Incidental Mutation 'R5493:Gtf3c1'
ID |
432179 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gtf3c1
|
Ensembl Gene |
ENSMUSG00000032777 |
Gene Name |
general transcription factor III C 1 |
Synonyms |
|
MMRRC Submission |
043054-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5493 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
125240126-125306860 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 125269716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 699
(N699S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145939
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055506]
[ENSMUST00000205444]
[ENSMUST00000205659]
|
AlphaFold |
Q8K284 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055506
AA Change: N699S
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000056719 Gene: ENSMUSG00000032777 AA Change: N699S
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 damaging
Transcript: ENSMUST00000205659
AA Change: N699S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205697
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205827
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206694
|
Meta Mutation Damage Score |
0.0635 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
Validation Efficiency |
99% (80/81) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510009E07Rik |
A |
G |
16: 21,471,993 (GRCm39) |
S236P |
possibly damaging |
Het |
A830018L16Rik |
C |
T |
1: 11,615,431 (GRCm39) |
R135C |
probably damaging |
Het |
Agpat3 |
A |
G |
10: 78,120,069 (GRCm39) |
V155A |
possibly damaging |
Het |
Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
Aloxe3 |
A |
T |
11: 69,019,443 (GRCm39) |
R119* |
probably null |
Het |
Asap1 |
A |
G |
15: 64,002,000 (GRCm39) |
V460A |
possibly damaging |
Het |
Bicral |
C |
A |
17: 47,112,620 (GRCm39) |
R860L |
possibly damaging |
Het |
Cd180 |
T |
A |
13: 102,842,649 (GRCm39) |
I565N |
probably benign |
Het |
Cdk13 |
T |
C |
13: 17,978,147 (GRCm39) |
|
probably benign |
Het |
Cdkn2d |
T |
C |
9: 21,200,303 (GRCm39) |
D156G |
probably benign |
Het |
Clrn1 |
A |
G |
3: 58,753,837 (GRCm39) |
S175P |
probably damaging |
Het |
Coro7 |
A |
G |
16: 4,450,351 (GRCm39) |
L535S |
probably damaging |
Het |
Cse1l |
A |
G |
2: 166,783,110 (GRCm39) |
|
probably benign |
Het |
Cyp2a12 |
T |
C |
7: 26,728,550 (GRCm39) |
L7P |
unknown |
Het |
D130043K22Rik |
A |
G |
13: 25,047,586 (GRCm39) |
Y377C |
probably damaging |
Het |
Dctn1 |
G |
T |
6: 83,159,546 (GRCm39) |
R8L |
possibly damaging |
Het |
Duox2 |
T |
C |
2: 122,111,977 (GRCm39) |
Q1341R |
probably damaging |
Het |
Eif2b3 |
A |
G |
4: 116,943,919 (GRCm39) |
D447G |
possibly damaging |
Het |
Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
Fbxw25 |
T |
C |
9: 109,481,984 (GRCm39) |
Y234C |
probably benign |
Het |
Gcnt2 |
A |
G |
13: 41,107,076 (GRCm39) |
N315S |
possibly damaging |
Het |
Gm20730 |
A |
T |
6: 43,058,746 (GRCm39) |
V22E |
possibly damaging |
Het |
Gm4847 |
T |
A |
1: 166,457,890 (GRCm39) |
I488F |
probably damaging |
Het |
Gmds |
A |
T |
13: 32,124,488 (GRCm39) |
M290K |
probably benign |
Het |
Hk3 |
A |
G |
13: 55,158,984 (GRCm39) |
V479A |
probably damaging |
Het |
Ifnlr1 |
G |
A |
4: 135,432,877 (GRCm39) |
V438M |
probably benign |
Het |
Il12rb1 |
C |
A |
8: 71,262,483 (GRCm39) |
P26T |
probably benign |
Het |
Il4i1 |
G |
T |
7: 44,489,477 (GRCm39) |
R414L |
possibly damaging |
Het |
Ipo4 |
T |
C |
14: 55,868,327 (GRCm39) |
N490S |
probably benign |
Het |
Kcnmb2 |
A |
G |
3: 32,252,291 (GRCm39) |
E164G |
probably damaging |
Het |
Kcns1 |
G |
A |
2: 164,009,899 (GRCm39) |
L287F |
probably benign |
Het |
Kdm1a |
ACC |
AC |
4: 136,284,732 (GRCm39) |
|
probably null |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Knl1 |
T |
A |
2: 118,899,211 (GRCm39) |
I304K |
probably damaging |
Het |
Ksr2 |
G |
T |
5: 117,846,175 (GRCm39) |
V681F |
probably damaging |
Het |
Lypd2 |
T |
C |
15: 74,606,127 (GRCm39) |
T4A |
probably benign |
Het |
Man1a |
A |
G |
10: 53,950,576 (GRCm39) |
V182A |
probably benign |
Het |
Or12j4 |
A |
T |
7: 140,046,720 (GRCm39) |
D202V |
probably damaging |
Het |
Or13e8 |
A |
G |
4: 43,696,225 (GRCm39) |
F316S |
possibly damaging |
Het |
Or2w2 |
A |
T |
13: 21,758,042 (GRCm39) |
C195S |
probably damaging |
Het |
Or51f5 |
A |
T |
7: 102,424,315 (GRCm39) |
R195W |
probably benign |
Het |
Or56b1b |
T |
C |
7: 108,164,774 (GRCm39) |
D76G |
probably benign |
Het |
Pcdha2 |
C |
A |
18: 37,072,562 (GRCm39) |
F64L |
probably damaging |
Het |
Pgap3 |
G |
C |
11: 98,281,540 (GRCm39) |
F168L |
possibly damaging |
Het |
Pip5k1b |
T |
C |
19: 24,416,439 (GRCm39) |
N16S |
probably benign |
Het |
Ppip5k1 |
T |
A |
2: 121,167,253 (GRCm39) |
H41L |
probably damaging |
Het |
Ppp1r9a |
A |
G |
6: 5,159,702 (GRCm39) |
R1080G |
probably damaging |
Het |
Qrich2 |
A |
C |
11: 116,336,774 (GRCm39) |
|
probably null |
Het |
Rbl2 |
C |
T |
8: 91,842,447 (GRCm39) |
P1034L |
probably damaging |
Het |
Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
Rin2 |
A |
G |
2: 145,702,629 (GRCm39) |
S442G |
probably damaging |
Het |
Rtca |
C |
T |
3: 116,293,280 (GRCm39) |
R71Q |
probably benign |
Het |
Serpind1 |
A |
T |
16: 17,157,902 (GRCm39) |
N366I |
probably damaging |
Het |
Shox2 |
C |
G |
3: 66,888,796 (GRCm39) |
G32R |
probably damaging |
Het |
Sp3 |
T |
A |
2: 72,768,466 (GRCm39) |
N766Y |
probably damaging |
Het |
Spag7 |
T |
A |
11: 70,560,059 (GRCm39) |
S17C |
probably null |
Het |
Stk25 |
A |
T |
1: 93,563,031 (GRCm39) |
F7I |
probably benign |
Het |
Tbx15 |
G |
A |
3: 99,259,880 (GRCm39) |
G584S |
probably benign |
Het |
Tenm2 |
T |
C |
11: 36,755,503 (GRCm39) |
D165G |
probably benign |
Het |
Tox2 |
C |
A |
2: 163,046,649 (GRCm39) |
S42* |
probably null |
Het |
Vmn1r39 |
A |
G |
6: 66,781,754 (GRCm39) |
V188A |
probably damaging |
Het |
Zbtb5 |
A |
T |
4: 44,993,941 (GRCm39) |
M481K |
probably benign |
Het |
Zfp26 |
T |
C |
9: 20,355,615 (GRCm39) |
T56A |
possibly damaging |
Het |
Zfp459 |
C |
A |
13: 67,556,498 (GRCm39) |
C195F |
probably damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
Zfp764 |
A |
G |
7: 127,004,105 (GRCm39) |
I342T |
probably benign |
Het |
Zfp942 |
T |
C |
17: 22,151,985 (GRCm39) |
N7D |
probably null |
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 |
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'- GAAGTTCAGAACTGGATCCCC -3'
(R):5'- CCTAAGAGGTTCAGATGCCTGC -3'
Sequencing Primer
(F):5'- GTTCAGAACTGGATCCCCATGTAG -3'
(R):5'- TGCCTGCAGCTGAAACAG -3'
|
Posted On |
2016-10-05 |