Incidental Mutation 'R6223:Gtf3c1'
| ID |
504146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf3c1
|
| Ensembl Gene |
ENSMUSG00000032777 |
| Gene Name |
general transcription factor III C 1 |
| Synonyms |
|
| MMRRC Submission |
044354-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6223 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
125240126-125306860 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 125275797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 543
(R543K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055506]
[ENSMUST00000205444]
[ENSMUST00000205659]
|
| AlphaFold |
Q8K284 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055506
AA Change: R543K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: R543K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:B-block_TFIIIC
|
174 |
250 |
5.1e-20 |
PFAM |
|
low complexity region
|
344 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
474 |
514 |
N/A |
INTRINSIC |
|
low complexity region
|
538 |
549 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
604 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
745 |
N/A |
INTRINSIC |
|
low complexity region
|
859 |
872 |
N/A |
INTRINSIC |
|
low complexity region
|
1158 |
1173 |
N/A |
INTRINSIC |
|
low complexity region
|
1359 |
1372 |
N/A |
INTRINSIC |
|
low complexity region
|
1423 |
1443 |
N/A |
INTRINSIC |
|
low complexity region
|
1585 |
1620 |
N/A |
INTRINSIC |
|
low complexity region
|
1895 |
1915 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205444
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205659
AA Change: R543K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205697
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit preimplantation lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
C |
2: 152,269,873 (GRCm39) |
R8S |
probably benign |
Het |
| Abca8b |
A |
G |
11: 109,868,672 (GRCm39) |
V164A |
probably benign |
Het |
| Acadm |
C |
A |
3: 153,644,186 (GRCm39) |
|
probably null |
Het |
| Ap3b2 |
G |
A |
7: 81,123,210 (GRCm39) |
R435* |
probably null |
Het |
| Art2b |
A |
G |
7: 101,229,158 (GRCm39) |
F247S |
possibly damaging |
Het |
| C1rb |
T |
A |
6: 124,551,539 (GRCm39) |
D216E |
probably benign |
Het |
| Casz1 |
C |
A |
4: 149,017,840 (GRCm39) |
D90E |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cdc25a |
C |
A |
9: 109,718,842 (GRCm39) |
P409T |
possibly damaging |
Het |
| Cidea |
A |
C |
18: 67,491,809 (GRCm39) |
K23T |
possibly damaging |
Het |
| Clspn |
T |
A |
4: 126,479,961 (GRCm39) |
D1101E |
probably damaging |
Het |
| Col10a1 |
A |
T |
10: 34,271,183 (GRCm39) |
D385V |
probably damaging |
Het |
| Crat |
C |
T |
2: 30,297,042 (GRCm39) |
V304I |
probably benign |
Het |
| Cyp2d26 |
A |
T |
15: 82,675,918 (GRCm39) |
W265R |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,138,416 (GRCm39) |
Y1247F |
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,221,078 (GRCm39) |
D11G |
possibly damaging |
Het |
| Eed |
A |
G |
7: 89,605,495 (GRCm39) |
Y365H |
probably damaging |
Het |
| Fabp5 |
T |
A |
3: 10,080,170 (GRCm39) |
F73L |
probably benign |
Het |
| Fbn1 |
C |
T |
2: 125,254,591 (GRCm39) |
C224Y |
possibly damaging |
Het |
| Ggcx |
T |
C |
6: 72,406,588 (GRCm39) |
F684L |
probably damaging |
Het |
| Glrp1 |
G |
A |
1: 88,431,164 (GRCm39) |
Q69* |
probably null |
Het |
| Gm29797 |
T |
C |
2: 181,300,850 (GRCm39) |
V115A |
possibly damaging |
Het |
| Ifih1 |
T |
C |
2: 62,428,603 (GRCm39) |
I891V |
probably benign |
Het |
| Ifnar2 |
C |
T |
16: 91,184,876 (GRCm39) |
T89M |
probably damaging |
Het |
| Kat6a |
C |
A |
8: 23,430,442 (GRCm39) |
N1932K |
unknown |
Het |
| Mgat5 |
A |
T |
1: 127,310,716 (GRCm39) |
D210V |
possibly damaging |
Het |
| Mmel1 |
A |
G |
4: 154,956,159 (GRCm39) |
|
probably null |
Het |
| Myh3 |
G |
T |
11: 66,988,843 (GRCm39) |
V1499L |
probably benign |
Het |
| Ncan |
A |
C |
8: 70,562,604 (GRCm39) |
D551E |
probably benign |
Het |
| Nol11 |
G |
T |
11: 107,062,442 (GRCm39) |
T598K |
possibly damaging |
Het |
| Olfml3 |
G |
A |
3: 103,643,776 (GRCm39) |
R202W |
probably damaging |
Het |
| Or2w4 |
G |
A |
13: 21,795,536 (GRCm39) |
T201I |
probably benign |
Het |
| Or4e2 |
A |
G |
14: 52,688,136 (GRCm39) |
R89G |
probably benign |
Het |
| Pcdh9 |
T |
C |
14: 93,253,169 (GRCm39) |
K1131E |
probably benign |
Het |
| Pcolce |
A |
G |
5: 137,603,561 (GRCm39) |
M424T |
probably damaging |
Het |
| Pi16 |
C |
A |
17: 29,546,413 (GRCm39) |
S397* |
probably null |
Het |
| Pi4ka |
A |
T |
16: 17,175,435 (GRCm39) |
Y464* |
probably null |
Het |
| Pik3c2b |
T |
A |
1: 132,998,095 (GRCm39) |
L324M |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,868,777 (GRCm39) |
N179S |
probably benign |
Het |
| Prss56 |
C |
T |
1: 87,113,134 (GRCm39) |
P183S |
probably benign |
Het |
| Prx |
T |
G |
7: 27,216,261 (GRCm39) |
M393R |
probably damaging |
Het |
| Qpctl |
T |
C |
7: 18,877,134 (GRCm39) |
D328G |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,617,993 (GRCm39) |
S940P |
probably benign |
Het |
| Rchy1 |
G |
A |
5: 92,105,826 (GRCm39) |
R41W |
probably damaging |
Het |
| Scp2d1 |
T |
C |
2: 144,665,868 (GRCm39) |
I69T |
possibly damaging |
Het |
| Sirpb1a |
A |
G |
3: 15,444,086 (GRCm39) |
V388A |
probably benign |
Het |
| Ssu2 |
G |
T |
6: 112,353,409 (GRCm39) |
C238* |
probably null |
Het |
| Stub1 |
C |
T |
17: 26,051,787 (GRCm39) |
G14D |
probably damaging |
Het |
| Tab1 |
T |
A |
15: 80,032,464 (GRCm39) |
C24S |
probably damaging |
Het |
| Tdrd1 |
T |
C |
19: 56,854,282 (GRCm39) |
V1076A |
probably damaging |
Het |
| Tex10 |
T |
C |
4: 48,468,525 (GRCm39) |
R134G |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,579,771 (GRCm39) |
N1525K |
probably benign |
Het |
| Tll2 |
G |
A |
19: 41,124,391 (GRCm39) |
T208I |
possibly damaging |
Het |
| Tmem232 |
T |
C |
17: 65,807,191 (GRCm39) |
M1V |
probably null |
Het |
| Ttc7b |
A |
G |
12: 100,353,368 (GRCm39) |
|
probably null |
Het |
| Ubb |
A |
G |
11: 62,443,351 (GRCm39) |
E127G |
possibly damaging |
Het |
| Ulk2 |
A |
T |
11: 61,678,330 (GRCm39) |
Y796* |
probably null |
Het |
| Vdac2 |
G |
A |
14: 21,895,246 (GRCm39) |
G265R |
possibly damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,486,301 (GRCm39) |
V329E |
probably benign |
Het |
| Zbtb47 |
G |
A |
9: 121,592,853 (GRCm39) |
R391Q |
possibly damaging |
Het |
|
| Other mutations in Gtf3c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00480:Gtf3c1
|
APN |
7 |
125,243,430 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL00535:Gtf3c1
|
APN |
7 |
125,243,325 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00778:Gtf3c1
|
APN |
7 |
125,266,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00832:Gtf3c1
|
APN |
7 |
125,253,632 (GRCm39) |
splice site |
probably benign |
|
|
IGL01383:Gtf3c1
|
APN |
7 |
125,298,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01472:Gtf3c1
|
APN |
7 |
125,250,226 (GRCm39) |
splice site |
probably benign |
|
|
IGL01743:Gtf3c1
|
APN |
7 |
125,262,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01867:Gtf3c1
|
APN |
7 |
125,261,548 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02016:Gtf3c1
|
APN |
7 |
125,267,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02096:Gtf3c1
|
APN |
7 |
125,258,284 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02121:Gtf3c1
|
APN |
7 |
125,245,903 (GRCm39) |
nonsense |
probably null |
|
|
IGL02226:Gtf3c1
|
APN |
7 |
125,267,162 (GRCm39) |
splice site |
probably null |
|
|
IGL02376:Gtf3c1
|
APN |
7 |
125,268,168 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL02581:Gtf3c1
|
APN |
7 |
125,245,687 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02750:Gtf3c1
|
APN |
7 |
125,275,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03063:Gtf3c1
|
APN |
7 |
125,245,675 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03167:Gtf3c1
|
APN |
7 |
125,269,752 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0052:Gtf3c1
|
UTSW |
7 |
125,267,143 (GRCm39) |
splice site |
probably null |
|
|
R0266:Gtf3c1
|
UTSW |
7 |
125,243,306 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0378:Gtf3c1
|
UTSW |
7 |
125,246,786 (GRCm39) |
nonsense |
probably null |
|
|
R0387:Gtf3c1
|
UTSW |
7 |
125,280,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Gtf3c1
|
UTSW |
7 |
125,262,188 (GRCm39) |
nonsense |
probably null |
|
|
R0458:Gtf3c1
|
UTSW |
7 |
125,243,306 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0613:Gtf3c1
|
UTSW |
7 |
125,243,306 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0634:Gtf3c1
|
UTSW |
7 |
125,256,649 (GRCm39) |
unclassified |
probably benign |
|
|
R0658:Gtf3c1
|
UTSW |
7 |
125,298,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0904:Gtf3c1
|
UTSW |
7 |
125,268,014 (GRCm39) |
splice site |
probably benign |
|
|
R1051:Gtf3c1
|
UTSW |
7 |
125,306,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1481:Gtf3c1
|
UTSW |
7 |
125,292,310 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1590:Gtf3c1
|
UTSW |
7 |
125,275,833 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1782:Gtf3c1
|
UTSW |
7 |
125,266,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1981:Gtf3c1
|
UTSW |
7 |
125,243,444 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2513:Gtf3c1
|
UTSW |
7 |
125,280,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2697:Gtf3c1
|
UTSW |
7 |
125,243,126 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3963:Gtf3c1
|
UTSW |
7 |
125,292,397 (GRCm39) |
splice site |
probably null |
|
|
R4125:Gtf3c1
|
UTSW |
7 |
125,246,622 (GRCm39) |
nonsense |
probably null |
|
|
R4127:Gtf3c1
|
UTSW |
7 |
125,246,622 (GRCm39) |
nonsense |
probably null |
|
|
R4646:Gtf3c1
|
UTSW |
7 |
125,258,266 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4653:Gtf3c1
|
UTSW |
7 |
125,273,272 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4668:Gtf3c1
|
UTSW |
7 |
125,266,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4803:Gtf3c1
|
UTSW |
7 |
125,262,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5138:Gtf3c1
|
UTSW |
7 |
125,246,664 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5149:Gtf3c1
|
UTSW |
7 |
125,267,209 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5286:Gtf3c1
|
UTSW |
7 |
125,262,580 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5437:Gtf3c1
|
UTSW |
7 |
125,266,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Gtf3c1
|
UTSW |
7 |
125,269,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5610:Gtf3c1
|
UTSW |
7 |
125,303,117 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5656:Gtf3c1
|
UTSW |
7 |
125,261,826 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5754:Gtf3c1
|
UTSW |
7 |
125,243,237 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5969:Gtf3c1
|
UTSW |
7 |
125,244,848 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6009:Gtf3c1
|
UTSW |
7 |
125,246,602 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6580:Gtf3c1
|
UTSW |
7 |
125,243,519 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6628:Gtf3c1
|
UTSW |
7 |
125,267,246 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6774:Gtf3c1
|
UTSW |
7 |
125,240,793 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6781:Gtf3c1
|
UTSW |
7 |
125,258,369 (GRCm39) |
nonsense |
probably null |
|
|
R6978:Gtf3c1
|
UTSW |
7 |
125,244,706 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7078:Gtf3c1
|
UTSW |
7 |
125,244,914 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7096:Gtf3c1
|
UTSW |
7 |
125,295,731 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7146:Gtf3c1
|
UTSW |
7 |
125,271,993 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7246:Gtf3c1
|
UTSW |
7 |
125,268,266 (GRCm39) |
|
|
|
|
R7330:Gtf3c1
|
UTSW |
7 |
125,303,055 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7345:Gtf3c1
|
UTSW |
7 |
125,244,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7480:Gtf3c1
|
UTSW |
7 |
125,241,713 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7490:Gtf3c1
|
UTSW |
7 |
125,246,663 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7555:Gtf3c1
|
UTSW |
7 |
125,244,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7895:Gtf3c1
|
UTSW |
7 |
125,271,994 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7949:Gtf3c1
|
UTSW |
7 |
125,250,253 (GRCm39) |
missense |
probably benign |
|
|
R8123:Gtf3c1
|
UTSW |
7 |
125,303,196 (GRCm39) |
start gained |
probably benign |
|
|
R8295:Gtf3c1
|
UTSW |
7 |
125,262,234 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8421:Gtf3c1
|
UTSW |
7 |
125,298,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8438:Gtf3c1
|
UTSW |
7 |
125,241,701 (GRCm39) |
nonsense |
probably null |
|
|
R8517:Gtf3c1
|
UTSW |
7 |
125,253,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8970:Gtf3c1
|
UTSW |
7 |
125,272,227 (GRCm39) |
unclassified |
probably benign |
|
|
R9005:Gtf3c1
|
UTSW |
7 |
125,303,069 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9156:Gtf3c1
|
UTSW |
7 |
125,244,949 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9292:Gtf3c1
|
UTSW |
7 |
125,273,563 (GRCm39) |
intron |
probably benign |
|
|
R9400:Gtf3c1
|
UTSW |
7 |
125,275,683 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9658:Gtf3c1
|
UTSW |
7 |
125,306,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9660:Gtf3c1
|
UTSW |
7 |
125,262,199 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
X0065:Gtf3c1
|
UTSW |
7 |
125,240,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Gtf3c1
|
UTSW |
7 |
125,303,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Gtf3c1
|
UTSW |
7 |
125,266,294 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTGTCCCTGGATTCGAG -3'
(R):5'- GTTTTGTACTCCAAGACTGTAGAGTG -3'
Sequencing Primer
(F):5'- GTCCCTGGATTCGAGTACTGAAC -3'
(R):5'- TCCAAGACTGTAGAGTGAGCCC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation