Incidental Mutation 'R7555:Gtf3c1'
ID |
584699 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gtf3c1
|
Ensembl Gene |
ENSMUSG00000032777 |
Gene Name |
general transcription factor III C 1 |
Synonyms |
|
MMRRC Submission |
045623-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7555 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
125240126-125306860 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 125244842 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 1731
(Y1731H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055506]
[ENSMUST00000205659]
[ENSMUST00000206183]
|
AlphaFold |
Q8K284 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055506
AA Change: Y1731H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000056719 Gene: ENSMUSG00000032777 AA Change: Y1731H
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 |
possibly damaging
Transcript: ENSMUST00000205659
AA Change: Y1635H
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206183
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (83/83) |
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm1 |
T |
A |
4: 144,248,924 (GRCm39) |
I97N |
probably damaging |
Het |
Acvrl1 |
A |
G |
15: 101,041,354 (GRCm39) |
H502R |
probably benign |
Het |
Adgrf4 |
T |
C |
17: 42,983,494 (GRCm39) |
S63G |
probably benign |
Het |
Agbl2 |
C |
A |
2: 90,621,899 (GRCm39) |
L129I |
probably damaging |
Het |
Ankrd11 |
C |
A |
8: 123,614,145 (GRCm39) |
A2542S |
probably damaging |
Het |
Armc9 |
A |
G |
1: 86,203,400 (GRCm39) |
K818R |
probably damaging |
Het |
Arsj |
T |
A |
3: 126,231,885 (GRCm39) |
C210* |
probably null |
Het |
Aspscr1 |
C |
T |
11: 120,563,926 (GRCm39) |
A11V |
unknown |
Het |
Bicc1 |
G |
T |
10: 70,792,121 (GRCm39) |
Q296K |
possibly damaging |
Het |
Borcs5 |
A |
C |
6: 134,662,942 (GRCm39) |
Q73P |
probably benign |
Het |
Capn15 |
G |
T |
17: 26,182,406 (GRCm39) |
D567E |
probably damaging |
Het |
Catsperg1 |
A |
C |
7: 28,889,239 (GRCm39) |
I866S |
probably damaging |
Het |
Ccdc27 |
G |
T |
4: 154,126,274 (GRCm39) |
H72N |
unknown |
Het |
Ccser2 |
A |
T |
14: 36,601,457 (GRCm39) |
M309K |
possibly damaging |
Het |
Cd1d2 |
A |
G |
3: 86,894,408 (GRCm39) |
S59G |
probably benign |
Het |
Chml |
G |
A |
1: 175,515,456 (GRCm39) |
P155L |
probably benign |
Het |
Csmd2 |
C |
T |
4: 128,346,251 (GRCm39) |
P1504S |
|
Het |
Dcbld2 |
A |
G |
16: 58,269,081 (GRCm39) |
|
probably null |
Het |
Ddx21 |
C |
T |
10: 62,434,022 (GRCm39) |
E246K |
probably benign |
Het |
Dhx29 |
C |
T |
13: 113,064,176 (GRCm39) |
|
probably benign |
Het |
Dis3l |
A |
C |
9: 64,219,219 (GRCm39) |
Y570* |
probably null |
Het |
Dnah14 |
T |
A |
1: 181,597,619 (GRCm39) |
Y3623N |
probably benign |
Het |
Dock8 |
A |
G |
19: 25,152,764 (GRCm39) |
D1610G |
probably damaging |
Het |
Dync1h1 |
T |
C |
12: 110,597,059 (GRCm39) |
S1669P |
probably benign |
Het |
Eif1ad12 |
A |
C |
12: 87,541,505 (GRCm39) |
K5N |
unknown |
Het |
Eif2ak4 |
T |
A |
2: 118,247,764 (GRCm39) |
I267N |
possibly damaging |
Het |
Ern2 |
A |
T |
7: 121,769,464 (GRCm39) |
V854E |
probably damaging |
Het |
Fuca2 |
G |
A |
10: 13,383,174 (GRCm39) |
|
probably null |
Het |
Gbp10 |
G |
A |
5: 105,384,015 (GRCm39) |
|
probably benign |
Het |
Gm1110 |
T |
A |
9: 26,804,924 (GRCm39) |
T380S |
probably benign |
Het |
Golga2 |
G |
A |
2: 32,178,178 (GRCm39) |
R29H |
probably benign |
Het |
Grik5 |
T |
C |
7: 24,760,022 (GRCm39) |
E259G |
probably benign |
Het |
Grm3 |
T |
C |
5: 9,620,000 (GRCm39) |
T415A |
probably benign |
Het |
Hectd2 |
T |
C |
19: 36,589,803 (GRCm39) |
C643R |
probably damaging |
Het |
Hgfac |
T |
C |
5: 35,199,972 (GRCm39) |
S118P |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,480,625 (GRCm39) |
V4517A |
probably benign |
Het |
Hnrnpc |
A |
T |
14: 52,312,610 (GRCm39) |
L290* |
probably null |
Het |
Homer3 |
A |
G |
8: 70,742,063 (GRCm39) |
E108G |
probably damaging |
Het |
Hsd17b3 |
G |
T |
13: 64,219,816 (GRCm39) |
S141R |
probably benign |
Het |
Hspa12b |
C |
T |
2: 130,980,396 (GRCm39) |
T105I |
probably damaging |
Het |
Ifi202b |
T |
C |
1: 173,799,787 (GRCm39) |
I231M |
probably damaging |
Het |
Inhba |
T |
A |
13: 16,192,222 (GRCm39) |
N114K |
probably benign |
Het |
Kmt2b |
C |
A |
7: 30,268,835 (GRCm39) |
M2631I |
possibly damaging |
Het |
Loxhd1 |
C |
T |
18: 77,483,061 (GRCm39) |
T1214I |
probably damaging |
Het |
Lrp1 |
G |
T |
10: 127,382,731 (GRCm39) |
N3683K |
probably damaging |
Het |
Lrrc8e |
A |
G |
8: 4,284,363 (GRCm39) |
K196R |
probably benign |
Het |
Lrrn3 |
A |
T |
12: 41,502,910 (GRCm39) |
M469K |
probably benign |
Het |
Mafb |
T |
C |
2: 160,207,749 (GRCm39) |
E283G |
probably damaging |
Het |
Mapt |
C |
A |
11: 104,189,528 (GRCm39) |
P182Q |
probably benign |
Het |
Mmp14 |
G |
T |
14: 54,675,199 (GRCm39) |
R277L |
possibly damaging |
Het |
Mucl2 |
T |
A |
15: 103,927,711 (GRCm39) |
N82I |
probably benign |
Het |
Nsun6 |
T |
A |
2: 15,001,150 (GRCm39) |
T469S |
possibly damaging |
Het |
Or13p4 |
T |
C |
4: 118,546,839 (GRCm39) |
D270G |
possibly damaging |
Het |
Or5p79 |
G |
C |
7: 108,221,933 (GRCm39) |
A305P |
probably damaging |
Het |
Or8k30 |
A |
C |
2: 86,339,691 (GRCm39) |
D296A |
probably damaging |
Het |
Osbpl5 |
A |
T |
7: 143,248,670 (GRCm39) |
F631I |
possibly damaging |
Het |
Otud3 |
G |
T |
4: 138,629,196 (GRCm39) |
D190E |
possibly damaging |
Het |
Pcdhb6 |
A |
T |
18: 37,468,332 (GRCm39) |
I418F |
possibly damaging |
Het |
Per1 |
G |
A |
11: 68,997,339 (GRCm39) |
R838H |
probably damaging |
Het |
Per2 |
G |
A |
1: 91,362,857 (GRCm39) |
P395S |
probably damaging |
Het |
Per3 |
G |
A |
4: 151,102,515 (GRCm39) |
Q583* |
probably null |
Het |
Pkhd1l1 |
A |
T |
15: 44,414,157 (GRCm39) |
H2808L |
possibly damaging |
Het |
Ppfia2 |
A |
G |
10: 106,763,687 (GRCm39) |
T1227A |
probably benign |
Het |
Pramel30 |
T |
C |
4: 144,059,311 (GRCm39) |
F341L |
probably benign |
Het |
Psg17 |
C |
T |
7: 18,551,019 (GRCm39) |
D279N |
probably benign |
Het |
Rnf167 |
A |
G |
11: 70,541,623 (GRCm39) |
D235G |
probably benign |
Het |
Rxfp3 |
A |
G |
15: 11,036,362 (GRCm39) |
S337P |
probably damaging |
Het |
Sall1 |
T |
C |
8: 89,759,786 (GRCm39) |
D106G |
possibly damaging |
Het |
Sema4f |
A |
G |
6: 82,891,037 (GRCm39) |
V590A |
probably benign |
Het |
Setd1b |
A |
G |
5: 123,295,820 (GRCm39) |
D1102G |
unknown |
Het |
Six2 |
C |
A |
17: 85,995,135 (GRCm39) |
K82N |
probably damaging |
Het |
Snx29 |
T |
C |
16: 11,218,806 (GRCm39) |
M214T |
probably benign |
Het |
Son |
T |
C |
16: 91,455,810 (GRCm39) |
L1519P |
probably damaging |
Het |
Speer1h |
A |
T |
5: 11,647,579 (GRCm39) |
N106Y |
probably damaging |
Het |
Spin1 |
C |
T |
13: 51,303,085 (GRCm39) |
S226L |
probably benign |
Het |
Stxbp5l |
T |
C |
16: 37,143,965 (GRCm39) |
D131G |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,069,422 (GRCm39) |
Y2788C |
probably damaging |
Het |
Tbl3 |
C |
A |
17: 24,920,950 (GRCm39) |
|
probably null |
Het |
Themis |
A |
T |
10: 28,657,698 (GRCm39) |
I242L |
possibly damaging |
Het |
Tmem203 |
G |
A |
2: 25,145,742 (GRCm39) |
V21M |
probably benign |
Het |
Trp53inp1 |
T |
C |
4: 11,169,750 (GRCm39) |
C171R |
probably benign |
Het |
Tsg101 |
A |
G |
7: 46,563,159 (GRCm39) |
Y32H |
probably damaging |
Het |
Tyw1 |
A |
G |
5: 130,303,547 (GRCm39) |
D305G |
probably damaging |
Het |
Vmn1r40 |
A |
T |
6: 89,692,026 (GRCm39) |
Y281F |
probably damaging |
Het |
Vmn2r105 |
T |
A |
17: 20,447,937 (GRCm39) |
T296S |
probably damaging |
Het |
Vmn2r13 |
T |
C |
5: 109,319,557 (GRCm39) |
|
probably null |
Het |
Zfp933 |
A |
G |
4: 147,910,589 (GRCm39) |
F336L |
probably 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 |
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 |
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 |
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'- ACTTCTGCAGTGGAGTGGTC -3'
(R):5'- TATGTGTTGGGCCCAAGAAGG -3'
Sequencing Primer
(F):5'- CAGCTGTTGTCTGGAGCTCAG -3'
(R):5'- CCAAGAAGGGTTTCTGTGGGC -3'
|
Posted On |
2019-10-17 |