Incidental Mutation 'R8270:Gtf2h3'
| ID |
639434 |
| 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 |
067694-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R8270 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124717211-124735743 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 124734050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 310
(*310W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031333]
|
| AlphaFold |
Q8VD76 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031333
AA Change: *310W
|
| SMART Domains |
Protein: ENSMUSP00000031333
Gene: ENSMUSG00000029387
AA Change: *310W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tfb4
|
8 |
287 |
2.1e-108 |
PFAM |
|
low complexity region
|
299 |
306 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
98% (52/53) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,651,163 (GRCm39) |
T3044I |
probably damaging |
Het |
| Apbb1ip |
C |
T |
2: 22,765,004 (GRCm39) |
P562S |
unknown |
Het |
| Arhgap44 |
A |
G |
11: 64,912,860 (GRCm39) |
M477T |
possibly damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,882,354 (GRCm39) |
T1497A |
probably benign |
Het |
| Atp5pd |
T |
C |
11: 115,307,698 (GRCm39) |
D91G |
probably damaging |
Het |
| Atp6v0a4 |
A |
G |
6: 38,051,164 (GRCm39) |
F405L |
probably damaging |
Het |
| Bicc1 |
T |
A |
10: 70,767,938 (GRCm39) |
T893S |
probably damaging |
Het |
| Cacna1i |
T |
A |
15: 80,257,835 (GRCm39) |
C1122S |
probably damaging |
Het |
| Capn7 |
A |
G |
14: 31,080,636 (GRCm39) |
E369G |
probably damaging |
Het |
| Cass4 |
T |
A |
2: 172,269,589 (GRCm39) |
L557Q |
probably damaging |
Het |
| Cdh5 |
A |
G |
8: 104,839,672 (GRCm39) |
I48V |
probably benign |
Het |
| Crisp3 |
T |
C |
17: 40,546,813 (GRCm39) |
K35R |
probably benign |
Het |
| Csde1 |
G |
A |
3: 102,946,071 (GRCm39) |
A22T |
possibly damaging |
Het |
| Ctse |
T |
C |
1: 131,595,877 (GRCm39) |
Y190H |
probably damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,504,988 (GRCm39) |
D24V |
possibly damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,167,658 (GRCm39) |
Y981* |
probably null |
Het |
| Dclre1a |
G |
A |
19: 56,533,382 (GRCm39) |
T404I |
possibly damaging |
Het |
| Dmc1 |
T |
C |
15: 79,485,746 (GRCm39) |
D23G |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 31,059,687 (GRCm39) |
T4429M |
probably damaging |
Het |
| Esf1 |
A |
T |
2: 139,997,033 (GRCm39) |
|
probably benign |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Fn3k |
A |
T |
11: 121,330,137 (GRCm39) |
M107L |
probably benign |
Het |
| Fxyd5 |
A |
G |
7: 30,740,854 (GRCm39) |
L10P |
probably damaging |
Het |
| Gm21958 |
G |
A |
3: 54,621,633 (GRCm39) |
|
probably benign |
Het |
| Gm4922 |
C |
T |
10: 18,659,760 (GRCm39) |
D321N |
probably benign |
Het |
| Hapln2 |
G |
A |
3: 87,930,851 (GRCm39) |
T180I |
possibly damaging |
Het |
| Herc1 |
T |
G |
9: 66,395,232 (GRCm39) |
V4189G |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,379,875 (GRCm39) |
V1166A |
probably damaging |
Het |
| Kcnk10 |
T |
C |
12: 98,401,358 (GRCm39) |
N439S |
|
Het |
| Klhl3 |
A |
T |
13: 58,260,968 (GRCm39) |
M15K |
|
Het |
| Klk1b26 |
A |
T |
7: 43,665,544 (GRCm39) |
T151S |
probably benign |
Het |
| Krtap5-1 |
C |
A |
7: 141,850,199 (GRCm39) |
C176F |
unknown |
Het |
| Krtap5-3 |
T |
A |
7: 141,755,693 (GRCm39) |
C177S |
unknown |
Het |
| Lrrc37 |
T |
C |
11: 103,434,141 (GRCm39) |
I3009M |
unknown |
Het |
| Map1a |
T |
C |
2: 121,129,501 (GRCm39) |
F180L |
probably damaging |
Het |
| Mfap5 |
T |
C |
6: 122,498,889 (GRCm39) |
|
probably null |
Het |
| Nckap1 |
T |
A |
2: 80,355,008 (GRCm39) |
H638L |
possibly damaging |
Het |
| Optc |
C |
T |
1: 133,832,810 (GRCm39) |
V97M |
probably benign |
Het |
| Or5p78 |
T |
A |
7: 108,212,150 (GRCm39) |
I212N |
probably benign |
Het |
| Or8b46 |
T |
G |
9: 38,450,644 (GRCm39) |
M151R |
noncoding transcript |
Het |
| Piezo1 |
A |
G |
8: 123,228,298 (GRCm39) |
Y330H |
|
Het |
| Ppp1r12b |
G |
T |
1: 134,803,886 (GRCm39) |
N424K |
probably benign |
Het |
| Prdm5 |
T |
A |
6: 65,913,058 (GRCm39) |
F580L |
probably damaging |
Het |
| Prr27 |
A |
C |
5: 87,994,171 (GRCm39) |
K348N |
possibly damaging |
Het |
| Prr30 |
A |
G |
14: 101,435,822 (GRCm39) |
Y247H |
possibly damaging |
Het |
| Rbks |
A |
T |
5: 31,807,810 (GRCm39) |
|
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,099,535 (GRCm39) |
V336A |
possibly damaging |
Het |
| Serac1 |
A |
T |
17: 6,101,033 (GRCm39) |
L457H |
probably damaging |
Het |
| Serpina1f |
A |
G |
12: 103,659,757 (GRCm39) |
I175T |
probably damaging |
Het |
| Smr2l |
T |
C |
5: 88,430,383 (GRCm39) |
V93A |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,426,897 (GRCm39) |
H242L |
probably benign |
Het |
| Tcaf2 |
A |
T |
6: 42,606,958 (GRCm39) |
M332K |
probably benign |
Het |
| Tnrc6a |
T |
A |
7: 122,769,294 (GRCm39) |
N361K |
possibly damaging |
Het |
| Trim43b |
G |
T |
9: 88,967,458 (GRCm39) |
H393N |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,176,838 (GRCm39) |
L1334S |
probably benign |
Het |
| Usp35 |
T |
C |
7: 96,961,551 (GRCm39) |
E625G |
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 |
|
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 |
|
|
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'- TGCAATTTCAGCCCCATCTG -3'
(R):5'- TGGGCTTCAAAACCCAGCAC -3'
Sequencing Primer
(F):5'- CCCATCTGCACCACGTG -3'
(R):5'- ACAGCTTAGCATCTGCCAGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation