Incidental Mutation 'R5138:Gtf3c1'
| ID |
396286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf3c1
|
| Ensembl Gene |
ENSMUSG00000032777 |
| Gene Name |
general transcription factor III C 1 |
| Synonyms |
|
| MMRRC Submission |
042724-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5138 (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 125246664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 1548
(N1548K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055506]
[ENSMUST00000205659]
[ENSMUST00000206183]
|
| AlphaFold |
Q8K284 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055506
AA Change: N1548K
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: N1548K
| 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: ENSMUST00000205659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206042
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206183
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
97% (76/78) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
C |
A |
9: 46,218,119 (GRCm39) |
|
probably null |
Het |
| Actr10 |
G |
A |
12: 71,008,653 (GRCm39) |
G362E |
probably damaging |
Het |
| Aldh1a3 |
T |
C |
7: 66,057,600 (GRCm39) |
T278A |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 112,008,152 (GRCm39) |
K116M |
probably damaging |
Het |
| Arrdc3 |
T |
C |
13: 81,039,184 (GRCm39) |
Y72H |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,819,649 (GRCm39) |
V2212A |
probably benign |
Het |
| Bcdin3d |
A |
G |
15: 99,368,932 (GRCm39) |
F89S |
possibly damaging |
Het |
| Cacna1d |
C |
A |
14: 30,212,929 (GRCm39) |
A44S |
probably benign |
Het |
| Cbx3 |
A |
G |
6: 51,452,269 (GRCm39) |
E28G |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,148,061 (GRCm39) |
F2722L |
probably damaging |
Het |
| Clec11a |
A |
G |
7: 43,954,062 (GRCm39) |
V297A |
probably benign |
Het |
| Clk2 |
C |
A |
3: 89,082,806 (GRCm39) |
|
probably benign |
Het |
| Clybl |
T |
A |
14: 122,608,716 (GRCm39) |
C103S |
possibly damaging |
Het |
| Col12a1 |
T |
A |
9: 79,551,248 (GRCm39) |
N2123Y |
probably damaging |
Het |
| Corin |
G |
A |
5: 72,496,402 (GRCm39) |
P517L |
probably damaging |
Het |
| Ddhd2 |
A |
T |
8: 26,217,726 (GRCm39) |
I717N |
probably damaging |
Het |
| Derl2 |
C |
A |
11: 70,905,390 (GRCm39) |
G31* |
probably null |
Het |
| Dgcr8 |
A |
G |
16: 18,095,941 (GRCm39) |
V523A |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,984,571 (GRCm39) |
S3090P |
probably damaging |
Het |
| Dsp |
C |
A |
13: 38,367,274 (GRCm39) |
H641N |
probably benign |
Het |
| Dsp |
A |
T |
13: 38,379,821 (GRCm39) |
T1590S |
possibly damaging |
Het |
| Duox2 |
A |
T |
2: 122,128,012 (GRCm39) |
L57Q |
probably damaging |
Het |
| Etfdh |
A |
T |
3: 79,530,880 (GRCm39) |
V47D |
probably benign |
Het |
| Exoc1 |
T |
C |
5: 76,715,922 (GRCm39) |
Y823H |
probably damaging |
Het |
| Fam81a |
C |
T |
9: 70,006,457 (GRCm39) |
R185K |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,811,768 (GRCm39) |
I2696V |
probably benign |
Het |
| Glis1 |
GCACACA |
GCACA |
4: 107,480,302 (GRCm39) |
|
probably null |
Het |
| H3c2 |
G |
A |
13: 23,936,613 (GRCm39) |
R84H |
probably damaging |
Het |
| Hkdc1 |
A |
T |
10: 62,234,470 (GRCm39) |
I575N |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,518,239 (GRCm39) |
I449V |
probably null |
Het |
| Ino80 |
T |
C |
2: 119,213,902 (GRCm39) |
T1223A |
probably damaging |
Het |
| Kctd9 |
T |
C |
14: 67,966,197 (GRCm39) |
|
probably null |
Het |
| Khdrbs1 |
A |
G |
4: 129,635,647 (GRCm39) |
Y103H |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,707,693 (GRCm39) |
H1752R |
probably damaging |
Het |
| Lrp5 |
T |
A |
19: 3,678,319 (GRCm39) |
Q512L |
probably benign |
Het |
| Map2k5 |
T |
C |
9: 63,170,440 (GRCm39) |
T293A |
probably damaging |
Het |
| Myo7a |
C |
A |
7: 97,732,806 (GRCm39) |
R657L |
probably damaging |
Het |
| Myrfl |
A |
G |
10: 116,631,963 (GRCm39) |
|
probably null |
Het |
| Nfatc2 |
G |
A |
2: 168,378,229 (GRCm39) |
H258Y |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,202,801 (GRCm39) |
L1336Q |
probably damaging |
Het |
| Or10z1 |
A |
G |
1: 174,078,395 (GRCm39) |
S33P |
probably damaging |
Het |
| Or4c113 |
T |
C |
2: 88,885,291 (GRCm39) |
I160V |
probably benign |
Het |
| Or5an10 |
T |
C |
19: 12,276,140 (GRCm39) |
M119V |
possibly damaging |
Het |
| Otog |
T |
A |
7: 45,899,430 (GRCm39) |
S244T |
possibly damaging |
Het |
| Pcdh17 |
T |
G |
14: 84,684,649 (GRCm39) |
I372S |
probably damaging |
Het |
| Pira13 |
A |
T |
7: 3,827,556 (GRCm39) |
Y200* |
probably null |
Het |
| Plagl1 |
A |
G |
10: 13,003,919 (GRCm39) |
|
probably benign |
Het |
| Pnpla7 |
T |
C |
2: 24,931,115 (GRCm39) |
F910S |
possibly damaging |
Het |
| Prdm13 |
G |
A |
4: 21,679,507 (GRCm39) |
P328S |
unknown |
Het |
| Prdm5 |
C |
T |
6: 65,833,086 (GRCm39) |
Q152* |
probably null |
Het |
| Psat1 |
A |
G |
19: 15,892,312 (GRCm39) |
F216S |
possibly damaging |
Het |
| Psg21 |
A |
T |
7: 18,390,453 (GRCm39) |
M1K |
probably null |
Het |
| Rab11fip3 |
A |
T |
17: 26,210,000 (GRCm39) |
S994T |
probably benign |
Het |
| Rax |
A |
G |
18: 66,071,389 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
A |
T |
15: 36,099,934 (GRCm39) |
S260R |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,675,175 (GRCm39) |
H3317Q |
probably damaging |
Het |
| Sc5d |
A |
G |
9: 42,166,811 (GRCm39) |
Y243H |
probably damaging |
Het |
| Serpinf1 |
T |
C |
11: 75,305,854 (GRCm39) |
E178G |
probably damaging |
Het |
| Slc15a3 |
A |
T |
19: 10,833,369 (GRCm39) |
Y462F |
probably damaging |
Het |
| Slc9b1 |
G |
A |
3: 135,063,534 (GRCm39) |
|
probably benign |
Het |
| Slit2 |
C |
T |
5: 48,439,309 (GRCm39) |
P1111S |
probably damaging |
Het |
| Slit3 |
T |
C |
11: 35,479,812 (GRCm39) |
Y330H |
probably damaging |
Het |
| Snw1 |
T |
C |
12: 87,507,205 (GRCm39) |
K204E |
probably benign |
Het |
| Steap1 |
A |
G |
5: 5,786,486 (GRCm39) |
I317T |
probably damaging |
Het |
| Sval2 |
A |
G |
6: 41,838,879 (GRCm39) |
N20S |
probably damaging |
Het |
| Tfrc |
C |
A |
16: 32,434,027 (GRCm39) |
Y85* |
probably null |
Het |
| Tmem87a |
T |
C |
2: 120,202,026 (GRCm39) |
T412A |
possibly damaging |
Het |
| Utp20 |
T |
C |
10: 88,583,239 (GRCm39) |
K2705E |
probably damaging |
Het |
| Vmn1r230 |
A |
T |
17: 21,067,230 (GRCm39) |
K140* |
probably null |
Het |
| Vmn2r62 |
A |
T |
7: 42,414,240 (GRCm39) |
H734Q |
possibly damaging |
Het |
| Zbtb8os |
T |
A |
4: 129,240,719 (GRCm39) |
|
probably benign |
Het |
| Zfp608 |
A |
T |
18: 55,024,871 (GRCm39) |
H1466Q |
probably damaging |
Het |
| Zfp957 |
C |
T |
14: 79,450,362 (GRCm39) |
C479Y |
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 |
|
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'- GCCTCAAGAACCCATGTGTTTC -3'
(R):5'- AACAGCAGCTCTTCAGTGGC -3'
Sequencing Primer
(F):5'- TTTCCAAACTGTGAGCAGAGCTG -3'
(R):5'- AGCTCTTCAGTGGCGCCTC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation