Incidental Mutation 'R1365:Gtf2b'
| ID |
155994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf2b
|
| Ensembl Gene |
ENSMUSG00000028271 |
| Gene Name |
general transcription factor IIB |
| Synonyms |
|
| MMRRC Submission |
039430-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1365 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
142471008-142489367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 142477227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 33
(I33T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029938]
|
| AlphaFold |
P62915 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029938
AA Change: I33T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029938
Gene: ENSMUSG00000028271
AA Change: I33T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TF_Zn_Ribbon
|
13 |
55 |
2e-16 |
PFAM |
|
CYCLIN
|
119 |
200 |
3.33e-16 |
SMART |
|
CYCLIN
|
213 |
294 |
6.27e-12 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196311
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the general transcription factor IIB, one of the ubiquitous factors required for transcription initiation by RNA polymerase II. The protein localizes to the nucleus where it forms a complex (the DAB complex) with transcription factors IID and IIA. Transcription factor IIB serves as a bridge between IID, the factor which initially recognizes the promoter sequence, and RNA polymerase II. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
G |
A |
13: 98,211,632 (GRCm39) |
T117M |
probably damaging |
Het |
| Asb15 |
T |
C |
6: 24,567,269 (GRCm39) |
I530T |
possibly damaging |
Het |
| Brca1 |
T |
C |
11: 101,392,822 (GRCm39) |
N1673S |
probably benign |
Het |
| Cd48 |
A |
T |
1: 171,527,129 (GRCm39) |
Q185L |
probably damaging |
Het |
| Cog2 |
A |
T |
8: 125,267,713 (GRCm39) |
K343I |
probably damaging |
Het |
| Dars2 |
G |
A |
1: 160,872,564 (GRCm39) |
Q546* |
probably null |
Het |
| Dst |
A |
G |
1: 34,227,275 (GRCm39) |
K1623E |
probably benign |
Het |
| Epn1 |
G |
A |
7: 5,096,369 (GRCm39) |
R221Q |
probably benign |
Het |
| Hsf4 |
G |
T |
8: 105,997,726 (GRCm39) |
R156L |
probably damaging |
Het |
| Itch |
A |
G |
2: 155,054,951 (GRCm39) |
N752D |
probably benign |
Het |
| Kif28 |
G |
A |
1: 179,567,552 (GRCm39) |
Q73* |
probably null |
Het |
| Mamdc4 |
T |
C |
2: 25,456,036 (GRCm39) |
Y790C |
probably damaging |
Het |
| Med1 |
T |
C |
11: 98,046,821 (GRCm39) |
|
probably benign |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,438,711 (GRCm39) |
|
probably null |
Het |
| Oxct2b |
G |
A |
4: 123,011,162 (GRCm39) |
V361I |
probably benign |
Het |
| Pid1 |
T |
C |
1: 84,015,862 (GRCm39) |
M168V |
probably damaging |
Het |
| Plk1 |
A |
G |
7: 121,767,852 (GRCm39) |
D419G |
probably damaging |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Sem1 |
T |
C |
6: 6,560,501 (GRCm39) |
D26G |
possibly damaging |
Het |
| Sin3a |
C |
T |
9: 57,032,487 (GRCm39) |
R1141* |
probably null |
Het |
| Slf1 |
C |
T |
13: 77,274,490 (GRCm39) |
A68T |
probably damaging |
Het |
| Trmo |
A |
G |
4: 46,380,278 (GRCm39) |
S364P |
probably damaging |
Het |
| Uchl3 |
A |
G |
14: 101,891,528 (GRCm39) |
E10G |
probably damaging |
Het |
| Usp14 |
C |
T |
18: 10,000,490 (GRCm39) |
|
probably null |
Het |
| Vmn1r203 |
T |
A |
13: 22,708,756 (GRCm39) |
M179K |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,596,810 (GRCm39) |
Y3103H |
probably damaging |
Het |
| Zfp804a |
T |
C |
2: 82,087,590 (GRCm39) |
L473P |
probably benign |
Het |
| Zfp979 |
A |
T |
4: 147,697,681 (GRCm39) |
Y343N |
probably benign |
Het |
|
| Other mutations in Gtf2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:Gtf2b
|
APN |
3 |
142,487,359 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2101:Gtf2b
|
UTSW |
3 |
142,477,144 (GRCm39) |
splice site |
probably benign |
|
|
R2207:Gtf2b
|
UTSW |
3 |
142,484,081 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2256:Gtf2b
|
UTSW |
3 |
142,487,185 (GRCm39) |
missense |
probably benign |
|
|
R2325:Gtf2b
|
UTSW |
3 |
142,485,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3833:Gtf2b
|
UTSW |
3 |
142,477,153 (GRCm39) |
missense |
probably benign |
|
|
R4786:Gtf2b
|
UTSW |
3 |
142,487,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6940:Gtf2b
|
UTSW |
3 |
142,484,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Gtf2b
|
UTSW |
3 |
142,487,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8049:Gtf2b
|
UTSW |
3 |
142,483,975 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9105:Gtf2b
|
UTSW |
3 |
142,489,050 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9785:Gtf2b
|
UTSW |
3 |
142,477,178 (GRCm39) |
small deletion |
probably benign |
|
|
R9787:Gtf2b
|
UTSW |
3 |
142,477,178 (GRCm39) |
small deletion |
probably benign |
|
|
R9788:Gtf2b
|
UTSW |
3 |
142,477,178 (GRCm39) |
small deletion |
probably benign |
|
|
R9789:Gtf2b
|
UTSW |
3 |
142,477,178 (GRCm39) |
small deletion |
probably benign |
|
|
X0027:Gtf2b
|
UTSW |
3 |
142,489,072 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCATGCTGAATCTGCGGTAAGGGG -3'
(R):5'- GTCATATACACGCAGTGCTACACGG -3'
Sequencing Primer
(F):5'- GGTTAGCATTCAGGAAAACACTG -3'
(R):5'- GGGTGGAAGCTGTCAAAATGTA -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation