Incidental Mutation 'IGL02121:Gtf3c1'
| ID |
280625 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02121
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
125240126-125306860 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 125245903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 1504
(L1504*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055506]
[ENSMUST00000205659]
[ENSMUST00000206183]
|
| AlphaFold |
Q8K284 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055506
AA Change: L1600*
|
| SMART Domains |
Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
AA Change: L1600*
| 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 null
Transcript: ENSMUST00000205659
AA Change: L1504*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206042
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206183
|
| Coding Region Coverage |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029F12Rik |
A |
T |
13: 97,159,038 (GRCm39) |
V122D |
unknown |
Het |
| 4930579F01Rik |
T |
G |
3: 137,870,134 (GRCm39) |
Y199S |
possibly damaging |
Het |
| Abca6 |
T |
A |
11: 110,073,750 (GRCm39) |
I1434F |
probably benign |
Het |
| Acsm1 |
T |
C |
7: 119,257,635 (GRCm39) |
V467A |
possibly damaging |
Het |
| Alg3 |
T |
C |
16: 20,425,285 (GRCm39) |
T260A |
possibly damaging |
Het |
| Aoc1 |
A |
G |
6: 48,883,254 (GRCm39) |
|
probably null |
Het |
| Ap5b1 |
C |
T |
19: 5,620,815 (GRCm39) |
T745I |
possibly damaging |
Het |
| Atp6v1c2 |
T |
G |
12: 17,341,441 (GRCm39) |
K272Q |
possibly damaging |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Cert1 |
T |
G |
13: 96,735,982 (GRCm39) |
Y181D |
probably benign |
Het |
| Clcn7 |
C |
T |
17: 25,372,058 (GRCm39) |
A426V |
possibly damaging |
Het |
| Clec14a |
T |
C |
12: 58,315,223 (GRCm39) |
E133G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,267,738 (GRCm39) |
V2720E |
probably damaging |
Het |
| Efr3a |
C |
T |
15: 65,742,999 (GRCm39) |
|
probably benign |
Het |
| Fam83g |
T |
C |
11: 61,575,609 (GRCm39) |
S84P |
probably benign |
Het |
| Gm7251 |
T |
C |
13: 49,959,382 (GRCm39) |
|
noncoding transcript |
Het |
| Gnptab |
T |
G |
10: 88,265,323 (GRCm39) |
S312A |
possibly damaging |
Het |
| Grap2 |
C |
A |
15: 80,532,076 (GRCm39) |
S230R |
possibly damaging |
Het |
| Grm6 |
T |
A |
11: 50,750,483 (GRCm39) |
C549S |
probably damaging |
Het |
| Iars1 |
A |
G |
13: 49,878,172 (GRCm39) |
M899V |
probably benign |
Het |
| Il1rl1 |
T |
A |
1: 40,481,463 (GRCm39) |
|
probably benign |
Het |
| Kcna4 |
T |
C |
2: 107,126,963 (GRCm39) |
Y566H |
possibly damaging |
Het |
| Kcnn2 |
T |
C |
18: 45,694,340 (GRCm39) |
I175T |
probably damaging |
Het |
| Kcnt1 |
C |
T |
2: 25,791,877 (GRCm39) |
T609I |
probably damaging |
Het |
| Kif3b |
A |
G |
2: 153,159,194 (GRCm39) |
R332G |
probably damaging |
Het |
| Mansc1 |
T |
C |
6: 134,598,800 (GRCm39) |
D39G |
probably damaging |
Het |
| Med12 |
T |
C |
X: 100,331,948 (GRCm39) |
|
probably benign |
Het |
| Mmp1b |
G |
T |
9: 7,384,935 (GRCm39) |
T238K |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,594,897 (GRCm39) |
S1435P |
probably damaging |
Het |
| Npc1l1 |
A |
G |
11: 6,178,157 (GRCm39) |
S418P |
probably benign |
Het |
| Or14j1 |
T |
C |
17: 38,146,832 (GRCm39) |
V314A |
probably benign |
Het |
| Or2ab1 |
T |
C |
11: 58,488,408 (GRCm39) |
V62A |
possibly damaging |
Het |
| Or3a1b |
A |
G |
11: 74,012,113 (GRCm39) |
|
probably benign |
Het |
| Or52a24 |
A |
G |
7: 103,381,676 (GRCm39) |
Y181C |
probably damaging |
Het |
| Or52h1 |
A |
C |
7: 103,829,432 (GRCm39) |
M61R |
probably damaging |
Het |
| Or6ae1 |
G |
T |
7: 139,742,607 (GRCm39) |
D85E |
probably benign |
Het |
| Or8b3b |
T |
C |
9: 38,584,711 (GRCm39) |
T23A |
probably damaging |
Het |
| Otoa |
A |
G |
7: 120,721,247 (GRCm39) |
T421A |
probably benign |
Het |
| Otulin |
G |
A |
15: 27,608,823 (GRCm39) |
A42V |
probably damaging |
Het |
| Pcdhb1 |
T |
A |
18: 37,398,838 (GRCm39) |
V263E |
probably benign |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,178 (GRCm39) |
R351W |
probably damaging |
Het |
| Phip |
A |
T |
9: 82,775,423 (GRCm39) |
V1053D |
probably damaging |
Het |
| Pkd1 |
G |
A |
17: 24,794,901 (GRCm39) |
R2196H |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,409,131 (GRCm39) |
Q1363L |
probably damaging |
Het |
| Pp2d1 |
C |
A |
17: 53,814,949 (GRCm39) |
V592L |
probably damaging |
Het |
| Pramel51 |
T |
C |
12: 88,145,242 (GRCm39) |
D28G |
possibly damaging |
Het |
| Prkdc |
T |
G |
16: 15,535,048 (GRCm39) |
M1649R |
probably benign |
Het |
| Ptk2b |
T |
C |
14: 66,450,931 (GRCm39) |
K12E |
probably benign |
Het |
| Rars2 |
G |
A |
4: 34,657,219 (GRCm39) |
V522I |
probably damaging |
Het |
| Rpgrip1 |
T |
A |
14: 52,384,831 (GRCm39) |
N646K |
possibly damaging |
Het |
| Sars2 |
A |
G |
7: 28,451,950 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
C |
8: 64,384,316 (GRCm39) |
T227A |
possibly damaging |
Het |
| Smc1b |
T |
C |
15: 84,982,186 (GRCm39) |
T703A |
probably benign |
Het |
| Stk32a |
G |
T |
18: 43,446,572 (GRCm39) |
D341Y |
probably benign |
Het |
| Thap11 |
T |
C |
8: 106,582,546 (GRCm39) |
V185A |
possibly damaging |
Het |
| Ttll10 |
C |
A |
4: 156,132,890 (GRCm39) |
V65F |
probably benign |
Het |
| Ube2q1 |
T |
A |
3: 89,687,769 (GRCm39) |
N111K |
possibly damaging |
Het |
| Upf2 |
C |
A |
2: 6,031,134 (GRCm39) |
|
probably benign |
Het |
| Utp25 |
A |
T |
1: 192,800,586 (GRCm39) |
D411E |
probably benign |
Het |
| Vasp |
T |
A |
7: 18,991,637 (GRCm39) |
|
probably benign |
Het |
| Vmn2r104 |
C |
T |
17: 20,262,056 (GRCm39) |
W358* |
probably null |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,046,376 (GRCm39) |
G1826R |
possibly damaging |
Het |
| Wdr7 |
T |
A |
18: 63,910,616 (GRCm39) |
Y669* |
probably null |
Het |
| Wdr72 |
T |
A |
9: 74,189,011 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation