Incidental Mutation 'R4881:Gtf2h4'
ID |
375308 |
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 # |
R4881 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
35978624-35984607 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 35981125 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 234
(I234N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001565]
[ENSMUST00000043674]
[ENSMUST00000159852]
[ENSMUST00000160039]
[ENSMUST00000160734]
[ENSMUST00000165144]
[ENSMUST00000162266]
[ENSMUST00000160752]
|
AlphaFold |
O70422 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000001565
AA Change: I234N
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000001565 Gene: ENSMUSG00000001524 AA Change: I234N
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: I234N
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000124335 Gene: ENSMUSG00000001524 AA Change: I234N
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: ENSMUST00000162604
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162894
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171536
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165787
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000165144
|
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: ENSMUST00000160752
|
SMART Domains |
Protein: ENSMUSP00000124458 Gene: ENSMUSG00000001524
Domain | Start | End | E-Value | Type |
Pfam:Tfb2
|
22 |
160 |
6.4e-32 |
PFAM |
|
Meta Mutation Damage Score |
0.8467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (57/57) |
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 |
Abca14 |
T |
C |
7: 119,877,472 (GRCm39) |
L1040P |
possibly damaging |
Het |
Acot11 |
C |
A |
4: 106,612,502 (GRCm39) |
|
probably null |
Het |
Aldoart2 |
C |
A |
12: 55,612,899 (GRCm39) |
Q275K |
probably damaging |
Het |
Auts2 |
T |
C |
5: 131,501,288 (GRCm39) |
T42A |
probably damaging |
Het |
Bora |
C |
T |
14: 99,299,003 (GRCm39) |
L187F |
probably damaging |
Het |
Cbln4 |
A |
G |
2: 171,884,059 (GRCm39) |
S54P |
possibly damaging |
Het |
Celsr3 |
T |
A |
9: 108,721,140 (GRCm39) |
L2661Q |
probably damaging |
Het |
Cfap65 |
T |
C |
1: 74,946,772 (GRCm39) |
T1313A |
probably damaging |
Het |
Dbndd2 |
C |
A |
2: 164,332,225 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
A |
G |
9: 64,746,126 (GRCm39) |
D4G |
possibly damaging |
Het |
Dmxl1 |
T |
A |
18: 50,090,348 (GRCm39) |
|
probably benign |
Het |
Dnah7b |
T |
C |
1: 46,240,478 (GRCm39) |
C1532R |
probably damaging |
Het |
Erbb3 |
A |
T |
10: 128,412,816 (GRCm39) |
H591Q |
probably benign |
Het |
Exosc4 |
T |
C |
15: 76,213,770 (GRCm39) |
L198P |
probably damaging |
Het |
F2r |
A |
T |
13: 95,754,837 (GRCm39) |
C16S |
possibly damaging |
Het |
Ift27 |
A |
T |
15: 78,049,448 (GRCm39) |
V84D |
probably damaging |
Het |
Ints10 |
C |
T |
8: 69,263,256 (GRCm39) |
A389V |
probably benign |
Het |
Irs1 |
TGGGGTGGACATCGAACTGAAGGAG |
TG |
1: 82,265,453 (GRCm39) |
913 |
probably null |
Het |
Klrc2 |
T |
A |
6: 129,637,471 (GRCm39) |
T17S |
possibly damaging |
Het |
Matr3 |
T |
A |
18: 35,705,428 (GRCm39) |
S118T |
probably damaging |
Het |
Mfsd6l |
C |
T |
11: 68,448,748 (GRCm39) |
A533V |
probably benign |
Het |
Msh3 |
A |
G |
13: 92,402,549 (GRCm39) |
|
probably benign |
Het |
Myo5c |
A |
G |
9: 75,191,434 (GRCm39) |
M1103V |
probably benign |
Het |
Niban2 |
C |
A |
2: 32,812,590 (GRCm39) |
Y446* |
probably null |
Het |
Or2y1e |
T |
A |
11: 49,219,124 (GRCm39) |
D295E |
probably benign |
Het |
Or5e1 |
T |
C |
7: 108,354,612 (GRCm39) |
L183P |
probably damaging |
Het |
Or6z3 |
A |
T |
7: 6,463,753 (GRCm39) |
M82L |
probably benign |
Het |
Osbpl3 |
A |
T |
6: 50,329,764 (GRCm39) |
D88E |
possibly damaging |
Het |
Pou1f1 |
C |
T |
16: 65,328,728 (GRCm39) |
T149I |
probably damaging |
Het |
Ppp1r12b |
G |
T |
1: 134,883,471 (GRCm39) |
A17E |
probably benign |
Het |
Pstpip2 |
T |
A |
18: 77,962,032 (GRCm39) |
Y267* |
probably null |
Het |
Rcor1 |
A |
G |
12: 111,063,986 (GRCm39) |
D95G |
probably damaging |
Het |
Rttn |
T |
C |
18: 89,119,809 (GRCm39) |
L1748P |
probably damaging |
Het |
Slco2a1 |
A |
G |
9: 102,963,031 (GRCm39) |
K629E |
possibly damaging |
Het |
Smarcc1 |
A |
G |
9: 109,964,696 (GRCm39) |
|
probably benign |
Het |
Son |
A |
G |
16: 91,472,397 (GRCm39) |
K360E |
probably benign |
Het |
Stab1 |
A |
T |
14: 30,865,629 (GRCm39) |
M1753K |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,026,593 (GRCm39) |
I3474V |
probably damaging |
Het |
Tmem63c |
A |
T |
12: 87,133,192 (GRCm39) |
T736S |
possibly damaging |
Het |
Tmpo |
G |
A |
10: 90,998,503 (GRCm39) |
P428L |
possibly damaging |
Het |
Tmprss11a |
G |
T |
5: 86,570,432 (GRCm39) |
Q176K |
probably damaging |
Het |
Trappc4 |
A |
G |
9: 44,315,322 (GRCm39) |
S219P |
probably damaging |
Het |
Vmn2r117 |
G |
T |
17: 23,696,859 (GRCm39) |
P183T |
probably damaging |
Het |
Vmn2r54 |
C |
T |
7: 12,363,598 (GRCm39) |
V432I |
probably benign |
Het |
Vtcn1 |
G |
A |
3: 100,799,909 (GRCm39) |
G257R |
probably benign |
Het |
Yipf1 |
T |
A |
4: 107,202,288 (GRCm39) |
M217K |
possibly damaging |
Het |
Zfc3h1 |
T |
C |
10: 115,236,647 (GRCm39) |
S374P |
probably benign |
Het |
Zfp407 |
T |
C |
18: 84,577,828 (GRCm39) |
H1095R |
probably benign |
Het |
Zfp661 |
A |
T |
2: 127,420,564 (GRCm39) |
H78Q |
probably benign |
Het |
Zfp957 |
T |
C |
14: 79,450,849 (GRCm39) |
T317A |
unknown |
Het |
Zfyve9 |
T |
A |
4: 108,584,688 (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 |
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 |
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'- TTGCAGGAAGTTCAACAAAGAGTC -3'
(R):5'- AGCTCTGGTACTTCATGCTGC -3'
Sequencing Primer
(F):5'- TCCACAGAGTAGTCCTGGG -3'
(R):5'- CAGTATCTGCAGACAGCCCAGG -3'
|
Posted On |
2016-03-17 |