Incidental Mutation 'R4113:Gtf3c4'
ID |
314491 |
Institutional Source |
Beutler Lab
|
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 # |
R4113 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
28712311-28730372 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 28717567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 771
(T771I)
|
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: T771I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000042265 Gene: ENSMUSG00000035666 AA Change: T771I
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 |
probably damaging
Transcript: ENSMUST00000171404
AA Change: T630I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000132171 Gene: ENSMUSG00000035666 AA Change: T630I
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bace2 |
A |
G |
16: 97,237,856 (GRCm39) |
T436A |
probably benign |
Het |
BC024139 |
A |
G |
15: 76,005,827 (GRCm39) |
M458T |
probably benign |
Het |
Casp2 |
G |
A |
6: 42,244,828 (GRCm39) |
A76T |
probably damaging |
Het |
Catsper3 |
A |
G |
13: 55,934,183 (GRCm39) |
K35E |
probably damaging |
Het |
Ccdc88c |
A |
G |
12: 100,911,332 (GRCm39) |
L34P |
probably damaging |
Het |
Dcaf13 |
T |
A |
15: 38,993,615 (GRCm39) |
I236N |
probably damaging |
Het |
Dip2c |
G |
T |
13: 9,687,137 (GRCm39) |
G1254C |
probably damaging |
Het |
Dnah12 |
T |
C |
14: 26,414,722 (GRCm39) |
L41P |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 118,003,420 (GRCm39) |
K514R |
possibly damaging |
Het |
Dnajb12 |
T |
A |
10: 59,730,136 (GRCm39) |
S270R |
possibly damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Eya4 |
G |
T |
10: 23,031,849 (GRCm39) |
S235Y |
probably damaging |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Gdf3 |
A |
G |
6: 122,584,016 (GRCm39) |
I117T |
probably damaging |
Het |
Gm5611 |
T |
A |
9: 16,941,989 (GRCm39) |
|
noncoding transcript |
Het |
Hrh3 |
C |
A |
2: 179,744,643 (GRCm39) |
R99L |
possibly damaging |
Het |
Hyls1 |
T |
A |
9: 35,472,714 (GRCm39) |
Y234F |
probably damaging |
Het |
Irak1bp1 |
T |
C |
9: 82,728,728 (GRCm39) |
S220P |
probably benign |
Het |
Lama1 |
G |
A |
17: 68,071,698 (GRCm39) |
V862I |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Or14a258 |
G |
A |
7: 86,035,733 (GRCm39) |
T45M |
possibly damaging |
Het |
Or4b12 |
A |
T |
2: 90,096,684 (GRCm39) |
L30H |
probably damaging |
Het |
Pcdh8 |
T |
C |
14: 80,004,953 (GRCm39) |
D927G |
probably damaging |
Het |
Prelid3a |
T |
C |
18: 67,605,967 (GRCm39) |
Y25H |
probably damaging |
Het |
Ptprm |
T |
C |
17: 67,032,808 (GRCm39) |
D1015G |
probably damaging |
Het |
Rhox3f |
G |
T |
X: 36,763,672 (GRCm39) |
E140* |
probably null |
Het |
Riox2 |
C |
T |
16: 59,312,257 (GRCm39) |
L465F |
probably benign |
Het |
Sec31b |
G |
T |
19: 44,512,968 (GRCm39) |
T507N |
possibly damaging |
Het |
Stab1 |
C |
T |
14: 30,890,436 (GRCm39) |
R5Q |
probably damaging |
Het |
Stmn3 |
T |
C |
2: 180,949,089 (GRCm39) |
K135E |
possibly damaging |
Het |
Synj2 |
G |
A |
17: 6,058,240 (GRCm39) |
G243S |
probably benign |
Het |
Tasor |
C |
T |
14: 27,181,918 (GRCm39) |
R483* |
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tshz2 |
C |
A |
2: 169,727,450 (GRCm39) |
P213Q |
probably benign |
Het |
Tssk4 |
A |
G |
14: 55,887,830 (GRCm39) |
T9A |
probably benign |
Het |
Ube4a |
T |
A |
9: 44,860,247 (GRCm39) |
I272F |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,025,629 (GRCm39) |
C339R |
probably damaging |
Het |
Vmn2r87 |
T |
C |
10: 130,315,691 (GRCm39) |
D125G |
probably benign |
Het |
Yap1 |
A |
T |
9: 7,938,432 (GRCm39) |
*358K |
probably null |
Het |
Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTGGTTCTGGCTTCACCC -3'
(R):5'- CCTAAGGGCTCTTAAAGATGTTTTG -3'
Sequencing Primer
(F):5'- TGGCTTCACCCTAACTGCAGAG -3'
(R):5'- GGGCTCTTAAAGATGTTTTGTATACC -3'
|
Posted On |
2015-05-14 |