Incidental Mutation 'R3076:Gtf3c4'
| ID |
265198 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf3c4
|
| Ensembl Gene |
ENSMUSG00000035666 |
| Gene Name |
general transcription factor IIIC, polypeptide 4 |
| Synonyms |
KAT12 |
| MMRRC Submission |
040566-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R3076 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
28712311-28730372 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28725165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 189
(V189E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042265
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037117]
[ENSMUST00000171404]
|
| AlphaFold |
Q8BMQ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037117
AA Change: V189E
PolyPhen 2
Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000042265
Gene: ENSMUSG00000035666
AA Change: V189E
| 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 benign
Transcript: ENSMUST00000171404
AA Change: V48E
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000132171
Gene: ENSMUSG00000035666
AA Change: V48E
| 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: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
A |
T |
5: 129,206,169 (GRCm39) |
I248F |
probably benign |
Het |
| Amigo2 |
C |
T |
15: 97,143,315 (GRCm39) |
R369Q |
probably damaging |
Het |
| Aopep |
A |
C |
13: 63,387,929 (GRCm39) |
D3A |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,479,278 (GRCm39) |
I1446V |
probably damaging |
Het |
| Ascc2 |
T |
A |
11: 4,622,446 (GRCm39) |
L504Q |
probably damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,679,498 (GRCm39) |
V932A |
possibly damaging |
Het |
| Cabcoco1 |
T |
G |
10: 68,361,475 (GRCm39) |
Y8S |
possibly damaging |
Het |
| Cct8 |
A |
G |
16: 87,285,765 (GRCm39) |
V231A |
possibly damaging |
Het |
| Col18a1 |
T |
C |
10: 76,924,762 (GRCm39) |
K9R |
possibly damaging |
Het |
| Dlgap3 |
A |
G |
4: 127,089,499 (GRCm39) |
Y365C |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,818,725 (GRCm39) |
|
probably null |
Het |
| Khdc3 |
C |
A |
9: 73,010,212 (GRCm39) |
F89L |
probably damaging |
Het |
| Kif14 |
T |
G |
1: 136,447,383 (GRCm39) |
I1396S |
possibly damaging |
Het |
| Magi1 |
T |
C |
6: 93,734,668 (GRCm39) |
Q393R |
possibly damaging |
Het |
| Med28 |
A |
G |
5: 45,679,820 (GRCm39) |
T68A |
possibly damaging |
Het |
| Meis1 |
A |
T |
11: 18,961,254 (GRCm39) |
N206K |
probably benign |
Het |
| Mnt |
G |
C |
11: 74,733,936 (GRCm39) |
|
probably benign |
Het |
| Mrgpre |
C |
T |
7: 143,335,033 (GRCm39) |
A157T |
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,498,879 (GRCm39) |
V76I |
possibly damaging |
Het |
| Nbeal2 |
A |
T |
9: 110,460,768 (GRCm39) |
W1702R |
probably damaging |
Het |
| Nhsl2 |
C |
T |
X: 101,121,201 (GRCm39) |
R62W |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,640,182 (GRCm39) |
Y306N |
probably damaging |
Het |
| Nrsn1 |
T |
C |
13: 25,437,542 (GRCm39) |
T129A |
probably benign |
Het |
| Nrxn3 |
T |
G |
12: 89,227,186 (GRCm39) |
C274G |
probably damaging |
Het |
| Nyap2 |
T |
C |
1: 81,219,686 (GRCm39) |
|
probably null |
Het |
| Or1e29 |
G |
A |
11: 73,667,466 (GRCm39) |
P229L |
possibly damaging |
Het |
| Or1o11 |
T |
C |
17: 37,756,375 (GRCm39) |
|
probably benign |
Het |
| Phldb2 |
T |
C |
16: 45,645,373 (GRCm39) |
T403A |
probably benign |
Het |
| Plaa |
T |
C |
4: 94,458,042 (GRCm39) |
I643V |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,179,931 (GRCm39) |
S1450P |
probably damaging |
Het |
| Sh2d2a |
T |
C |
3: 87,759,477 (GRCm39) |
I296T |
probably benign |
Het |
| Shtn1 |
T |
C |
19: 58,983,518 (GRCm39) |
E471G |
probably damaging |
Het |
| St7 |
T |
G |
6: 17,846,237 (GRCm39) |
Y163* |
probably null |
Het |
| Svil |
T |
C |
18: 5,116,055 (GRCm39) |
S1623P |
probably damaging |
Het |
| Ugcg |
T |
G |
4: 59,213,922 (GRCm39) |
V168G |
probably damaging |
Het |
| Vmn1r223 |
G |
A |
13: 23,434,335 (GRCm39) |
A310T |
probably benign |
Het |
| Zfp647 |
A |
T |
15: 76,802,209 (GRCm39) |
M1K |
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGCTGAGTGGTACAGATAC -3'
(R):5'- TGCAAGGAAAAGTTCGCTTCC -3'
Sequencing Primer
(F):5'- GAGTGGTACAGATACTCGACCATTC -3'
(R):5'- GGAAAAGTTCGCTTCCTCTAAAGAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation