Incidental Mutation 'R0426:Gtf3c1'
ID |
38651 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gtf3c1
|
Ensembl Gene |
ENSMUSG00000032777 |
Gene Name |
general transcription factor III C 1 |
Synonyms |
|
MMRRC Submission |
038628-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0426 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
125240126-125306860 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 125262188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 1119
(Y1119*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145939
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055506]
[ENSMUST00000205444]
[ENSMUST00000205659]
|
AlphaFold |
Q8K284 |
Predicted Effect |
probably null
Transcript: ENSMUST00000055506
AA Change: Y1119*
|
SMART Domains |
Protein: ENSMUSP00000056719 Gene: ENSMUSG00000032777 AA Change: Y1119*
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 null
Transcript: ENSMUST00000205659
AA Change: Y1119*
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205697
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205827
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206694
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.9%
|
Validation Efficiency |
96% (86/90) |
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
T |
11: 109,845,853 (GRCm39) |
|
probably benign |
Het |
Acadl |
A |
T |
1: 66,880,805 (GRCm39) |
F320L |
probably damaging |
Het |
Acsbg1 |
T |
C |
9: 54,530,030 (GRCm39) |
D222G |
probably benign |
Het |
Anapc15 |
A |
G |
7: 101,547,240 (GRCm39) |
T39A |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,491,519 (GRCm39) |
V919E |
probably damaging |
Het |
Arhgef12 |
T |
C |
9: 42,882,286 (GRCm39) |
|
probably null |
Het |
Atad5 |
T |
A |
11: 80,003,658 (GRCm39) |
I1091N |
probably benign |
Het |
Atf1 |
A |
T |
15: 100,130,708 (GRCm39) |
H26L |
possibly damaging |
Het |
Atp10a |
T |
C |
7: 58,434,482 (GRCm39) |
M252T |
probably benign |
Het |
Btbd8 |
C |
T |
5: 107,658,239 (GRCm39) |
T1603I |
probably damaging |
Het |
Cd55 |
C |
T |
1: 130,376,109 (GRCm39) |
R347H |
probably benign |
Het |
Cdc27 |
A |
C |
11: 104,403,853 (GRCm39) |
|
probably null |
Het |
Cdh9 |
G |
A |
15: 16,823,540 (GRCm39) |
|
probably null |
Het |
Cdk11b |
T |
C |
4: 155,726,969 (GRCm39) |
|
probably benign |
Het |
Cep70 |
A |
G |
9: 99,179,737 (GRCm39) |
D567G |
probably benign |
Het |
Cep78 |
A |
T |
19: 15,948,334 (GRCm39) |
Y382* |
probably null |
Het |
Cgas |
G |
A |
9: 78,343,020 (GRCm39) |
|
probably benign |
Het |
Col9a2 |
T |
C |
4: 120,901,857 (GRCm39) |
|
probably benign |
Het |
Cyp2d12 |
G |
A |
15: 82,443,164 (GRCm39) |
D409N |
probably benign |
Het |
Ddx39a |
A |
G |
8: 84,448,398 (GRCm39) |
T217A |
probably benign |
Het |
Dennd1b |
T |
A |
1: 139,097,934 (GRCm39) |
D733E |
probably benign |
Het |
Dicer1 |
A |
G |
12: 104,668,801 (GRCm39) |
S1294P |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,542,795 (GRCm39) |
E3539G |
probably benign |
Het |
Dnmbp |
A |
G |
19: 43,840,875 (GRCm39) |
|
probably benign |
Het |
Dysf |
T |
C |
6: 84,126,739 (GRCm39) |
L1332P |
probably damaging |
Het |
F5 |
A |
G |
1: 164,010,409 (GRCm39) |
D380G |
probably damaging |
Het |
Fam171a1 |
T |
C |
2: 3,226,433 (GRCm39) |
V522A |
probably benign |
Het |
Fhip1b |
A |
C |
7: 105,038,680 (GRCm39) |
C186W |
probably damaging |
Het |
Galr2 |
C |
A |
11: 116,172,517 (GRCm39) |
A69D |
probably damaging |
Het |
Grk2 |
T |
C |
19: 4,340,628 (GRCm39) |
|
probably null |
Het |
Hgd |
A |
T |
16: 37,409,047 (GRCm39) |
|
probably benign |
Het |
Ildr2 |
G |
T |
1: 166,136,468 (GRCm39) |
V436L |
probably benign |
Het |
Intu |
G |
A |
3: 40,629,735 (GRCm39) |
C355Y |
probably damaging |
Het |
Irf2bpl |
G |
T |
12: 86,929,870 (GRCm39) |
P268T |
probably benign |
Het |
Jarid2 |
T |
C |
13: 44,994,358 (GRCm39) |
|
probably null |
Het |
Jup |
A |
T |
11: 100,263,227 (GRCm39) |
M716K |
probably benign |
Het |
Kank1 |
G |
A |
19: 25,388,837 (GRCm39) |
V809I |
probably damaging |
Het |
Kdm1b |
T |
A |
13: 47,217,720 (GRCm39) |
|
probably benign |
Het |
Kdm3a |
C |
T |
6: 71,577,739 (GRCm39) |
C687Y |
probably damaging |
Het |
Kdm5d |
T |
A |
Y: 942,437 (GRCm39) |
|
probably benign |
Het |
Kifap3 |
T |
A |
1: 163,693,121 (GRCm39) |
|
probably benign |
Het |
Macf1 |
T |
A |
4: 123,377,453 (GRCm39) |
K1400* |
probably null |
Het |
Majin |
A |
G |
19: 6,262,147 (GRCm39) |
|
probably benign |
Het |
Mctp1 |
A |
G |
13: 77,168,940 (GRCm39) |
I846V |
probably benign |
Het |
Mrgpra2b |
T |
A |
7: 47,113,875 (GRCm39) |
I286F |
possibly damaging |
Het |
Neil3 |
T |
G |
8: 54,062,431 (GRCm39) |
|
probably benign |
Het |
Nox3 |
G |
T |
17: 3,745,838 (GRCm39) |
N23K |
probably damaging |
Het |
Nt5c3 |
T |
C |
6: 56,860,797 (GRCm39) |
K219E |
probably benign |
Het |
Or1e29 |
T |
A |
11: 73,667,263 (GRCm39) |
M297L |
probably benign |
Het |
Or52b4i |
T |
A |
7: 102,191,893 (GRCm39) |
I250N |
probably damaging |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
Or6b13 |
A |
C |
7: 139,782,029 (GRCm39) |
F218C |
possibly damaging |
Het |
Or6d13 |
A |
T |
6: 116,517,446 (GRCm39) |
N11Y |
probably damaging |
Het |
Or8g34 |
T |
C |
9: 39,372,889 (GRCm39) |
L54P |
probably damaging |
Het |
Pacsin2 |
A |
G |
15: 83,263,996 (GRCm39) |
V347A |
possibly damaging |
Het |
Pcdhb7 |
A |
T |
18: 37,475,857 (GRCm39) |
E331V |
probably damaging |
Het |
Pcid2 |
A |
C |
8: 13,131,262 (GRCm39) |
|
probably null |
Het |
Pcsk9 |
T |
C |
4: 106,307,274 (GRCm39) |
D323G |
possibly damaging |
Het |
Pdhb |
T |
C |
14: 8,169,801 (GRCm38) |
E203G |
probably damaging |
Het |
Phlpp2 |
A |
G |
8: 110,655,095 (GRCm39) |
Y630C |
probably benign |
Het |
Pidd1 |
C |
T |
7: 141,019,046 (GRCm39) |
A812T |
probably damaging |
Het |
Plau |
G |
A |
14: 20,892,382 (GRCm39) |
R389H |
probably benign |
Het |
Plekhg6 |
G |
A |
6: 125,341,592 (GRCm39) |
|
probably null |
Het |
Ppox |
T |
C |
1: 171,105,322 (GRCm39) |
Y321C |
probably damaging |
Het |
Pxdn |
A |
G |
12: 30,037,065 (GRCm39) |
N281S |
possibly damaging |
Het |
Pycr3 |
A |
T |
15: 75,790,237 (GRCm39) |
M138K |
probably benign |
Het |
Radil |
T |
C |
5: 142,483,628 (GRCm39) |
Y526C |
probably damaging |
Het |
Ranbp3 |
C |
A |
17: 57,014,169 (GRCm39) |
D233E |
probably benign |
Het |
Rhpn1 |
A |
G |
15: 75,583,721 (GRCm39) |
Q402R |
possibly damaging |
Het |
Sec23b |
T |
A |
2: 144,410,532 (GRCm39) |
|
probably benign |
Het |
Sel1l2 |
A |
T |
2: 140,082,832 (GRCm39) |
L602* |
probably null |
Het |
Sema5b |
G |
A |
16: 35,466,725 (GRCm39) |
G209D |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,073,333 (GRCm39) |
Y1992C |
possibly damaging |
Het |
Syncrip |
T |
A |
9: 88,338,312 (GRCm39) |
|
probably benign |
Het |
Synj1 |
G |
T |
16: 90,764,242 (GRCm39) |
A65E |
probably damaging |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Tecrl |
T |
C |
5: 83,502,610 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
G |
T |
7: 96,427,058 (GRCm39) |
G698C |
probably damaging |
Het |
Tmem209 |
G |
A |
6: 30,491,181 (GRCm39) |
L259F |
probably damaging |
Het |
Tmem247 |
G |
A |
17: 87,225,931 (GRCm39) |
E124K |
possibly damaging |
Het |
Tnks2 |
C |
A |
19: 36,830,221 (GRCm39) |
A218E |
probably damaging |
Het |
Tppp |
T |
A |
13: 74,169,430 (GRCm39) |
F57I |
probably damaging |
Het |
Trim36 |
A |
G |
18: 46,305,592 (GRCm39) |
W452R |
probably damaging |
Het |
Vars2 |
A |
T |
17: 35,975,476 (GRCm39) |
V262E |
probably damaging |
Het |
Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
Zfp516 |
G |
T |
18: 82,973,897 (GRCm39) |
A32S |
probably benign |
Het |
Zfy2 |
G |
T |
Y: 2,107,348 (GRCm39) |
L429I |
possibly 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 |
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'- GCGCCATCAGACTTTCTGTATGCC -3'
(R):5'- AACCACTTGCCAAGCTAGAGCTGC -3'
Sequencing Primer
(F):5'- GGCAGATACTCAAGTGTCCC -3'
(R):5'- AAGCTAGAGCTGCCTGTTCAG -3'
|
Posted On |
2013-05-23 |