Incidental Mutation 'R6519:Gtf2h3'
ID |
520975 |
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 |
044646-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.954)
|
Stock # |
R6519 (G1)
|
Quality Score |
225.009 |
Status
|
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: 99.5%
- 10x: 97.5%
- 20x: 91.7%
|
Validation Efficiency |
97% (58/60) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4gnt |
T |
C |
9: 99,495,723 (GRCm39) |
I53T |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,715,462 (GRCm39) |
D909N |
probably benign |
Het |
Ahdc1 |
T |
C |
4: 132,792,079 (GRCm39) |
Y1107H |
possibly damaging |
Het |
Aldob |
A |
T |
4: 49,543,835 (GRCm39) |
V49E |
probably damaging |
Het |
Apol6 |
T |
A |
15: 76,935,476 (GRCm39) |
Y248* |
probably null |
Het |
Apol7b |
T |
A |
15: 77,307,548 (GRCm39) |
T316S |
probably benign |
Het |
Atp13a2 |
G |
C |
4: 140,728,165 (GRCm39) |
R503P |
possibly damaging |
Het |
Brca2 |
A |
C |
5: 150,464,444 (GRCm39) |
T1403P |
probably damaging |
Het |
Cblc |
T |
C |
7: 19,526,788 (GRCm39) |
Y148C |
probably damaging |
Het |
Cct7 |
C |
A |
6: 85,439,132 (GRCm39) |
Q149K |
probably benign |
Het |
Cd53 |
T |
A |
3: 106,669,461 (GRCm39) |
H179L |
probably benign |
Het |
Cyp2b19 |
A |
G |
7: 26,458,536 (GRCm39) |
T84A |
probably benign |
Het |
Cyp3a41a |
A |
G |
5: 145,652,308 (GRCm39) |
C64R |
probably damaging |
Het |
Dclre1c |
T |
C |
2: 3,430,366 (GRCm39) |
Y75H |
probably damaging |
Het |
Dhx35 |
A |
T |
2: 158,673,630 (GRCm39) |
I354F |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,203,771 (GRCm39) |
N629S |
probably damaging |
Het |
Dnase1 |
A |
T |
16: 3,856,453 (GRCm39) |
S132C |
probably damaging |
Het |
Dnttip2 |
T |
C |
3: 122,069,120 (GRCm39) |
S112P |
probably benign |
Het |
Eif4g3 |
C |
A |
4: 137,721,319 (GRCm39) |
P48T |
probably benign |
Het |
Fat4 |
A |
T |
3: 39,057,020 (GRCm39) |
T4239S |
probably benign |
Het |
Fbn2 |
A |
G |
18: 58,196,647 (GRCm39) |
V1419A |
possibly damaging |
Het |
Ghitm |
A |
C |
14: 36,847,204 (GRCm39) |
M290R |
probably damaging |
Het |
Glb1l |
T |
C |
1: 75,177,700 (GRCm39) |
D406G |
probably benign |
Het |
Glipr1l1 |
C |
A |
10: 111,898,153 (GRCm39) |
A86D |
probably benign |
Het |
Golm2 |
T |
C |
2: 121,737,218 (GRCm39) |
V141A |
probably benign |
Het |
Grm7 |
C |
T |
6: 111,184,713 (GRCm39) |
A348V |
probably benign |
Het |
Hdac2 |
T |
A |
10: 36,865,252 (GRCm39) |
N155K |
probably damaging |
Het |
Hus1b |
A |
G |
13: 31,130,930 (GRCm39) |
I243T |
probably benign |
Het |
Kcnab2 |
T |
C |
4: 152,496,450 (GRCm39) |
T65A |
probably damaging |
Het |
Lasp1 |
T |
A |
11: 97,706,383 (GRCm39) |
|
probably null |
Het |
Lrch3 |
G |
A |
16: 32,815,367 (GRCm39) |
|
probably benign |
Het |
Ltb4r2 |
C |
T |
14: 56,000,438 (GRCm39) |
T353M |
probably benign |
Het |
Macf1 |
A |
G |
4: 123,366,118 (GRCm39) |
M1316T |
probably benign |
Het |
Msr1 |
G |
A |
8: 40,077,262 (GRCm39) |
T116I |
probably benign |
Het |
Nlrp5 |
A |
G |
7: 23,117,343 (GRCm39) |
I356V |
probably benign |
Het |
Npy |
C |
T |
6: 49,800,669 (GRCm39) |
S31F |
possibly damaging |
Het |
Nsd3 |
C |
T |
8: 26,152,955 (GRCm39) |
P432S |
probably damaging |
Het |
Nup160 |
A |
C |
2: 90,548,561 (GRCm39) |
R1037S |
probably damaging |
Het |
Or12j4 |
T |
A |
7: 140,046,458 (GRCm39) |
S115T |
probably benign |
Het |
Or4b1d |
A |
T |
2: 89,969,156 (GRCm39) |
I109N |
possibly damaging |
Het |
Or8s5 |
C |
T |
15: 98,237,929 (GRCm39) |
G314R |
probably benign |
Het |
Pcx |
A |
G |
19: 4,652,239 (GRCm39) |
E108G |
possibly damaging |
Het |
Pecam1 |
A |
T |
11: 106,590,468 (GRCm39) |
M102K |
probably benign |
Het |
Pgd |
G |
T |
4: 149,235,343 (GRCm39) |
Y433* |
probably null |
Het |
Pkd1l3 |
A |
G |
8: 110,355,404 (GRCm39) |
E744G |
probably benign |
Het |
Rb1 |
A |
G |
14: 73,535,503 (GRCm39) |
I118T |
probably benign |
Het |
Rdh11 |
T |
A |
12: 79,229,589 (GRCm39) |
H228L |
probably damaging |
Het |
Rnf44 |
C |
T |
13: 54,829,599 (GRCm39) |
R340Q |
probably damaging |
Het |
Rtraf |
A |
G |
14: 19,869,998 (GRCm39) |
V88A |
possibly damaging |
Het |
Sigmar1 |
T |
C |
4: 41,739,380 (GRCm39) |
T185A |
possibly damaging |
Het |
Thsd1 |
A |
G |
8: 22,749,081 (GRCm39) |
R590G |
probably damaging |
Het |
Trappc14 |
A |
G |
5: 138,260,110 (GRCm39) |
S344P |
probably damaging |
Het |
Trbv19 |
T |
C |
6: 41,155,573 (GRCm39) |
|
probably benign |
Het |
Txnrd3 |
T |
C |
6: 89,631,405 (GRCm39) |
|
probably null |
Het |
Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
Xpnpep1 |
T |
C |
19: 53,000,275 (GRCm39) |
N192D |
possibly damaging |
Het |
Zfp955b |
T |
A |
17: 33,521,051 (GRCm39) |
S173R |
possibly damaging |
Het |
Zranb1 |
T |
A |
7: 132,551,857 (GRCm39) |
C195* |
probably null |
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 |
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 |
2018-06-06 |