Incidental Mutation 'R5784:Gtf2h3'
| ID |
447911 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf2h3
|
| Ensembl Gene |
ENSMUSG00000029387 |
| Gene Name |
general transcription factor IIH, polypeptide 3 |
| Synonyms |
5033417D07Rik, BTF2, D5Ertd679e, 34kDa |
| MMRRC Submission |
043381-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R5784 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124717211-124735743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 124722360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 121
(T121I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031333]
|
| AlphaFold |
Q8VD76 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031333
AA Change: T121I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000031333
Gene: ENSMUSG00000029387
AA Change: T121I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tfb4
|
8 |
287 |
2.1e-108 |
PFAM |
|
low complexity region
|
299 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126466
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153436
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200670
|
| Meta Mutation Damage Score |
0.0598 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (51/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,441 (GRCm39) |
R292G |
possibly damaging |
Het |
| 4932416K20Rik |
T |
A |
8: 105,524,261 (GRCm39) |
|
noncoding transcript |
Het |
| Aox3 |
A |
G |
1: 58,192,658 (GRCm39) |
D544G |
probably benign |
Het |
| Atg2a |
C |
A |
19: 6,311,535 (GRCm39) |
A1830D |
probably damaging |
Het |
| Casp1 |
T |
C |
9: 5,299,337 (GRCm39) |
I22T |
probably damaging |
Het |
| Ccdc141 |
A |
C |
2: 76,859,671 (GRCm39) |
L990W |
probably damaging |
Het |
| Cnbd2 |
A |
G |
2: 156,180,577 (GRCm39) |
T125A |
probably damaging |
Het |
| Cnep1r1 |
T |
A |
8: 88,857,354 (GRCm39) |
|
probably benign |
Het |
| Dhx38 |
G |
T |
8: 110,286,245 (GRCm39) |
Y348* |
probably null |
Het |
| Dnah7c |
A |
T |
1: 46,563,228 (GRCm39) |
I593L |
possibly damaging |
Het |
| Dpep3 |
T |
C |
8: 106,705,375 (GRCm39) |
D125G |
probably benign |
Het |
| Eif1ad10 |
T |
A |
12: 88,216,525 (GRCm39) |
N116Y |
probably damaging |
Het |
| Epb41l4b |
A |
C |
4: 57,086,003 (GRCm39) |
S191A |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,811,016 (GRCm39) |
Y1033C |
possibly damaging |
Het |
| Fam193a |
T |
C |
5: 34,623,567 (GRCm39) |
L32P |
probably damaging |
Het |
| Grin2c |
T |
C |
11: 115,149,121 (GRCm39) |
E159G |
possibly damaging |
Het |
| Hdhd2 |
A |
T |
18: 77,054,841 (GRCm39) |
D205V |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,561,307 (GRCm39) |
N774K |
unknown |
Het |
| Idh3b |
A |
G |
2: 130,121,591 (GRCm39) |
V71A |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,352,964 (GRCm39) |
M818V |
probably benign |
Het |
| Ltbp2 |
A |
G |
12: 84,915,513 (GRCm39) |
V162A |
probably damaging |
Het |
| Ltk |
G |
A |
2: 119,584,840 (GRCm39) |
Q136* |
probably null |
Het |
| Mafb |
A |
T |
2: 160,208,461 (GRCm39) |
C46S |
probably damaging |
Het |
| Map1s |
T |
C |
8: 71,367,002 (GRCm39) |
S636P |
probably damaging |
Het |
| Map3k13 |
A |
G |
16: 21,717,391 (GRCm39) |
K209E |
possibly damaging |
Het |
| Mppe1 |
T |
C |
18: 67,361,098 (GRCm39) |
N220D |
probably benign |
Het |
| Mydgf |
T |
C |
17: 56,485,254 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,190,521 (GRCm39) |
K999E |
possibly damaging |
Het |
| Nemp1 |
T |
A |
10: 127,513,067 (GRCm39) |
V34D |
possibly damaging |
Het |
| Npr2 |
A |
G |
4: 43,632,801 (GRCm39) |
E206G |
probably benign |
Het |
| Or10x4 |
G |
A |
1: 174,218,965 (GRCm39) |
C110Y |
probably damaging |
Het |
| Or13g1 |
T |
C |
7: 85,955,743 (GRCm39) |
N193D |
probably damaging |
Het |
| Or9q2 |
A |
T |
19: 13,772,710 (GRCm39) |
H88Q |
probably benign |
Het |
| Papln |
A |
G |
12: 83,828,754 (GRCm39) |
N820S |
probably benign |
Het |
| Pcdh10 |
T |
G |
3: 45,335,075 (GRCm39) |
F463C |
probably damaging |
Het |
| Pde7a |
A |
G |
3: 19,319,009 (GRCm39) |
V12A |
probably benign |
Het |
| Radil |
G |
T |
5: 142,473,268 (GRCm39) |
H804Q |
possibly damaging |
Het |
| Rbfox1 |
A |
T |
16: 7,042,203 (GRCm39) |
D39V |
probably damaging |
Het |
| Rims2 |
T |
G |
15: 39,399,383 (GRCm39) |
|
probably null |
Het |
| Rnf121 |
A |
G |
7: 101,684,583 (GRCm39) |
F110S |
probably benign |
Het |
| Saxo2 |
C |
T |
7: 82,284,082 (GRCm39) |
V259I |
probably benign |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc2a3 |
A |
T |
6: 122,712,376 (GRCm39) |
|
probably null |
Het |
| Traf2 |
A |
T |
2: 25,429,049 (GRCm39) |
V6E |
probably benign |
Het |
| Trim43c |
A |
T |
9: 88,729,696 (GRCm39) |
N379I |
probably benign |
Het |
| Ubr4 |
C |
G |
4: 139,152,529 (GRCm39) |
C1973W |
probably damaging |
Het |
| Unc13a |
G |
T |
8: 72,108,310 (GRCm39) |
D514E |
possibly damaging |
Het |
| Wdr27 |
T |
A |
17: 15,146,495 (GRCm39) |
T167S |
probably damaging |
Het |
| Zfp174 |
A |
T |
16: 3,672,438 (GRCm39) |
E329V |
probably benign |
Het |
| Zfp422 |
A |
T |
6: 116,603,771 (GRCm39) |
I76N |
probably damaging |
Het |
|
| Other mutations in Gtf2h3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01118:Gtf2h3
|
APN |
5 |
124,733,731 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01611:Gtf2h3
|
APN |
5 |
124,733,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01681:Gtf2h3
|
APN |
5 |
124,732,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03097:Gtf2h3
|
UTSW |
5 |
124,740,231 (GRCm39) |
unclassified |
probably benign |
|
|
R0599:Gtf2h3
|
UTSW |
5 |
124,726,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1512:Gtf2h3
|
UTSW |
5 |
124,728,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1727:Gtf2h3
|
UTSW |
5 |
124,728,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1880:Gtf2h3
|
UTSW |
5 |
124,722,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1881:Gtf2h3
|
UTSW |
5 |
124,722,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1929:Gtf2h3
|
UTSW |
5 |
124,740,262 (GRCm39) |
unclassified |
probably benign |
|
|
R2149:Gtf2h3
|
UTSW |
5 |
124,737,848 (GRCm39) |
unclassified |
probably benign |
|
|
R2359:Gtf2h3
|
UTSW |
5 |
124,728,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2993:Gtf2h3
|
UTSW |
5 |
124,721,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4399:Gtf2h3
|
UTSW |
5 |
124,740,126 (GRCm39) |
unclassified |
probably benign |
|
|
R4551:Gtf2h3
|
UTSW |
5 |
124,728,482 (GRCm39) |
intron |
probably benign |
|
|
R5282:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5289:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5566:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5567:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5569:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5570:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5581:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5583:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5709:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5967:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5968:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6036:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6050:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6518:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6519:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6520:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6526:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6528:Gtf2h3
|
UTSW |
5 |
124,722,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7176:Gtf2h3
|
UTSW |
5 |
124,728,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7184:Gtf2h3
|
UTSW |
5 |
124,722,067 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8262:Gtf2h3
|
UTSW |
5 |
124,728,967 (GRCm39) |
nonsense |
probably null |
|
|
R8270:Gtf2h3
|
UTSW |
5 |
124,734,050 (GRCm39) |
makesense |
probably null |
|
|
R8323:Gtf2h3
|
UTSW |
5 |
124,720,534 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8361:Gtf2h3
|
UTSW |
5 |
124,733,731 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8736:Gtf2h3
|
UTSW |
5 |
124,728,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gtf2h3
|
UTSW |
5 |
124,717,238 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCTCAGCCGGCTCTTATA -3'
(R):5'- ACAAAGCTGGGAGGCATGTA -3'
Sequencing Primer
(F):5'- CTCTTATACCCGGGGAAGAACG -3'
(R):5'- CTGGGAGGCATGTAGGGAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation