Incidental Mutation 'R9156:Gtf3c1'
| ID |
695378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf3c1
|
| Ensembl Gene |
ENSMUSG00000032777 |
| Gene Name |
general transcription factor III C 1 |
| Synonyms |
|
| MMRRC Submission |
068974-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9156 (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 125244949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1695
(L1695P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055506]
[ENSMUST00000205659]
[ENSMUST00000206183]
|
| AlphaFold |
Q8K284 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055506
AA Change: L1695P
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: L1695P
| 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: L1599P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206183
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
G |
6: 121,647,957 (GRCm39) |
L1150V |
probably damaging |
Het |
| AB124611 |
A |
G |
9: 21,455,989 (GRCm39) |
D194G |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,669,302 (GRCm39) |
L2418P |
probably benign |
Het |
| Ap3m1 |
A |
G |
14: 21,090,152 (GRCm39) |
S213P |
probably damaging |
Het |
| Apobec2 |
A |
T |
17: 48,739,531 (GRCm39) |
L36H |
|
Het |
| Arrb1 |
A |
G |
7: 99,237,280 (GRCm39) |
D78G |
|
Het |
| Astn1 |
A |
G |
1: 158,338,555 (GRCm39) |
Q434R |
probably damaging |
Het |
| Cadps |
C |
G |
14: 12,705,676 (GRCm38) |
D240H |
probably damaging |
Het |
| Cfhr4 |
A |
G |
1: 139,660,085 (GRCm39) |
I680T |
probably damaging |
Het |
| Cmya5 |
A |
C |
13: 93,233,878 (GRCm39) |
D403E |
unknown |
Het |
| Crxos |
A |
C |
7: 15,631,436 (GRCm39) |
I45L |
probably benign |
Het |
| Dmxl1 |
C |
G |
18: 50,072,639 (GRCm39) |
N2744K |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,313,687 (GRCm39) |
I4204T |
|
Het |
| Ei24 |
A |
G |
9: 36,697,327 (GRCm39) |
S134P |
probably damaging |
Het |
| Eif2ak3 |
G |
T |
6: 70,860,614 (GRCm39) |
V397F |
probably damaging |
Het |
| Eif4g2 |
T |
C |
7: 110,672,969 (GRCm39) |
I134V |
|
Het |
| Fam186a |
A |
G |
15: 99,841,159 (GRCm39) |
I1695T |
possibly damaging |
Het |
| Gcnt3 |
T |
C |
9: 69,941,939 (GRCm39) |
M210V |
probably damaging |
Het |
| Gpatch8 |
A |
G |
11: 102,370,299 (GRCm39) |
S1080P |
probably benign |
Het |
| Haus3 |
A |
G |
5: 34,324,994 (GRCm39) |
F222L |
probably damaging |
Het |
| Kbtbd8 |
C |
T |
6: 95,099,825 (GRCm39) |
Q445* |
probably null |
Het |
| Kcnc3 |
A |
G |
7: 44,240,592 (GRCm39) |
N95D |
probably damaging |
Het |
| Krt40 |
C |
T |
11: 99,430,693 (GRCm39) |
|
probably null |
Het |
| Lgi1 |
A |
G |
19: 38,289,746 (GRCm39) |
T271A |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Map3k21 |
A |
G |
8: 126,665,463 (GRCm39) |
T551A |
possibly damaging |
Het |
| Muc5ac |
T |
C |
7: 141,363,529 (GRCm39) |
I2280T |
unknown |
Het |
| Mug1 |
C |
A |
6: 121,851,390 (GRCm39) |
D762E |
probably damaging |
Het |
| Myo1e |
A |
T |
9: 70,266,605 (GRCm39) |
N615I |
probably damaging |
Het |
| Or4k36 |
T |
C |
2: 111,145,827 (GRCm39) |
M1T |
probably null |
Het |
| Or51f23 |
T |
C |
7: 102,453,339 (GRCm39) |
L218P |
probably damaging |
Het |
| Pld5 |
T |
C |
1: 175,803,104 (GRCm39) |
E387G |
possibly damaging |
Het |
| Pld5 |
A |
G |
1: 175,902,003 (GRCm39) |
V195A |
probably benign |
Het |
| Rad54l |
T |
C |
4: 115,980,349 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
A |
T |
9: 107,940,227 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,331,574 (GRCm39) |
E2262G |
|
Het |
| Rp1 |
C |
A |
1: 4,234,161 (GRCm39) |
V910L |
unknown |
Het |
| Rpp21 |
A |
T |
17: 36,568,407 (GRCm39) |
C23S |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,588,989 (GRCm39) |
M1306V |
possibly damaging |
Het |
| Scn2b |
C |
T |
9: 45,036,734 (GRCm39) |
L81F |
possibly damaging |
Het |
| Sco2 |
T |
C |
15: 89,256,363 (GRCm39) |
D97G |
probably damaging |
Het |
| Slc25a54 |
T |
C |
3: 109,001,548 (GRCm39) |
V112A |
probably benign |
Het |
| Slc5a11 |
A |
T |
7: 122,864,492 (GRCm39) |
K363* |
probably null |
Het |
| Smg1 |
G |
T |
7: 117,753,884 (GRCm39) |
T2563K |
unknown |
Het |
| Snap47 |
A |
T |
11: 59,319,290 (GRCm39) |
S283T |
probably damaging |
Het |
| Speer4a3 |
CTTT |
C |
5: 26,155,857 (GRCm39) |
|
probably benign |
Het |
| Stat1 |
G |
T |
1: 52,178,388 (GRCm39) |
R274L |
probably damaging |
Het |
| Stoml1 |
A |
G |
9: 58,164,409 (GRCm39) |
T166A |
|
Het |
| Svs5 |
G |
T |
2: 164,079,509 (GRCm39) |
Q133K |
probably benign |
Het |
| Tas2r107 |
T |
A |
6: 131,636,422 (GRCm39) |
H209L |
probably benign |
Het |
| Tmco3 |
T |
A |
8: 13,360,228 (GRCm39) |
V477D |
possibly damaging |
Het |
| Tmem131 |
A |
T |
1: 36,880,767 (GRCm39) |
S168T |
possibly damaging |
Het |
| Tmem41a |
T |
C |
16: 21,755,859 (GRCm39) |
N149S |
probably damaging |
Het |
| Ttll4 |
T |
C |
1: 74,719,225 (GRCm39) |
F359L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,785,162 (GRCm39) |
M784L |
unknown |
Het |
| Ubr1 |
A |
G |
2: 120,703,603 (GRCm39) |
|
probably null |
Het |
| Ubxn2b |
C |
T |
4: 6,214,646 (GRCm39) |
P227S |
probably damaging |
Het |
| Upb1 |
C |
T |
10: 75,265,961 (GRCm39) |
L263F |
probably benign |
Het |
| Usp15 |
T |
A |
10: 122,949,553 (GRCm39) |
T935S |
probably benign |
Het |
| Zscan4-ps3 |
G |
A |
7: 11,347,164 (GRCm39) |
C400Y |
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 |
|
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 |
|
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'- CTCCTTGTCAATCCCGAAGC -3'
(R):5'- GCAGTGTGGTCTACAGTTATATACC -3'
Sequencing Primer
(F):5'- TTGTCAATCCCGAAGCAGTCAG -3'
(R):5'- AGTCTGCCTACTAGAGCCCAGTATG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation