Incidental Mutation 'R5610:Gtf3c1'
ID |
440303 |
Institutional Source |
Beutler Lab
|
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 # |
R5610 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
125240126-125306860 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 125303117 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 106
(N106S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055506]
[ENSMUST00000069660]
[ENSMUST00000124223]
[ENSMUST00000148701]
[ENSMUST00000205444]
[ENSMUST00000205659]
[ENSMUST00000206127]
|
AlphaFold |
Q8K284 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055506
AA Change: N106S
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000056719 Gene: ENSMUSG00000032777 AA Change: N106S
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 |
noncoding transcript
Transcript: ENSMUST00000205347
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205444
AA Change: N106S
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205659
AA Change: N106S
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206127
AA Change: N5S
PolyPhen 2
Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205697
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205723
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
A |
G |
5: 144,982,156 (GRCm39) |
D247G |
possibly damaging |
Het |
1700123K08Rik |
A |
G |
5: 138,562,403 (GRCm39) |
|
probably null |
Het |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Accsl |
C |
A |
2: 93,692,118 (GRCm39) |
|
probably null |
Het |
Adad2 |
C |
T |
8: 120,341,500 (GRCm39) |
R171C |
probably benign |
Het |
Adgrv1 |
A |
C |
13: 81,669,236 (GRCm39) |
L2440R |
probably damaging |
Het |
Antxr1 |
A |
G |
6: 87,232,845 (GRCm39) |
V239A |
probably damaging |
Het |
Aoc1l2 |
G |
A |
6: 48,907,953 (GRCm39) |
V318I |
probably benign |
Het |
Arhgap28 |
G |
A |
17: 68,203,235 (GRCm39) |
Q73* |
probably null |
Het |
Arrdc5 |
C |
T |
17: 56,604,846 (GRCm39) |
R147H |
probably benign |
Het |
Ash1l |
T |
C |
3: 88,930,492 (GRCm39) |
Y1990H |
probably damaging |
Het |
Bank1 |
T |
C |
3: 135,772,148 (GRCm39) |
E494G |
probably damaging |
Het |
Bicral |
A |
T |
17: 47,119,418 (GRCm39) |
I701N |
probably damaging |
Het |
Bod1l |
T |
C |
5: 41,979,217 (GRCm39) |
Y699C |
probably damaging |
Het |
C3ar1 |
T |
G |
6: 122,827,537 (GRCm39) |
T227P |
probably benign |
Het |
Ccr3 |
C |
A |
9: 123,829,518 (GRCm39) |
D284E |
probably damaging |
Het |
Cdh13 |
T |
C |
8: 119,578,462 (GRCm39) |
V163A |
possibly damaging |
Het |
CK137956 |
C |
T |
4: 127,840,440 (GRCm39) |
|
probably null |
Het |
Cltc |
T |
C |
11: 86,612,472 (GRCm39) |
S529G |
probably benign |
Het |
Cplane2 |
C |
T |
4: 140,947,177 (GRCm39) |
P186L |
probably benign |
Het |
Ddx11 |
A |
G |
17: 66,457,021 (GRCm39) |
K783E |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,538,288 (GRCm39) |
|
probably null |
Het |
Eef2k |
A |
G |
7: 120,486,005 (GRCm39) |
H408R |
probably benign |
Het |
Esr1 |
A |
G |
10: 4,951,221 (GRCm39) |
K533R |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,406,109 (GRCm39) |
Y953* |
probably null |
Het |
Fosl1 |
T |
A |
19: 5,505,133 (GRCm39) |
|
probably null |
Het |
Frmd4b |
A |
G |
6: 97,283,752 (GRCm39) |
M373T |
probably benign |
Het |
Gm1968 |
A |
G |
16: 29,777,557 (GRCm39) |
|
noncoding transcript |
Het |
Gpr26 |
T |
C |
7: 131,568,694 (GRCm39) |
V13A |
possibly damaging |
Het |
Itgb8 |
T |
G |
12: 119,134,429 (GRCm39) |
E546A |
probably damaging |
Het |
Itpr3 |
C |
T |
17: 27,337,540 (GRCm39) |
T2450M |
probably benign |
Het |
Kif1a |
A |
T |
1: 92,953,450 (GRCm39) |
Y1245N |
probably damaging |
Het |
Klrb1f |
G |
A |
6: 129,031,335 (GRCm39) |
|
probably null |
Het |
Lars1 |
A |
G |
18: 42,390,156 (GRCm39) |
L37P |
probably benign |
Het |
Lnpk |
T |
C |
2: 74,378,369 (GRCm39) |
T131A |
probably benign |
Het |
Mob3c |
C |
T |
4: 115,690,878 (GRCm39) |
T156I |
probably benign |
Het |
Nadk |
T |
A |
4: 155,668,628 (GRCm39) |
W100R |
probably damaging |
Het |
Npy6r |
A |
T |
18: 44,409,061 (GRCm39) |
I161F |
probably benign |
Het |
Or4c107 |
A |
C |
2: 88,789,170 (GRCm39) |
D120A |
probably damaging |
Het |
Or6c204 |
G |
A |
10: 129,022,426 (GRCm39) |
T288I |
probably damaging |
Het |
Pcdhga3 |
A |
G |
18: 37,808,276 (GRCm39) |
E243G |
possibly damaging |
Het |
Pdss2 |
A |
G |
10: 43,315,828 (GRCm39) |
T361A |
probably benign |
Het |
Pkd1l2 |
G |
T |
8: 117,769,059 (GRCm39) |
Q1198K |
probably benign |
Het |
Prdx1 |
T |
A |
4: 116,550,124 (GRCm39) |
I102N |
probably damaging |
Het |
Prss1 |
G |
A |
6: 41,438,147 (GRCm39) |
V25I |
probably benign |
Het |
Pspc1 |
A |
G |
14: 57,015,388 (GRCm39) |
Y77H |
probably damaging |
Het |
Rnf5 |
T |
C |
17: 34,820,712 (GRCm39) |
|
probably benign |
Het |
Ryr1 |
C |
A |
7: 28,811,399 (GRCm39) |
M235I |
probably benign |
Het |
Sec24c |
A |
G |
14: 20,741,893 (GRCm39) |
Y776C |
probably damaging |
Het |
Sharpin |
A |
G |
15: 76,234,253 (GRCm39) |
|
probably null |
Het |
Slc12a4 |
C |
A |
8: 106,676,845 (GRCm39) |
V482L |
possibly damaging |
Het |
Slc38a1 |
C |
T |
15: 96,514,022 (GRCm39) |
|
probably null |
Het |
Smtn |
G |
T |
11: 3,479,582 (GRCm39) |
T495N |
probably damaging |
Het |
Sncaip |
A |
G |
18: 53,001,991 (GRCm39) |
T171A |
probably benign |
Het |
Sprr2e |
T |
C |
3: 92,260,399 (GRCm39) |
*77R |
probably null |
Het |
Syngap1 |
T |
A |
17: 27,178,754 (GRCm39) |
D443E |
possibly damaging |
Het |
Taldo1 |
T |
C |
7: 140,972,205 (GRCm39) |
V24A |
probably damaging |
Het |
Tfap2c |
T |
A |
2: 172,391,778 (GRCm39) |
N8K |
probably benign |
Het |
Tmem229a |
T |
C |
6: 24,955,580 (GRCm39) |
Y58C |
probably damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,689,577 (GRCm39) |
Y563C |
probably damaging |
Het |
Ubr1 |
T |
A |
2: 120,722,593 (GRCm39) |
D1342V |
probably benign |
Het |
Usp7 |
C |
T |
16: 8,534,374 (GRCm39) |
|
probably null |
Het |
Wbp1 |
C |
T |
6: 83,097,216 (GRCm39) |
G75D |
probably damaging |
Het |
Zfp180 |
G |
T |
7: 23,804,315 (GRCm39) |
V245F |
probably benign |
Het |
Zfp414 |
C |
T |
17: 33,849,012 (GRCm39) |
T33I |
probably damaging |
Het |
Zfp646 |
T |
A |
7: 127,478,530 (GRCm39) |
C236S |
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 |
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'- GAGTCAGATCTCCAGGAAGCAG -3'
(R):5'- ACTGAGTAACCTTCCCTGGTC -3'
Sequencing Primer
(F):5'- TCTCCAGGAAGCAGAAGTAAAAG -3'
(R):5'- CTCTTTGGAACTTGGCAGAAG -3'
|
Posted On |
2016-11-08 |