het
Mctp1	C	T	13: 76,975,831 (GRCm39)	R478C	probably damaging	Het
Med10	T	C	13: 69,959,817 (GRCm39)		probably benign	Het
Mrpl4	T	C	9: 20,919,888 (GRCm39)	Y280H	probably benign	Het
Msrb3	T	C	10: 120,687,892 (GRCm39)	E61G	probably damaging	Het
Myo1c	T	C	11: 75,551,827 (GRCm39)	Y337H	possibly damaging	Het
Myo7b	T	A	18: 32,143,204 (GRCm39)	T165S	probably damaging	Het
Myrfl	T	A	10: 116,685,138 (GRCm39)	R81W	probably damaging	Het
Neil1	T	C	9: 57,051,030 (GRCm39)		probably benign	Het
Neto2	A	G	8: 86,367,673 (GRCm39)	I357T	possibly damaging	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nkx6-3	T	C	8: 23,643,607 (GRCm39)	S3P	probably benign	Het
Or52h7	A	T	7: 104,214,210 (GRCm39)	I261L	probably benign	Het
Plce1	T	C	19: 38,512,863 (GRCm39)	I54T	possibly damaging	Het
Prex2	A	T	1: 11,355,267 (GRCm39)		probably benign	Het
Psapl1	T	A	5: 36,361,975 (GRCm39)	V189E	probably damaging	Het
Ptdss2	T	G	7: 140,735,232 (GRCm39)		probably benign	Het
Rnf213	T	C	11: 119,307,322 (GRCm39)	C661R	probably benign	Het
Rpap1	T	C	2: 119,595,380 (GRCm39)		probably null	Het
Rrp1b	A	G	17: 32,279,426 (GRCm39)	T696A	probably benign	Het
Sacm1l	T	A	9: 123,377,982 (GRCm39)	H87Q	probably benign	Het
Serpinb11	T	A	1: 107,305,260 (GRCm39)	M212K	probably damaging	Het
Tbc1d22a	C	A	15: 86,183,885 (GRCm39)	T248K	probably damaging	Het
Tcerg1	C	T	18: 42,701,679 (GRCm39)		probably benign	Het
Tpst1	T	A	5: 130,130,627 (GRCm39)	H32Q	probably damaging	Het
Tsc2	A	T	17: 24,818,600 (GRCm39)	V1412E	possibly damaging	Het
Usp19	C	A	9: 108,378,514 (GRCm39)	P1326Q	possibly damaging	Het
Vmn1r235	T	A	17: 21,482,596 (GRCm39)	M307K	probably damaging	Het
Vmn2r58	T	A	7: 41,487,048 (GRCm39)	T616S	probably damaging	Het
Vps13a	G	A	19: 16,637,863 (GRCm39)	T2406I	possibly damaging	Het
Zbtb26	T	A	2: 37,326,053 (GRCm39)	M328L	probably benign	Het
Zp2	A	G	7: 119,736,423 (GRCm39)	F340S	probably damaging	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
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
R1927:Brf1	UTSW	12	112,963,964 (GRCm39)	missense	possibly damaging	0.95
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'- TGCCTCATTGCTCTGTGAGCTG -3'
(R):5'- TTAGAGTCAGGAGGATTGCCACCC -3'

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

Posted On

2013-04-12