Incidental Mutation 'R7363:Gtf3c2'
| ID |
571464 |
| 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 |
045448-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.578)
|
| Stock # |
R7363 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31313350-31337488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 31327600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 288
(R288W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088010]
[ENSMUST00000101411]
[ENSMUST00000200871]
[ENSMUST00000201428]
[ENSMUST00000201468]
[ENSMUST00000202300]
[ENSMUST00000202639]
|
| AlphaFold |
Q8BL74 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088010
AA Change: R288W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: R288W
| 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 damaging
Transcript: ENSMUST00000101411
AA Change: R288W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678
AA Change: R288W
| 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 damaging
Transcript: ENSMUST00000202639
AA Change: R331W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: R331W
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
A |
2: 35,244,782 (GRCm39) |
N190I |
probably damaging |
Het |
| Ablim1 |
G |
T |
19: 57,204,173 (GRCm39) |
L73I |
probably benign |
Het |
| Adamts4 |
A |
T |
1: 171,086,608 (GRCm39) |
Q800L |
probably benign |
Het |
| Atm |
A |
T |
9: 53,376,598 (GRCm39) |
I2014N |
probably damaging |
Het |
| Atp2a1 |
A |
G |
7: 126,062,061 (GRCm39) |
C12R |
possibly damaging |
Het |
| B3galnt1 |
A |
T |
3: 69,483,157 (GRCm39) |
Y35N |
probably damaging |
Het |
| Bnc2 |
A |
T |
4: 84,210,308 (GRCm39) |
M687K |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,320,939 (GRCm39) |
Y917C |
probably damaging |
Het |
| Cemip2 |
T |
C |
19: 21,833,575 (GRCm39) |
F1338L |
probably benign |
Het |
| Ces2e |
A |
G |
8: 105,659,632 (GRCm39) |
|
probably null |
Het |
| Cldn23 |
A |
G |
8: 36,292,659 (GRCm39) |
|
probably null |
Het |
| Cntn5 |
G |
T |
9: 10,172,021 (GRCm39) |
S54R |
probably benign |
Het |
| Cyria |
T |
A |
12: 12,390,665 (GRCm39) |
|
probably null |
Het |
| Dido1 |
G |
T |
2: 180,304,310 (GRCm39) |
S1198* |
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,445,766 (GRCm39) |
M776V |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,518,089 (GRCm39) |
|
probably null |
Het |
| Dnttip1 |
GGGCCGGC |
GGGC |
2: 164,599,605 (GRCm39) |
|
probably null |
Het |
| Dusp28 |
A |
T |
1: 92,834,861 (GRCm39) |
T29S |
probably benign |
Het |
| Erich1 |
A |
T |
8: 14,083,688 (GRCm39) |
S127R |
probably benign |
Het |
| Fam151a |
T |
A |
4: 106,602,681 (GRCm39) |
L200H |
probably damaging |
Het |
| Fbxw8 |
A |
T |
5: 118,263,057 (GRCm39) |
H207Q |
probably damaging |
Het |
| Fgf22 |
A |
G |
10: 79,592,676 (GRCm39) |
E116G |
probably benign |
Het |
| Gapvd1 |
C |
A |
2: 34,602,207 (GRCm39) |
V647F |
probably benign |
Het |
| Garin4 |
A |
T |
1: 190,895,910 (GRCm39) |
S244R |
probably damaging |
Het |
| Gja4 |
T |
A |
4: 127,206,487 (GRCm39) |
Y92F |
probably damaging |
Het |
| Hira |
G |
T |
16: 18,716,532 (GRCm39) |
R99L |
possibly damaging |
Het |
| Ighv16-1 |
C |
T |
12: 114,032,721 (GRCm39) |
G27D |
probably damaging |
Het |
| Igkv1-133 |
C |
T |
6: 67,702,395 (GRCm39) |
P38S |
probably benign |
Het |
| Igkv4-59 |
T |
C |
6: 69,415,396 (GRCm39) |
Y53C |
probably damaging |
Het |
| Il23a |
T |
C |
10: 128,133,020 (GRCm39) |
E113G |
probably damaging |
Het |
| Kcnip1 |
A |
G |
11: 33,584,589 (GRCm39) |
V188A |
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,216,850 (GRCm39) |
K155E |
unknown |
Het |
| Lancl2 |
T |
G |
6: 57,699,664 (GRCm39) |
C169G |
probably benign |
Het |
| Lrrc26 |
A |
G |
2: 25,180,581 (GRCm39) |
D194G |
probably benign |
Het |
| Lrrfip1 |
C |
T |
1: 91,050,842 (GRCm39) |
A545V |
probably benign |
Het |
| Lrtm1 |
T |
C |
14: 28,743,850 (GRCm39) |
F106S |
probably damaging |
Het |
| Lypd2 |
A |
T |
15: 74,604,848 (GRCm39) |
M49K |
probably damaging |
Het |
| Mbd1 |
A |
C |
18: 74,406,357 (GRCm39) |
D63A |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,691,729 (GRCm39) |
F990L |
probably damaging |
Het |
| Mtfr1l |
T |
C |
4: 134,256,577 (GRCm39) |
E196G |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,705,874 (GRCm39) |
T2007A |
probably benign |
Het |
| Nckap1 |
G |
A |
2: 80,370,512 (GRCm39) |
R393C |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,209,508 (GRCm39) |
T1605M |
probably benign |
Het |
| Or1e33 |
T |
C |
11: 73,738,741 (GRCm39) |
D70G |
probably damaging |
Het |
| Or5j3 |
GTACTTTTT |
GT |
2: 86,128,338 (GRCm39) |
|
probably null |
Het |
| Pgap2 |
T |
A |
7: 101,875,467 (GRCm39) |
|
probably null |
Het |
| Pitrm1 |
A |
G |
13: 6,619,387 (GRCm39) |
S741G |
probably benign |
Het |
| Plcd4 |
A |
T |
1: 74,590,231 (GRCm39) |
S155C |
probably null |
Het |
| Poc5 |
A |
T |
13: 96,540,925 (GRCm39) |
T365S |
possibly damaging |
Het |
| Ppp2r5c |
G |
A |
12: 110,489,041 (GRCm39) |
A71T |
probably benign |
Het |
| Prdm6 |
T |
A |
18: 53,598,199 (GRCm39) |
I187N |
possibly damaging |
Het |
| Pxk |
A |
G |
14: 8,152,118 (GRCm38) |
Q478R |
probably benign |
Het |
| Rgl1 |
T |
C |
1: 152,394,914 (GRCm39) |
Y718C |
probably damaging |
Het |
| Ring1 |
G |
T |
17: 34,243,336 (GRCm39) |
T2K |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,173,897 (GRCm39) |
S2022G |
probably benign |
Het |
| Sec61a1 |
C |
A |
6: 88,492,533 (GRCm39) |
V32F |
probably benign |
Het |
| Sv2b |
G |
A |
7: 74,797,402 (GRCm39) |
P331S |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,090,970 (GRCm39) |
S795G |
possibly damaging |
Het |
| Tmod2 |
T |
C |
9: 75,484,023 (GRCm39) |
E309G |
probably damaging |
Het |
| Tpp2 |
T |
G |
1: 44,024,582 (GRCm39) |
S987A |
probably benign |
Het |
| Trim75 |
G |
C |
8: 65,435,539 (GRCm39) |
H304D |
probably damaging |
Het |
| Trp53bp2 |
G |
T |
1: 182,272,231 (GRCm39) |
D447Y |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,936,751 (GRCm39) |
K697E |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,339,909 (GRCm39) |
H22L |
probably benign |
Het |
| Vmn2r4 |
G |
A |
3: 64,314,432 (GRCm39) |
S183F |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,256,147 (GRCm39) |
Y721H |
probably benign |
Het |
| Wbp1l |
C |
T |
19: 46,642,569 (GRCm39) |
P190L |
possibly damaging |
Het |
| Zcchc4 |
A |
T |
5: 52,942,510 (GRCm39) |
Q105L |
possibly damaging |
Het |
| Zfp236 |
T |
C |
18: 82,639,456 (GRCm39) |
R1264G |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,616,413 (GRCm39) |
N54K |
probably damaging |
Het |
| Zkscan3 |
C |
T |
13: 21,571,992 (GRCm39) |
G547S |
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 |
|
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 |
|
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'- GAACCCAAGAGATTGTGCCC -3'
(R):5'- CCTTTGAGTCAAATGTGGAGAC -3'
Sequencing Primer
(F):5'- CCAAGAGATTGTGCCCTTTTAACAC -3'
(R):5'- CTTTGAGTCAAATGTGGAGACTGAAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation