Mutagenetix > Incidental Mutation

Incidental Mutation 'R4817:Brf1'

369938

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

042435-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R4817 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

112923705-112964324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112935921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 250 (I250N)

Ref Sequence

ENSEMBL: ENSMUSP00000011302 (fasta)

Gene Model

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

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: I250N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000011302
Gene: ENSMUSG00000011158
AA Change: I250N

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

probably benign
Transcript: ENSMUST00000221500

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222117

Predicted Effect

probably benign
Transcript: ENSMUST00000222209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223506

Predicted Effect

probably benign
Transcript: ENSMUST00000223508

Predicted Effect

probably benign
Transcript: ENSMUST00000223287

Predicted Effect

probably benign
Transcript: ENSMUST00000223368

Meta Mutation Damage Score

0.8771

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (108/112)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp2	T	A	2: 91,033,963 (GRCm39)	D44E	probably damaging	Het
Acp5	T	C	9: 22,038,379 (GRCm39)	I307M	probably benign	Het
Ahsa1	A	G	12: 87,319,940 (GRCm39)	D245G	possibly damaging	Het
Ankrd40	A	G	11: 94,230,459 (GRCm39)	K316E	probably benign	Het
Apol9b	G	A	15: 77,620,088 (GRCm39)	E295K	possibly damaging	Het
Aqp4	C	A	18: 15,532,815 (GRCm39)	G93C	probably damaging	Het
Arhgap21	A	G	2: 20,854,967 (GRCm39)	V1465A	probably benign	Het
Arhgap5	C	T	12: 52,565,992 (GRCm39)	P988S	possibly damaging	Het
Asxl3	A	C	18: 22,658,511 (GRCm39)	K2174Q	probably damaging	Het
Calm1	A	G	12: 100,169,832 (GRCm39)		probably null	Het
Ccdc33	C	T	9: 57,974,818 (GRCm39)	V352M	probably damaging	Het
Ccdc88a	G	T	11: 29,410,907 (GRCm39)	K464N	probably benign	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Cdc25b	T	A	2: 131,035,223 (GRCm39)	I327N	probably damaging	Het
Cenpf	G	A	1: 189,414,566 (GRCm39)	H184Y	possibly damaging	Het
Cimap1d	G	A	10: 79,475,851 (GRCm39)	P238S	probably damaging	Het
Col6a5	G	A	9: 105,811,497 (GRCm39)	T674I	unknown	Het
Creg2	A	T	1: 39,662,358 (GRCm39)	M258K	probably damaging	Het
Csf3r	T	A	4: 125,931,449 (GRCm39)	Y477*	probably null	Het
Cyp3a44	T	A	5: 145,740,565 (GRCm39)	Y25F	possibly damaging	Het
Degs2	T	A	12: 108,655,325 (GRCm39)	R283*	probably null	Het
Dido1	T	C	2: 180,303,209 (GRCm39)	N1565S	probably benign	Het
Dnah6	A	T	6: 72,999,407 (GRCm39)	M4008K	probably benign	Het
Dnmbp	C	A	19: 43,838,411 (GRCm39)	G1138V	probably benign	Het
Drosha	A	C	15: 12,914,133 (GRCm39)	H1136P	probably damaging	Het
Duox2	T	G	2: 122,126,996 (GRCm39)	N173T	probably damaging	Het
Dync1li1	T	G	9: 114,534,162 (GRCm39)	I87M	probably benign	Het
E2f8	A	C	7: 48,517,494 (GRCm39)	S770A	probably benign	Het
Efemp1	A	G	11: 28,876,241 (GRCm39)	T469A	probably damaging	Het
Eif3f	A	T	7: 108,536,982 (GRCm39)	T136S	probably damaging	Het
Enpp5	T	C	17: 44,391,871 (GRCm39)	*46R	probably null	Het
Epb41l4b	A	G	4: 57,103,428 (GRCm39)	V136A	probably damaging	Het
Fam186a	A	C	15: 99,831,419 (GRCm39)		probably benign	Het
Flt4	A	G	11: 49,516,242 (GRCm39)	Y115C	probably damaging	Het
Gal	T	A	19: 3,461,126 (GRCm39)		probably null	Het
Galnt3	C	T	2: 65,923,883 (GRCm39)	V462I	possibly damaging	Het
Gas2l1	A	G	11: 5,011,429 (GRCm39)	S467P	possibly damaging	Het
Gbx1	A	G	5: 24,731,204 (GRCm39)	L204P	probably damaging	Het
Gle1	T	A	2: 29,826,223 (GRCm39)	S101T	probably benign	Het
Gltpd2	A	C	11: 70,410,303 (GRCm39)	Q87P	probably damaging	Het
Gm12789	T	A	4: 101,846,079 (GRCm39)	D113E	probably damaging	Het
Grin3b	G	A	10: 79,812,732 (GRCm39)	G936R	probably benign	Het
Gtf3c2	C	T	5: 31,331,434 (GRCm39)		probably null	Het
Gvin3	T	A	7: 106,200,437 (GRCm39)		noncoding transcript	Het
Klhl28	T	C	12: 65,004,043 (GRCm39)	T157A	probably benign	Het
Kmt2a	A	G	9: 44,732,763 (GRCm39)		probably benign	Het
Lamp1	A	G	8: 13,222,541 (GRCm39)	T242A	probably benign	Het
Lhfpl5	T	G	17: 28,795,300 (GRCm39)	I109S	possibly damaging	Het
Lhfpl5	T	A	17: 28,801,962 (GRCm39)	*220R	probably null	Het
Map4k2	C	T	19: 6,394,459 (GRCm39)	T313I	probably damaging	Het
Matn2	A	G	15: 34,423,945 (GRCm39)	D601G	probably damaging	Het
Mcur1	C	T	13: 43,705,147 (GRCm39)	V170M	possibly damaging	Het
Mphosph10	T	C	7: 64,041,969 (GRCm39)		probably benign	Het
Nat8l	G	A	5: 34,158,387 (GRCm39)	A266T	probably benign	Het
Nckap5	G	T	1: 125,954,952 (GRCm39)	D469E	possibly damaging	Het
Nckap5l	G	T	15: 99,321,067 (GRCm39)	P1238T	probably damaging	Het
Ngf	A	G	3: 102,417,156 (GRCm39)		probably benign	Het
Ntng1	T	A	3: 109,842,184 (GRCm39)	L196F	probably damaging	Het
Or2q1	A	G	6: 42,794,896 (GRCm39)	I164V	possibly damaging	Het
Or2v2	A	T	11: 49,004,448 (GRCm39)	V35D	probably damaging	Het
Pclo	A	T	5: 14,725,045 (GRCm39)	Y1301F	unknown	Het
Pclo	A	G	5: 14,763,139 (GRCm39)	T3871A	unknown	Het
Peli3	T	C	19: 4,982,594 (GRCm39)	E357G	probably damaging	Het
Pkd1	T	A	17: 24,784,348 (GRCm39)		probably null	Het
Pla2g2c	T	G	4: 138,461,645 (GRCm39)	F38C	probably damaging	Het
Plekha2	T	A	8: 25,549,960 (GRCm39)	T126S	possibly damaging	Het
Polr3f	T	A	2: 144,376,001 (GRCm39)	*142K	probably null	Het
Ppcs	C	T	4: 119,276,343 (GRCm39)	V81M	probably benign	Het
Prl7a1	A	G	13: 27,819,747 (GRCm39)	I169T	probably damaging	Het
Rbm19	C	A	5: 120,271,799 (GRCm39)		probably benign	Het
Rdh7	T	A	10: 127,721,631 (GRCm39)	Y215F	probably benign	Het
Rragd	T	G	4: 32,995,072 (GRCm39)	S62R	probably benign	Het
Rtel1	T	C	2: 180,997,728 (GRCm39)	S1114P	possibly damaging	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Setbp1	A	G	18: 78,902,015 (GRCm39)	S551P	probably damaging	Het
Setd6	T	C	8: 96,443,683 (GRCm39)		probably benign	Het
Slmap	A	C	14: 26,183,507 (GRCm39)	M292R	probably damaging	Het
Srrm4	T	C	5: 116,615,193 (GRCm39)	D97G	unknown	Het
Stk-ps2	G	A	1: 46,068,125 (GRCm39)		noncoding transcript	Het
Syce1	A	T	7: 140,358,336 (GRCm39)	M204K	probably benign	Het
Syk	A	G	13: 52,765,242 (GRCm39)	K123R	probably benign	Het
Tbc1d14	A	T	5: 36,729,175 (GRCm39)	S64T	probably damaging	Het
Tmt1a3	A	T	15: 100,233,214 (GRCm39)	D135V	probably damaging	Het
Traf3ip3	T	C	1: 192,867,137 (GRCm39)	K295E	probably damaging	Het
Trp53bp2	T	C	1: 182,269,370 (GRCm39)		probably null	Het
Tsc2	T	A	17: 24,815,716 (GRCm39)		probably null	Het
Tspyl4	T	A	10: 34,173,734 (GRCm39)	C75*	probably null	Het
Uqcc2	T	C	17: 27,344,133 (GRCm39)	I52V	probably benign	Het
Vcp	T	A	4: 42,983,486 (GRCm39)	T525S	probably damaging	Het
Vmn2r18	A	T	5: 151,508,897 (GRCm39)		probably null	Het
Vmp1	A	G	11: 86,492,879 (GRCm39)	V310A	probably benign	Het
Vps13d	T	A	4: 144,795,735 (GRCm39)	R3671S	probably damaging	Het
Wdr3	T	C	3: 100,053,861 (GRCm39)	T544A	possibly damaging	Het
Zc3h14	C	G	12: 98,719,107 (GRCm39)	D157E	probably damaging	Het
Zfp541	T	A	7: 15,824,307 (GRCm39)	F1010I	probably damaging	Het
Zfp64	T	C	2: 168,768,032 (GRCm39)	T527A	probably benign	Het
Zyx	G	T	6: 42,333,421 (GRCm39)	R449M	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
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
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'- GTCCCAAAGCAGCTTCTCTG -3'
(R):5'- GCTGTCCCCTTATAGAAGCCAC -3'

Sequencing Primer
(F):5'- TCCAGTCTGTGAGGGGGAAC -3'
(R):5'- GTCCCCTTATAGAAGCCACAGCAG -3'

Posted On

2016-02-04