Incidental Mutation 'IGL00966:Gtf3c2'
| ID |
27507 |
| 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 # |
IGL00966
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31313350-31337488 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (7 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 31327517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088010]
[ENSMUST00000101411]
[ENSMUST00000200871]
[ENSMUST00000201428]
[ENSMUST00000201468]
[ENSMUST00000202639]
[ENSMUST00000202300]
|
| AlphaFold |
Q8BL74 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043161
|
| SMART Domains |
Protein: ENSMUSP00000047210
Gene: ENSMUSG00000029144
| 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 |
probably benign
Transcript: ENSMUST00000088010
|
| SMART Domains |
Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
| 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 |
probably benign
Transcript: ENSMUST00000101411
|
| SMART Domains |
Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678
| 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 |
probably benign
Transcript: ENSMUST00000201428
|
| SMART Domains |
Protein: ENSMUSP00000144212
Gene: ENSMUSG00000106864
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
159 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201468
|
| SMART Domains |
Protein: ENSMUSP00000144675
Gene: ENSMUSG00000106864
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
159 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202254
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202639
|
| SMART Domains |
Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202218
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202300
|
| SMART Domains |
Protein: ENSMUSP00000144249
Gene: ENSMUSG00000106864
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
A |
G |
9: 104,003,855 (GRCm39) |
E649G |
probably damaging |
Het |
| Adgre1 |
C |
A |
17: 57,726,335 (GRCm39) |
T402K |
probably benign |
Het |
| Agap3 |
A |
G |
5: 24,706,000 (GRCm39) |
|
probably benign |
Het |
| Amy1 |
T |
C |
3: 113,349,689 (GRCm39) |
I494V |
probably benign |
Het |
| Arhgef40 |
G |
A |
14: 52,229,155 (GRCm39) |
|
probably null |
Het |
| Atp2c2 |
T |
C |
8: 120,472,329 (GRCm39) |
V461A |
probably benign |
Het |
| Bub1 |
A |
G |
2: 127,652,583 (GRCm39) |
S595P |
probably damaging |
Het |
| Cdcp3 |
T |
A |
7: 130,844,836 (GRCm39) |
Y692* |
probably null |
Het |
| Cmya5 |
C |
T |
13: 93,234,414 (GRCm39) |
V225I |
probably benign |
Het |
| Cnbd1 |
T |
C |
4: 18,906,988 (GRCm39) |
|
probably benign |
Het |
| Cux1 |
A |
T |
5: 136,340,345 (GRCm39) |
|
probably benign |
Het |
| Dsg3 |
T |
A |
18: 20,656,664 (GRCm39) |
I178N |
probably benign |
Het |
| Dus2 |
T |
A |
8: 106,752,533 (GRCm39) |
|
probably null |
Het |
| Enpp1 |
G |
A |
10: 24,529,929 (GRCm39) |
H570Y |
probably damaging |
Het |
| Ephb3 |
A |
C |
16: 21,036,044 (GRCm39) |
T57P |
probably benign |
Het |
| Fat3 |
C |
A |
9: 15,910,390 (GRCm39) |
V1871F |
possibly damaging |
Het |
| Fbll1 |
T |
C |
11: 35,688,874 (GRCm39) |
T130A |
probably benign |
Het |
| Fbxl20 |
C |
T |
11: 98,001,800 (GRCm39) |
S99N |
probably damaging |
Het |
| Folr2 |
T |
C |
7: 101,489,593 (GRCm39) |
E182G |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,703,080 (GRCm39) |
D281G |
probably benign |
Het |
| Gm17175 |
G |
T |
14: 51,810,526 (GRCm39) |
Q34K |
possibly damaging |
Het |
| Gm5592 |
T |
A |
7: 40,938,519 (GRCm39) |
D600E |
probably damaging |
Het |
| Gtf2e1 |
T |
C |
16: 37,336,092 (GRCm39) |
E294G |
probably benign |
Het |
| Heg1 |
T |
C |
16: 33,530,977 (GRCm39) |
L151P |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,319,006 (GRCm39) |
V3902G |
probably damaging |
Het |
| Ift140 |
A |
G |
17: 25,237,776 (GRCm39) |
Y4C |
probably damaging |
Het |
| Ighv1-19 |
A |
C |
12: 114,672,569 (GRCm39) |
V17G |
possibly damaging |
Het |
| Iqca1 |
T |
A |
1: 89,973,379 (GRCm39) |
I770F |
probably benign |
Het |
| Jak3 |
T |
A |
8: 72,131,656 (GRCm39) |
C115S |
probably benign |
Het |
| Kif18b |
A |
T |
11: 102,805,501 (GRCm39) |
M252K |
probably damaging |
Het |
| Klhdc7a |
A |
T |
4: 139,694,236 (GRCm39) |
V237D |
probably benign |
Het |
| Klhl11 |
C |
T |
11: 100,354,031 (GRCm39) |
V597I |
possibly damaging |
Het |
| Krt72 |
T |
A |
15: 101,689,396 (GRCm39) |
Y312F |
probably damaging |
Het |
| Lonp2 |
T |
A |
8: 87,360,600 (GRCm39) |
I191N |
probably damaging |
Het |
| Npc2 |
A |
T |
12: 84,819,619 (GRCm39) |
I8N |
possibly damaging |
Het |
| Nr4a1 |
T |
C |
15: 101,170,669 (GRCm39) |
L413P |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,638,645 (GRCm39) |
N895S |
probably damaging |
Het |
| Or7e175 |
T |
C |
9: 20,048,531 (GRCm39) |
F40L |
probably benign |
Het |
| Ppef1 |
A |
G |
X: 159,468,290 (GRCm39) |
I94T |
probably benign |
Het |
| Prrt4 |
G |
A |
6: 29,176,455 (GRCm39) |
T290I |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,499,927 (GRCm39) |
V1239E |
probably damaging |
Het |
| Rab8b |
T |
G |
9: 66,760,274 (GRCm39) |
M117L |
probably benign |
Het |
| S1pr5 |
T |
A |
9: 21,155,512 (GRCm39) |
I305F |
possibly damaging |
Het |
| Sdr39u1 |
A |
G |
14: 56,135,463 (GRCm39) |
V160A |
probably damaging |
Het |
| Slc6a21 |
C |
T |
7: 44,937,668 (GRCm39) |
T653M |
probably benign |
Het |
| Stk39 |
T |
A |
2: 68,042,302 (GRCm39) |
E544D |
probably benign |
Het |
| Tgfbr3 |
T |
C |
5: 107,290,367 (GRCm39) |
T313A |
probably benign |
Het |
| Tle6 |
A |
T |
10: 81,430,292 (GRCm39) |
L287M |
probably damaging |
Het |
| Tmc2 |
A |
G |
2: 130,105,932 (GRCm39) |
H821R |
probably benign |
Het |
| Tmem230 |
G |
T |
2: 132,087,897 (GRCm39) |
D26E |
probably benign |
Het |
| Tnfaip3 |
A |
G |
10: 18,880,885 (GRCm39) |
F394S |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,641,721 (GRCm39) |
L13458F |
probably damaging |
Het |
| Vwa5a |
A |
T |
9: 38,634,675 (GRCm39) |
N161I |
probably benign |
Het |
| Wdr87-ps |
C |
A |
7: 29,236,888 (GRCm39) |
|
noncoding transcript |
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 |
|
IGL01061:Gtf3c2
|
APN |
5 |
31,325,698 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
2013-04-17 |
Incidental Mutation