Incidental Mutation 'R6528:Gtf2h3'
| ID |
522064 |
| 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 |
044654-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R6528 (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: 97.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
C |
T |
8: 56,325,596 (GRCm39) |
R286H |
possibly damaging |
Het |
| Arhgap29 |
T |
A |
3: 121,808,351 (GRCm39) |
N1176K |
probably benign |
Het |
| Cacfd1 |
T |
G |
2: 26,908,951 (GRCm39) |
D97E |
probably benign |
Het |
| Ccnj |
C |
A |
19: 40,820,529 (GRCm39) |
|
probably null |
Het |
| Chad |
A |
G |
11: 94,456,450 (GRCm39) |
Y176C |
probably damaging |
Het |
| Chd5 |
T |
C |
4: 152,441,133 (GRCm39) |
L191P |
probably damaging |
Het |
| Cmtm1 |
T |
C |
8: 105,035,927 (GRCm39) |
D190G |
possibly damaging |
Het |
| Cyp3a16 |
C |
T |
5: 145,377,241 (GRCm39) |
A449T |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,790,896 (GRCm39) |
E1334G |
probably benign |
Het |
| Endou |
C |
T |
15: 97,617,510 (GRCm39) |
E147K |
probably damaging |
Het |
| Fbxo21 |
C |
A |
5: 118,138,421 (GRCm39) |
H449N |
probably benign |
Het |
| Fkbp15 |
A |
G |
4: 62,250,507 (GRCm39) |
I363T |
probably damaging |
Het |
| Gm12887 |
C |
A |
4: 121,472,834 (GRCm39) |
G103C |
probably damaging |
Het |
| Gm14410 |
T |
A |
2: 176,885,301 (GRCm39) |
H321L |
probably damaging |
Het |
| Irgm2 |
C |
T |
11: 58,110,878 (GRCm39) |
P202S |
probably benign |
Het |
| Khsrp |
G |
A |
17: 57,330,543 (GRCm39) |
T551I |
probably damaging |
Het |
| Lpin2 |
T |
A |
17: 71,551,000 (GRCm39) |
I720N |
probably damaging |
Het |
| Lypd8 |
G |
A |
11: 58,275,439 (GRCm39) |
G58E |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,713,780 (GRCm39) |
L1952F |
probably damaging |
Het |
| Med13 |
G |
A |
11: 86,189,780 (GRCm39) |
P1043L |
probably damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,380,317 (GRCm39) |
T3832A |
probably damaging |
Het |
| Nrxn3 |
C |
T |
12: 89,479,819 (GRCm39) |
R654C |
probably damaging |
Het |
| Or10a3m |
T |
C |
7: 108,312,638 (GRCm39) |
L14P |
probably damaging |
Het |
| Or12j3 |
G |
T |
7: 139,953,354 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Or13a22 |
A |
G |
7: 140,072,964 (GRCm39) |
M138V |
probably damaging |
Het |
| Or8k35 |
T |
C |
2: 86,424,809 (GRCm39) |
D121G |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,556 (GRCm39) |
D159G |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,058,630 (GRCm39) |
E3759G |
probably damaging |
Het |
| Plekho1 |
C |
T |
3: 95,896,633 (GRCm39) |
D236N |
probably damaging |
Het |
| Pnma1 |
T |
A |
12: 84,194,197 (GRCm39) |
I169F |
probably benign |
Het |
| Ppl |
T |
A |
16: 4,905,480 (GRCm39) |
H1605L |
probably benign |
Het |
| Ppp2r2b |
T |
A |
18: 42,821,403 (GRCm39) |
M252L |
probably benign |
Het |
| Pramel29 |
A |
G |
4: 143,935,381 (GRCm39) |
V120A |
probably damaging |
Het |
| Prickle4 |
T |
A |
17: 48,000,258 (GRCm39) |
R246* |
probably null |
Het |
| Rad50 |
G |
A |
11: 53,543,109 (GRCm39) |
T1235I |
probably damaging |
Het |
| Ranbp10 |
T |
C |
8: 106,506,588 (GRCm39) |
N244S |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,315,664 (GRCm39) |
S306P |
possibly damaging |
Het |
| Shox2 |
C |
A |
3: 66,888,618 (GRCm39) |
R91L |
probably benign |
Het |
| Tbx5 |
A |
G |
5: 120,021,176 (GRCm39) |
E394G |
probably damaging |
Het |
| Tcl1b5 |
A |
G |
12: 105,145,258 (GRCm39) |
N74S |
probably benign |
Het |
| Tgif1 |
G |
A |
17: 71,153,555 (GRCm39) |
|
probably benign |
Het |
| Tmem128 |
T |
A |
5: 38,423,843 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
G |
15: 27,805,956 (GRCm39) |
S511P |
probably damaging |
Het |
| Trps1 |
A |
G |
15: 50,685,823 (GRCm39) |
I114T |
probably benign |
Het |
| Ttll8 |
G |
T |
15: 88,798,441 (GRCm39) |
Q765K |
probably benign |
Het |
| Usp17ld |
A |
T |
7: 102,899,962 (GRCm39) |
D323E |
probably damaging |
Het |
| Vmn1r232 |
G |
A |
17: 21,134,309 (GRCm39) |
T97I |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,493,684 (GRCm39) |
R87S |
probably benign |
Het |
| Vps26b |
C |
G |
9: 26,921,762 (GRCm39) |
E254D |
probably benign |
Het |
| Vps8 |
C |
A |
16: 21,372,875 (GRCm39) |
Y113* |
probably null |
Het |
| Wwc1 |
C |
T |
11: 35,744,264 (GRCm39) |
E853K |
probably benign |
Het |
| Xcr1 |
A |
T |
9: 123,685,048 (GRCm39) |
I238N |
probably damaging |
Het |
| Zar1l |
T |
A |
5: 150,430,595 (GRCm39) |
E272V |
probably damaging |
Het |
| Zfp451 |
A |
G |
1: 33,816,862 (GRCm39) |
Y146H |
probably damaging |
Het |
| Zfp54 |
G |
T |
17: 21,653,736 (GRCm39) |
E77* |
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 |
|
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 |
|
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 |
Incidental Mutation