Incidental Mutation 'IGL00886:Gtf2h4'
| ID |
29230 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gtf2h4
|
| Ensembl Gene |
ENSMUSG00000001524 |
| Gene Name |
general transcription factor II H, polypeptide 4 |
| Synonyms |
p52 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
IGL00886
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
35978624-35984607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35980874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 265
(H265R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001565]
[ENSMUST00000043674]
[ENSMUST00000159852]
[ENSMUST00000160039]
[ENSMUST00000160734]
[ENSMUST00000160752]
[ENSMUST00000162266]
[ENSMUST00000165144]
|
| AlphaFold |
O70422 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001565
AA Change: H265R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001565
Gene: ENSMUSG00000001524
AA Change: H265R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tfb2
|
22 |
375 |
6.4e-141 |
PFAM |
|
PDB:3DOM|C
|
383 |
459 |
7e-13 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043674
|
| SMART Domains |
Protein: ENSMUSP00000047917
Gene: ENSMUSG00000038838
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:tRNA-synt_1
|
112 |
736 |
3.3e-179 |
PFAM |
|
Pfam:tRNA-synt_1g
|
141 |
221 |
2e-8 |
PFAM |
|
Pfam:Anticodon_1
|
780 |
932 |
3.6e-32 |
PFAM |
|
low complexity region
|
1005 |
1015 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159671
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159852
|
| SMART Domains |
Protein: ENSMUSP00000124060
Gene: ENSMUSG00000001524
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tfb2
|
22 |
61 |
1.6e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160039
|
| SMART Domains |
Protein: ENSMUSP00000124683
Gene: ENSMUSG00000001524
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tfb2
|
22 |
164 |
2.9e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160711
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160734
AA Change: H265R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124335
Gene: ENSMUSG00000001524
AA Change: H265R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tfb2
|
22 |
375 |
1.9e-137 |
PFAM |
|
PDB:3DOM|C
|
383 |
459 |
7e-13 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162927
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165787
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162604
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160752
|
| SMART Domains |
Protein: ENSMUSP00000124458
Gene: ENSMUSG00000001524
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tfb2
|
22 |
160 |
6.4e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162266
|
| SMART Domains |
Protein: ENSMUSP00000124103
Gene: ENSMUSG00000001524
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tfb2
|
22 |
91 |
1.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165144
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a subunit of the general transcription factor multiprotein complex that plays roles in basal transcription, DNA repair and cell cycle control. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
C |
T |
11: 110,054,101 (GRCm39) |
R67H |
possibly damaging |
Het |
| Ak4 |
G |
T |
4: 101,304,386 (GRCm39) |
E59* |
probably null |
Het |
| Ano10 |
T |
C |
9: 122,100,390 (GRCm39) |
N116S |
probably benign |
Het |
| Arid1b |
T |
A |
17: 5,177,254 (GRCm39) |
H658Q |
probably damaging |
Het |
| Atf2 |
G |
A |
2: 73,675,847 (GRCm39) |
T208I |
possibly damaging |
Het |
| Bco1 |
T |
C |
8: 117,857,376 (GRCm39) |
W448R |
probably damaging |
Het |
| Cel |
A |
T |
2: 28,449,397 (GRCm39) |
C277S |
probably damaging |
Het |
| Chd5 |
T |
A |
4: 152,444,156 (GRCm39) |
D296E |
probably benign |
Het |
| Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
| Fmo9 |
T |
C |
1: 166,507,714 (GRCm39) |
|
probably null |
Het |
| Gdpgp1 |
T |
G |
7: 79,889,100 (GRCm39) |
L377R |
probably damaging |
Het |
| Gm26938 |
T |
A |
5: 139,812,091 (GRCm39) |
D3V |
probably damaging |
Het |
| Gpld1 |
T |
A |
13: 25,146,336 (GRCm39) |
Y193* |
probably null |
Het |
| Hadh |
G |
T |
3: 131,043,465 (GRCm39) |
T83K |
probably benign |
Het |
| Hao1 |
T |
C |
2: 134,365,079 (GRCm39) |
M183V |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ift88 |
T |
C |
14: 57,715,525 (GRCm39) |
Y523H |
probably damaging |
Het |
| Il23r |
G |
T |
6: 67,450,874 (GRCm39) |
Q202K |
possibly damaging |
Het |
| Iyd |
T |
C |
10: 3,540,444 (GRCm38) |
D50A |
probably benign |
Het |
| Katnal2 |
A |
T |
18: 77,090,450 (GRCm39) |
L248Q |
probably damaging |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,267 (GRCm39) |
V118E |
possibly damaging |
Het |
| Lzic |
T |
C |
4: 149,577,753 (GRCm39) |
|
probably null |
Het |
| Meak7 |
T |
C |
8: 120,500,007 (GRCm39) |
|
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,914,279 (GRCm39) |
N316K |
probably benign |
Het |
| Ndufc2 |
T |
A |
7: 97,049,397 (GRCm39) |
M1K |
probably null |
Het |
| Net1 |
A |
G |
13: 3,943,391 (GRCm39) |
|
probably benign |
Het |
| Or13g1 |
G |
A |
7: 85,956,259 (GRCm39) |
L21F |
probably damaging |
Het |
| Pde1c |
A |
G |
6: 56,150,659 (GRCm39) |
Y287H |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,160,665 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
T |
A |
2: 60,254,668 (GRCm39) |
E1300V |
probably damaging |
Het |
| Polr3g |
T |
C |
13: 81,842,796 (GRCm39) |
Y73C |
probably damaging |
Het |
| Ryr1 |
T |
A |
7: 28,723,654 (GRCm39) |
E4137V |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,920,643 (GRCm39) |
D1425G |
possibly damaging |
Het |
| Slc25a12 |
A |
G |
2: 71,174,376 (GRCm39) |
Y23H |
possibly damaging |
Het |
| Spef2 |
C |
A |
15: 9,663,181 (GRCm39) |
G867W |
probably damaging |
Het |
| Strn3 |
A |
T |
12: 51,656,933 (GRCm39) |
Y698N |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 58,934,485 (GRCm39) |
F533I |
probably damaging |
Het |
|
| Other mutations in Gtf2h4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03412:Gtf2h4
|
APN |
17 |
35,979,375 (GRCm39) |
missense |
probably damaging |
0.98 |
|
miramont
|
UTSW |
17 |
32,564,352 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0112:Gtf2h4
|
UTSW |
17 |
35,981,340 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0554:Gtf2h4
|
UTSW |
17 |
35,979,531 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0928:Gtf2h4
|
UTSW |
17 |
35,981,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Gtf2h4
|
UTSW |
17 |
35,981,090 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1918:Gtf2h4
|
UTSW |
17 |
35,981,090 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2264:Gtf2h4
|
UTSW |
17 |
35,979,556 (GRCm39) |
unclassified |
probably benign |
|
|
R2287:Gtf2h4
|
UTSW |
17 |
35,982,117 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2357:Gtf2h4
|
UTSW |
17 |
35,978,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2519:Gtf2h4
|
UTSW |
17 |
35,981,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4021:Gtf2h4
|
UTSW |
17 |
35,981,556 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4881:Gtf2h4
|
UTSW |
17 |
35,981,125 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5747:Gtf2h4
|
UTSW |
17 |
35,981,273 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5889:Gtf2h4
|
UTSW |
17 |
35,981,792 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6356:Gtf2h4
|
UTSW |
17 |
35,980,647 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7323:Gtf2h4
|
UTSW |
17 |
35,980,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7426:Gtf2h4
|
UTSW |
17 |
35,980,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation