Mutagenetix > Incidental Mutation

Incidental Mutation 'R5092:Brf1'

387861

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

042681-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R5092 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

112923705-112964324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 112943352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 166 (T166M)

Ref Sequence

ENSEMBL: ENSMUSP00000011302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002880] [ENSMUST00000011302] [ENSMUST00000165079] [ENSMUST00000221104] [ENSMUST00000223287] [ENSMUST00000222209] [ENSMUST00000223368] [ENSMUST00000221500]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002880

SMART Domains

Protein: ENSMUSP00000002880
Gene: ENSMUSG00000002803

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	25	40	N/A	INTRINSIC
low complexity region	43	55	N/A	INTRINSIC
low complexity region	58	68	N/A	INTRINSIC
low complexity region	86	106	N/A	INTRINSIC
BTB	137	237	1.39e-23	SMART
BACK	243	352	2.81e-14	SMART
Pfam:PHR	393	538	1.2e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000011302
AA Change: T166M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000011302
Gene: ENSMUSG00000011158
AA Change: T166M

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

probably benign
Transcript: ENSMUST00000165079

SMART Domains

Protein: ENSMUSP00000127286
Gene: ENSMUSG00000002803

Domain	Start	End	E-Value	Type
low complexity region	7	17	N/A	INTRINSIC
low complexity region	35	55	N/A	INTRINSIC
BTB	86	186	1.39e-23	SMART
BACK	192	301	2.81e-14	SMART
Pfam:PHR	342	488	8.7e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220567

Predicted Effect

probably benign
Transcript: ENSMUST00000221104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221415

Predicted Effect

probably benign
Transcript: ENSMUST00000223508

Predicted Effect

probably benign
Transcript: ENSMUST00000223287

Predicted Effect

probably benign
Transcript: ENSMUST00000222209

Predicted Effect

probably benign
Transcript: ENSMUST00000223368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221680

Predicted Effect

probably benign
Transcript: ENSMUST00000221500

Meta Mutation Damage Score

0.2150

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	T	7: 40,637,091 (GRCm39)		probably benign	Het
Abca13	T	A	11: 9,208,535 (GRCm39)	L236Q	probably damaging	Het
Acp2	A	T	2: 91,038,391 (GRCm39)	T255S	probably benign	Het
Acsf3	A	C	8: 123,544,131 (GRCm39)	R536S	probably benign	Het
Adgrb1	T	G	15: 74,401,664 (GRCm39)	V220G	probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Atp5f1b	A	G	10: 127,919,854 (GRCm39)	Q74R	probably benign	Het
Bltp1	A	T	3: 37,054,234 (GRCm39)	M3118L	probably benign	Het
Capn9	A	G	8: 125,324,264 (GRCm39)	K188R	probably damaging	Het
Casp8	A	T	1: 58,883,835 (GRCm39)	N381Y	possibly damaging	Het
Ccdc88b	A	G	19: 6,825,600 (GRCm39)	S1218P	probably damaging	Het
Cdc42bpg	C	T	19: 6,363,250 (GRCm39)	P403S	probably benign	Het
Cdkal1	T	A	13: 30,030,222 (GRCm39)	Y91F	probably damaging	Het
Cdyl2	T	C	8: 117,350,679 (GRCm39)	N151D	possibly damaging	Het
Cnot1	T	A	8: 96,479,396 (GRCm39)	R875S	possibly damaging	Het
Cpd	A	G	11: 76,702,530 (GRCm39)	S613P	possibly damaging	Het
Cyp2e1	G	T	7: 140,354,648 (GRCm39)	R492L	probably damaging	Het
D5Ertd579e	G	A	5: 36,760,047 (GRCm39)	T1371M	probably benign	Het
Dcaf8	A	G	1: 172,014,476 (GRCm39)	T394A	probably benign	Het
Dgka	T	C	10: 128,571,702 (GRCm39)	E117G	probably damaging	Het
Dock4	G	A	12: 40,894,440 (GRCm39)	V1867I	probably benign	Het
E2f2	G	T	4: 135,914,248 (GRCm39)	A333S	probably benign	Het
Eif3l	T	C	15: 78,968,354 (GRCm39)	S208P	probably benign	Het
Elovl3	A	T	19: 46,122,961 (GRCm39)	H179L	probably damaging	Het
Eml5	T	C	12: 98,758,875 (GRCm39)	D1766G	probably damaging	Het
Eno4	A	G	19: 58,934,023 (GRCm39)	T75A	probably benign	Het
Fam135a	C	T	1: 24,067,888 (GRCm39)	D94N	probably benign	Het
Fasn	G	T	11: 120,705,862 (GRCm39)	Q1136K	probably benign	Het
Fcer1a	T	G	1: 173,053,022 (GRCm39)	N58T	probably damaging	Het
Frmd4b	T	A	6: 97,272,941 (GRCm39)	D763V	probably damaging	Het
Gm43518	A	G	5: 124,076,297 (GRCm39)	T115A	probably damaging	Het
Gria4	C	T	9: 4,472,176 (GRCm39)	E438K	probably benign	Het
Grin2d	T	C	7: 45,503,692 (GRCm39)	E681G	probably damaging	Het
Gtf3c5	G	T	2: 28,472,885 (GRCm39)	N35K	possibly damaging	Het
Hydin	A	G	8: 111,309,300 (GRCm39)	T4031A	probably benign	Het
Igfn1	G	T	1: 135,892,564 (GRCm39)	N2185K	probably benign	Het
Il17rb	T	C	14: 29,724,333 (GRCm39)	T174A	probably benign	Het
Kdm3b	T	A	18: 34,946,515 (GRCm39)	C835S	probably benign	Het
Lgi2	A	T	5: 52,695,429 (GRCm39)	I510N	probably damaging	Het
Map3k6	A	G	4: 132,979,054 (GRCm39)	E1164G	probably benign	Het
Mpv17l	T	A	16: 13,758,537 (GRCm39)	M1K	probably null	Het
Myoc	T	A	1: 162,467,203 (GRCm39)	L124Q	probably damaging	Het
Nbeal2	C	A	9: 110,455,796 (GRCm39)		probably null	Het
Nek10	A	G	14: 14,820,851 (GRCm38)	K13E	possibly damaging	Het
Nt5dc2	A	G	14: 30,860,989 (GRCm39)	H491R	possibly damaging	Het
Or4f61	A	C	2: 111,922,452 (GRCm39)	M198R	possibly damaging	Het
Or51b6	T	A	7: 103,556,406 (GRCm39)	Y250*	probably null	Het
Or8k21	T	C	2: 86,144,706 (GRCm39)	Q308R	probably benign	Het
Pclo	T	A	5: 14,727,322 (GRCm39)		probably benign	Het
Pgm2	A	T	5: 64,265,092 (GRCm39)	N371I	possibly damaging	Het
Phf20l1	T	A	15: 66,508,762 (GRCm39)	S873T	possibly damaging	Het
Plch1	T	C	3: 63,606,131 (GRCm39)	T1249A	probably benign	Het
Plekhn1	A	T	4: 156,309,222 (GRCm39)	I228N	possibly damaging	Het
Ppp1r12a	A	T	10: 108,103,263 (GRCm39)		probably null	Het
Ptchd3	T	C	11: 121,721,972 (GRCm39)	Y282H	probably damaging	Het
Ptprk	T	A	10: 28,468,769 (GRCm39)	N1396K	probably damaging	Het
Rap1gap2	T	C	11: 74,329,121 (GRCm39)	E81G	probably damaging	Het
Rpf2	T	C	10: 40,122,971 (GRCm39)	M1V	probably null	Het
Rpgrip1l	G	A	8: 91,948,012 (GRCm39)	Q1224*	probably null	Het
Rreb1	A	G	13: 38,112,254 (GRCm39)	D286G	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Senp5	A	T	16: 31,807,960 (GRCm39)	N431K	probably benign	Het
Serpina1f	A	C	12: 103,659,809 (GRCm39)	S158A	probably damaging	Het
Sertad3	T	A	7: 27,176,145 (GRCm39)	I193N	probably damaging	Het
Slc22a8	T	A	19: 8,571,528 (GRCm39)	N86K	probably damaging	Het
Slc6a2	T	C	8: 93,721,347 (GRCm39)	V492A	possibly damaging	Het
Slf2	T	A	19: 44,940,523 (GRCm39)	D773E	probably benign	Het
Slmap	A	C	14: 26,184,744 (GRCm39)	L272R	probably damaging	Het
Smyd5	T	C	6: 85,422,185 (GRCm39)		probably benign	Het
Snx21	G	T	2: 164,628,666 (GRCm39)	R103L	probably damaging	Het
Sphk2	T	A	7: 45,361,777 (GRCm39)		probably null	Het
Stab1	T	C	14: 30,867,812 (GRCm39)	K1653E	probably benign	Het
Syde1	A	G	10: 78,425,252 (GRCm39)	V253A	probably benign	Het
Sympk	G	T	7: 18,776,584 (GRCm39)	R492L	probably benign	Het
Taar7f	T	C	10: 23,925,451 (GRCm39)	I15T	probably benign	Het
Tas2r140	A	G	6: 40,468,200 (GRCm39)	D10G	probably benign	Het
Tbcc	A	G	17: 47,202,600 (GRCm39)	S329G	probably benign	Het
Teddm3	G	A	16: 20,971,900 (GRCm39)	T223M	probably benign	Het
Tex14	G	T	11: 87,405,668 (GRCm39)	C860F	probably benign	Het
Thada	A	T	17: 84,751,896 (GRCm39)	L360Q	probably damaging	Het
Thop1	C	A	10: 80,916,412 (GRCm39)	H473Q	probably damaging	Het
Tln2	T	C	9: 67,163,310 (GRCm39)	D1075G	probably benign	Het
Tmem130	G	A	5: 144,680,528 (GRCm39)	T292I	probably benign	Het
Tmem198b	T	C	10: 128,637,305 (GRCm39)	N278S	probably benign	Het
Ttc21a	A	T	9: 119,771,731 (GRCm39)	T177S	probably benign	Het
Ubr2	A	T	17: 47,280,173 (GRCm39)	C659S	probably damaging	Het
Vmn2r4	T	C	3: 64,298,373 (GRCm39)	K585R	probably benign	Het
Vmn2r86	A	G	10: 130,282,456 (GRCm39)	I720T	probably damaging	Het
Wdr35	G	T	12: 9,037,327 (GRCm39)	W311L	probably damaging	Het
Zfp39	A	T	11: 58,782,028 (GRCm39)	F245I	possibly damaging	Het
Zftraf1	A	T	15: 76,530,512 (GRCm39)	F269L	probably benign	Het
Zmym5	G	A	14: 57,034,236 (GRCm39)	T325I	probably benign	Het
Zng1	A	T	19: 24,898,383 (GRCm39)		probably null	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
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
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'- GTTTGTACAATAACGCCCTACTG -3'
(R):5'- TTTAAGAAAACAGCAGCTGAGC -3'

Sequencing Primer
(F):5'- CCTACTCTGAGATCTTTGGC -3'
(R):5'- TGGTGATCGCCTTAACCAG -3'

Posted On

2016-06-06