Incidental Mutation 'R5716:Brf2'
| ID |
451179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brf2
|
| Ensembl Gene |
ENSMUSG00000031487 |
| Gene Name |
BRF2, RNA polymerase III transcription initiation factor 50kDa subunit |
| Synonyms |
5730512K07Rik, TFIIIB50, 2700059M06Rik, BRFU |
| MMRRC Submission |
043187-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R5716 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
27613392-27618708 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27616074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 104
(S104P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033876]
[ENSMUST00000033877]
[ENSMUST00000178514]
[ENSMUST00000179351]
[ENSMUST00000209770]
[ENSMUST00000210552]
[ENSMUST00000211151]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033876
|
| SMART Domains |
Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
LRR
|
82 |
106 |
1.06e2 |
SMART |
|
LRR_TYP
|
107 |
130 |
2.71e-2 |
SMART |
|
LRR_TYP
|
131 |
154 |
1.28e-3 |
SMART |
|
LRR
|
155 |
178 |
7.38e1 |
SMART |
|
LRRCT
|
190 |
240 |
4.63e-6 |
SMART |
|
IG
|
253 |
346 |
3.49e-3 |
SMART |
|
low complexity region
|
629 |
639 |
N/A |
INTRINSIC |
|
low complexity region
|
663 |
674 |
N/A |
INTRINSIC |
|
Pfam:GPS
|
709 |
750 |
1.1e-7 |
PFAM |
|
Pfam:7tm_2
|
770 |
990 |
5.3e-13 |
PFAM |
|
transmembrane domain
|
1016 |
1038 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1045 |
1064 |
N/A |
INTRINSIC |
|
low complexity region
|
1075 |
1095 |
N/A |
INTRINSIC |
|
low complexity region
|
1110 |
1129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033877
AA Change: S104P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000033877
Gene: ENSMUSG00000031487
AA Change: S104P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TF_Zn_Ribbon
|
6 |
42 |
5.7e-11 |
PFAM |
|
SCOP:d1aisb1
|
73 |
167 |
1e-12 |
SMART |
|
Blast:CYCLIN
|
74 |
158 |
2e-51 |
BLAST |
|
Blast:CYCLIN
|
171 |
275 |
6e-61 |
BLAST |
|
low complexity region
|
322 |
336 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
367 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178514
|
| SMART Domains |
Protein: ENSMUSP00000136277
Gene: ENSMUSG00000031486
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
LRR
|
82 |
106 |
4.4e-1 |
SMART |
|
LRR_TYP
|
107 |
130 |
1.1e-4 |
SMART |
|
LRR_TYP
|
131 |
154 |
5.3e-6 |
SMART |
|
LRR
|
155 |
178 |
3.1e-1 |
SMART |
|
LRRCT
|
190 |
240 |
2.2e-8 |
SMART |
|
IG
|
253 |
346 |
1.4e-5 |
SMART |
|
HormR
|
349 |
426 |
1.8e-4 |
SMART |
|
Pfam:7tm_2
|
554 |
775 |
3.2e-11 |
PFAM |
|
transmembrane domain
|
801 |
823 |
N/A |
INTRINSIC |
|
transmembrane domain
|
830 |
849 |
N/A |
INTRINSIC |
|
low complexity region
|
860 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
895 |
914 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179207
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179351
|
| SMART Domains |
Protein: ENSMUSP00000137457
Gene: ENSMUSG00000031486
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GPS
|
5 |
49 |
4.5e-11 |
PFAM |
|
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209770
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210230
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211236
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210590
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211151
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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 multiple subunits of the RNA polymerase III transcription factor complex required for transcription of genes with promoter elements upstream of the initiation site. The product of this gene, a TFIIB-like factor, is directly recruited to the TATA-box of polymerase III small nuclear RNA gene promoters through its interaction with the TATA-binding protein. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
T |
C |
11: 58,312,594 (GRCm39) |
V24A |
possibly damaging |
Het |
| Abca14 |
G |
A |
7: 119,846,217 (GRCm39) |
|
probably null |
Het |
| Acad12 |
A |
G |
5: 121,748,046 (GRCm39) |
V124A |
probably benign |
Het |
| Alg1 |
A |
T |
16: 5,057,820 (GRCm39) |
D238V |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,306,564 (GRCm39) |
E179G |
probably damaging |
Het |
| Coq8a |
A |
T |
1: 180,006,825 (GRCm39) |
Y21N |
possibly damaging |
Het |
| Cramp1 |
A |
G |
17: 25,193,709 (GRCm39) |
F924L |
probably damaging |
Het |
| Dpyd |
G |
T |
3: 118,692,828 (GRCm39) |
C324F |
probably damaging |
Het |
| Eif4b |
T |
C |
15: 101,990,494 (GRCm39) |
Y33H |
probably benign |
Het |
| Fry |
C |
T |
5: 150,293,686 (GRCm39) |
Q460* |
probably null |
Het |
| Fryl |
T |
C |
5: 73,257,808 (GRCm39) |
I665V |
probably benign |
Het |
| Gpank1 |
A |
G |
17: 35,342,229 (GRCm39) |
K90E |
probably damaging |
Het |
| Hexd |
A |
G |
11: 121,112,388 (GRCm39) |
I482V |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,226,579 (GRCm39) |
E185K |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,348,750 (GRCm39) |
E4922G |
possibly damaging |
Het |
| Ino80d |
A |
T |
1: 63,097,856 (GRCm39) |
D679E |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,807,546 (GRCm39) |
C2608S |
probably benign |
Het |
| Kars1 |
T |
A |
8: 112,730,074 (GRCm39) |
|
probably null |
Het |
| Lcn2 |
A |
G |
2: 32,275,825 (GRCm39) |
V211A |
possibly damaging |
Het |
| Lsmem1 |
A |
T |
12: 40,230,692 (GRCm39) |
V70E |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,208,798 (GRCm39) |
|
probably null |
Het |
| Megf11 |
T |
C |
9: 64,413,392 (GRCm39) |
F60L |
possibly damaging |
Het |
| Muc21 |
A |
C |
17: 35,931,675 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
A |
2: 52,100,596 (GRCm39) |
H4438L |
probably benign |
Het |
| Nuf2 |
C |
A |
1: 169,349,958 (GRCm39) |
V107F |
probably benign |
Het |
| Or14j6 |
A |
T |
17: 38,214,719 (GRCm39) |
Y94F |
probably benign |
Het |
| Or6c8 |
T |
A |
10: 128,915,424 (GRCm39) |
N136I |
probably benign |
Het |
| Or9i2 |
C |
T |
19: 13,816,003 (GRCm39) |
C178Y |
probably damaging |
Het |
| Pabpn1l |
A |
G |
8: 123,347,160 (GRCm39) |
V215A |
probably damaging |
Het |
| Pnn |
A |
G |
12: 59,118,658 (GRCm39) |
I414V |
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,255,638 (GRCm39) |
Y539H |
probably damaging |
Het |
| Rassf4 |
A |
G |
6: 116,638,828 (GRCm39) |
V13A |
probably benign |
Het |
| Sephs1 |
T |
C |
2: 4,889,389 (GRCm39) |
F56L |
probably benign |
Het |
| Sh3rf3 |
C |
T |
10: 58,967,105 (GRCm39) |
P816S |
probably benign |
Het |
| Skint10 |
A |
G |
4: 112,568,844 (GRCm39) |
L291P |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,343,147 (GRCm39) |
I1157L |
probably benign |
Het |
| Tmem184c |
T |
C |
8: 78,333,036 (GRCm39) |
H85R |
possibly damaging |
Het |
| Tmem94 |
T |
C |
11: 115,683,254 (GRCm39) |
V679A |
probably benign |
Het |
| Tpcn2 |
A |
C |
7: 144,811,550 (GRCm39) |
F566V |
possibly damaging |
Het |
| Uqcrc1 |
A |
G |
9: 108,776,473 (GRCm39) |
N298D |
probably benign |
Het |
|
| Other mutations in Brf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03371:Brf2
|
APN |
8 |
27,615,872 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0179:Brf2
|
UTSW |
8 |
27,615,896 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0615:Brf2
|
UTSW |
8 |
27,614,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1066:Brf2
|
UTSW |
8 |
27,613,974 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1882:Brf2
|
UTSW |
8 |
27,618,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3766:Brf2
|
UTSW |
8 |
27,614,496 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5546:Brf2
|
UTSW |
8 |
27,614,311 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6965:Brf2
|
UTSW |
8 |
27,614,586 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7903:Brf2
|
UTSW |
8 |
27,616,121 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7923:Brf2
|
UTSW |
8 |
27,614,218 (GRCm39) |
nonsense |
probably null |
|
|
R8184:Brf2
|
UTSW |
8 |
27,614,013 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8282:Brf2
|
UTSW |
8 |
27,614,621 (GRCm39) |
missense |
|
|
|
R8365:Brf2
|
UTSW |
8 |
27,618,566 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8704:Brf2
|
UTSW |
8 |
27,618,499 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8848:Brf2
|
UTSW |
8 |
27,616,140 (GRCm39) |
missense |
probably benign |
|
|
R9293:Brf2
|
UTSW |
8 |
27,614,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9548:Brf2
|
UTSW |
8 |
27,614,623 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0026:Brf2
|
UTSW |
8 |
27,616,079 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Brf2
|
UTSW |
8 |
27,614,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGCTTTACCATCTGCATG -3'
(R):5'- AGCACAGAAGGGCATATTATTTGTG -3'
Sequencing Primer
(F):5'- TACCATCTGCATGTAGGTGCCAG -3'
(R):5'- GTGCATCTGGTATATATGGCAAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation