Incidental Mutation 'R8262:Gtf2h3'
| ID |
639850 |
| 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 |
067687-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R8262 (G1)
|
| Quality Score |
134.008 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124717211-124735743 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 124728967 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 175
(Y175*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031333]
|
| AlphaFold |
Q8VD76 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031333
AA Change: Y175*
|
| SMART Domains |
Protein: ENSMUSP00000031333
Gene: ENSMUSG00000029387
AA Change: Y175*
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
98% (58/59) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
C |
6: 23,107,709 (GRCm39) |
D358G |
possibly damaging |
Het |
| Adam26a |
A |
T |
8: 44,022,178 (GRCm39) |
C437* |
probably null |
Het |
| Arhgap10 |
A |
T |
8: 78,037,468 (GRCm39) |
C587S |
probably benign |
Het |
| Bank1 |
G |
A |
3: 135,948,721 (GRCm39) |
T285I |
probably benign |
Het |
| Bhlha15 |
C |
T |
5: 144,128,257 (GRCm39) |
S123L |
probably damaging |
Het |
| Cacul1 |
T |
C |
19: 60,517,475 (GRCm39) |
*305W |
probably null |
Het |
| Cep112 |
A |
C |
11: 108,393,977 (GRCm39) |
K365T |
probably damaging |
Het |
| Chrm1 |
T |
A |
19: 8,656,453 (GRCm39) |
L386Q |
probably damaging |
Het |
| Cnbp |
C |
A |
6: 87,822,194 (GRCm39) |
R110L |
probably damaging |
Het |
| Cntnap5a |
A |
T |
1: 116,116,140 (GRCm39) |
I541F |
possibly damaging |
Het |
| Dscaml1 |
T |
G |
9: 45,658,438 (GRCm39) |
|
probably benign |
Het |
| Enpp3 |
C |
T |
10: 24,653,824 (GRCm39) |
S711N |
probably damaging |
Het |
| Eps8 |
G |
T |
6: 137,459,252 (GRCm39) |
N750K |
probably benign |
Het |
| Fan1 |
G |
T |
7: 64,023,054 (GRCm39) |
N66K |
probably benign |
Het |
| Fbf1 |
G |
A |
11: 116,044,845 (GRCm39) |
T323I |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,127,517 (GRCm39) |
N2143I |
unknown |
Het |
| Fn3k |
A |
C |
11: 121,339,744 (GRCm39) |
T169P |
probably benign |
Het |
| Fubp1 |
T |
G |
3: 151,926,356 (GRCm39) |
I320R |
probably damaging |
Het |
| Gfpt2 |
A |
T |
11: 49,714,607 (GRCm39) |
E335D |
probably benign |
Het |
| Gm17472 |
T |
C |
6: 42,957,968 (GRCm39) |
I79T |
probably benign |
Het |
| Gpr151 |
C |
A |
18: 42,711,437 (GRCm39) |
E414* |
probably null |
Het |
| Gpr179 |
G |
A |
11: 97,226,983 (GRCm39) |
S1724L |
probably benign |
Het |
| Hal |
T |
A |
10: 93,328,369 (GRCm39) |
I215N |
probably damaging |
Het |
| Htt |
A |
G |
5: 35,053,304 (GRCm39) |
T2546A |
probably benign |
Het |
| Ighv1-11 |
T |
C |
12: 114,576,077 (GRCm39) |
Y46C |
probably damaging |
Het |
| Lcn4 |
T |
C |
2: 26,558,375 (GRCm39) |
D170G |
probably benign |
Het |
| Lrch1 |
T |
A |
14: 75,055,935 (GRCm39) |
D306V |
probably damaging |
Het |
| Mtcl1 |
A |
C |
17: 66,650,653 (GRCm39) |
V1604G |
probably damaging |
Het |
| Or10g3b |
T |
C |
14: 52,586,625 (GRCm39) |
N293D |
probably damaging |
Het |
| Or3a10 |
A |
G |
11: 73,935,926 (GRCm39) |
L58P |
probably damaging |
Het |
| Or4c108 |
T |
G |
2: 88,803,552 (GRCm39) |
S228R |
probably damaging |
Het |
| Or4k49 |
T |
G |
2: 111,494,587 (GRCm39) |
N5K |
possibly damaging |
Het |
| Or9i1b |
G |
A |
19: 13,897,226 (GRCm39) |
V281I |
probably benign |
Het |
| Ormdl2 |
A |
G |
10: 128,654,837 (GRCm39) |
L125P |
possibly damaging |
Het |
| Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
| Pde3a |
T |
A |
6: 141,433,527 (GRCm39) |
F803Y |
possibly damaging |
Het |
| Pnpla7 |
C |
T |
2: 24,873,635 (GRCm39) |
R214W |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,813,520 (GRCm39) |
V960A |
probably benign |
Het |
| Ptgdr |
T |
C |
14: 45,090,858 (GRCm39) |
E300G |
probably benign |
Het |
| Ptpru |
G |
T |
4: 131,522,274 (GRCm39) |
Y710* |
probably null |
Het |
| Pxdn |
T |
A |
12: 30,049,195 (GRCm39) |
Y620* |
probably null |
Het |
| Pycard |
T |
C |
7: 127,592,797 (GRCm39) |
D10G |
possibly damaging |
Het |
| Sh3d21 |
G |
T |
4: 126,055,775 (GRCm39) |
Q160K |
probably benign |
Het |
| Slc26a7 |
G |
A |
4: 14,621,269 (GRCm39) |
P39L |
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,068,928 (GRCm39) |
Y936N |
probably damaging |
Het |
| Sox8 |
T |
C |
17: 25,786,617 (GRCm39) |
D362G |
possibly damaging |
Het |
| Tcp11 |
T |
G |
17: 28,286,001 (GRCm39) |
N538T |
probably damaging |
Het |
| Tent2 |
T |
C |
13: 93,310,997 (GRCm39) |
|
probably benign |
Het |
| Tmem132e |
A |
C |
11: 82,325,666 (GRCm39) |
E222A |
probably benign |
Het |
| Trpc7 |
T |
C |
13: 56,937,602 (GRCm39) |
E618G |
probably benign |
Het |
| Tsc2 |
G |
T |
17: 24,833,340 (GRCm39) |
Q695K |
probably benign |
Het |
| Txlnb |
C |
A |
10: 17,718,752 (GRCm39) |
L528M |
possibly damaging |
Het |
| Vmn1r176 |
A |
G |
7: 23,534,878 (GRCm39) |
Y92H |
probably benign |
Het |
| Vmn2r85 |
T |
A |
10: 130,254,738 (GRCm39) |
I649F |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,171,272 (GRCm39) |
|
probably null |
Het |
| Wrn |
A |
T |
8: 33,814,274 (GRCm39) |
I390N |
probably benign |
Het |
| Zfp493 |
T |
A |
13: 67,934,976 (GRCm39) |
C310S |
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 |
|
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 |
|
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'- ATGAAGCTCTGGTGTCATCC -3'
(R):5'- TGTGCAAGAATGACAATGATCACC -3'
Sequencing Primer
(F):5'- ATGAAGCTCTGGTGTCATCCTTTAC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation