Incidental Mutation 'R0928:Gtf2h4'
ID |
80695 |
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 # |
R0928 (G1)
|
Quality Score |
223 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
35978624-35984607 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35981777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 152
(Y152C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124683
(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: Y152C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000001565 Gene: ENSMUSG00000001524 AA Change: Y152C
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 damaging
Transcript: ENSMUST00000160039
AA Change: Y152C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124683 Gene: ENSMUSG00000001524 AA Change: Y152C
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: Y152C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124335 Gene: ENSMUSG00000001524 AA Change: Y152C
Domain | Start | End | E-Value | Type |
Pfam:Tfb2
|
22 |
375 |
1.9e-137 |
PFAM |
PDB:3DOM|C
|
383 |
459 |
7e-13 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160752
AA Change: M151V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000124458 Gene: ENSMUSG00000001524 AA Change: M151V
Domain | Start | End | E-Value | Type |
Pfam:Tfb2
|
22 |
160 |
6.4e-32 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162927
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162604
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164978
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165787
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171536
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162894
|
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 |
- 1x: 99.2%
- 3x: 98.1%
- 10x: 93.0%
- 20x: 75.6%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
A |
1: 71,388,333 (GRCm39) |
D179V |
probably benign |
Het |
Abcc1 |
T |
C |
16: 14,207,849 (GRCm39) |
|
probably null |
Het |
Adad1 |
G |
A |
3: 37,130,889 (GRCm39) |
|
probably null |
Het |
Apobec4 |
T |
C |
1: 152,632,028 (GRCm39) |
Y19H |
probably damaging |
Het |
Bco2 |
T |
A |
9: 50,457,231 (GRCm39) |
T104S |
probably damaging |
Het |
Bnc1 |
A |
G |
7: 81,623,250 (GRCm39) |
V659A |
probably benign |
Het |
Ccdc168 |
C |
A |
1: 44,096,388 (GRCm39) |
S1570I |
possibly damaging |
Het |
Ccs |
T |
C |
19: 4,875,988 (GRCm39) |
E184G |
probably damaging |
Het |
Cfap70 |
T |
G |
14: 20,493,987 (GRCm39) |
K97N |
probably damaging |
Het |
Cracdl |
T |
C |
1: 37,663,663 (GRCm39) |
D745G |
possibly damaging |
Het |
Daam2 |
T |
C |
17: 49,795,255 (GRCm39) |
I313V |
probably benign |
Het |
Dach1 |
T |
C |
14: 98,153,268 (GRCm39) |
S467G |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 118,009,297 (GRCm39) |
S2122P |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,629,274 (GRCm39) |
D1427V |
probably damaging |
Het |
Dnai1 |
T |
C |
4: 41,602,566 (GRCm39) |
F97L |
possibly damaging |
Het |
Dsc1 |
A |
T |
18: 20,243,306 (GRCm39) |
|
probably null |
Het |
En2 |
A |
T |
5: 28,375,329 (GRCm39) |
K291* |
probably null |
Het |
Eps15 |
T |
C |
4: 109,170,160 (GRCm39) |
V154A |
possibly damaging |
Het |
Etnk1 |
A |
G |
6: 143,130,429 (GRCm39) |
I183V |
probably benign |
Het |
Fcrlb |
A |
T |
1: 170,735,509 (GRCm39) |
V255D |
possibly damaging |
Het |
Fry |
A |
T |
5: 150,360,549 (GRCm39) |
E52V |
probably damaging |
Het |
Garre1 |
A |
T |
7: 33,947,671 (GRCm39) |
|
probably null |
Het |
Gm57858 |
A |
C |
3: 36,079,515 (GRCm39) |
N258K |
possibly damaging |
Het |
Hao1 |
C |
A |
2: 134,347,536 (GRCm39) |
L256F |
possibly damaging |
Het |
Helz |
T |
A |
11: 107,517,519 (GRCm39) |
I685K |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Izumo2 |
A |
T |
7: 44,364,847 (GRCm39) |
I171F |
possibly damaging |
Het |
Krt87 |
C |
A |
15: 101,389,161 (GRCm39) |
C57F |
probably benign |
Het |
Mapkbp1 |
A |
G |
2: 119,845,849 (GRCm39) |
H400R |
probably benign |
Het |
Megf6 |
T |
A |
4: 154,261,504 (GRCm39) |
V43E |
probably damaging |
Het |
Mmut |
T |
C |
17: 41,248,174 (GRCm39) |
I67T |
probably benign |
Het |
Ninl |
A |
T |
2: 150,805,395 (GRCm39) |
V396E |
probably damaging |
Het |
Nvl |
A |
T |
1: 180,921,467 (GRCm39) |
V844E |
probably benign |
Het |
Or2b6 |
C |
T |
13: 21,823,126 (GRCm39) |
C189Y |
probably damaging |
Het |
P2rx3 |
A |
T |
2: 84,865,642 (GRCm39) |
M1K |
probably null |
Het |
Pabpn1l |
T |
C |
8: 123,349,358 (GRCm39) |
T20A |
probably benign |
Het |
Ppp3r2 |
C |
A |
4: 49,681,439 (GRCm39) |
|
probably null |
Het |
Prmt6 |
C |
T |
3: 110,157,998 (GRCm39) |
G97D |
probably damaging |
Het |
Prmt9 |
T |
C |
8: 78,307,805 (GRCm39) |
V823A |
probably damaging |
Het |
Skic3 |
T |
G |
13: 76,261,711 (GRCm39) |
L142W |
probably damaging |
Het |
Skint11 |
C |
A |
4: 114,101,798 (GRCm39) |
D79E |
possibly damaging |
Het |
Slc17a8 |
T |
A |
10: 89,434,545 (GRCm39) |
H194L |
probably damaging |
Het |
Slco6c1 |
T |
A |
1: 97,032,573 (GRCm39) |
I293F |
possibly damaging |
Het |
Tcl1b4 |
A |
T |
12: 105,168,865 (GRCm39) |
H43L |
probably benign |
Het |
Tm9sf1 |
T |
C |
14: 55,873,914 (GRCm39) |
D528G |
probably damaging |
Het |
Tpbpb |
C |
T |
13: 61,049,989 (GRCm39) |
V47I |
probably benign |
Het |
Ttn |
G |
T |
2: 76,737,876 (GRCm39) |
|
probably benign |
Het |
Usp28 |
T |
G |
9: 48,942,191 (GRCm39) |
S341A |
possibly damaging |
Het |
Vwa5a |
T |
C |
9: 38,639,303 (GRCm39) |
Y345H |
probably damaging |
Het |
Wdr11 |
C |
A |
7: 129,208,377 (GRCm39) |
D377E |
probably damaging |
Het |
Zer1 |
A |
G |
2: 29,991,775 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATGAAGTGCAAGACCACCTAGAG -3'
(R):5'- AGGCAAGGGGAACTGCTTATTACAC -3'
Sequencing Primer
(F):5'- CCACCTAGAGACGAAAAGGGTC -3'
(R):5'- CCTTGGAATGCTCCTTCAAGAATAC -3'
|
Posted On |
2013-11-07 |