Incidental Mutation 'R6356:Gtf2h4'
| ID |
513039 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6356 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35978624-35984607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35980647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 279
(S279P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124335
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001565]
[ENSMUST00000043674]
[ENSMUST00000159852]
[ENSMUST00000160039]
[ENSMUST00000160734]
[ENSMUST00000165144]
[ENSMUST00000160752]
[ENSMUST00000162266]
|
| AlphaFold |
O70422 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001565
AA Change: S279P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000001565
Gene: ENSMUSG00000001524
AA Change: S279P
| 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: S279P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124335
Gene: ENSMUSG00000001524
AA Change: S279P
| 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: ENSMUST00000162927
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171536
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165144
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165787
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000162604
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000162894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164978
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 91.9%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,161,292 (GRCm39) |
S152T |
probably benign |
Het |
| Aass |
A |
G |
6: 23,093,901 (GRCm39) |
V140A |
probably damaging |
Het |
| Add1 |
A |
G |
5: 34,776,740 (GRCm39) |
N32S |
probably null |
Het |
| Agap2 |
T |
C |
10: 126,918,865 (GRCm39) |
S414P |
unknown |
Het |
| Arhgef38 |
A |
G |
3: 132,846,638 (GRCm39) |
F376L |
probably benign |
Het |
| Cd22 |
A |
T |
7: 30,577,127 (GRCm39) |
I60N |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,274,626 (GRCm39) |
D488V |
probably damaging |
Het |
| Cfap251 |
G |
A |
5: 123,392,729 (GRCm39) |
|
probably benign |
Het |
| Cox16 |
T |
G |
12: 81,519,115 (GRCm39) |
D148A |
probably damaging |
Het |
| Dclre1b |
G |
A |
3: 103,715,471 (GRCm39) |
T9I |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,743,686 (GRCm39) |
V1176A |
probably benign |
Het |
| Echdc1 |
A |
C |
10: 29,220,522 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
G |
11: 104,784,533 (GRCm39) |
K2772E |
probably benign |
Het |
| Efnb3 |
G |
A |
11: 69,446,966 (GRCm39) |
A248V |
probably benign |
Het |
| Glud1 |
A |
G |
14: 34,033,173 (GRCm39) |
R107G |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,791,402 (GRCm39) |
C2579R |
probably damaging |
Het |
| Igkv15-103 |
A |
G |
6: 68,414,441 (GRCm39) |
|
probably benign |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Krtap5-2 |
T |
C |
7: 141,729,119 (GRCm39) |
|
probably benign |
Het |
| Lcn11 |
G |
T |
2: 25,668,132 (GRCm39) |
G97* |
probably null |
Het |
| Lrrtm3 |
G |
A |
10: 63,765,943 (GRCm39) |
T548M |
probably benign |
Het |
| Map3k2 |
A |
T |
18: 32,345,023 (GRCm39) |
T283S |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,872,493 (GRCm39) |
K2292E |
possibly damaging |
Het |
| Med23 |
G |
T |
10: 24,764,311 (GRCm39) |
C98F |
probably damaging |
Het |
| Morc1 |
T |
A |
16: 48,257,652 (GRCm39) |
F26Y |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,366,416 (GRCm39) |
M2160K |
probably benign |
Het |
| Myocd |
T |
C |
11: 65,109,396 (GRCm39) |
|
probably null |
Het |
| Nup160 |
T |
A |
2: 90,542,279 (GRCm39) |
|
probably null |
Het |
| Obi1 |
A |
G |
14: 104,716,313 (GRCm39) |
S687P |
probably damaging |
Het |
| Olr1 |
A |
T |
6: 129,470,522 (GRCm39) |
L215Q |
probably benign |
Het |
| Or5ak23 |
T |
A |
2: 85,245,031 (GRCm39) |
Q64L |
probably damaging |
Het |
| Or6c216 |
T |
A |
10: 129,678,477 (GRCm39) |
S145C |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,947,440 (GRCm39) |
K1414R |
possibly damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,280,976 (GRCm39) |
V96A |
probably benign |
Het |
| Prim1 |
T |
A |
10: 127,859,704 (GRCm39) |
Y299N |
probably damaging |
Het |
| Rsf1 |
T |
C |
7: 97,311,141 (GRCm39) |
S624P |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,101,018 (GRCm39) |
I687N |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,971,830 (GRCm39) |
F801L |
probably damaging |
Het |
| St6gal2 |
T |
C |
17: 55,789,014 (GRCm39) |
I16T |
probably damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Trim8 |
T |
G |
19: 46,503,797 (GRCm39) |
S450A |
probably benign |
Het |
| Trp53bp2 |
A |
G |
1: 182,276,562 (GRCm39) |
T848A |
probably benign |
Het |
| Vmn2r24 |
A |
G |
6: 123,783,368 (GRCm39) |
S523G |
possibly damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,902,926 (GRCm39) |
M501L |
probably benign |
Het |
| Vmn2r68 |
C |
T |
7: 84,883,048 (GRCm39) |
V235M |
possibly damaging |
Het |
| Zfhx3 |
G |
A |
8: 109,673,251 (GRCm39) |
V1434M |
probably damaging |
Het |
| Zmym5 |
A |
T |
14: 57,031,622 (GRCm39) |
N495K |
possibly damaging |
Het |
|
| Other mutations in Gtf2h4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00886:Gtf2h4
|
APN |
17 |
35,980,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGAAACACGGTCCTAACTG -3'
(R):5'- TATGTACACCCAGCCACCTG -3'
Sequencing Primer
(F):5'- TTCCTGTGTCCTTCCCCTCTG -3'
(R):5'- ACCTGGCCTCTAGGAGAGTC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation