Incidental Mutation 'IGL03097:Gtf2h3'
ID |
453209 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gtf2h3
|
Ensembl Gene |
ENSMUSG00000029387 |
Gene Name |
general transcription factor IIH, polypeptide 3 |
Synonyms |
5033417D07Rik, BTF2, D5Ertd679e, 34kDa |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.954)
|
Stock # |
IGL03097 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
124717211-124735743 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 124740231 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031333
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031333]
|
AlphaFold |
Q8VD76 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031333
|
SMART Domains |
Protein: ENSMUSP00000031333 Gene: ENSMUSG00000029387
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: ENSMUST00000100706
|
SMART Domains |
Protein: ENSMUSP00000098272 Gene: ENSMUSG00000029386
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:DUF1619
|
171 |
442 |
6.8e-75 |
PFAM |
low complexity region
|
669 |
681 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125191
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130912
|
SMART Domains |
Protein: ENSMUSP00000114298 Gene: ENSMUSG00000029386
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:DUF1619
|
171 |
442 |
1.5e-75 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132090
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140953
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152822
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185820
|
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
90% (46/51) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
Adcy9 |
T |
C |
16: 4,235,930 (GRCm39) |
T257A |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,979,751 (GRCm39) |
D345G |
probably benign |
Het |
Ak5 |
A |
G |
3: 152,366,151 (GRCm39) |
|
probably null |
Het |
Akap3 |
A |
G |
6: 126,843,379 (GRCm39) |
K666R |
probably damaging |
Het |
Alpk3 |
A |
G |
7: 80,743,657 (GRCm39) |
N1158S |
probably benign |
Het |
Atp23 |
A |
T |
10: 126,723,556 (GRCm39) |
V182E |
probably damaging |
Het |
Atp4a |
A |
G |
7: 30,422,462 (GRCm39) |
D898G |
probably benign |
Het |
Bnip3 |
T |
C |
7: 138,496,208 (GRCm39) |
N140S |
probably damaging |
Het |
Bptf |
T |
C |
11: 106,968,506 (GRCm39) |
Y1059C |
probably damaging |
Het |
Cacna1h |
A |
T |
17: 25,610,118 (GRCm39) |
I796N |
probably damaging |
Het |
Ccnb2 |
A |
G |
9: 70,316,678 (GRCm39) |
|
probably benign |
Het |
Cd3g |
T |
A |
9: 44,882,061 (GRCm39) |
D165V |
probably damaging |
Het |
Cfap70 |
T |
C |
14: 20,498,676 (GRCm39) |
T4A |
probably benign |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Cntn4 |
C |
T |
6: 106,330,673 (GRCm39) |
T97M |
probably benign |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Crim1 |
C |
T |
17: 78,675,227 (GRCm39) |
T812I |
probably benign |
Het |
Csmd1 |
G |
T |
8: 15,995,127 (GRCm39) |
T2636K |
probably damaging |
Het |
Cyp39a1 |
T |
A |
17: 43,993,941 (GRCm39) |
Y200* |
probably null |
Het |
Dlg4 |
T |
G |
11: 69,933,028 (GRCm39) |
I478S |
probably damaging |
Het |
Dsc3 |
A |
T |
18: 20,107,105 (GRCm39) |
N505K |
probably benign |
Het |
Efhc1 |
T |
C |
1: 21,043,049 (GRCm39) |
W323R |
probably damaging |
Het |
Ehhadh |
T |
A |
16: 21,581,520 (GRCm39) |
I491L |
probably benign |
Het |
Ggt6 |
T |
G |
11: 72,327,639 (GRCm39) |
H148Q |
possibly damaging |
Het |
Gstm3 |
T |
C |
3: 107,876,117 (GRCm39) |
D25G |
probably benign |
Het |
Hjurp |
TGGG |
TTGCGGG |
1: 88,194,002 (GRCm39) |
|
probably benign |
Het |
Hnf4g |
A |
C |
3: 3,716,674 (GRCm39) |
E281A |
probably damaging |
Het |
Impg1 |
T |
G |
9: 80,287,234 (GRCm39) |
E404A |
possibly damaging |
Het |
Kcna2 |
T |
C |
3: 107,012,715 (GRCm39) |
V432A |
probably benign |
Het |
Map3k2 |
T |
G |
18: 32,333,070 (GRCm39) |
D81E |
probably benign |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mmp9 |
T |
A |
2: 164,792,726 (GRCm39) |
|
probably null |
Het |
Mroh2a |
G |
A |
1: 88,163,098 (GRCm39) |
R376H |
probably benign |
Het |
Ms4a1 |
G |
T |
19: 11,230,556 (GRCm39) |
T215N |
probably benign |
Het |
Pam16 |
T |
C |
16: 4,434,458 (GRCm39) |
I111V |
probably benign |
Het |
Pde6c |
A |
G |
19: 38,166,719 (GRCm39) |
T720A |
probably damaging |
Het |
Pgap2 |
T |
C |
7: 101,885,434 (GRCm39) |
L100P |
probably damaging |
Het |
Ppl |
T |
A |
16: 4,914,590 (GRCm39) |
S686C |
probably damaging |
Het |
Rnls |
A |
G |
19: 33,115,679 (GRCm39) |
|
probably benign |
Het |
Robo3 |
A |
C |
9: 37,333,824 (GRCm39) |
|
probably null |
Het |
Rptn |
G |
A |
3: 93,304,680 (GRCm39) |
G671D |
probably damaging |
Het |
Slc6a21 |
C |
T |
7: 44,937,592 (GRCm39) |
Q628* |
probably null |
Het |
Smg6 |
T |
G |
11: 74,823,252 (GRCm39) |
I708S |
probably damaging |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Thap1 |
C |
G |
8: 26,652,498 (GRCm39) |
P79A |
probably benign |
Het |
Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
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 |
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 |
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'- GCTGTGTTTCCCTTCCAGAG -3'
(R):5'- TTTAGGAAGGCAAGAGAGACTC -3'
Sequencing Primer
(F):5'- AGCACGCTGGAAGTGACC -3'
(R):5'- CAAGGCAGCTCTGTGAGTTCAATC -3'
|
Posted On |
2017-01-31 |