Incidental Mutation 'R2437:Gtf3c2'
| ID |
249647 |
| 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 |
040398-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.578)
|
| Stock # |
R2437 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31313350-31337488 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 31317042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088010]
[ENSMUST00000088010]
[ENSMUST00000101411]
[ENSMUST00000101411]
[ENSMUST00000202639]
[ENSMUST00000202639]
|
| AlphaFold |
Q8BL74 |
| Predicted Effect |
|
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000136581
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201087
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201423
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202254
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
A |
G |
4: 148,031,075 (GRCm39) |
*635W |
probably null |
Het |
| Anxa2 |
A |
G |
9: 69,397,046 (GRCm39) |
Y317C |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,340,002 (GRCm39) |
S675P |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,012,834 (GRCm39) |
|
probably null |
Het |
| Camk2d |
A |
G |
3: 126,628,277 (GRCm39) |
N53S |
probably damaging |
Het |
| Carns1 |
A |
T |
19: 4,215,782 (GRCm39) |
M800K |
possibly damaging |
Het |
| Ces1f |
A |
T |
8: 93,996,767 (GRCm39) |
|
probably null |
Het |
| Chrne |
T |
A |
11: 70,506,086 (GRCm39) |
D426V |
possibly damaging |
Het |
| Cntfr |
T |
C |
4: 41,671,035 (GRCm39) |
T43A |
probably damaging |
Het |
| Cntn5 |
A |
T |
9: 10,048,758 (GRCm39) |
C63* |
probably null |
Het |
| Col12a1 |
G |
A |
9: 79,599,501 (GRCm39) |
T884I |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,307,537 (GRCm39) |
|
probably null |
Het |
| Dnajc2 |
A |
T |
5: 21,965,389 (GRCm39) |
S537R |
probably benign |
Het |
| Dnajc25 |
T |
C |
4: 59,020,234 (GRCm39) |
I100T |
probably damaging |
Het |
| Ephx1 |
C |
A |
1: 180,823,661 (GRCm39) |
G149C |
probably damaging |
Het |
| Fam163b |
G |
T |
2: 27,002,698 (GRCm39) |
P100T |
probably damaging |
Het |
| Fbxl9 |
A |
G |
8: 106,039,675 (GRCm39) |
|
probably null |
Het |
| Fgd5 |
A |
T |
6: 92,039,850 (GRCm39) |
R1017* |
probably null |
Het |
| Fibin |
A |
T |
2: 110,192,848 (GRCm39) |
L98Q |
probably damaging |
Het |
| Fndc3b |
A |
T |
3: 27,505,481 (GRCm39) |
L929H |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,918,410 (GRCm39) |
S512C |
probably damaging |
Het |
| Gm4922 |
T |
A |
10: 18,659,829 (GRCm39) |
M298L |
probably benign |
Het |
| Gstm2 |
G |
A |
3: 107,891,369 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
A |
C |
9: 85,590,178 (GRCm39) |
L1026V |
probably benign |
Het |
| Il9 |
T |
A |
13: 56,629,684 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,432,037 (GRCm39) |
S146P |
probably damaging |
Het |
| Kcnab1 |
G |
T |
3: 65,264,435 (GRCm39) |
|
probably benign |
Het |
| Mgat4c |
T |
C |
10: 102,224,436 (GRCm39) |
S217P |
probably damaging |
Het |
| Mr1 |
T |
C |
1: 155,008,277 (GRCm39) |
M233V |
probably benign |
Het |
| Ncoa2 |
G |
A |
1: 13,218,584 (GRCm39) |
T1415I |
probably damaging |
Het |
| Oasl2 |
G |
A |
5: 115,049,357 (GRCm39) |
D486N |
probably benign |
Het |
| Or1j14 |
A |
T |
2: 36,418,258 (GRCm39) |
Y278F |
probably damaging |
Het |
| Or9a7 |
G |
A |
6: 40,521,856 (GRCm39) |
T19I |
probably benign |
Het |
| Or9s27 |
T |
C |
1: 92,516,688 (GRCm39) |
I212T |
possibly damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,588,587 (GRCm39) |
F132L |
probably damaging |
Het |
| Pde5a |
T |
A |
3: 122,636,702 (GRCm39) |
L717Q |
probably damaging |
Het |
| Peli2 |
A |
T |
14: 48,465,389 (GRCm39) |
|
probably benign |
Het |
| Phf14 |
A |
G |
6: 11,962,657 (GRCm39) |
S435G |
probably damaging |
Het |
| Plekhg1 |
T |
A |
10: 3,913,564 (GRCm39) |
H1095Q |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,893,907 (GRCm39) |
|
probably null |
Het |
| Plekho1 |
T |
G |
3: 95,899,497 (GRCm39) |
N99H |
probably damaging |
Het |
| Plxnc1 |
T |
A |
10: 94,742,395 (GRCm39) |
K457N |
probably benign |
Het |
| Ppp1r3a |
T |
C |
6: 14,718,322 (GRCm39) |
E864G |
probably benign |
Het |
| Prkab2 |
T |
A |
3: 97,574,715 (GRCm39) |
L237Q |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptger3 |
T |
A |
3: 157,273,207 (GRCm39) |
C185S |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,230,709 (GRCm39) |
Y267H |
probably damaging |
Het |
| Pum2 |
A |
G |
12: 8,794,654 (GRCm39) |
I715V |
probably benign |
Het |
| R3hdm1 |
T |
C |
1: 128,114,573 (GRCm39) |
V518A |
probably damaging |
Het |
| Rab3d |
T |
C |
9: 21,827,147 (GRCm39) |
I28V |
probably damaging |
Het |
| Rad54b |
T |
C |
4: 11,606,272 (GRCm39) |
L560P |
probably damaging |
Het |
| Rgs20 |
A |
G |
1: 5,140,370 (GRCm39) |
|
probably null |
Het |
| Sesn1 |
T |
A |
10: 41,781,315 (GRCm39) |
L460H |
probably damaging |
Het |
| Slc39a14 |
A |
G |
14: 70,553,885 (GRCm39) |
|
probably null |
Het |
| Slco6c1 |
T |
A |
1: 96,990,201 (GRCm39) |
H663L |
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,132,926 (GRCm39) |
C63S |
probably benign |
Het |
| Spmip4 |
T |
A |
6: 50,560,959 (GRCm39) |
D212V |
probably damaging |
Het |
| Strip2 |
T |
C |
6: 29,941,940 (GRCm39) |
|
probably null |
Het |
| Syncrip |
A |
G |
9: 88,361,620 (GRCm39) |
|
probably benign |
Het |
| Taf15 |
A |
G |
11: 83,395,579 (GRCm39) |
|
probably benign |
Het |
| Tbc1d8 |
T |
C |
1: 39,444,368 (GRCm39) |
|
probably null |
Het |
| Tgm4 |
T |
A |
9: 122,877,614 (GRCm39) |
C205* |
probably null |
Het |
| Tmem212 |
A |
T |
3: 27,940,628 (GRCm39) |
L63Q |
possibly damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,054 (GRCm39) |
|
probably null |
Het |
| Trpm5 |
C |
A |
7: 142,636,298 (GRCm39) |
V525L |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,537,171 (GRCm39) |
L34919P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,694,619 (GRCm39) |
|
probably benign |
Het |
| Tuba4a |
T |
C |
1: 75,194,069 (GRCm39) |
I4V |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,200,853 (GRCm39) |
D4679G |
possibly damaging |
Het |
| Usp2 |
T |
G |
9: 44,003,445 (GRCm39) |
V448G |
probably damaging |
Het |
| Usp3 |
A |
G |
9: 66,453,024 (GRCm39) |
|
probably null |
Het |
| Zfp341 |
T |
A |
2: 154,470,721 (GRCm39) |
V246E |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTCCACAGAGCCCGTAACTG -3'
(R):5'- GGACTCTTCTGCATAGGTTCTG -3'
Sequencing Primer
(F):5'- AGCCCGTAACTGAAAAGGTG -3'
(R):5'- GCATAGGTTCTGATCTCATCTCC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation