Incidental Mutation 'IGL01611:Gtf2h3'
ID |
92082 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01611
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
124717211-124735743 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 124733748 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 274
(S274P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031333
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031333]
|
AlphaFold |
Q8VD76 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031333
AA Change: S274P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000031333 Gene: ENSMUSG00000029387 AA Change: S274P
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: ENSMUST00000126466
|
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: ENSMUST00000143810
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142746
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152822
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185820
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153436
|
Coding Region Coverage |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
A |
G |
12: 72,954,644 (GRCm39) |
L209S |
possibly damaging |
Het |
Abcc2 |
G |
T |
19: 43,815,068 (GRCm39) |
V1152F |
probably damaging |
Het |
Adam9 |
C |
T |
8: 25,457,212 (GRCm39) |
V639I |
probably benign |
Het |
Cdc6 |
A |
G |
11: 98,805,989 (GRCm39) |
I388V |
probably benign |
Het |
Chrm5 |
C |
T |
2: 112,310,651 (GRCm39) |
W155* |
probably null |
Het |
Chrna9 |
A |
G |
5: 66,128,287 (GRCm39) |
D161G |
probably damaging |
Het |
Det1 |
A |
G |
7: 78,477,702 (GRCm39) |
V541A |
possibly damaging |
Het |
Efhc1 |
G |
T |
1: 21,060,911 (GRCm39) |
*649L |
probably null |
Het |
Ehbp1 |
C |
T |
11: 22,122,883 (GRCm39) |
V146M |
probably damaging |
Het |
Enam |
A |
C |
5: 88,651,608 (GRCm39) |
D1039A |
probably damaging |
Het |
Fam20b |
A |
T |
1: 156,530,035 (GRCm39) |
V133E |
probably benign |
Het |
Frem2 |
T |
A |
3: 53,563,130 (GRCm39) |
Q459L |
probably benign |
Het |
Gapdhs |
C |
T |
7: 30,429,866 (GRCm39) |
|
probably benign |
Het |
Gm3404 |
T |
A |
5: 146,465,157 (GRCm39) |
V299D |
possibly damaging |
Het |
Gorasp2 |
C |
A |
2: 70,519,604 (GRCm39) |
H310N |
possibly damaging |
Het |
Gpr157 |
T |
C |
4: 150,186,094 (GRCm39) |
S219P |
possibly damaging |
Het |
Gpt2 |
T |
A |
8: 86,246,167 (GRCm39) |
C375* |
probably null |
Het |
Hmg20b |
C |
T |
10: 81,183,309 (GRCm39) |
V83M |
probably benign |
Het |
Igf2r |
G |
T |
17: 12,944,302 (GRCm39) |
Y400* |
probably null |
Het |
Ipo9 |
A |
T |
1: 135,314,431 (GRCm39) |
W942R |
possibly damaging |
Het |
Iqch |
T |
C |
9: 63,403,519 (GRCm39) |
|
probably null |
Het |
Kcnh3 |
T |
C |
15: 99,127,383 (GRCm39) |
L393P |
probably benign |
Het |
Kcnk12 |
T |
A |
17: 88,104,495 (GRCm39) |
I130L |
probably benign |
Het |
Lcorl |
T |
C |
5: 45,904,434 (GRCm39) |
T205A |
probably damaging |
Het |
Lpar6 |
G |
T |
14: 73,476,878 (GRCm39) |
A280S |
probably damaging |
Het |
Mgarp |
A |
T |
3: 51,296,570 (GRCm39) |
V152E |
probably damaging |
Het |
Pard3b |
A |
G |
1: 62,677,021 (GRCm39) |
D1184G |
probably damaging |
Het |
Pcnt |
A |
G |
10: 76,272,258 (GRCm39) |
|
probably null |
Het |
Pde6b |
A |
G |
5: 108,551,262 (GRCm39) |
N182S |
possibly damaging |
Het |
Pom121 |
T |
C |
5: 135,412,526 (GRCm39) |
K516E |
unknown |
Het |
Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
Ptpn18 |
T |
C |
1: 34,498,898 (GRCm39) |
|
probably benign |
Het |
Rapgef5 |
C |
T |
12: 117,717,154 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,606,202 (GRCm39) |
L4460S |
possibly damaging |
Het |
Sema6b |
T |
C |
17: 56,436,969 (GRCm39) |
|
probably null |
Het |
Serpinb6d |
T |
A |
13: 33,850,375 (GRCm39) |
C67* |
probably null |
Het |
Sorbs2 |
T |
G |
8: 46,248,381 (GRCm39) |
V510G |
probably null |
Het |
Spic |
T |
A |
10: 88,511,864 (GRCm39) |
I131F |
possibly damaging |
Het |
Spire2 |
T |
C |
8: 124,086,137 (GRCm39) |
S290P |
probably damaging |
Het |
Tas2r117 |
C |
T |
6: 132,780,447 (GRCm39) |
S195F |
probably benign |
Het |
Tas2r117 |
T |
C |
6: 132,780,450 (GRCm39) |
V196A |
probably damaging |
Het |
Tff1 |
C |
T |
17: 31,381,703 (GRCm39) |
G58D |
probably damaging |
Het |
Tmprss11g |
T |
C |
5: 86,638,640 (GRCm39) |
T283A |
probably benign |
Het |
Toporsl |
T |
A |
4: 52,610,794 (GRCm39) |
L229H |
probably damaging |
Het |
Vmn2r80 |
G |
A |
10: 79,007,488 (GRCm39) |
G488D |
probably damaging |
Het |
Vps54 |
T |
A |
11: 21,261,082 (GRCm39) |
V583D |
probably damaging |
Het |
Vwa1 |
T |
C |
4: 155,855,255 (GRCm39) |
E286G |
possibly damaging |
Het |
Vwde |
A |
T |
6: 13,219,977 (GRCm39) |
I58N |
probably damaging |
Het |
Zbtb11 |
T |
C |
16: 55,800,973 (GRCm39) |
V109A |
probably damaging |
Het |
Zfp319 |
C |
T |
8: 96,055,540 (GRCm39) |
R221Q |
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 |
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 |
|
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 |
|
|
Posted On |
2013-12-09 |