Incidental Mutation 'R2325:Gtf2b'
| ID |
244872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf2b
|
| Ensembl Gene |
ENSMUSG00000028271 |
| Gene Name |
general transcription factor IIB |
| Synonyms |
|
| MMRRC Submission |
040316-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2325 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
142471008-142489367 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142485851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 176
(T176A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029938
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029938]
|
| AlphaFold |
P62915 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029938
AA Change: T176A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029938
Gene: ENSMUSG00000028271
AA Change: T176A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
T |
C |
13: 4,573,295 (GRCm39) |
T7A |
probably benign |
Het |
| Atoh7 |
C |
A |
10: 62,935,924 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
C |
T |
10: 98,854,757 (GRCm39) |
Q219* |
probably null |
Het |
| B3galt2 |
A |
G |
1: 143,522,926 (GRCm39) |
D354G |
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,778,286 (GRCm39) |
R34G |
probably benign |
Het |
| Cyp4x1 |
A |
T |
4: 114,981,576 (GRCm39) |
C126S |
probably benign |
Het |
| Dse |
A |
T |
10: 34,060,043 (GRCm39) |
S21T |
probably benign |
Het |
| Ell2 |
T |
A |
13: 75,917,745 (GRCm39) |
H558Q |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,784,622 (GRCm39) |
M457K |
probably benign |
Het |
| Esco2 |
A |
T |
14: 66,064,027 (GRCm39) |
|
probably null |
Het |
| Fam170a |
A |
G |
18: 50,414,917 (GRCm39) |
K188E |
possibly damaging |
Het |
| Gin1 |
A |
C |
1: 97,720,286 (GRCm39) |
Y516S |
probably damaging |
Het |
| Gm8439 |
A |
G |
4: 120,446,048 (GRCm39) |
E16G |
unknown |
Het |
| Kcnh6 |
C |
T |
11: 105,924,661 (GRCm39) |
S822F |
probably benign |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrp8 |
A |
T |
4: 107,721,206 (GRCm39) |
D602V |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,139,875 (GRCm39) |
T817A |
probably damaging |
Het |
| Mroh9 |
A |
C |
1: 162,854,099 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
T |
C |
8: 87,575,088 (GRCm39) |
I736V |
probably damaging |
Het |
| Nebl |
T |
C |
2: 17,397,827 (GRCm39) |
K490E |
possibly damaging |
Het |
| P2ry1 |
A |
T |
3: 60,910,999 (GRCm39) |
K46M |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,266,609 (GRCm39) |
L426H |
probably damaging |
Het |
| Prkci |
T |
A |
3: 31,085,217 (GRCm39) |
|
probably null |
Het |
| Prss35 |
G |
A |
9: 86,638,357 (GRCm39) |
G376R |
probably damaging |
Het |
| Scube2 |
C |
G |
7: 109,443,161 (GRCm39) |
C226S |
probably damaging |
Het |
| Slc26a5 |
T |
G |
5: 22,024,692 (GRCm39) |
Y469S |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,889,904 (GRCm39) |
D797E |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,910,551 (GRCm39) |
|
probably null |
Het |
| Tmem132e |
C |
A |
11: 82,325,341 (GRCm39) |
L114M |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,442,887 (GRCm39) |
T269K |
possibly damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,537 (GRCm39) |
C257* |
probably null |
Het |
| Zc3h15 |
G |
A |
2: 83,483,783 (GRCm39) |
G53S |
probably damaging |
Het |
| Zfp462 |
A |
C |
4: 55,013,712 (GRCm39) |
I1893L |
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 |
|
R1365:Gtf2b
|
UTSW |
3 |
142,477,227 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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'- CAACCTCCCTCGCAATATAGTTG -3'
(R):5'- AGCTTGCAAAGAACATGGC -3'
Sequencing Primer
(F):5'- CCCTCGCAATATAGTTGTAAGTTC -3'
(R):5'- GCAAAGAAGCCTGTCTTGTAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation