Incidental Mutation 'R0634:Gtf3c1'
| ID |
58149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf3c1
|
| Ensembl Gene |
ENSMUSG00000032777 |
| Gene Name |
general transcription factor III C 1 |
| Synonyms |
|
| MMRRC Submission |
038823-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0634 (G1)
|
| Quality Score |
188 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
125240126-125306860 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 125256649 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055506]
[ENSMUST00000205444]
[ENSMUST00000205659]
[ENSMUST00000206183]
|
| AlphaFold |
Q8K284 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055506
|
| SMART Domains |
Protein: ENSMUSP00000056719
Gene: ENSMUSG00000032777
| 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 benign
Transcript: ENSMUST00000205659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205697
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206183
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206694
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.2%
|
| Validation Efficiency |
98% (62/63) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,264,491 (GRCm39) |
I2958V |
possibly damaging |
Het |
| Adam21 |
C |
A |
12: 81,607,126 (GRCm39) |
W212L |
probably benign |
Het |
| Adcy2 |
A |
C |
13: 68,876,064 (GRCm39) |
H479Q |
possibly damaging |
Het |
| Adcy4 |
T |
C |
14: 56,019,054 (GRCm39) |
R168G |
probably benign |
Het |
| Adrm1b |
C |
T |
3: 92,336,116 (GRCm39) |
W125* |
probably null |
Het |
| Atp13a2 |
T |
C |
4: 140,734,240 (GRCm39) |
|
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,464 (GRCm39) |
E304K |
possibly damaging |
Het |
| Cc2d2a |
A |
C |
5: 43,838,723 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,952,588 (GRCm39) |
L1426P |
probably damaging |
Het |
| Cntn1 |
A |
T |
15: 92,212,444 (GRCm39) |
R869* |
probably null |
Het |
| Creb3l2 |
A |
T |
6: 37,311,283 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
G |
A |
4: 133,802,615 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,276,405 (GRCm39) |
F800I |
probably damaging |
Het |
| Dock6 |
G |
A |
9: 21,752,823 (GRCm39) |
T330I |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,517,200 (GRCm39) |
E311K |
possibly damaging |
Het |
| Fbxo22 |
A |
T |
9: 55,122,244 (GRCm39) |
Q141L |
probably benign |
Het |
| Fer |
C |
T |
17: 64,342,503 (GRCm39) |
T223M |
probably benign |
Het |
| Gtf3c2 |
G |
A |
5: 31,317,150 (GRCm39) |
R684* |
probably null |
Het |
| Hs6st3 |
T |
A |
14: 120,106,474 (GRCm39) |
L294* |
probably null |
Het |
| Ighg2c |
T |
G |
12: 113,251,584 (GRCm39) |
E181A |
unknown |
Het |
| Igkv6-15 |
A |
T |
6: 70,383,763 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
A |
T |
6: 145,120,354 (GRCm39) |
H523L |
probably damaging |
Het |
| Map2k6 |
C |
T |
11: 110,385,169 (GRCm39) |
R178* |
probably null |
Het |
| Meikin |
T |
A |
11: 54,281,309 (GRCm39) |
D126E |
probably benign |
Het |
| Mgst1 |
A |
T |
6: 138,133,329 (GRCm39) |
T37S |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,238,518 (GRCm39) |
V1222M |
probably benign |
Het |
| Myom2 |
C |
A |
8: 15,169,216 (GRCm39) |
|
probably benign |
Het |
| Negr1 |
A |
G |
3: 156,721,903 (GRCm39) |
K159R |
possibly damaging |
Het |
| Nptx1 |
T |
C |
11: 119,434,127 (GRCm39) |
T320A |
possibly damaging |
Het |
| Or12j3 |
A |
T |
7: 139,953,310 (GRCm39) |
V71E |
possibly damaging |
Het |
| Or4p21 |
A |
T |
2: 88,276,961 (GRCm39) |
M107K |
probably benign |
Het |
| Or5p66 |
T |
C |
7: 107,885,503 (GRCm39) |
I277V |
probably benign |
Het |
| Pes1 |
C |
T |
11: 3,927,794 (GRCm39) |
|
probably benign |
Het |
| Pes1 |
T |
G |
11: 3,927,795 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,187,698 (GRCm39) |
Y3537N |
probably damaging |
Het |
| Poteg |
G |
A |
8: 27,963,615 (GRCm39) |
G289R |
probably benign |
Het |
| Pramel29 |
A |
G |
4: 143,935,910 (GRCm39) |
|
probably null |
Het |
| Rassf5 |
T |
C |
1: 131,172,693 (GRCm39) |
R59G |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,223,867 (GRCm39) |
W961R |
probably damaging |
Het |
| Rhot2 |
G |
A |
17: 26,061,002 (GRCm39) |
H168Y |
possibly damaging |
Het |
| Ripk3 |
G |
T |
14: 56,025,848 (GRCm39) |
|
probably benign |
Het |
| Samm50 |
A |
G |
15: 84,098,372 (GRCm39) |
|
silent |
Het |
| Sap30bp |
T |
C |
11: 115,848,229 (GRCm39) |
I117T |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Sipa1l2 |
A |
T |
8: 126,149,363 (GRCm39) |
L1632* |
probably null |
Het |
| Sirt7 |
T |
C |
11: 120,512,955 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,976,934 (GRCm39) |
T216A |
possibly damaging |
Het |
| Sox9 |
A |
G |
11: 112,675,768 (GRCm39) |
Y319C |
probably damaging |
Het |
| Sspn |
G |
A |
6: 145,906,877 (GRCm39) |
A27T |
possibly damaging |
Het |
| Suco |
A |
G |
1: 161,666,373 (GRCm39) |
V509A |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,070,661 (GRCm39) |
C2375Y |
possibly damaging |
Het |
| Trbv21 |
T |
A |
6: 41,179,984 (GRCm39) |
|
probably benign |
Het |
| Uimc1 |
C |
T |
13: 55,208,079 (GRCm39) |
E455K |
possibly damaging |
Het |
| Upk3b |
A |
G |
5: 136,068,930 (GRCm39) |
T100A |
possibly damaging |
Het |
| Usp47 |
A |
G |
7: 111,707,862 (GRCm39) |
N1303D |
probably damaging |
Het |
| Vav1 |
A |
T |
17: 57,610,862 (GRCm39) |
D476V |
probably benign |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,162 (GRCm39) |
V312A |
probably benign |
Het |
| Wdr62 |
A |
G |
7: 29,969,599 (GRCm39) |
V287A |
probably damaging |
Het |
| Zcchc4 |
C |
T |
5: 52,940,550 (GRCm39) |
P40S |
probably benign |
Het |
| Zfp326 |
T |
A |
5: 106,034,069 (GRCm39) |
Y26* |
probably null |
Het |
| Zfp592 |
A |
G |
7: 80,687,819 (GRCm39) |
H915R |
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 |
|
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'- AGACGCATAGTGAACCAGCAGC -3'
(R):5'- GAAACAGGCTCCCAGGATACATTCG -3'
Sequencing Primer
(F):5'- AGCAGCCTTGAGAGCCTTG -3'
(R):5'- AGCTGTCCTGAAAATGGACTCTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation