Incidental Mutation 'R2359:Gtf2h3'
| ID |
247062 |
| 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 |
040341-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R2359 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124717211-124735743 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124728939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 166
(K166R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031333]
|
| AlphaFold |
Q8VD76 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031333
AA Change: K166R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031333
Gene: ENSMUSG00000029387
AA Change: K166R
| 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: ENSMUST00000142746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143810
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153436
|
| Meta Mutation Damage Score |
0.2839 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
95% (41/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
G |
8: 41,133,984 (GRCm39) |
E484G |
possibly damaging |
Het |
| Akr1c20 |
C |
T |
13: 4,573,276 (GRCm39) |
G13D |
probably damaging |
Het |
| Alkbh3 |
T |
C |
2: 93,838,458 (GRCm39) |
T38A |
probably benign |
Het |
| Anxa9 |
A |
C |
3: 95,210,062 (GRCm39) |
L99R |
probably damaging |
Het |
| Arfgef2 |
A |
T |
2: 166,702,539 (GRCm39) |
Y826F |
probably damaging |
Het |
| Arid2 |
G |
T |
15: 96,259,759 (GRCm39) |
L306F |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 77,000,746 (GRCm39) |
V29M |
probably damaging |
Het |
| Cd55b |
A |
G |
1: 130,345,858 (GRCm39) |
S187P |
probably damaging |
Het |
| Cep63 |
A |
C |
9: 102,471,763 (GRCm39) |
L526V |
possibly damaging |
Het |
| Chtf8 |
G |
T |
8: 107,612,048 (GRCm39) |
|
probably null |
Het |
| Clca4b |
T |
A |
3: 144,631,003 (GRCm39) |
S286C |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,481,873 (GRCm39) |
V1080A |
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,176,976 (GRCm39) |
V165I |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,766,398 (GRCm39) |
V399E |
probably damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,951,599 (GRCm39) |
S659P |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,630,106 (GRCm39) |
S967P |
possibly damaging |
Het |
| Efr3b |
G |
A |
12: 4,030,136 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
A |
G |
4: 136,673,343 (GRCm39) |
I147T |
probably damaging |
Het |
| Fbxo48 |
G |
A |
11: 16,903,602 (GRCm39) |
W76* |
probably null |
Het |
| Ggt6 |
A |
T |
11: 72,328,377 (GRCm39) |
L254F |
possibly damaging |
Het |
| Gm4204 |
T |
A |
1: 135,159,927 (GRCm39) |
|
noncoding transcript |
Het |
| Golph3l |
A |
G |
3: 95,499,275 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
A |
G |
12: 110,661,003 (GRCm39) |
|
probably null |
Het |
| Hyi |
A |
G |
4: 118,217,538 (GRCm39) |
R79G |
probably benign |
Het |
| Igbp1b |
G |
A |
6: 138,634,713 (GRCm39) |
P244S |
probably damaging |
Het |
| Ipo8 |
G |
A |
6: 148,717,975 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
C |
A |
13: 9,208,199 (GRCm39) |
T391K |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,256,057 (GRCm39) |
V1133A |
probably benign |
Het |
| Med13 |
C |
T |
11: 86,181,861 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,156,379 (GRCm39) |
|
probably benign |
Het |
| Neurl1b |
T |
C |
17: 26,660,569 (GRCm39) |
F299L |
probably benign |
Het |
| Nosip |
G |
A |
7: 44,723,450 (GRCm39) |
A39T |
possibly damaging |
Het |
| Nsd1 |
A |
G |
13: 55,361,524 (GRCm39) |
D164G |
possibly damaging |
Het |
| Ntn1 |
G |
A |
11: 68,276,438 (GRCm39) |
T170M |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,572,396 (GRCm39) |
L1079Q |
probably damaging |
Het |
| Prxl2c |
A |
T |
13: 64,460,465 (GRCm39) |
C12S |
probably benign |
Het |
| Rab30 |
A |
G |
7: 92,485,005 (GRCm39) |
D129G |
possibly damaging |
Het |
| Rwdd2b |
C |
T |
16: 87,233,809 (GRCm39) |
S97N |
probably benign |
Het |
| Slitrk3 |
T |
G |
3: 72,956,678 (GRCm39) |
D698A |
possibly damaging |
Het |
| Smarcd2 |
T |
C |
11: 106,157,990 (GRCm39) |
M93V |
probably benign |
Het |
| Tmprss4 |
A |
G |
9: 45,097,130 (GRCm39) |
V45A |
probably benign |
Het |
| Vmn1r22 |
A |
T |
6: 57,877,974 (GRCm39) |
M1K |
probably null |
Het |
| Vps13a |
A |
G |
19: 16,630,043 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
R5784: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'- TGCCTATCAGTCTAACAAGGACC -3'
(R):5'- TGCAAGAATGACAATGATCACC -3'
Sequencing Primer
(F):5'- GACCATGAAGCTCTGGTGTCATC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation