Incidental Mutation 'IGL02237:Gtf3c2'
| ID |
285952 |
| 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 # |
IGL02237
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
31313350-31337488 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 31316397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088010]
[ENSMUST00000101411]
[ENSMUST00000154241]
[ENSMUST00000200744]
[ENSMUST00000200833]
[ENSMUST00000200864]
[ENSMUST00000202639]
[ENSMUST00000201491]
[ENSMUST00000201353]
[ENSMUST00000202241]
|
| AlphaFold |
Q8BL74 |
| 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 |
noncoding transcript
Transcript: ENSMUST00000136581
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154241
|
| SMART Domains |
Protein: ENSMUSP00000115292
Gene: ENSMUSG00000107283
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
Pfam:Mpv17_PMP22
|
108 |
175 |
2.2e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200744
|
| SMART Domains |
Protein: ENSMUSP00000143843
Gene: ENSMUSG00000107283
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
Pfam:Mpv17_PMP22
|
103 |
163 |
5.7e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200833
|
| SMART Domains |
Protein: ENSMUSP00000144324
Gene: ENSMUSG00000107283
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
transmembrane domain
|
94 |
116 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200864
|
| SMART Domains |
Protein: ENSMUSP00000144331
Gene: ENSMUSG00000107283
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
Pfam:Mpv17_PMP22
|
109 |
174 |
1.7e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201423
|
| 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: ENSMUST00000202375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201087
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202614
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201491
|
| SMART Domains |
Protein: ENSMUSP00000144593
Gene: ENSMUSG00000107283
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
Pfam:Mpv17_PMP22
|
109 |
155 |
4.6e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201353
|
| SMART Domains |
Protein: ENSMUSP00000144198
Gene: ENSMUSG00000107283
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
Pfam:Mpv17_PMP22
|
109 |
174 |
1.7e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202241
|
| SMART Domains |
Protein: ENSMUSP00000144119
Gene: ENSMUSG00000107283
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
48 |
70 |
N/A |
INTRINSIC |
|
Pfam:Mpv17_PMP22
|
109 |
176 |
4e-26 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
T |
A |
2: 181,135,350 (GRCm39) |
V84E |
probably benign |
Het |
| Adam39 |
A |
T |
8: 41,278,482 (GRCm39) |
E291V |
probably benign |
Het |
| Ak5 |
T |
A |
3: 152,204,980 (GRCm39) |
D372V |
probably benign |
Het |
| Brpf1 |
C |
T |
6: 113,287,336 (GRCm39) |
P188L |
probably damaging |
Het |
| Cacna2d3 |
C |
T |
14: 29,068,954 (GRCm39) |
V258I |
probably benign |
Het |
| Cd14 |
A |
G |
18: 36,858,912 (GRCm39) |
F181S |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cts6 |
A |
T |
13: 61,345,313 (GRCm39) |
D261E |
probably benign |
Het |
| Daam1 |
A |
G |
12: 72,029,495 (GRCm39) |
T897A |
probably benign |
Het |
| Ddx25 |
T |
A |
9: 35,453,365 (GRCm39) |
|
probably benign |
Het |
| Ddx55 |
A |
G |
5: 124,705,958 (GRCm39) |
E461G |
probably damaging |
Het |
| Degs1 |
T |
C |
1: 182,107,253 (GRCm39) |
K2R |
probably damaging |
Het |
| Drc7 |
C |
T |
8: 95,799,507 (GRCm39) |
L561F |
probably damaging |
Het |
| Eif4enif1 |
A |
T |
11: 3,177,876 (GRCm39) |
K423* |
probably null |
Het |
| Epha7 |
A |
G |
4: 28,949,325 (GRCm39) |
|
probably null |
Het |
| Erich5 |
A |
C |
15: 34,471,482 (GRCm39) |
E237A |
probably benign |
Het |
| Ficd |
A |
G |
5: 113,876,373 (GRCm39) |
T183A |
probably damaging |
Het |
| Foxb2 |
T |
C |
19: 16,850,908 (GRCm39) |
M33V |
unknown |
Het |
| Gja8 |
T |
G |
3: 96,827,249 (GRCm39) |
S138R |
probably benign |
Het |
| Gm28042 |
T |
G |
2: 119,870,380 (GRCm39) |
L743V |
possibly damaging |
Het |
| Itga11 |
T |
C |
9: 62,663,057 (GRCm39) |
|
probably null |
Het |
| Kazn |
A |
T |
4: 141,874,410 (GRCm39) |
D315E |
probably benign |
Het |
| Kbtbd2 |
A |
T |
6: 56,756,033 (GRCm39) |
S568T |
possibly damaging |
Het |
| Man1c1 |
A |
C |
4: 134,311,609 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
G |
15: 77,670,854 (GRCm39) |
S463P |
probably benign |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Oog2 |
T |
A |
4: 143,923,016 (GRCm39) |
F427Y |
possibly damaging |
Het |
| Pcmtd1 |
T |
C |
1: 7,233,601 (GRCm39) |
|
probably null |
Het |
| Pcnt |
C |
A |
10: 76,188,818 (GRCm39) |
D2861Y |
probably damaging |
Het |
| Pdzd7 |
C |
T |
19: 45,028,697 (GRCm39) |
A149T |
probably damaging |
Het |
| Pebp4 |
A |
T |
14: 70,297,105 (GRCm39) |
T215S |
possibly damaging |
Het |
| Pgm1 |
T |
C |
4: 99,820,707 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
T |
A |
17: 84,883,213 (GRCm39) |
D760E |
probably benign |
Het |
| Pomt1 |
T |
C |
2: 32,135,689 (GRCm39) |
I351T |
probably benign |
Het |
| Ptpn21 |
C |
T |
12: 98,671,351 (GRCm39) |
|
probably null |
Het |
| Rsad2 |
T |
G |
12: 26,506,186 (GRCm39) |
Y78S |
probably damaging |
Het |
| Rsbn1l |
A |
T |
5: 21,124,604 (GRCm39) |
N399K |
probably benign |
Het |
| Sec31a |
A |
G |
5: 100,509,914 (GRCm39) |
V1191A |
probably damaging |
Het |
| Sema6c |
C |
T |
3: 95,077,430 (GRCm39) |
P414L |
probably damaging |
Het |
| Serpinb5 |
T |
C |
1: 106,808,056 (GRCm39) |
S69P |
probably benign |
Het |
| Slc25a13 |
C |
T |
6: 6,042,646 (GRCm39) |
R586H |
probably damaging |
Het |
| Spink5 |
T |
A |
18: 44,145,934 (GRCm39) |
M776K |
probably benign |
Het |
| Srcap |
A |
G |
7: 127,133,864 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
G |
A |
9: 36,660,933 (GRCm39) |
Q293* |
probably null |
Het |
| Syne4 |
T |
A |
7: 30,015,988 (GRCm39) |
|
probably null |
Het |
| Tomm40l |
C |
T |
1: 171,048,463 (GRCm39) |
V97M |
possibly damaging |
Het |
| Trpc4 |
C |
T |
3: 54,129,783 (GRCm39) |
S183F |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,716,478 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
A |
C |
4: 25,269,082 (GRCm39) |
S170A |
probably benign |
Het |
| Vmn2r66 |
G |
A |
7: 84,643,908 (GRCm39) |
T834I |
probably benign |
Het |
| Vmn2r75 |
A |
G |
7: 85,814,786 (GRCm39) |
S236P |
possibly damaging |
Het |
| Zfp345 |
A |
T |
2: 150,316,805 (GRCm39) |
|
probably benign |
Het |
| Zfp955b |
T |
C |
17: 33,520,893 (GRCm39) |
S121P |
probably 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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation