Incidental Mutation 'R7096:Gtf3c1'
| ID |
550489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf3c1
|
| Ensembl Gene |
ENSMUSG00000032777 |
| Gene Name |
general transcription factor III C 1 |
| Synonyms |
|
| MMRRC Submission |
045188-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7096 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
125240126-125306860 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 125295731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055506]
[ENSMUST00000205444]
[ENSMUST00000205659]
[ENSMUST00000206127]
|
| AlphaFold |
Q8K284 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055506
|
| SMART Domains |
Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
| 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 null
Transcript: ENSMUST00000205659
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206127
|
| Meta Mutation Damage Score |
0.9503 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (68/70) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
G |
3: 40,888,305 (GRCm39) |
M383R |
probably damaging |
Het |
| Acd |
T |
A |
8: 106,425,121 (GRCm39) |
E366V |
possibly damaging |
Het |
| Acvr2b |
T |
A |
9: 119,257,255 (GRCm39) |
|
probably null |
Het |
| Alg10b |
C |
T |
15: 90,111,564 (GRCm39) |
T136I |
probably benign |
Het |
| Ankrd42 |
T |
A |
7: 92,241,040 (GRCm39) |
K440* |
probably null |
Het |
| Apc |
T |
A |
18: 34,449,010 (GRCm39) |
S1969T |
probably damaging |
Het |
| Arhgef25 |
T |
C |
10: 127,019,897 (GRCm39) |
Y447C |
probably damaging |
Het |
| AW146154 |
G |
A |
7: 41,130,867 (GRCm39) |
A83V |
probably benign |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Barhl1 |
T |
G |
2: 28,799,726 (GRCm39) |
I300L |
probably benign |
Het |
| Brd1 |
C |
A |
15: 88,598,138 (GRCm39) |
R536L |
probably damaging |
Het |
| Brms1 |
T |
A |
19: 5,096,708 (GRCm39) |
I130N |
probably damaging |
Het |
| Ccdc68 |
A |
G |
18: 70,073,241 (GRCm39) |
H63R |
probably damaging |
Het |
| Ccl28 |
A |
G |
13: 120,112,429 (GRCm39) |
I74V |
probably benign |
Het |
| Cd300ld |
T |
A |
11: 114,878,321 (GRCm39) |
I64F |
possibly damaging |
Het |
| Cdkl2 |
G |
A |
5: 92,181,043 (GRCm39) |
Q199* |
probably null |
Het |
| Cdkn2c |
C |
T |
4: 109,518,555 (GRCm39) |
R133Q |
probably benign |
Het |
| Coq2 |
A |
G |
5: 100,811,586 (GRCm39) |
|
probably benign |
Het |
| Coq6 |
T |
C |
12: 84,408,595 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
C |
T |
4: 128,356,519 (GRCm39) |
S1608L |
|
Het |
| Cyp11b2 |
T |
A |
15: 74,727,837 (GRCm39) |
R82W |
probably damaging |
Het |
| Cyp2d10 |
T |
C |
15: 82,289,462 (GRCm39) |
T217A |
probably benign |
Het |
| Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,522,599 (GRCm39) |
I2880V |
possibly damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,623,512 (GRCm39) |
T3595K |
probably damaging |
Het |
| Ecscr |
T |
A |
18: 35,848,478 (GRCm39) |
E183V |
probably damaging |
Het |
| Elovl6 |
A |
G |
3: 129,398,755 (GRCm39) |
N52S |
probably benign |
Het |
| Eps8l1 |
G |
T |
7: 4,477,190 (GRCm39) |
A455S |
probably benign |
Het |
| Gpat2 |
A |
G |
2: 127,270,209 (GRCm39) |
N74S |
probably benign |
Het |
| Gstk1 |
C |
A |
6: 42,226,407 (GRCm39) |
T172K |
probably damaging |
Het |
| Gucy2c |
T |
C |
6: 136,705,339 (GRCm39) |
D532G |
probably benign |
Het |
| Hoxc12 |
T |
A |
15: 102,845,473 (GRCm39) |
N62K |
possibly damaging |
Het |
| Hsdl1 |
C |
A |
8: 120,293,064 (GRCm39) |
A124S |
possibly damaging |
Het |
| Il11 |
T |
C |
7: 4,778,995 (GRCm39) |
Y45C |
probably damaging |
Het |
| Lcat |
C |
T |
8: 106,666,309 (GRCm39) |
M404I |
possibly damaging |
Het |
| Ldhb |
A |
G |
6: 142,447,099 (GRCm39) |
F72L |
probably benign |
Het |
| Map10 |
T |
C |
8: 126,398,662 (GRCm39) |
L685P |
probably damaging |
Het |
| Me2 |
A |
G |
18: 73,927,961 (GRCm39) |
V174A |
probably benign |
Het |
| Med13l |
C |
A |
5: 118,859,991 (GRCm39) |
Q328K |
possibly damaging |
Het |
| Mta2 |
A |
T |
19: 8,925,139 (GRCm39) |
I336F |
probably damaging |
Het |
| Mterf1a |
A |
T |
5: 3,941,769 (GRCm39) |
I33N |
probably damaging |
Het |
| Myo15b |
T |
A |
11: 115,782,324 (GRCm39) |
|
probably null |
Het |
| Myof |
C |
A |
19: 37,924,648 (GRCm39) |
G1215V |
probably damaging |
Het |
| Nlgn2 |
G |
A |
11: 69,716,516 (GRCm39) |
T675M |
probably damaging |
Het |
| Or1e26 |
T |
A |
11: 73,480,463 (GRCm39) |
M34L |
probably benign |
Het |
| Or5p61 |
C |
A |
7: 107,758,848 (GRCm39) |
M77I |
probably benign |
Het |
| Or6c38 |
T |
C |
10: 128,929,715 (GRCm39) |
I43V |
probably damaging |
Het |
| Padi3 |
T |
C |
4: 140,527,435 (GRCm39) |
D122G |
probably damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,722,643 (GRCm39) |
R1350C |
probably damaging |
Het |
| Pdzrn4 |
C |
A |
15: 92,295,384 (GRCm39) |
Q197K |
probably benign |
Het |
| Pitpnm2 |
C |
T |
5: 124,267,324 (GRCm39) |
G639S |
possibly damaging |
Het |
| Piwil4 |
T |
A |
9: 14,648,112 (GRCm39) |
K156* |
probably null |
Het |
| Pkmyt1 |
T |
A |
17: 23,953,087 (GRCm39) |
H214Q |
probably damaging |
Het |
| Pnpt1 |
G |
A |
11: 29,104,867 (GRCm39) |
R597Q |
probably benign |
Het |
| Poteg |
C |
A |
8: 27,963,595 (GRCm39) |
A344E |
probably benign |
Het |
| Rad21l |
A |
G |
2: 151,509,840 (GRCm39) |
M87T |
probably benign |
Het |
| Ranbp17 |
T |
C |
11: 33,424,896 (GRCm39) |
I487V |
probably benign |
Het |
| Rap1gap2 |
C |
A |
11: 74,283,057 (GRCm39) |
R681L |
probably damaging |
Het |
| Rimbp2 |
C |
A |
5: 128,851,333 (GRCm39) |
R871L |
probably damaging |
Het |
| Rnf135 |
T |
C |
11: 80,080,051 (GRCm39) |
V114A |
probably benign |
Het |
| Skic2 |
T |
A |
17: 35,060,446 (GRCm39) |
H849L |
probably benign |
Het |
| Snai2 |
A |
G |
16: 14,525,028 (GRCm39) |
H178R |
possibly damaging |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Taar1 |
A |
T |
10: 23,796,809 (GRCm39) |
E169V |
possibly damaging |
Het |
| Tdrd12 |
G |
T |
7: 35,187,014 (GRCm39) |
D625E |
|
Het |
| Tlr6 |
A |
G |
5: 65,111,119 (GRCm39) |
V596A |
probably benign |
Het |
| Trak2 |
T |
G |
1: 58,942,749 (GRCm39) |
N886H |
probably damaging |
Het |
| Tsga10 |
T |
A |
1: 37,879,695 (GRCm39) |
D32V |
probably damaging |
Het |
| Vmn1r214 |
A |
G |
13: 23,219,196 (GRCm39) |
D230G |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,682,762 (GRCm39) |
L814S |
probably damaging |
Het |
| Zbbx |
T |
C |
3: 74,989,044 (GRCm39) |
D353G |
probably benign |
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 |
|
R6223:Gtf3c1
|
UTSW |
7 |
125,275,797 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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'- TGCGAGTCTTCAGTGAATCC -3'
(R):5'- TTGGCCAAGTGTCACCGAAG -3'
Sequencing Primer
(F):5'- GAGTCTTCAGTGAATCCCTTTCTAAC -3'
(R):5'- TGAGAGGCCCCTAACCTTTAAAGTG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation