Incidental Mutation 'IGL01778:Gtf3c4'
| ID |
153760 |
| 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 # |
IGL01778
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
28712311-28730372 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28725100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 211
(R211C)
|
| 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: R211C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000042265
Gene: ENSMUSG00000035666
AA Change: R211C
| 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: R70C
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132171
Gene: ENSMUSG00000035666
AA Change: R70C
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt2 |
T |
C |
4: 154,751,162 (GRCm39) |
K325E |
probably benign |
Het |
| Arc |
C |
T |
15: 74,544,204 (GRCm39) |
M6I |
probably benign |
Het |
| Atp7b |
A |
T |
8: 22,484,844 (GRCm39) |
D1404E |
probably benign |
Het |
| Cdk5rap1 |
T |
A |
2: 154,207,956 (GRCm39) |
N156I |
probably damaging |
Het |
| Ctsa |
T |
C |
2: 164,676,230 (GRCm39) |
|
probably benign |
Het |
| Depdc1b |
T |
G |
13: 108,498,861 (GRCm39) |
N181K |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,062,489 (GRCm39) |
V1994A |
probably damaging |
Het |
| Epyc |
T |
A |
10: 97,517,099 (GRCm39) |
C312* |
probably null |
Het |
| Erv3 |
T |
A |
2: 131,697,877 (GRCm39) |
R161* |
probably null |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gfra3 |
T |
C |
18: 34,824,644 (GRCm39) |
T280A |
possibly damaging |
Het |
| Gldn |
A |
T |
9: 54,241,776 (GRCm39) |
|
probably null |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Hsh2d |
A |
G |
8: 72,947,351 (GRCm39) |
D16G |
probably damaging |
Het |
| Klk15 |
T |
A |
7: 43,588,262 (GRCm39) |
M190K |
probably damaging |
Het |
| Klri1 |
A |
G |
6: 129,694,010 (GRCm39) |
S26P |
possibly damaging |
Het |
| Krt78 |
T |
A |
15: 101,859,402 (GRCm39) |
D265V |
probably damaging |
Het |
| Lgr5 |
A |
C |
10: 115,298,607 (GRCm39) |
I355S |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,685,367 (GRCm39) |
V595D |
probably damaging |
Het |
| Map2k6 |
A |
C |
11: 110,403,695 (GRCm39) |
|
probably benign |
Het |
| Mdm4 |
A |
G |
1: 132,922,285 (GRCm39) |
S286P |
probably benign |
Het |
| Ncoa4-ps |
T |
C |
12: 119,226,231 (GRCm39) |
|
noncoding transcript |
Het |
| Or2ak7 |
A |
G |
11: 58,575,095 (GRCm39) |
Y132C |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,090,448 (GRCm39) |
M114K |
probably damaging |
Het |
| Rdh13 |
C |
T |
7: 4,433,388 (GRCm39) |
|
probably null |
Het |
| Reg3g |
T |
A |
6: 78,443,816 (GRCm39) |
I131F |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc8a2 |
T |
A |
7: 15,892,818 (GRCm39) |
F827I |
probably damaging |
Het |
| Slfn9 |
A |
T |
11: 82,878,200 (GRCm39) |
C310S |
probably damaging |
Het |
| Sypl1 |
A |
G |
12: 33,025,641 (GRCm39) |
Y235C |
probably damaging |
Het |
| Trav7-4 |
A |
T |
14: 53,699,098 (GRCm39) |
T82S |
possibly damaging |
Het |
| Trim28 |
T |
A |
7: 12,764,629 (GRCm39) |
V782D |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,575,242 (GRCm39) |
T25217M |
probably damaging |
Het |
| Usp6nl |
A |
G |
2: 6,432,381 (GRCm39) |
T260A |
possibly damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,366,009 (GRCm39) |
N308K |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,207,275 (GRCm39) |
E986G |
probably benign |
Het |
| Zfp770 |
T |
C |
2: 114,026,719 (GRCm39) |
D450G |
probably damaging |
Het |
| Zw10 |
T |
G |
9: 48,980,915 (GRCm39) |
S438R |
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 |
|
IGL01802:Gtf3c4
|
APN |
2 |
28,724,092 (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 |
Incidental Mutation