Incidental Mutation 'R5967:Gtf2h3'
| ID |
470658 |
| 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 |
043248-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R5967 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
T |
A |
3: 116,587,357 (GRCm39) |
D66V |
probably benign |
Het |
| Agrn |
G |
A |
4: 156,259,560 (GRCm39) |
P792S |
probably damaging |
Het |
| Angptl2 |
A |
G |
2: 33,118,718 (GRCm39) |
N164S |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,967,434 (GRCm39) |
F4112L |
probably damaging |
Het |
| C8b |
A |
G |
4: 104,650,530 (GRCm39) |
E446G |
possibly damaging |
Het |
| Ceacam1 |
C |
T |
7: 25,174,167 (GRCm39) |
V163I |
probably damaging |
Het |
| Cngb1 |
T |
C |
8: 95,978,534 (GRCm39) |
K1068R |
probably damaging |
Het |
| Gna11 |
A |
G |
10: 81,366,643 (GRCm39) |
Y356H |
probably benign |
Het |
| Gnl2 |
A |
G |
4: 124,934,823 (GRCm39) |
M160V |
probably benign |
Het |
| Gpsm1 |
A |
G |
2: 26,230,546 (GRCm39) |
|
probably null |
Het |
| Grep1 |
C |
A |
17: 23,931,332 (GRCm39) |
G192W |
probably damaging |
Het |
| Kif20a |
G |
T |
18: 34,763,580 (GRCm39) |
R609L |
probably benign |
Het |
| Meis2 |
G |
A |
2: 115,694,790 (GRCm39) |
T444I |
probably benign |
Het |
| Muc17 |
T |
A |
5: 137,175,485 (GRCm39) |
I62L |
probably benign |
Het |
| Myorg |
G |
A |
4: 41,497,830 (GRCm39) |
A600V |
probably benign |
Het |
| Ncor2 |
C |
T |
5: 125,146,048 (GRCm39) |
D526N |
unknown |
Het |
| Nodal |
G |
T |
10: 61,259,446 (GRCm39) |
E294D |
probably damaging |
Het |
| Nup214 |
T |
C |
2: 31,869,790 (GRCm39) |
V161A |
possibly damaging |
Het |
| Or10a48 |
C |
T |
7: 108,424,921 (GRCm39) |
G95D |
probably benign |
Het |
| Or5k1b |
G |
T |
16: 58,580,725 (GRCm39) |
D271E |
probably damaging |
Het |
| Or5m11b |
G |
A |
2: 85,806,535 (GRCm39) |
R316H |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,590,669 (GRCm39) |
T990S |
unknown |
Het |
| Piwil2 |
A |
T |
14: 70,628,013 (GRCm39) |
M752K |
probably benign |
Het |
| Ppargc1b |
A |
G |
18: 61,431,837 (GRCm39) |
S1004P |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,411,333 (GRCm39) |
M805K |
probably damaging |
Het |
| Rad23a |
T |
C |
8: 85,565,568 (GRCm39) |
E30G |
probably damaging |
Het |
| Ralbp1 |
A |
G |
17: 66,171,274 (GRCm39) |
V233A |
probably benign |
Het |
| Scin |
C |
T |
12: 40,127,537 (GRCm39) |
E418K |
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,506,057 (GRCm39) |
I1611F |
probably damaging |
Het |
| Slit2 |
A |
T |
5: 48,142,506 (GRCm39) |
H42L |
probably damaging |
Het |
| Stard9 |
T |
A |
2: 120,537,375 (GRCm39) |
V4259D |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,403,039 (GRCm39) |
Y528F |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,675,168 (GRCm39) |
E107G |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,948,572 (GRCm39) |
T463A |
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 |
|
|
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 |
|
R5784: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 |
2017-03-31 |
Incidental Mutation