Incidental Mutation 'R8967:Brf1'
| ID |
682814 |
| 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 |
068801-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R8967 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
112923705-112964324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 112937239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 183
(P183S)
|
| 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: P183S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000011302
Gene: ENSMUSG00000011158
AA Change: P183S
| 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 |
probably benign
Transcript: ENSMUST00000221104
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221500
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222209
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223287
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223368
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223508
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (52/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,242,696 (GRCm39) |
S1520P |
probably benign |
Het |
| Abhd12 |
A |
G |
2: 150,679,351 (GRCm39) |
Y291H |
probably damaging |
Het |
| Abr |
C |
A |
11: 76,369,855 (GRCm39) |
S178I |
possibly damaging |
Het |
| Akap13 |
T |
A |
7: 75,378,882 (GRCm39) |
I422K |
possibly damaging |
Het |
| Arfgef2 |
A |
T |
2: 166,677,662 (GRCm39) |
T185S |
probably damaging |
Het |
| Arfip2 |
A |
T |
7: 105,286,341 (GRCm39) |
Y228N |
probably damaging |
Het |
| B4gat1 |
T |
C |
19: 5,089,678 (GRCm39) |
V225A |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,163,297 (GRCm39) |
N312S |
possibly damaging |
Het |
| Cep135 |
T |
C |
5: 76,751,165 (GRCm39) |
L337P |
probably damaging |
Het |
| Cnppd1 |
A |
T |
1: 75,113,265 (GRCm39) |
C334* |
probably null |
Het |
| Cpxm2 |
A |
T |
7: 131,661,564 (GRCm39) |
Y408N |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
| Dlx3 |
T |
C |
11: 95,014,577 (GRCm39) |
Y287H |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,682,594 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
C |
A |
11: 66,015,938 (GRCm39) |
|
probably null |
Het |
| Dnai3 |
T |
A |
3: 145,761,395 (GRCm39) |
N654Y |
possibly damaging |
Het |
| Dnajc1 |
A |
T |
2: 18,313,757 (GRCm39) |
Y121* |
probably null |
Het |
| Ecel1 |
A |
T |
1: 87,078,862 (GRCm39) |
Y526N |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,199,132 (GRCm39) |
V218E |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,790,738 (GRCm39) |
|
probably null |
Het |
| Hsd17b7 |
A |
T |
1: 169,796,685 (GRCm39) |
L6* |
probably null |
Het |
| Irgc |
T |
A |
7: 24,132,737 (GRCm39) |
T27S |
probably benign |
Het |
| Lama3 |
A |
C |
18: 12,665,096 (GRCm39) |
I671L |
possibly damaging |
Het |
| Mybl2 |
T |
C |
2: 162,914,806 (GRCm39) |
L308P |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nphp1 |
G |
A |
2: 127,582,897 (GRCm39) |
P672L |
probably damaging |
Het |
| Oas3 |
G |
A |
5: 120,896,907 (GRCm39) |
H905Y |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,972,740 (GRCm39) |
V2102A |
probably benign |
Het |
| Or10j3 |
A |
G |
1: 173,031,039 (GRCm39) |
T39A |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,760,066 (GRCm39) |
T163S |
probably damaging |
Het |
| Or2a57 |
T |
C |
6: 43,213,073 (GRCm39) |
F177S |
probably damaging |
Het |
| Or4p8 |
A |
T |
2: 88,727,844 (GRCm39) |
Y32* |
probably null |
Het |
| Or6z7 |
A |
G |
7: 6,484,011 (GRCm39) |
L48P |
possibly damaging |
Het |
| Pank4 |
C |
G |
4: 155,055,415 (GRCm39) |
H262D |
probably benign |
Het |
| Phkb |
T |
A |
8: 86,756,063 (GRCm39) |
|
probably benign |
Het |
| Pxylp1 |
G |
A |
9: 96,707,324 (GRCm39) |
T286M |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,434,744 (GRCm39) |
D79V |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,056,854 (GRCm39) |
T682A |
possibly damaging |
Het |
| Sec24b |
C |
T |
3: 129,785,084 (GRCm39) |
R974Q |
probably damaging |
Het |
| Serpinb6e |
A |
G |
13: 34,020,419 (GRCm39) |
F230L |
possibly damaging |
Het |
| Skint6 |
A |
T |
4: 112,729,701 (GRCm39) |
L850* |
probably null |
Het |
| Slc7a11 |
C |
A |
3: 50,338,564 (GRCm39) |
V282L |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,765,739 (GRCm39) |
S1895P |
unknown |
Het |
| Tango2 |
A |
G |
16: 18,165,763 (GRCm39) |
|
probably benign |
Het |
| Tmc7 |
G |
A |
7: 118,160,228 (GRCm39) |
P203L |
probably benign |
Het |
| Tmem64 |
T |
A |
4: 15,266,575 (GRCm39) |
F208L |
probably damaging |
Het |
| Tpcn1 |
A |
T |
5: 120,694,023 (GRCm39) |
V191E |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,370,587 (GRCm39) |
I675V |
probably benign |
Het |
| Zfp180 |
T |
C |
7: 23,804,726 (GRCm39) |
S382P |
probably damaging |
Het |
| Zfp932 |
A |
G |
5: 110,156,883 (GRCm39) |
S194G |
probably benign |
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 |
|
|
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 |
|
R9109:Brf1
|
UTSW |
12 |
112,927,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATTTGGCTGCAATTACCCTCC -3'
(R):5'- AGTTCCCCAGGACCAGTAAG -3'
Sequencing Primer
(F):5'- CACGTGTGAACTTATCAAGTATCAGG -3'
(R):5'- CCAGTAAGCACAGCTGAGGGTC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation