Incidental Mutation 'R5754:Gtf3c1'
| ID |
444953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf3c1
|
| Ensembl Gene |
ENSMUSG00000032777 |
| Gene Name |
general transcription factor III C 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5754 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
125240126-125306860 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 125243237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 1789
(V1789D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055506]
[ENSMUST00000205659]
[ENSMUST00000206183]
|
| AlphaFold |
Q8K284 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055506
AA Change: V1885D
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: V1885D
| 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: V1789D
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206042
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206183
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
98% (61/62) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
A |
5: 8,984,320 (GRCm39) |
N683K |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,060,351 (GRCm39) |
H915Q |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,160,367 (GRCm39) |
S609P |
probably damaging |
Het |
| Camk1d |
G |
T |
2: 5,449,908 (GRCm39) |
P91Q |
probably benign |
Het |
| Camk1d |
G |
C |
2: 5,449,910 (GRCm39) |
S90R |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,885,524 (GRCm39) |
E345G |
probably damaging |
Het |
| Ccpg1 |
G |
T |
9: 72,920,526 (GRCm39) |
V714L |
possibly damaging |
Het |
| Chst9 |
T |
C |
18: 15,586,254 (GRCm39) |
E103G |
possibly damaging |
Het |
| Cnga1 |
C |
T |
5: 72,762,615 (GRCm39) |
V300I |
probably benign |
Het |
| Crb1 |
T |
C |
1: 139,159,337 (GRCm39) |
Y1295C |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,402,014 (GRCm39) |
T3392A |
probably benign |
Het |
| Elp3 |
C |
A |
14: 65,785,439 (GRCm39) |
R473L |
probably damaging |
Het |
| Epgn |
T |
A |
5: 91,181,807 (GRCm39) |
I145N |
probably benign |
Het |
| Fam107b |
G |
A |
2: 3,779,457 (GRCm39) |
G220D |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,257,383 (GRCm39) |
V328A |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,639,481 (GRCm39) |
I1770N |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,988,585 (GRCm39) |
Y1159F |
unknown |
Het |
| Frem2 |
A |
G |
3: 53,444,679 (GRCm39) |
L2484P |
probably damaging |
Het |
| Grk2 |
C |
T |
19: 4,340,496 (GRCm39) |
R295H |
probably damaging |
Het |
| Hmgcl |
T |
C |
4: 135,677,898 (GRCm39) |
V33A |
probably damaging |
Het |
| Ighv7-1 |
A |
G |
12: 113,860,239 (GRCm39) |
F51S |
probably damaging |
Het |
| Kcna6 |
A |
G |
6: 126,716,688 (GRCm39) |
L67P |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,123,030 (GRCm39) |
V720E |
probably benign |
Het |
| Lrch1 |
T |
C |
14: 75,054,558 (GRCm39) |
D312G |
probably damaging |
Het |
| Mix23 |
A |
G |
16: 35,905,427 (GRCm39) |
N63S |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,206,794 (GRCm39) |
T1540A |
probably damaging |
Het |
| Nisch |
A |
T |
14: 30,913,373 (GRCm39) |
|
probably benign |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Npc1l1 |
A |
G |
11: 6,177,839 (GRCm39) |
Y524H |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,377,916 (GRCm39) |
T25A |
possibly damaging |
Het |
| Nusap1 |
A |
G |
2: 119,477,580 (GRCm39) |
K363R |
probably damaging |
Het |
| Or5ar1 |
T |
C |
2: 85,671,656 (GRCm39) |
T160A |
probably damaging |
Het |
| Or5b124 |
A |
G |
19: 13,611,357 (GRCm39) |
E294G |
probably damaging |
Het |
| Or7e177 |
T |
A |
9: 20,212,390 (GRCm39) |
L298Q |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 110,074,547 (GRCm39) |
I384T |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,593,875 (GRCm39) |
R1413* |
probably null |
Het |
| Plcd3 |
T |
A |
11: 102,964,592 (GRCm39) |
Y593F |
possibly damaging |
Het |
| Plxna1 |
A |
T |
6: 89,310,087 (GRCm39) |
I1026N |
possibly damaging |
Het |
| Podxl |
T |
A |
6: 31,501,329 (GRCm39) |
I409F |
probably damaging |
Het |
| Polq |
A |
C |
16: 36,837,625 (GRCm39) |
Q179P |
probably benign |
Het |
| Pomt1 |
T |
C |
2: 32,137,602 (GRCm39) |
V401A |
probably damaging |
Het |
| Qdpr |
C |
T |
5: 45,596,727 (GRCm39) |
G146S |
probably damaging |
Het |
| Shc4 |
T |
A |
2: 125,512,218 (GRCm39) |
Q2L |
probably damaging |
Het |
| Skint8 |
T |
A |
4: 111,807,387 (GRCm39) |
C358S |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,221,467 (GRCm39) |
E354G |
possibly damaging |
Het |
| Snx30 |
T |
C |
4: 59,868,275 (GRCm39) |
V129A |
probably damaging |
Het |
| Sp110 |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Spag6 |
T |
A |
2: 18,703,613 (GRCm39) |
|
probably benign |
Het |
| Trim28 |
T |
A |
7: 12,763,036 (GRCm39) |
Y450N |
probably benign |
Het |
| Trip11 |
C |
T |
12: 101,851,924 (GRCm39) |
W428* |
probably null |
Het |
| Umodl1 |
T |
A |
17: 31,213,761 (GRCm39) |
V966E |
probably damaging |
Het |
| Utf1 |
A |
G |
7: 139,524,704 (GRCm39) |
|
probably benign |
Het |
| Vmn1r72 |
T |
C |
7: 11,403,776 (GRCm39) |
Y224C |
probably damaging |
Het |
| Whrn |
A |
G |
4: 63,334,825 (GRCm39) |
S748P |
probably damaging |
Het |
| Zbtb41 |
T |
A |
1: 139,359,816 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
T |
C |
8: 109,526,964 (GRCm39) |
F954L |
probably damaging |
Het |
| Zfp456 |
A |
T |
13: 67,514,359 (GRCm39) |
I449K |
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 |
|
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'- CTGGAAGCTGGAACTCACAG -3'
(R):5'- CCTGGCTTCTGCATTCAATG -3'
Sequencing Primer
(F):5'- GCTGGAACTCACAGCCCAG -3'
(R):5'- CATTCAATGCGTCTGAGAGAC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation