Incidental Mutation 'R0387:Gtf3c1'
| ID |
65517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf3c1
|
| Ensembl Gene |
ENSMUSG00000032777 |
| Gene Name |
general transcription factor III C 1 |
| Synonyms |
|
| MMRRC Submission |
038593-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0387 (G1)
|
| Quality Score |
143 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
125240126-125306860 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125280276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 378
(L378P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055506]
[ENSMUST00000205444]
[ENSMUST00000205659]
|
| AlphaFold |
Q8K284 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055506
AA Change: L378P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: L378P
| 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 damaging
Transcript: ENSMUST00000205659
AA Change: L378P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205697
|
| Meta Mutation Damage Score |
0.9185 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.7%
- 10x: 94.2%
- 20x: 85.0%
|
| Validation Efficiency |
99% (77/78) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
G |
7: 119,932,075 (GRCm39) |
|
probably null |
Het |
| Abcc9 |
T |
A |
6: 142,585,230 (GRCm39) |
K825* |
probably null |
Het |
| Afp |
T |
C |
5: 90,645,150 (GRCm39) |
C189R |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,001,678 (GRCm39) |
|
probably benign |
Het |
| Alpk3 |
A |
T |
7: 80,753,975 (GRCm39) |
T1652S |
possibly damaging |
Het |
| Atg4b |
C |
A |
1: 93,714,278 (GRCm39) |
Q354K |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,940,206 (GRCm39) |
S388P |
possibly damaging |
Het |
| C2cd3 |
T |
A |
7: 100,071,714 (GRCm39) |
|
probably benign |
Het |
| Cacna2d2 |
C |
A |
9: 107,391,080 (GRCm39) |
T403K |
probably damaging |
Het |
| Cap2 |
C |
T |
13: 46,713,992 (GRCm39) |
H79Y |
probably damaging |
Het |
| Car10 |
G |
T |
11: 93,473,847 (GRCm39) |
|
probably null |
Het |
| Ccno |
T |
C |
13: 113,126,401 (GRCm39) |
L290P |
probably damaging |
Het |
| Cfap69 |
T |
C |
5: 5,639,303 (GRCm39) |
K624E |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 64,421,909 (GRCm39) |
M568V |
probably benign |
Het |
| Cyp1b1 |
C |
A |
17: 80,021,203 (GRCm39) |
V180L |
probably benign |
Het |
| Cyp2u1 |
G |
T |
3: 131,089,201 (GRCm39) |
|
probably null |
Het |
| Dcp1a |
T |
C |
14: 30,241,636 (GRCm39) |
|
probably null |
Het |
| Dnm1 |
C |
T |
2: 32,210,593 (GRCm39) |
G1S |
possibly damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,829,509 (GRCm39) |
L698P |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,517,993 (GRCm39) |
C1327F |
probably damaging |
Het |
| Dph3b-ps |
A |
G |
13: 106,683,363 (GRCm39) |
|
noncoding transcript |
Het |
| Dpyd |
G |
A |
3: 119,220,875 (GRCm39) |
D949N |
probably benign |
Het |
| Dync2li1 |
A |
G |
17: 84,962,768 (GRCm39) |
K345E |
possibly damaging |
Het |
| Eml2 |
T |
A |
7: 18,916,184 (GRCm39) |
|
probably null |
Het |
| Exoc7 |
A |
G |
11: 116,185,227 (GRCm39) |
|
probably benign |
Het |
| Faah |
A |
T |
4: 115,862,889 (GRCm39) |
C113* |
probably null |
Het |
| Fcf1 |
T |
A |
12: 85,019,776 (GRCm39) |
D16E |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,790,879 (GRCm39) |
|
probably benign |
Het |
| Ghr |
A |
G |
15: 3,349,373 (GRCm39) |
S602P |
probably benign |
Het |
| Gm5114 |
T |
C |
7: 39,058,233 (GRCm39) |
D462G |
probably benign |
Het |
| Gm8186 |
T |
A |
17: 26,318,000 (GRCm39) |
S66C |
probably damaging |
Het |
| Gorab |
C |
T |
1: 163,224,403 (GRCm39) |
V133M |
probably benign |
Het |
| Gria1 |
G |
A |
11: 57,200,710 (GRCm39) |
|
probably null |
Het |
| Grik1 |
T |
A |
16: 87,831,238 (GRCm39) |
|
probably benign |
