Incidental Mutation 'R5747:Gtf2h4'
| ID |
445845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf2h4
|
| Ensembl Gene |
ENSMUSG00000001524 |
| Gene Name |
general transcription factor II H, polypeptide 4 |
| Synonyms |
p52 |
| MMRRC Submission |
043354-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R5747 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
35978624-35984607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35981273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 220
(Y220C)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000001565
AA Change: Y220C
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000001565
Gene: ENSMUSG00000001524
AA Change: Y220C
| 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 |
possibly damaging
Transcript: ENSMUST00000160734
AA Change: Y220C
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124335
Gene: ENSMUSG00000001524
AA Change: Y220C
| 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: ENSMUST00000164978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171536
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162604
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162894
|
| 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 |
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
|
| Meta Mutation Damage Score |
0.8020 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (54/54) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
T |
1: 25,865,643 (GRCm39) |
Y67N |
probably damaging |
Het |
| Akap8l |
T |
C |
17: 32,564,352 (GRCm39) |
T12A |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,466,836 (GRCm39) |
V1620A |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,735,400 (GRCm39) |
|
probably benign |
Het |
| Ankrd34c |
C |
T |
9: 89,611,814 (GRCm39) |
V176M |
possibly damaging |
Het |
| Arhgap39 |
C |
T |
15: 76,625,735 (GRCm39) |
D190N |
possibly damaging |
Het |
| Cbl |
A |
G |
9: 44,112,416 (GRCm39) |
L93P |
probably damaging |
Het |
| Crebl2 |
C |
T |
6: 134,828,103 (GRCm39) |
L92F |
probably damaging |
Het |
| Dclre1a |
A |
G |
19: 56,529,964 (GRCm39) |
V791A |
probably damaging |
Het |
| Dzip1l |
T |
A |
9: 99,521,862 (GRCm39) |
|
probably null |
Het |
| Echs1 |
T |
C |
7: 139,691,725 (GRCm39) |
|
probably benign |
Het |
| Eif1ad16 |
C |
T |
12: 87,985,366 (GRCm39) |
C59Y |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,483,520 (GRCm39) |
I163T |
probably damaging |
Het |
| Fdft1 |
A |
G |
14: 63,384,288 (GRCm39) |
S388P |
probably damaging |
Het |
| Gbx2 |
A |
G |
1: 89,856,437 (GRCm39) |
S318P |
probably damaging |
Het |
| Gkn1 |
T |
A |
6: 87,323,319 (GRCm39) |
T165S |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Gm5093 |
T |
G |
17: 46,750,916 (GRCm39) |
E37A |
possibly damaging |
Het |
| Gm527 |
A |
T |
12: 64,967,620 (GRCm39) |
N14I |
probably damaging |
Het |
| Gnaz |
C |
T |
10: 74,827,235 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
T |
C |
10: 49,399,870 (GRCm39) |
T287A |
probably benign |
Het |
| Igkv8-28 |
T |
C |
6: 70,121,141 (GRCm39) |
E2G |
probably benign |
Het |
| Itgbl1 |
T |
A |
14: 124,209,576 (GRCm39) |
Y318* |
probably null |
Het |
| Kcnh5 |
T |
C |
12: 74,945,194 (GRCm39) |
E685G |
probably benign |
Het |
| Kctd18 |
A |
T |
1: 58,001,183 (GRCm39) |
|
probably benign |
Het |
| Ldhal6b |
A |
C |
17: 5,468,094 (GRCm39) |
V280G |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,355,703 (GRCm39) |
T182A |
probably damaging |
Het |
| Lman2l |
T |
C |
1: 36,464,038 (GRCm39) |
D272G |
possibly damaging |
Het |
| Lrrc63 |
T |
C |
14: 75,363,904 (GRCm39) |
T76A |
probably benign |
Het |
| Map3k3 |
A |
G |
11: 106,041,236 (GRCm39) |
T402A |
probably benign |
Het |
| Mdga1 |
C |
T |
17: 30,069,525 (GRCm39) |
D174N |
probably benign |
Het |
| Mob4 |
A |
G |
1: 55,187,737 (GRCm39) |
M68V |
probably damaging |
Het |
| Or1j15 |
A |
T |
2: 36,458,979 (GRCm39) |
Y123F |
probably damaging |
Het |
| Rassf8 |
A |
G |
6: 145,761,541 (GRCm39) |
E289G |
probably benign |
Het |
| Rnf17 |
T |
C |
14: 56,703,276 (GRCm39) |
|
probably null |
Het |
| Rp9 |
A |
G |
9: 22,359,960 (GRCm39) |
|
probably benign |
Het |
| Rrm2b |
T |
C |
15: 37,927,634 (GRCm39) |
Q92R |
probably benign |
Het |
| Sema6d |
C |
T |
2: 124,506,867 (GRCm39) |
P879S |
probably damaging |
Het |
| Slc27a2 |
T |
A |
2: 126,406,658 (GRCm39) |
M114K |
probably benign |
Het |
| Slc4a5 |
T |
A |
6: 83,248,011 (GRCm39) |
Y521N |
probably damaging |
Het |
| Slc6a4 |
A |
T |
11: 76,901,337 (GRCm39) |
N24I |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,984,952 (GRCm39) |
D815E |
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,848,738 (GRCm39) |
D656G |
probably damaging |
Het |
| Susd1 |
T |
A |
4: 59,424,108 (GRCm39) |
N39I |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,894,853 (GRCm39) |
T417I |
probably benign |
Het |
| Wdr31 |
C |
T |
4: 62,381,637 (GRCm39) |
V65I |
probably damaging |
Het |
| Zfp783 |
T |
C |
6: 47,925,829 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTACTGACCTTGCCAAGAGTG -3'
(R):5'- CAGGCCGGGCTTATGAAAAG -3'
Sequencing Primer
(F):5'- GTGGAGAAGCTGAGCTGG -3'
(R):5'- CTCCTTGGGTCTCATATAAAATGGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation