Incidental Mutation 'R5751:Gtf3c4'
ID |
445998 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gtf3c4
|
Ensembl Gene |
ENSMUSG00000035666 |
Gene Name |
general transcription factor IIIC, polypeptide 4 |
Synonyms |
KAT12 |
MMRRC Submission |
043201-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R5751 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
28712311-28730372 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 28717511 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 790
(A790T)
|
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: A790T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000042265 Gene: ENSMUSG00000035666 AA Change: A790T
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: A649T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132171 Gene: ENSMUSG00000035666 AA Change: A649T
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: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
G |
5: 114,368,893 (GRCm39) |
T1704A |
possibly damaging |
Het |
Adam6a |
T |
A |
12: 113,508,447 (GRCm39) |
D273E |
possibly damaging |
Het |
Adgrv1 |
T |
A |
13: 81,670,355 (GRCm39) |
L1610F |
probably damaging |
Het |
Ago2 |
C |
T |
15: 73,000,172 (GRCm39) |
|
probably null |
Het |
Apob |
T |
A |
12: 8,062,619 (GRCm39) |
Y87* |
probably null |
Het |
Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
Atp7b |
A |
G |
8: 22,508,144 (GRCm39) |
V599A |
probably damaging |
Het |
Dnah1 |
T |
A |
14: 31,032,863 (GRCm39) |
I391F |
probably benign |
Het |
Emc2 |
A |
G |
15: 43,360,453 (GRCm39) |
|
probably null |
Het |
Gbp9 |
G |
T |
5: 105,229,124 (GRCm39) |
Q508K |
probably benign |
Het |
Grpel1 |
C |
T |
5: 36,626,811 (GRCm39) |
T31M |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,449,305 (GRCm39) |
C115R |
probably damaging |
Het |
Ik |
G |
A |
18: 36,886,566 (GRCm39) |
R346H |
probably benign |
Het |
Ldc1 |
A |
C |
4: 130,114,234 (GRCm39) |
V61G |
probably benign |
Het |
Lhx3 |
A |
G |
2: 26,091,173 (GRCm39) |
S379P |
probably benign |
Het |
Mocs1 |
A |
G |
17: 49,756,766 (GRCm39) |
|
probably null |
Het |
Mycbp2 |
C |
A |
14: 103,385,986 (GRCm39) |
V3457F |
probably damaging |
Het |
Or14j7 |
A |
T |
17: 38,234,861 (GRCm39) |
I135L |
probably benign |
Het |
Or4a2 |
A |
T |
2: 89,248,031 (GRCm39) |
I242N |
probably damaging |
Het |
Or5an6 |
G |
A |
19: 12,371,780 (GRCm39) |
R51K |
probably benign |
Het |
Orc5 |
C |
T |
5: 22,704,969 (GRCm39) |
|
probably null |
Het |
Phf20 |
T |
C |
2: 156,109,261 (GRCm39) |
S203P |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,817,204 (GRCm39) |
S1815G |
possibly damaging |
Het |
Pnpla7 |
T |
C |
2: 24,871,790 (GRCm39) |
V11A |
probably damaging |
Het |
Ranbp2 |
T |
C |
10: 58,300,086 (GRCm39) |
|
probably null |
Het |
Ranbp3l |
A |
G |
15: 9,063,169 (GRCm39) |
D326G |
probably damaging |
Het |
Rsph4a |
C |
T |
10: 33,781,789 (GRCm39) |
A213V |
probably damaging |
Het |
Sema3b |
A |
G |
9: 107,476,913 (GRCm39) |
S570P |
probably benign |
Het |
Spata31d1b |
T |
A |
13: 59,866,787 (GRCm39) |
C1312S |
probably benign |
Het |
Sphkap |
G |
T |
1: 83,253,618 (GRCm39) |
T1377K |
probably benign |
Het |
Stk32a |
A |
T |
18: 43,438,085 (GRCm39) |
R195W |
possibly damaging |
Het |
Tacr2 |
T |
C |
10: 62,088,769 (GRCm39) |
I58T |
probably damaging |
Het |
Tmem200c |
A |
T |
17: 69,147,547 (GRCm39) |
K43N |
probably damaging |
Het |
Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
Uckl1 |
A |
G |
2: 181,216,245 (GRCm39) |
S167P |
possibly damaging |
Het |
Vmn2r90 |
A |
G |
17: 17,954,128 (GRCm39) |
Y764C |
probably damaging |
Het |
Zan |
C |
T |
5: 137,408,423 (GRCm39) |
|
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 |
R4404:Gtf3c4
|
UTSW |
2 |
28,716,761 (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'- TTGAGTCAGCCCTAACACTGG -3'
(R):5'- CAGAGAGGTTCTGTGTCTCTTCAG -3'
Sequencing Primer
(F):5'- GTCAGCCCTAACACTGGACTGAAG -3'
(R):5'- CTCTTCAGAGAGTGCTGGTATAG -3'
|
Posted On |
2016-11-21 |