Incidental Mutation 'IGL01802:Gtf3c4'
ID |
155552 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gtf3c4
|
Ensembl Gene |
ENSMUSG00000035666 |
Gene Name |
general transcription factor IIIC, polypeptide 4 |
Synonyms |
KAT12 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
IGL01802
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
28712311-28730372 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28724092 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 547
(K547E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042265
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037117]
[ENSMUST00000171404]
|
AlphaFold |
Q8BMQ2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037117
AA Change: K547E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000042265 Gene: ENSMUSG00000035666 AA Change: K547E
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
42 |
N/A |
INTRINSIC |
Pfam:TFIIIC_delta
|
59 |
250 |
1.1e-45 |
PFAM |
low complexity region
|
609 |
621 |
N/A |
INTRINSIC |
Pfam:zf-TFIIIC
|
728 |
816 |
2.7e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124390
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156468
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171404
AA Change: K406E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132171 Gene: ENSMUSG00000035666 AA Change: K406E
Domain | Start | End | E-Value | Type |
Pfam:TFIIIC_delta
|
7 |
109 |
3.1e-17 |
PFAM |
low complexity region
|
468 |
480 |
N/A |
INTRINSIC |
Pfam:zf-TFIIIC
|
587 |
676 |
4.4e-26 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
C |
11: 9,242,438 (GRCm39) |
M1434L |
probably benign |
Het |
Acta2 |
T |
A |
19: 34,220,836 (GRCm39) |
I291F |
possibly damaging |
Het |
Arhgap10 |
A |
G |
8: 78,146,714 (GRCm39) |
I230T |
probably damaging |
Het |
Ark2c |
A |
T |
18: 77,550,610 (GRCm39) |
L106Q |
probably damaging |
Het |
Copb1 |
A |
C |
7: 113,826,011 (GRCm39) |
S658A |
probably benign |
Het |
Crtc3 |
A |
T |
7: 80,254,116 (GRCm39) |
C244* |
probably null |
Het |
Cyp4a14 |
G |
A |
4: 115,352,134 (GRCm39) |
R93* |
probably null |
Het |
Dclk2 |
A |
G |
3: 86,706,334 (GRCm39) |
F586L |
probably damaging |
Het |
Dmtn |
G |
T |
14: 70,842,259 (GRCm39) |
F358L |
probably damaging |
Het |
Enam |
A |
T |
5: 88,651,533 (GRCm39) |
H1014L |
possibly damaging |
Het |
Ercc6 |
A |
G |
14: 32,284,531 (GRCm39) |
T765A |
probably damaging |
Het |
Hdc |
G |
T |
2: 126,445,814 (GRCm39) |
A230D |
probably benign |
Het |
Hipk3 |
A |
T |
2: 104,302,198 (GRCm39) |
|
probably benign |
Het |
Kidins220 |
A |
G |
12: 25,044,999 (GRCm39) |
I264M |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 41,401,494 (GRCm39) |
V387I |
probably benign |
Het |
Mmp8 |
T |
G |
9: 7,567,441 (GRCm39) |
F434V |
probably benign |
Het |
Nr3c2 |
C |
A |
8: 77,635,224 (GRCm39) |
Y108* |
probably null |
Het |
Or4k5 |
T |
G |
14: 50,386,173 (GRCm39) |
S53R |
probably benign |
Het |
Or5b119 |
T |
C |
19: 13,456,729 (GRCm39) |
M278V |
probably benign |
Het |
Pnpt1 |
A |
T |
11: 29,104,306 (GRCm39) |
D560V |
probably damaging |
Het |
Rbbp8nl |
T |
C |
2: 179,921,488 (GRCm39) |
S299G |
probably benign |
Het |
Slc9a4 |
A |
T |
1: 40,646,958 (GRCm39) |
N484I |
probably damaging |
Het |
Sncaip |
C |
T |
18: 53,002,109 (GRCm39) |
S210F |
probably damaging |
Het |
Tiam1 |
G |
T |
16: 89,695,260 (GRCm39) |
Q66K |
possibly damaging |
Het |
Ttc39a |
C |
A |
4: 109,290,281 (GRCm39) |
Y330* |
probably null |
Het |
Ush2a |
T |
G |
1: 188,169,154 (GRCm39) |
D1098E |
probably damaging |
Het |
Vmn2r103 |
A |
G |
17: 20,019,470 (GRCm39) |
E518G |
probably benign |
Het |
|
Other mutations in Gtf3c4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01322:Gtf3c4
|
APN |
2 |
28,723,584 (GRCm39) |
missense |
probably benign |
|
IGL01419:Gtf3c4
|
APN |
2 |
28,725,081 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01574:Gtf3c4
|
APN |
2 |
28,724,448 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL01778:Gtf3c4
|
APN |
2 |
28,725,100 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02560:Gtf3c4
|
APN |
2 |
28,724,279 (GRCm39) |
nonsense |
probably null |
|
R0190:Gtf3c4
|
UTSW |
2 |
28,730,140 (GRCm39) |
missense |
probably benign |
0.19 |
R0245:Gtf3c4
|
UTSW |
2 |
28,724,976 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0440:Gtf3c4
|
UTSW |
2 |
28,730,181 (GRCm39) |
splice site |
probably null |
|
R0882:Gtf3c4
|
UTSW |
2 |
28,724,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R1757:Gtf3c4
|
UTSW |
2 |
28,720,648 (GRCm39) |
splice site |
probably benign |
|
R1809:Gtf3c4
|
UTSW |
2 |
28,723,988 (GRCm39) |
nonsense |
probably null |
|
R1893:Gtf3c4
|
UTSW |
2 |
28,724,374 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1903:Gtf3c4
|
UTSW |
2 |
28,729,968 (GRCm39) |
missense |
probably benign |
0.19 |
R2020:Gtf3c4
|
UTSW |
2 |
28,723,906 (GRCm39) |
missense |
possibly damaging |
0.81 |
R2867:Gtf3c4
|
UTSW |
2 |
28,729,916 (GRCm39) |
utr 5 prime |
probably benign |
|
R3076:Gtf3c4
|
UTSW |
2 |
28,725,165 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4113:Gtf3c4
|
UTSW |
2 |
28,717,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R4404:Gtf3c4
|
UTSW |
2 |
28,716,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R5751:Gtf3c4
|
UTSW |
2 |
28,717,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R5997:Gtf3c4
|
UTSW |
2 |
28,723,723 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8162:Gtf3c4
|
UTSW |
2 |
28,724,593 (GRCm39) |
nonsense |
probably null |
|
R9164:Gtf3c4
|
UTSW |
2 |
28,724,661 (GRCm39) |
missense |
probably benign |
0.31 |
R9170:Gtf3c4
|
UTSW |
2 |
28,730,214 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9232:Gtf3c4
|
UTSW |
2 |
28,724,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R9308:Gtf3c4
|
UTSW |
2 |
28,724,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R9415:Gtf3c4
|
UTSW |
2 |
28,723,966 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9752:Gtf3c4
|
UTSW |
2 |
28,724,126 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Gtf3c4
|
UTSW |
2 |
28,725,085 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2014-02-04 |