Incidental Mutation 'R4404:Gtf3c4'
| ID |
326746 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf3c4
|
| Ensembl Gene |
ENSMUSG00000035666 |
| Gene Name |
general transcription factor IIIC, polypeptide 4 |
| Synonyms |
KAT12 |
| MMRRC Submission |
041133-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
R4404 (G1)
|
| Quality Score |
202 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
28712311-28730372 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28716761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 813
(D813G)
|
| 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: D813G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000042265
Gene: ENSMUSG00000035666
AA Change: D813G
| 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: D672G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132171
Gene: ENSMUSG00000035666
AA Change: D672G
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc188 |
A |
G |
16: 18,036,284 (GRCm39) |
Q153R |
probably damaging |
Het |
| Cimap3 |
G |
A |
3: 105,908,684 (GRCm39) |
P7L |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,404,866 (GRCm39) |
L1721* |
probably null |
Het |
| Fcsk |
T |
A |
8: 111,616,933 (GRCm39) |
T406S |
probably benign |
Het |
| Fer |
A |
T |
17: 64,248,284 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
T |
C |
10: 51,504,639 (GRCm39) |
I68M |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,464,489 (GRCm39) |
|
probably null |
Het |
| Hars2 |
G |
T |
18: 36,918,989 (GRCm39) |
C83F |
probably damaging |
Het |
| Htr6 |
A |
G |
4: 138,789,513 (GRCm39) |
S251P |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,236,972 (GRCm39) |
T1070A |
probably benign |
Het |
| Il22ra1 |
A |
T |
4: 135,464,742 (GRCm39) |
E149D |
possibly damaging |
Het |
| Lama3 |
G |
A |
18: 12,715,588 (GRCm39) |
M1681I |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,518,828 (GRCm39) |
G1878D |
probably damaging |
Het |
| Mcc |
G |
A |
18: 44,892,365 (GRCm39) |
T83M |
probably benign |
Het |
| Nol11 |
A |
T |
11: 107,064,551 (GRCm39) |
C468S |
probably damaging |
Het |
| Nomo1 |
A |
G |
7: 45,706,092 (GRCm39) |
N482S |
probably benign |
Het |
| Npy5r |
C |
T |
8: 67,134,644 (GRCm39) |
V50I |
probably benign |
Het |
| Or8g21 |
T |
C |
9: 38,905,865 (GRCm39) |
I289V |
possibly damaging |
Het |
| Pam |
T |
C |
1: 97,782,446 (GRCm39) |
|
probably benign |
Het |
| Pank4 |
C |
T |
4: 155,064,613 (GRCm39) |
T724I |
probably benign |
Het |
| Pramel34 |
T |
A |
5: 93,785,572 (GRCm39) |
H236L |
possibly damaging |
Het |
| Sertm1 |
C |
T |
3: 54,806,746 (GRCm39) |
C93Y |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,833,651 (GRCm39) |
T444A |
probably damaging |
Het |
| Trpm7 |
C |
A |
2: 126,675,635 (GRCm39) |
L489F |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Usp25 |
A |
C |
16: 76,912,341 (GRCm39) |
K1020T |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,877,511 (GRCm39) |
T511A |
probably benign |
Het |
| Zdhhc15 |
G |
A |
X: 103,604,294 (GRCm39) |
R322* |
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 |
|
|
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 |
|
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'- ACAAGTGGTCCTCATTGGTG -3'
(R):5'- TGTTAGCAGCATGTTAGCATTCTG -3'
Sequencing Primer
(F):5'- GTTCCCCTTTAAATGACTCAGAC -3'
(R):5'- AGCAGCATGTTAGCATTCTGTTTCTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation