Incidental Mutation 'R4817:Gtf3c2'
| ID |
369899 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf3c2
|
| Ensembl Gene |
ENSMUSG00000106864 |
| Gene Name |
general transcription factor IIIC, polypeptide 2, beta |
| Synonyms |
2610510G03Rik, 1300004C11Rik, TFIIIC110, TFIIIC-BETA |
| MMRRC Submission |
042435-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.636)
|
| Stock # |
R4817 (G1)
|
| Quality Score |
195 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31313350-31337488 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
C to T
at 31331434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088010]
[ENSMUST00000088010]
[ENSMUST00000088010]
[ENSMUST00000088010]
[ENSMUST00000101411]
[ENSMUST00000101411]
[ENSMUST00000101411]
[ENSMUST00000101411]
[ENSMUST00000200871]
[ENSMUST00000201428]
[ENSMUST00000201428]
[ENSMUST00000201428]
[ENSMUST00000201428]
[ENSMUST00000202300]
[ENSMUST00000202300]
[ENSMUST00000202300]
[ENSMUST00000202300]
[ENSMUST00000201468]
[ENSMUST00000201468]
[ENSMUST00000201468]
[ENSMUST00000201468]
[ENSMUST00000202639]
[ENSMUST00000202639]
[ENSMUST00000202639]
[ENSMUST00000202639]
|
| AlphaFold |
Q8BL74 |
| Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000140793
|
| SMART Domains |
Protein: ENSMUSP00000119247
Gene: ENSMUSG00000029144
| 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 null
Transcript: ENSMUST00000153504
|
| SMART Domains |
Protein: ENSMUSP00000120538
Gene: ENSMUSG00000029144
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200871
|
| Predicted Effect |
probably null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000202300
|
| SMART Domains |
Protein: ENSMUSP00000144249
Gene: ENSMUSG00000106864
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202300
|
| SMART Domains |
Protein: ENSMUSP00000144249
Gene: ENSMUSG00000106864
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202300
|
| SMART Domains |
Protein: ENSMUSP00000144249
Gene: ENSMUSG00000106864
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202300
|
| SMART Domains |
Protein: ENSMUSP00000144249
Gene: ENSMUSG00000106864
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000202254
|
| Meta Mutation Damage Score |
0.9585 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
96% (108/112) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp2 |
T |
A |
2: 91,033,963 (GRCm39) |
D44E |
probably damaging |
Het |
| Acp5 |
T |
C |
9: 22,038,379 (GRCm39) |
I307M |
probably benign |
Het |
| Ahsa1 |
A |
G |
12: 87,319,940 (GRCm39) |
D245G |
possibly damaging |
Het |
| Ankrd40 |
A |
G |
11: 94,230,459 (GRCm39) |
K316E |
probably benign |
Het |
| Apol9b |
G |
A |
15: 77,620,088 (GRCm39) |
E295K |
possibly damaging |
Het |
| Aqp4 |
C |
A |
18: 15,532,815 (GRCm39) |
G93C |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,854,967 (GRCm39) |
V1465A |
probably benign |
Het |
| Arhgap5 |
C |
T |
12: 52,565,992 (GRCm39) |
P988S |
possibly damaging |
Het |
| Asxl3 |
A |
C |
18: 22,658,511 (GRCm39) |
K2174Q |
probably damaging |
Het |
| Brf1 |
A |
T |
12: 112,935,921 (GRCm39) |
I250N |
probably damaging |
Het |
| Calm1 |
A |
G |
12: 100,169,832 (GRCm39) |
|
probably null |
Het |
| Ccdc33 |
C |
T |
9: 57,974,818 (GRCm39) |
V352M |
probably damaging |
Het |
| Ccdc88a |
G |
T |
11: 29,410,907 (GRCm39) |
K464N |
probably benign |
Het |
| Cdadc1 |
AGACGGA |
AGA |
14: 59,806,440 (GRCm39) |
|
probably null |
Het |
| Cdc25b |
T |
A |
2: 131,035,223 (GRCm39) |
I327N |
probably damaging |
Het |
| Cenpf |
G |
A |
1: 189,414,566 (GRCm39) |
H184Y |
possibly damaging |
Het |
| Cimap1d |
G |
A |
10: 79,475,851 (GRCm39) |
P238S |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,811,497 (GRCm39) |
T674I |
unknown |
Het |
| Creg2 |
A |
T |
1: 39,662,358 (GRCm39) |
M258K |
probably damaging |
Het |
| Csf3r |
T |
A |
4: 125,931,449 (GRCm39) |
Y477* |
probably null |
Het |
| Cyp3a44 |
T |
A |
5: 145,740,565 (GRCm39) |
Y25F |
possibly damaging |
Het |
| Degs2 |
T |
A |
12: 108,655,325 (GRCm39) |
R283* |
probably null |
Het |
| Dido1 |
T |
C |
2: 180,303,209 (GRCm39) |
N1565S |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 72,999,407 (GRCm39) |
M4008K |
probably benign |
Het |
| Dnmbp |
C |
A |
19: 43,838,411 (GRCm39) |
G1138V |
probably benign |
Het |
| Drosha |
A |
C |
15: 12,914,133 (GRCm39) |
H1136P |
probably damaging |
Het |
| Duox2 |
T |
G |
2: 122,126,996 (GRCm39) |
N173T |
probably damaging |
Het |
| Dync1li1 |
T |
G |
9: 114,534,162 (GRCm39) |
I87M |
probably benign |
Het |
| E2f8 |
A |
C |
7: 48,517,494 (GRCm39) |
S770A |
probably benign |
Het |
| Efemp1 |
A |
G |
11: 28,876,241 (GRCm39) |
T469A |
probably damaging |
Het |
| Eif3f |
A |
T |
7: 108,536,982 (GRCm39) |
T136S |
probably damaging |
Het |
| Enpp5 |
T |
C |
17: 44,391,871 (GRCm39) |
*46R |
probably null |
Het |
| Epb41l4b |
A |
G |
4: 57,103,428 (GRCm39) |
V136A |
probably damaging |
Het |
| Fam186a |
A |
C |
15: 99,831,419 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
A |
G |
11: 49,516,242 (GRCm39) |
Y115C |
probably damaging |
Het |
| Gal |
T |
A |
19: 3,461,126 (GRCm39) |
|
probably null |
Het |
| Galnt3 |
C |
T |
2: 65,923,883 (GRCm39) |
V462I |
possibly damaging |
Het |
| Gas2l1 |
A |
G |
11: 5,011,429 (GRCm39) |
S467P |
possibly damaging |
Het |
| Gbx1 |
A |
G |
5: 24,731,204 (GRCm39) |
L204P |
probably damaging |
Het |
| Gle1 |
T |
A |
2: 29,826,223 (GRCm39) |
S101T |
probably benign |
Het |
| Gltpd2 |
A |
C |
11: 70,410,303 (GRCm39) |
Q87P |
probably damaging |
Het |
| Gm12789 |
T |
A |
4: 101,846,079 (GRCm39) |
D113E |
probably damaging |
Het |
| Grin3b |
G |
A |
10: 79,812,732 (GRCm39) |
G936R |
probably benign |
Het |
| Gvin3 |
T |
A |
7: 106,200,437 (GRCm39) |
|
noncoding transcript |
Het |
| Klhl28 |
T |
C |
12: 65,004,043 (GRCm39) |
T157A |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,732,763 (GRCm39) |
|
probably benign |
Het |
| Lamp1 |
A |
G |
8: 13,222,541 (GRCm39) |
T242A |
probably benign |
Het |
| Lhfpl5 |
T |
G |
17: 28,795,300 (GRCm39) |
I109S |
possibly damaging |
Het |
| Lhfpl5 |
T |
A |
17: 28,801,962 (GRCm39) |
*220R |
probably null |
Het |
| Map4k2 |
C |
T |
19: 6,394,459 (GRCm39) |
T313I |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,423,945 (GRCm39) |
D601G |
probably damaging |
Het |
| Mcur1 |
C |
T |
13: 43,705,147 (GRCm39) |
V170M |
possibly damaging |
Het |
| Mphosph10 |
T |
C |
7: 64,041,969 (GRCm39) |
|
probably benign |
Het |
| Nat8l |
G |
A |
5: 34,158,387 (GRCm39) |
A266T |
probably benign |
Het |
| Nckap5 |
G |
T |
1: 125,954,952 (GRCm39) |
D469E |
possibly damaging |
Het |
| Nckap5l |
G |
T |
15: 99,321,067 (GRCm39) |
P1238T |
probably damaging |
Het |
| Ngf |
A |
G |
3: 102,417,156 (GRCm39) |
|
probably benign |
Het |
| Ntng1 |
T |
A |
3: 109,842,184 (GRCm39) |
L196F |
probably damaging |
Het |
| Or2q1 |
A |
G |
6: 42,794,896 (GRCm39) |
I164V |
possibly damaging |
Het |
| Or2v2 |
A |
T |
11: 49,004,448 (GRCm39) |
V35D |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,725,045 (GRCm39) |
Y1301F |
unknown |
Het |
| Pclo |
A |
G |
5: 14,763,139 (GRCm39) |
T3871A |
unknown |
Het |
| Peli3 |
T |
C |
19: 4,982,594 (GRCm39) |
E357G |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,784,348 (GRCm39) |
|
probably null |
Het |
| Pla2g2c |
T |
G |
4: 138,461,645 (GRCm39) |
F38C |
probably damaging |
Het |
| Plekha2 |
T |
A |
8: 25,549,960 (GRCm39) |
T126S |
possibly damaging |
Het |
| Polr3f |
T |
A |
2: 144,376,001 (GRCm39) |
*142K |
probably null |
Het |
| Ppcs |
C |
T |
4: 119,276,343 (GRCm39) |
V81M |
probably benign |
Het |
| Prl7a1 |
A |
G |
13: 27,819,747 (GRCm39) |
I169T |
probably damaging |
Het |
| Rbm19 |
C |
A |
5: 120,271,799 (GRCm39) |
|
probably benign |
Het |
| Rdh7 |
T |
A |
10: 127,721,631 (GRCm39) |
Y215F |
probably benign |
Het |
| Rragd |
T |
G |
4: 32,995,072 (GRCm39) |
S62R |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,997,728 (GRCm39) |
S1114P |
possibly damaging |
Het |
| Serpinb5 |
G |
T |
1: 106,800,069 (GRCm39) |
L86F |
probably damaging |
Het |
| Setbp1 |
A |
G |
18: 78,902,015 (GRCm39) |
S551P |
probably damaging |
Het |
| Setd6 |
T |
C |
8: 96,443,683 (GRCm39) |
|
probably benign |
Het |
| Slmap |
A |
C |
14: 26,183,507 (GRCm39) |
M292R |
probably damaging |
Het |
| Srrm4 |
T |
C |
5: 116,615,193 (GRCm39) |
D97G |
unknown |
Het |
| Stk-ps2 |
G |
A |
1: 46,068,125 (GRCm39) |
|
noncoding transcript |
Het |
| Syce1 |
A |
T |
7: 140,358,336 (GRCm39) |
M204K |
probably benign |
Het |
| Syk |
A |
G |
13: 52,765,242 (GRCm39) |
K123R |
probably benign |
Het |
| Tbc1d14 |
A |
T |
5: 36,729,175 (GRCm39) |
S64T |
probably damaging |
Het |
| Tmt1a3 |
A |
T |
15: 100,233,214 (GRCm39) |
D135V |
probably damaging |
Het |
| Traf3ip3 |
T |
C |
1: 192,867,137 (GRCm39) |
K295E |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,269,370 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
T |
A |
17: 24,815,716 (GRCm39) |
|
probably null |
Het |
| Tspyl4 |
T |
A |
10: 34,173,734 (GRCm39) |
C75* |
probably null |
Het |
| Uqcc2 |
T |
C |
17: 27,344,133 (GRCm39) |
I52V |
probably benign |
Het |
| Vcp |
T |
A |
4: 42,983,486 (GRCm39) |
T525S |
probably damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,897 (GRCm39) |
|
probably null |
Het |
| Vmp1 |
A |
G |
11: 86,492,879 (GRCm39) |
V310A |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,795,735 (GRCm39) |
R3671S |
probably damaging |
Het |
| Wdr3 |
T |
C |
3: 100,053,861 (GRCm39) |
T544A |
possibly damaging |
Het |
| Zc3h14 |
C |
G |
12: 98,719,107 (GRCm39) |
D157E |
probably damaging |
Het |
| Zfp541 |
T |
A |
7: 15,824,307 (GRCm39) |
F1010I |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,768,032 (GRCm39) |
T527A |
probably benign |
Het |
| Zyx |
G |
T |
6: 42,333,421 (GRCm39) |
R449M |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTTTGGACAACTTCAATAG -3'
(R):5'- ATCAGGAAAGCCTCACCAGG -3'
Sequencing Primer
(F):5'- AATAGTAGCAGGTCTCCCTTGGAC -3'
(R):5'- TCACCAGGTTGGAACAGC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation