Incidental Mutation 'R6782:Gtf3c2'
ID |
531455 |
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 |
044896-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.578)
|
Stock # |
R6782 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
31313350-31337488 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 31327180 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 382
(L382R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144489
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088010]
[ENSMUST00000101411]
[ENSMUST00000200871]
[ENSMUST00000201428]
[ENSMUST00000201468]
[ENSMUST00000202300]
[ENSMUST00000202639]
|
AlphaFold |
Q8BL74 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088010
AA Change: L339R
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000085325 Gene: ENSMUSG00000106864 AA Change: L339R
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
AA Change: L339R
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000098957 Gene: ENSMUSG00000101678 AA Change: L339R
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 |
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 |
probably benign
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 benign
Transcript: ENSMUST00000202639
AA Change: L382R
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000144489 Gene: ENSMUSG00000106864 AA Change: L382R
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
C |
T |
7: 119,847,308 (GRCm39) |
A724V |
probably damaging |
Het |
Abcc3 |
A |
T |
11: 94,249,776 (GRCm39) |
F1055L |
probably damaging |
Het |
Akt3 |
A |
T |
1: 176,877,756 (GRCm39) |
Y337* |
probably null |
Het |
Ankrd17 |
T |
C |
5: 90,402,597 (GRCm39) |
K1488R |
possibly damaging |
Het |
Ano1 |
G |
A |
7: 144,175,424 (GRCm39) |
T498I |
probably damaging |
Het |
Arhgap42 |
T |
A |
9: 9,115,721 (GRCm39) |
K118N |
probably damaging |
Het |
Arl5b |
A |
G |
2: 15,077,993 (GRCm39) |
E106G |
probably damaging |
Het |
Atp5mc3 |
C |
T |
2: 73,739,672 (GRCm39) |
R56Q |
probably benign |
Het |
Bbx |
T |
C |
16: 50,020,928 (GRCm39) |
R749G |
probably benign |
Het |
Cacna1g |
A |
G |
11: 94,350,376 (GRCm39) |
S490P |
probably damaging |
Het |
Ccdc63 |
A |
T |
5: 122,249,077 (GRCm39) |
Y417* |
probably null |
Het |
Cep162 |
A |
T |
9: 87,093,737 (GRCm39) |
N880K |
probably benign |
Het |
Chd2 |
G |
A |
7: 73,125,127 (GRCm39) |
Q77* |
probably null |
Het |
Cntrl |
T |
G |
2: 35,060,658 (GRCm39) |
M1397R |
possibly damaging |
Het |
Dcaf7 |
A |
G |
11: 105,945,581 (GRCm39) |
Y310C |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,449,302 (GRCm39) |
S4235T |
possibly damaging |
Het |
Dot1l |
C |
T |
10: 80,625,224 (GRCm39) |
P1157L |
probably damaging |
Het |
Esco2 |
T |
C |
14: 66,057,465 (GRCm39) |
T577A |
probably benign |
Het |
Foxp1 |
T |
C |
6: 98,907,106 (GRCm39) |
D624G |
probably damaging |
Het |
Gfi1 |
A |
T |
5: 107,873,819 (GRCm39) |
|
probably null |
Het |
Gm10985 |
TTCTCTCTCTCTCTCTCT |
TTCTCTCTCTCTCTCT |
3: 53,752,626 (GRCm39) |
|
probably null |
Het |
Gm5113 |
G |
A |
7: 29,878,178 (GRCm39) |
V89I |
probably benign |
Het |
H3c2 |
T |
C |
13: 23,936,393 (GRCm39) |
S11P |
probably benign |
Het |
Hhip |
T |
C |
8: 80,778,233 (GRCm39) |
N99S |
probably damaging |
Het |
Htr5b |
T |
C |
1: 121,438,227 (GRCm39) |
I335V |
probably benign |
Het |
Ifi206 |
A |
G |
1: 173,308,923 (GRCm39) |
S358P |
unknown |
Het |
Loxhd1 |
T |
A |
18: 77,518,873 (GRCm39) |
V1893D |
probably damaging |
Het |
Mical2 |
A |
G |
7: 111,945,968 (GRCm39) |
R11G |
probably damaging |
Het |
Mrc1 |
T |
C |
2: 14,266,148 (GRCm39) |
|
probably null |
Het |
Npr1 |
T |
C |
3: 90,363,560 (GRCm39) |
N821S |
probably benign |
Het |
Or4g16 |
A |
G |
2: 111,137,090 (GRCm39) |
D180G |
probably damaging |
Het |
Or52a24 |
A |
G |
7: 103,381,549 (GRCm39) |
T139A |
possibly damaging |
Het |
Or5p63 |
T |
C |
7: 107,811,670 (GRCm39) |
D22G |
probably benign |
Het |
Or5p70 |
T |
G |
7: 107,994,744 (GRCm39) |
M139R |
probably damaging |
Het |
Pi4ka |
T |
A |
16: 17,143,852 (GRCm39) |
D739V |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Ptprd |
T |
C |
4: 76,243,377 (GRCm39) |
|
probably null |
Het |
Ralgapb |
G |
A |
2: 158,278,486 (GRCm39) |
G5R |
probably damaging |
Het |
Ric8b |
T |
C |
10: 84,783,391 (GRCm39) |
V83A |
probably damaging |
Het |
Sdc2 |
C |
A |
15: 33,028,281 (GRCm39) |
T133K |
probably damaging |
Het |
Slc12a7 |
T |
A |
13: 73,947,088 (GRCm39) |
V592D |
probably damaging |
Het |
Sorcs1 |
G |
T |
19: 50,164,560 (GRCm39) |
Y990* |
probably null |
Het |
Spata13 |
G |
T |
14: 60,928,912 (GRCm39) |
G157W |
probably damaging |
Het |
Tada1 |
A |
G |
1: 166,217,541 (GRCm39) |
N226S |
probably benign |
Het |
Tenm3 |
A |
G |
8: 49,099,291 (GRCm39) |
|
probably null |
Het |
Tll1 |
A |
G |
8: 64,524,315 (GRCm39) |
V457A |
probably benign |
Het |
Tmem232 |
T |
C |
17: 65,807,119 (GRCm39) |
K25E |
possibly damaging |
Het |
Tnrc18 |
T |
C |
5: 142,773,063 (GRCm39) |
S406G |
unknown |
Het |
Ush2a |
A |
G |
1: 188,089,031 (GRCm39) |
M329V |
probably benign |
Het |
Vmn2r107 |
T |
C |
17: 20,577,141 (GRCm39) |
S380P |
probably damaging |
Het |
Vmn2r73 |
A |
G |
7: 85,519,563 (GRCm39) |
M465T |
probably benign |
Het |
Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
Zfp217 |
T |
C |
2: 169,958,178 (GRCm39) |
D463G |
probably damaging |
Het |
Zfp345 |
T |
C |
2: 150,315,274 (GRCm39) |
S88G |
probably damaging |
Het |
Zfp975 |
A |
C |
7: 42,311,454 (GRCm39) |
N386K |
probably benign |
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 |
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 |
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'- TCTGCATATGTGAGCAATTTCC -3'
(R):5'- GTAGCTGCTGTACCCCTAAACC -3'
Sequencing Primer
(F):5'- TCACCTTAAATGTGGGCAGTACCG -3'
(R):5'- TGCTGTACCCCTAAACCACAAATC -3'
|
Posted On |
2018-08-29 |