Incidental Mutation 'R7330:Gtf3c1'
ID |
569178 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gtf3c1
|
Ensembl Gene |
ENSMUSG00000032777 |
Gene Name |
general transcription factor III C 1 |
Synonyms |
|
MMRRC Submission |
045423-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7330 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
125240126-125306860 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 125303055 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 127
(I127V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055506]
[ENSMUST00000069660]
[ENSMUST00000124223]
[ENSMUST00000148701]
[ENSMUST00000205444]
[ENSMUST00000205659]
[ENSMUST00000206127]
|
AlphaFold |
Q8K284 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055506
AA Change: I127V
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000056719 Gene: ENSMUSG00000032777 AA Change: I127V
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: ENSMUST00000069660
|
SMART Domains |
Protein: ENSMUSP00000065744 Gene: ENSMUSG00000032743
Domain | Start | End | E-Value | Type |
internal_repeat_3
|
442 |
586 |
9.64e-5 |
PROSPERO |
internal_repeat_2
|
454 |
607 |
1.91e-6 |
PROSPERO |
low complexity region
|
704 |
718 |
N/A |
INTRINSIC |
Pfam:DUF4457
|
909 |
1099 |
5.1e-43 |
PFAM |
Pfam:DUF4457
|
1205 |
1524 |
8.4e-149 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124223
|
SMART Domains |
Protein: ENSMUSP00000118668 Gene: ENSMUSG00000032743
Domain | Start | End | E-Value | Type |
internal_repeat_3
|
416 |
560 |
8.9e-5 |
PROSPERO |
internal_repeat_2
|
428 |
581 |
1.74e-6 |
PROSPERO |
low complexity region
|
678 |
692 |
N/A |
INTRINSIC |
Pfam:DUF4457
|
882 |
1073 |
1.4e-39 |
PFAM |
Pfam:DUF4457
|
1179 |
1498 |
2.2e-145 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148701
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205444
AA Change: I127V
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205659
AA Change: I127V
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206127
AA Change: I26V
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa1b |
T |
C |
9: 118,977,450 (GRCm39) |
T411A |
possibly damaging |
Het |
Ace |
A |
G |
11: 105,876,887 (GRCm39) |
H1123R |
probably damaging |
Het |
Acot12 |
T |
A |
13: 91,889,651 (GRCm39) |
M1K |
probably null |
Het |
Actr2 |
A |
T |
11: 20,022,544 (GRCm39) |
M309K |
probably damaging |
Het |
Ahsa2 |
G |
T |
11: 23,440,558 (GRCm39) |
T279K |
probably benign |
Het |
Ak8 |
A |
G |
2: 28,702,947 (GRCm39) |
Y437C |
possibly damaging |
Het |
Atp1a3 |
T |
A |
7: 24,700,577 (GRCm39) |
K5* |
probably null |
Het |
Bbs2 |
T |
A |
8: 94,814,033 (GRCm39) |
E195V |
possibly damaging |
Het |
C4b |
T |
A |
17: 34,949,446 (GRCm39) |
Y1505F |
probably damaging |
Het |
Camkk1 |
C |
G |
11: 72,917,873 (GRCm39) |
N147K |
probably damaging |
Het |
Cdh18 |
G |
A |
15: 23,227,036 (GRCm39) |
V166I |
possibly damaging |
Het |
Cep135 |
T |
A |
5: 76,754,592 (GRCm39) |
C356* |
probably null |
Het |
Cilp |
A |
T |
9: 65,187,527 (GRCm39) |
R1207S |
probably benign |
Het |
Clcnkb |
A |
G |
4: 141,137,923 (GRCm39) |
I291T |
possibly damaging |
Het |
Clrn3 |
G |
T |
7: 135,130,198 (GRCm39) |
S12Y |
probably damaging |
Het |
Clstn2 |
G |
T |
9: 97,343,422 (GRCm39) |
A675D |
probably benign |
Het |
Cpvl |
A |
G |
6: 53,951,744 (GRCm39) |
I13T |
probably benign |
Het |
Cyp2c68 |
A |
G |
19: 39,677,634 (GRCm39) |
I452T |
probably damaging |
Het |
Dhh |
A |
G |
15: 98,792,291 (GRCm39) |
V239A |
probably damaging |