Het |
| Htr5b |
A |
T |
1: 121,455,275 (GRCm39) |
V215D |
probably damaging |
Het |
| Htra1 |
A |
G |
7: 130,581,208 (GRCm39) |
T319A |
probably damaging |
Het |
| Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
| Klrb1a |
A |
C |
6: 128,586,697 (GRCm39) |
H189Q |
possibly damaging |
Het |
| Lhfpl6 |
A |
G |
3: 52,950,749 (GRCm39) |
T8A |
probably benign |
Het |
| Ly75 |
T |
A |
2: 60,136,748 (GRCm39) |
Y1493F |
probably benign |
Het |
| Mfsd5 |
T |
C |
15: 102,189,531 (GRCm39) |
I301T |
possibly damaging |
Het |
| Mlkl |
C |
T |
8: 112,059,982 (GRCm39) |
E135K |
probably damaging |
Het |
| Mrgprx2 |
A |
C |
7: 48,148,908 (GRCm39) |
M1R |
probably null |
Het |
| Mroh2a |
G |
C |
1: 88,173,764 (GRCm39) |
A871P |
probably damaging |
Het |
| Mtbp |
A |
G |
15: 55,474,425 (GRCm39) |
I280V |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,192,303 (GRCm39) |
|
probably benign |
Het |
| Nos3 |
A |
G |
5: 24,572,583 (GRCm39) |
K174R |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,883,737 (GRCm39) |
|
probably benign |
Het |
| Or8b40 |
T |
A |
9: 38,027,066 (GRCm39) |
|
probably null |
Het |
| Pi4kb |
G |
C |
3: 94,892,051 (GRCm39) |
E256Q |
probably benign |
Het |
| Pik3c2a |
T |
A |
7: 115,972,979 (GRCm39) |
I739F |
probably damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,262,945 (GRCm39) |
K1031N |
probably benign |
Het |
| Plk4 |
A |
T |
3: 40,767,319 (GRCm39) |
|
probably benign |
Het |
| Polq |
T |
C |
16: 36,849,792 (GRCm39) |
C349R |
probably damaging |
Het |
| Polq |
G |
T |
16: 36,909,679 (GRCm39) |
E2354D |
probably damaging |
Het |
| Prss22 |
A |
G |
17: 24,212,903 (GRCm39) |
L278P |
probably damaging |
Het |
| Prss3l |
A |
G |
6: 41,420,303 (GRCm39) |
I141T |
possibly damaging |
Het |
| Ptprk |
G |
A |
10: 28,230,625 (GRCm39) |
V239I |
possibly damaging |
Het |
| Raph1 |
T |
G |
1: 60,549,655 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Ripor3 |
C |
T |
2: 167,825,692 (GRCm39) |
W755* |
probably null |
Het |
| Rnd3 |
G |
T |
2: 51,038,243 (GRCm39) |
D77E |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,782,792 (GRCm39) |
|
probably benign |
Het |
| Serpinb1a |
C |
T |
13: 33,032,721 (GRCm39) |
V63I |
probably benign |
Het |
| Six1 |
T |
G |
12: 73,092,815 (GRCm39) |
Y129S |
probably damaging |
Het |
| Spata31d1a |
G |
A |
13: 59,851,315 (GRCm39) |
T271I |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,870,058 (GRCm39) |
D1387G |
probably benign |
Het |
| Stra6 |
T |
A |
9: 58,060,466 (GRCm39) |
M625K |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,301,029 (GRCm39) |
S900G |
probably benign |
Het |
| Tdpoz4 |
A |
C |
3: 93,704,007 (GRCm39) |
K101N |
probably benign |
Het |
| Tigd2 |
T |
C |
6: 59,188,143 (GRCm39) |
Y337H |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,902,548 (GRCm39) |
I1134V |
probably benign |
Het |
| Tspyl5 |
A |
G |
15: 33,687,081 (GRCm39) |
I288T |
probably damaging |
Het |
| Ulk1 |
A |
G |
5: 110,936,663 (GRCm39) |
V61A |
possibly damaging |
Het |
| Xxylt1 |
A |
G |
16: 30,776,194 (GRCm39) |
Y381H |
probably benign |
Het |
| Zcchc9 |
T |
A |
13: 91,949,066 (GRCm39) |
M12L |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,358,953 (GRCm39) |
|
probably null |
Het |
| Zfp74 |
T |
A |
7: 29,634,179 (GRCm39) |
T510S |
probably benign |
Het |
| Zfp808 |
A |
G |
13: 62,317,292 (GRCm39) |
T14A |
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 |
|
|
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 |
|
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'- ATCTAGGAGGCAACAAGGCTCCAC -3'
(R):5'- TTGCAGTGATGACAGGTCAGCTATG -3'
Sequencing Primer
(F):5'- aacaaggcTCCACCCTGAAC -3'
(R):5'- ATCAATGCTCTCCCATGAGGTG -3'
|
| Posted On |
2013-08-08 |
Incidental Mutation