Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01610:Brf1'

92009

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Brf1

Ensembl Gene

ENSMUSG00000011158

Gene Name

BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit

Synonyms

2510002F24Rik, TFIIIB90, GTF3B, TAF3C, TAFIII90

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

IGL01610

Quality Score

Status

Chromosome

Chromosomal Location

112923705-112964324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112951703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 92 (H92L)

Ref Sequence

ENSEMBL: ENSMUSP00000011302 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000011302
AA Change: H92L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000011302
Gene: ENSMUSG00000011158
AA Change: H92L

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: ENSMUST00000221409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221415

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223506

Coding Region Coverage

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018A14Rik	T	C	18: 46,332,633 (GRCm39)		probably benign	Het
4921524J17Rik	T	C	8: 86,138,871 (GRCm39)	I73V	probably benign	Het
4930562C15Rik	T	A	16: 4,669,429 (GRCm39)		probably benign	Het
Abca15	T	A	7: 119,939,867 (GRCm39)	V323D	probably damaging	Het
Acot10	T	C	15: 20,665,781 (GRCm39)	Y320C	probably damaging	Het
Acp6	T	A	3: 97,083,036 (GRCm39)	V349D	possibly damaging	Het
Adcy9	G	T	16: 4,235,978 (GRCm39)	Q478K	probably damaging	Het
Akap13	A	G	7: 75,369,928 (GRCm39)	I1843V	possibly damaging	Het
Akap13	A	T	7: 75,397,353 (GRCm39)	I2528F	probably damaging	Het
Akap9	G	A	5: 4,082,839 (GRCm39)	A1988T	possibly damaging	Het
Alox5	C	T	6: 116,390,508 (GRCm39)	V490M	probably damaging	Het
Aspm	C	T	1: 139,417,408 (GRCm39)	R1537*	probably null	Het
Bmf	G	A	2: 118,379,639 (GRCm39)	P46S	probably benign	Het
Chchd1	A	G	14: 20,753,245 (GRCm39)	N35S	probably benign	Het
Cntnap3	C	T	13: 64,905,115 (GRCm39)	G889S	probably damaging	Het
Col6a4	T	C	9: 105,924,906 (GRCm39)		probably benign	Het
Crispld1	A	G	1: 17,816,949 (GRCm39)		probably null	Het
Ddx27	T	C	2: 166,863,964 (GRCm39)		probably benign	Het
Dennd1b	A	G	1: 139,097,504 (GRCm39)		probably benign	Het
Dennd4a	T	C	9: 64,814,166 (GRCm39)	V1461A	probably damaging	Het
Drc7	C	T	8: 95,804,430 (GRCm39)	R843W	probably damaging	Het
Dync2li1	A	G	17: 84,935,742 (GRCm39)	E13G	probably damaging	Het
Egf	A	G	3: 129,499,909 (GRCm39)		probably benign	Het
Hpse2	T	C	19: 43,373,228 (GRCm39)	S134G	probably benign	Het
Hydin	A	G	8: 111,284,345 (GRCm39)	T3206A	probably benign	Het
Ier5l	T	A	2: 30,363,966 (GRCm39)	S20C	probably damaging	Het
Il1r1	A	G	1: 40,341,560 (GRCm39)	E324G	probably benign	Het
Kdm4b	C	T	17: 56,660,522 (GRCm39)		probably benign	Het
Lztfl1	T	A	9: 123,529,156 (GRCm39)	E298D	probably benign	Het
Myo1b	A	T	1: 51,815,405 (GRCm39)	M647K	probably damaging	Het
Or13a25	C	T	7: 140,247,584 (GRCm39)	A128V	probably damaging	Het
Or52z14	A	T	7: 103,253,274 (GRCm39)	T138S	probably benign	Het
Or5j1	G	T	2: 86,878,632 (GRCm39)		probably benign	Het
Parvb	A	T	15: 84,187,666 (GRCm39)	K258M	probably damaging	Het
Pcdhb11	T	G	18: 37,556,412 (GRCm39)	S581A	probably benign	Het
Pcnx2	C	A	8: 126,566,372 (GRCm39)	A1024S	possibly damaging	Het
Pde4a	T	C	9: 21,122,646 (GRCm39)		probably benign	Het
Pgr	A	T	9: 8,903,692 (GRCm39)	H571L	possibly damaging	Het
Phf20	G	T	2: 156,144,809 (GRCm39)	E806*	probably null	Het
Pilra	T	A	5: 137,833,803 (GRCm39)	I85F	probably damaging	Het
Pla2g2f	C	T	4: 138,480,622 (GRCm39)	V125M	probably damaging	Het
Rb1cc1	A	G	1: 6,318,705 (GRCm39)	N708S	probably benign	Het
Resf1	C	T	6: 149,230,449 (GRCm39)	T1165M	probably benign	Het
Rnase4	A	T	14: 51,342,378 (GRCm39)	Y34F	probably damaging	Het
Ropn1	A	T	16: 34,487,141 (GRCm39)	I26F	probably damaging	Het
Rpl9-ps6	T	A	19: 32,443,699 (GRCm39)	T85S	probably benign	Het
Scaf8	C	T	17: 3,246,124 (GRCm39)	P738S	probably damaging	Het
Sec31a	A	T	5: 100,550,217 (GRCm39)		probably benign	Het
Sel1l	C	T	12: 91,784,064 (GRCm39)	V459I	probably damaging	Het
Senp7	A	T	16: 55,996,186 (GRCm39)	D755V	possibly damaging	Het
Serpinb9d	A	T	13: 33,381,985 (GRCm39)	K151N	probably benign	Het
Slc8a3	A	G	12: 81,362,576 (GRCm39)	F81S	probably damaging	Het
Spire2	T	A	8: 124,083,502 (GRCm39)	L162Q	probably damaging	Het
Syt17	A	G	7: 118,033,216 (GRCm39)	I264T	possibly damaging	Het
Tbl3	A	T	17: 24,923,018 (GRCm39)	V379D	probably damaging	Het
Tenm3	A	T	8: 48,707,512 (GRCm39)	L1762Q	probably damaging	Het
Trerf1	A	T	17: 47,630,501 (GRCm39)		noncoding transcript	Het
Ttc13	T	C	8: 125,403,083 (GRCm39)	D552G	probably damaging	Het
Tuba3a	G	T	6: 125,255,529 (GRCm39)	T382K	possibly damaging	Het
Vmn1r210	A	T	13: 23,011,977 (GRCm39)	V103E	probably damaging	Het
Vmn1r80	A	G	7: 11,927,307 (GRCm39)	H139R	possibly damaging	Het
Xpo7	A	T	14: 70,940,670 (GRCm39)	F141Y	probably damaging	Het
Zfp143	T	A	7: 109,673,333 (GRCm39)	Y143*	probably null	Het
Zfp207	T	A	11: 80,276,796 (GRCm39)	C26S	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
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
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

Posted On

2013-12-09