Het |
Edar |
T |
G |
10: 58,446,376 (GRCm39) |
H183P |
probably damaging |
Het |
Epha2 |
T |
A |
4: 141,035,764 (GRCm39) |
S67T |
probably benign |
Het |
Gapdh |
A |
G |
6: 125,139,900 (GRCm39) |
L168P |
probably benign |
Het |
Grm4 |
C |
T |
17: 27,653,798 (GRCm39) |
W717* |
probably null |
Het |
Igkv4-72 |
C |
T |
6: 69,204,087 (GRCm39) |
A35T |
probably damaging |
Het |
Il6st |
T |
A |
13: 112,630,185 (GRCm39) |
S344T |
probably benign |
Het |
Ip6k1 |
A |
G |
9: 107,922,452 (GRCm39) |
D168G |
possibly damaging |
Het |
Itpr1 |
G |
A |
6: 108,415,292 (GRCm39) |
R1742H |
probably benign |
Het |
Lat2 |
T |
A |
5: 134,635,641 (GRCm39) |
T58S |
probably damaging |
Het |
Limk2 |
T |
C |
11: 3,296,311 (GRCm39) |
K566E |
probably benign |
Het |
Lonp2 |
C |
A |
8: 87,358,022 (GRCm39) |
T81K |
probably damaging |
Het |
Mdn1 |
C |
A |
4: 32,723,685 (GRCm39) |
N2540K |
probably benign |
Het |
Myt1l |
T |
A |
12: 29,901,553 (GRCm39) |
D769E |
unknown |
Het |
Neb |
C |
T |
2: 52,079,715 (GRCm39) |
V5780M |
possibly damaging |
Het |
Or1j18 |
T |
A |
2: 36,625,057 (GRCm39) |
C241* |
probably null |
Het |
Or5d35 |
C |
A |
2: 87,855,265 (GRCm39) |
H66Q |
possibly damaging |
Het |
Or6c8b |
C |
T |
10: 128,882,333 (GRCm39) |
V200M |
probably damaging |
Het |
Or7g25 |
T |
A |
9: 19,160,567 (GRCm39) |
I43F |
probably benign |
Het |
Pcdhga12 |
T |
C |
18: 37,901,439 (GRCm39) |
V757A |
probably damaging |
Het |
Prpf31 |
A |
G |
7: 3,642,854 (GRCm39) |
T448A |
probably damaging |
Het |
Rbm6 |
A |
T |
9: 107,668,244 (GRCm39) |
M694K |
possibly damaging |
Het |
Ropn1l |
T |
C |
15: 31,451,349 (GRCm39) |
Y45C |
|
Het |
Selenbp1 |
T |
A |
3: 94,847,021 (GRCm39) |
D182E |
probably benign |
Het |
Son |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
16: 91,453,486 (GRCm39) |
|
probably benign |
Het |
Spef1 |
G |
A |
2: 131,014,653 (GRCm39) |
R90W |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,452,396 (GRCm39) |
S2787G |
probably benign |
Het |
Stox2 |
A |
G |
8: 47,645,271 (GRCm39) |
S730P |
possibly damaging |
Het |
Syne1 |
T |
C |
10: 5,078,434 (GRCm39) |
N997S |
probably benign |
Het |
Tipin |
A |
G |
9: 64,195,508 (GRCm39) |
D38G |
probably benign |
Het |
Tshz1 |
T |
A |
18: 84,032,956 (GRCm39) |
K484M |
probably damaging |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Ttll3 |
A |
AAGTAC |
6: 113,376,125 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
T |
2: 76,747,355 (GRCm39) |
V4565I |
probably benign |
Het |
Ubr7 |
A |
G |
12: 102,741,971 (GRCm39) |
I402V |
probably damaging |
Het |
Ucn3 |
A |
T |
13: 3,991,216 (GRCm39) |
N145K |
possibly damaging |
Het |
Utp18 |
A |
T |
11: 93,772,899 (GRCm39) |
|
probably null |
Het |
Utp20 |
GAA |
GA |
10: 88,623,424 (GRCm39) |
|
probably null |
Het |
Vmn1r189 |
A |
G |
13: 22,286,711 (GRCm39) |
I42T |
possibly damaging |
Het |
Vmn2r91 |
T |
C |
17: 18,326,429 (GRCm39) |
M238T |
probably damaging |
Het |
Washc5 |
G |
T |
15: 59,205,516 (GRCm39) |
A1125D |
probably benign |
Het |
Wsb2 |
A |
G |
5: 117,508,827 (GRCm39) |
E87G |
probably damaging |
Het |
Zfat |
G |
A |
15: 68,084,600 (GRCm39) |
P97L |
probably benign |
Het |
Zfp87 |
T |
G |
13: 74,523,153 (GRCm39) |
T22P |
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) |
|
|
|
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'- TCAGGGATTAAGGGCTTGC -3'
(R):5'- GTGCATGTCATTGCTGAAGC -3'
Sequencing Primer
(F):5'- CTTGCTGACTGGGATCTTAAAAG -3'
(R):5'- AAGCGGGGTTGGAGTCTTTAAC -3'
|
Posted On |
2019-09-13 |