Incidental Mutation 'IGL01061:Gtf3c2'
| ID |
51009 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gtf3c2
|
| Ensembl Gene |
ENSMUSG00000106864 |
| Gene Name |
general transcription factor IIIC, polypeptide 2, beta |
| Synonyms |
2610510G03Rik, 1300004C11Rik, TFIIIC110, TFIIIC-BETA |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.578)
|
| Stock # |
IGL01061
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31313350-31337488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31325698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 414
(F414L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088010]
[ENSMUST00000101411]
[ENSMUST00000200871]
[ENSMUST00000202639]
|
| AlphaFold |
Q8BL74 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043161
AA Change: F457L
PolyPhen 2
Score 0.910 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047210
Gene: ENSMUSG00000029144
AA Change: F457L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
488 |
N/A |
INTRINSIC |
|
WD40
|
495 |
551 |
6.39e0 |
SMART |
|
WD40
|
573 |
623 |
1.6e0 |
SMART |
|
WD40
|
641 |
681 |
3.37e-6 |
SMART |
|
WD40
|
864 |
904 |
5.33e0 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088010
AA Change: F414L
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: F414L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
445 |
N/A |
INTRINSIC |
|
WD40
|
452 |
508 |
6.39e0 |
SMART |
|
WD40
|
530 |
580 |
1.6e0 |
SMART |
|
WD40
|
598 |
638 |
3.37e-6 |
SMART |
|
WD40
|
821 |
861 |
5.33e0 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101411
AA Change: F414L
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678
AA Change: F414L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
249 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
445 |
N/A |
INTRINSIC |
|
WD40
|
452 |
508 |
6.39e0 |
SMART |
|
WD40
|
530 |
580 |
1.6e0 |
SMART |
|
WD40
|
598 |
638 |
3.37e-6 |
SMART |
|
Blast:WD40
|
807 |
844 |
2e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200871
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201087
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202254
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202639
AA Change: F457L
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: F457L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
250 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
311 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
488 |
N/A |
INTRINSIC |
|
WD40
|
495 |
551 |
6.39e0 |
SMART |
|
WD40
|
573 |
623 |
1.6e0 |
SMART |
|
WD40
|
641 |
681 |
3.37e-6 |
SMART |
|
WD40
|
864 |
904 |
5.33e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202843
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aen |
G |
A |
7: 78,557,050 (GRCm39) |
M299I |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,619,686 (GRCm39) |
C186* |
probably null |
Het |
| Ankmy1 |
A |
T |
1: 92,798,696 (GRCm39) |
|
probably benign |
Het |
| B3gnt2 |
T |
A |
11: 22,786,042 (GRCm39) |
E382V |
probably damaging |
Het |
| Carmil3 |
T |
G |
14: 55,736,087 (GRCm39) |
S610A |
possibly damaging |
Het |
| Cfap70 |
T |
C |
14: 20,497,693 (GRCm39) |
|
probably benign |
Het |
| Chek1 |
G |
A |
9: 36,625,815 (GRCm39) |
R277C |
possibly damaging |
Het |
| Cpb1 |
T |
A |
3: 20,320,680 (GRCm39) |
I92L |
probably benign |
Het |
| Ddx56 |
C |
T |
11: 6,214,671 (GRCm39) |
|
probably null |
Het |
| Dicer1 |
A |
T |
12: 104,672,586 (GRCm39) |
M887K |
probably null |
Het |
| Dnajc18 |
A |
G |
18: 35,813,995 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,596,653 (GRCm39) |
V401A |
probably damaging |
Het |
| Dock4 |
A |
C |
12: 40,752,968 (GRCm39) |
N434T |
probably benign |
Het |
| Dync2i1 |
C |
A |
12: 116,193,324 (GRCm39) |
A543S |
probably benign |
Het |
| Ehbp1l1 |
A |
T |
19: 5,767,916 (GRCm39) |
M1129K |
probably benign |
Het |
| Fam83a |
A |
T |
15: 57,849,771 (GRCm39) |
Y105F |
possibly damaging |
Het |
| Fnbp1 |
C |
A |
2: 30,973,054 (GRCm39) |
D70Y |
probably damaging |
Het |
| Kndc1 |
A |
T |
7: 139,502,610 (GRCm39) |
E965D |
probably benign |
Het |
| Lrrc66 |
T |
C |
5: 73,772,842 (GRCm39) |
K209E |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,884,720 (GRCm39) |
I261N |
possibly damaging |
Het |
| Mier3 |
T |
A |
13: 111,850,970 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,234,720 (GRCm39) |
E669G |
probably damaging |
Het |
| Myh1 |
T |
A |
11: 67,108,688 (GRCm39) |
M1368K |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,378,368 (GRCm39) |
I1653T |
probably damaging |
Het |
| Nuak1 |
C |
A |
10: 84,210,998 (GRCm39) |
L363F |
probably damaging |
Het |
| Or14j2 |
A |
G |
17: 37,885,795 (GRCm39) |
I173T |
possibly damaging |
Het |
| Or52b1 |
A |
G |
7: 104,978,589 (GRCm39) |
I270T |
possibly damaging |
Het |
| Or9i1 |
T |
C |
19: 13,840,069 (GRCm39) |
V304A |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,365,338 (GRCm39) |
H1153R |
probably damaging |
Het |
| Poglut3 |
A |
G |
9: 53,299,887 (GRCm39) |
|
probably benign |
Het |
| Ppp6r2 |
A |
T |
15: 89,170,218 (GRCm39) |
|
probably benign |
Het |
| Prelid3b |
T |
C |
2: 174,307,614 (GRCm39) |
|
probably null |
Het |
| Prrt3 |
T |
C |
6: 113,474,731 (GRCm39) |
K164E |
possibly damaging |
Het |
| Rab22a |
T |
A |
2: 173,530,003 (GRCm39) |
D60E |
probably damaging |
Het |
| Rab32 |
A |
G |
10: 10,433,618 (GRCm39) |
L72P |
probably damaging |
Het |
| Samm50 |
A |
G |
15: 84,086,455 (GRCm39) |
T225A |
probably benign |
Het |
| Snx27 |
T |
A |
3: 94,436,287 (GRCm39) |
|
probably benign |
Het |
| Taf7 |
G |
A |
18: 37,776,486 (GRCm39) |
T27M |
probably damaging |
Het |
| Tgm5 |
A |
T |
2: 120,901,977 (GRCm39) |
C231S |
probably benign |
Het |
| Tll1 |
A |
G |
8: 64,491,488 (GRCm39) |
|
probably null |
Het |
| Tmem150a |
A |
G |
6: 72,334,101 (GRCm39) |
D61G |
probably damaging |
Het |
| Ttll8 |
G |
A |
15: 88,801,453 (GRCm39) |
R412C |
possibly damaging |
Het |
| Ubr3 |
T |
A |
2: 69,813,569 (GRCm39) |
D1293E |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,606,566 (GRCm39) |
N1669D |
probably benign |
Het |
| Vmn2r28 |
A |
G |
7: 5,491,183 (GRCm39) |
W355R |
probably damaging |
Het |
| Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
| Zfhx2 |
T |
A |
14: 55,311,339 (GRCm39) |
N452Y |
possibly damaging |
Het |
| Zfp180 |
T |
G |
7: 23,804,170 (GRCm39) |
D196E |
possibly damaging |
Het |
|
| Other mutations in Gtf3c2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00725:Gtf3c2
|
APN |
5 |
31,331,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00832:Gtf3c2
|
APN |
5 |
31,330,349 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00904:Gtf3c2
|
APN |
5 |
31,330,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00966:Gtf3c2
|
APN |
5 |
31,327,517 (GRCm39) |
critical splice donor site |
probably benign |
0.00 |
|
IGL01148:Gtf3c2
|
APN |
5 |
31,317,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01767:Gtf3c2
|
APN |
5 |
31,314,979 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02237:Gtf3c2
|
APN |
5 |
31,316,397 (GRCm39) |
splice site |
probably benign |
|
|
IGL02458:Gtf3c2
|
APN |
5 |
31,316,867 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02888:Gtf3c2
|
APN |
5 |
31,331,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03035:Gtf3c2
|
APN |
5 |
31,323,358 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL03131:Gtf3c2
|
APN |
5 |
31,314,964 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0534:Gtf3c2
|
UTSW |
5 |
31,315,476 (GRCm39) |
splice site |
probably benign |
|
|
R0581:Gtf3c2
|
UTSW |
5 |
31,316,862 (GRCm39) |
nonsense |
probably null |
|
|
R0634:Gtf3c2
|
UTSW |
5 |
31,317,150 (GRCm39) |
nonsense |
probably null |
|
|
R1172:Gtf3c2
|
UTSW |
5 |
31,325,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Gtf3c2
|
UTSW |
5 |
31,316,446 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1680:Gtf3c2
|
UTSW |
5 |
31,331,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1726:Gtf3c2
|
UTSW |
5 |
31,326,467 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1831:Gtf3c2
|
UTSW |
5 |
31,325,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Gtf3c2
|
UTSW |
5 |
31,325,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2437:Gtf3c2
|
UTSW |
5 |
31,317,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4732:Gtf3c2
|
UTSW |
5 |
31,317,401 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4733:Gtf3c2
|
UTSW |
5 |
31,317,401 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4787:Gtf3c2
|
UTSW |
5 |
31,314,921 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4817:Gtf3c2
|
UTSW |
5 |
31,331,434 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4863:Gtf3c2
|
UTSW |
5 |
31,316,577 (GRCm39) |
intron |
probably benign |
|
|
R4926:Gtf3c2
|
UTSW |
5 |
31,326,467 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5508:Gtf3c2
|
UTSW |
5 |
31,331,805 (GRCm39) |
nonsense |
probably null |
|
|
R5704:Gtf3c2
|
UTSW |
5 |
31,316,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5737:Gtf3c2
|
UTSW |
5 |
31,325,593 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5868:Gtf3c2
|
UTSW |
5 |
31,325,425 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6174:Gtf3c2
|
UTSW |
5 |
31,315,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6705:Gtf3c2
|
UTSW |
5 |
31,323,352 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6782:Gtf3c2
|
UTSW |
5 |
31,327,180 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6893:Gtf3c2
|
UTSW |
5 |
31,323,722 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7363:Gtf3c2
|
UTSW |
5 |
31,327,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7474:Gtf3c2
|
UTSW |
5 |
31,325,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7578:Gtf3c2
|
UTSW |
5 |
31,330,341 (GRCm39) |
missense |
probably benign |
|
|
R7685:Gtf3c2
|
UTSW |
5 |
31,325,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7711:Gtf3c2
|
UTSW |
5 |
31,327,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7754:Gtf3c2
|
UTSW |
5 |
31,330,175 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7825:Gtf3c2
|
UTSW |
5 |
31,315,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7994:Gtf3c2
|
UTSW |
5 |
31,327,217 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R8430:Gtf3c2
|
UTSW |
5 |
31,330,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8772:Gtf3c2
|
UTSW |
5 |
31,331,758 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8950:Gtf3c2
|
UTSW |
5 |
31,331,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9221:Gtf3c2
|
UTSW |
5 |
31,326,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9451:Gtf3c2
|
UTSW |
5 |
31,325,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation