Incidental Mutation 'R0534:Gtf3c2'
ID |
49359 |
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 |
038726-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.578)
|
Stock # |
R0534 (G1)
|
Quality Score |
192 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31313350-31337488 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 31315476 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]
[ENSMUST00000202639]
[ENSMUST00000200864]
[ENSMUST00000202241]
[ENSMUST00000201491]
[ENSMUST00000201353]
|
AlphaFold |
Q8BL74 |
Predicted Effect |
probably benign
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 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 |
noncoding transcript
Transcript: ENSMUST00000201423
|
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: ENSMUST00000202254
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202614
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202375
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201087
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202203
|
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 |
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 |
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
96% (47/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cand2 |
A |
G |
6: 115,764,197 (GRCm39) |
M324V |
probably damaging |
Het |
Cap1 |
C |
T |
4: 122,756,512 (GRCm39) |
V340M |
probably benign |
Het |
Ccdc110 |
T |
C |
8: 46,388,175 (GRCm39) |
V44A |
possibly damaging |
Het |
Cps1 |
A |
G |
1: 67,183,059 (GRCm39) |
D139G |
probably benign |
Het |
Cwc27 |
T |
A |
13: 104,768,124 (GRCm39) |
E457V |
unknown |
Het |
Cxxc1 |
C |
T |
18: 74,351,962 (GRCm39) |
P280S |
probably benign |
Het |
Dennd2b |
A |
T |
7: 109,140,635 (GRCm39) |
V197D |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,559,393 (GRCm39) |
L595Q |
probably benign |
Het |
Dscam |
G |
T |
16: 96,453,372 (GRCm39) |
S1292R |
possibly damaging |
Het |
E2f4 |
C |
A |
8: 106,030,851 (GRCm39) |
F353L |
probably damaging |
Het |
Ep300 |
A |
G |
15: 81,485,097 (GRCm39) |
|
probably benign |
Het |
Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
Fign |
T |
A |
2: 63,811,135 (GRCm39) |
H45L |
probably damaging |
Het |
Flcn |
T |
A |
11: 59,685,025 (GRCm39) |
|
probably benign |
Het |
Gm5141 |
A |
T |
13: 62,922,408 (GRCm39) |
F254I |
probably damaging |
Het |
Gpbp1l1 |
T |
A |
4: 116,448,465 (GRCm39) |
N402K |
probably damaging |
Het |
Gpr37 |
A |
T |
6: 25,669,823 (GRCm39) |
C340* |
probably null |
Het |
Hcfc2 |
T |
A |
10: 82,574,242 (GRCm39) |
F139I |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,486,539 (GRCm39) |
L3178P |
possibly damaging |
Het |
Hrc |
AGAGGAGGAGGAAGAGGAGGAGGA |
AGAGGAGGAGGAGGAAGAGGAGGAGGA |
7: 44,986,659 (GRCm39) |
|
probably benign |
Het |
Igf2bp1 |
A |
G |
11: 95,857,622 (GRCm39) |
|
probably benign |
Het |
Igsf9b |
T |
G |
9: 27,244,358 (GRCm39) |
|
probably null |
Het |
Il23r |
G |
A |
6: 67,403,572 (GRCm39) |
A443V |
probably benign |
Het |
Kcnv1 |
A |
G |
15: 44,972,645 (GRCm39) |
F413L |
probably damaging |
Het |
Lipe |
C |
A |
7: 25,087,611 (GRCm39) |
A150S |
possibly damaging |
Het |
Lrrcc1 |
T |
C |
3: 14,622,333 (GRCm39) |
S557P |
probably damaging |
Het |
Mrpl54 |
C |
A |
10: 81,102,687 (GRCm39) |
W13L |
probably damaging |
Het |
Mtcl3 |
T |
A |
10: 29,056,952 (GRCm39) |
|
probably benign |
Het |
Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
Npy1r |
C |
A |
8: 67,157,670 (GRCm39) |
Q327K |
probably damaging |
Het |
Nt5el |
C |
A |
13: 105,218,762 (GRCm39) |
S32* |
probably null |
Het |
Or51b17 |
C |
T |
7: 103,542,438 (GRCm39) |
R168H |
probably benign |
Het |
Osbpl10 |
C |
T |
9: 114,996,246 (GRCm39) |
L139F |
probably damaging |
Het |
P2rx6 |
A |
C |
16: 17,385,768 (GRCm39) |
T199P |
probably damaging |
Het |
Phyhip |
A |
T |
14: 70,699,199 (GRCm39) |
M1L |
possibly damaging |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Psmc1 |
T |
A |
12: 100,086,389 (GRCm39) |
I342N |
possibly damaging |
Het |
Reln |
A |
T |
5: 22,152,406 (GRCm39) |
D2353E |
probably damaging |
Het |
Rmdn3 |
T |
C |
2: 118,976,851 (GRCm39) |
E294G |
probably benign |
Het |
Scnn1g |
A |
G |
7: 121,366,647 (GRCm39) |
M615V |
probably benign |
Het |
Shcbp1l |
T |
A |
1: 153,304,314 (GRCm39) |
D124E |
possibly damaging |
Het |
Sipa1l1 |
T |
C |
12: 82,472,054 (GRCm39) |
S1345P |
possibly damaging |
Het |
Taf7l2 |
T |
C |
10: 115,948,707 (GRCm39) |
E273G |
possibly damaging |
Het |
Timp4 |
A |
G |
6: 115,226,802 (GRCm39) |
Y114H |
probably damaging |
Het |
Tlr9 |
T |
A |
9: 106,102,086 (GRCm39) |
L459Q |
probably benign |
Het |
Tmem104 |
C |
A |
11: 115,091,654 (GRCm39) |
T59K |
probably damaging |
Het |
Wdr59 |
GGGTGGTG |
GGGTG |
8: 112,207,172 (GRCm39) |
|
probably benign |
Het |
Zfp622 |
A |
T |
15: 25,984,654 (GRCm39) |
I7F |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATACCAGCCATCCATAGGAGTCCAG -3'
(R):5'- GATTTGATACCATACCAGGACAGCCC -3'
Sequencing Primer
(F):5'- cacacctttcatctcagcaatc -3'
(R):5'- CACTACTTGCTCTTTCAAGATACAG -3'
|
Posted On |
2013-06-12 |