Incidental Mutation 'IGL02888:Gtf3c2'
ID |
363075 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gtf3c2
|
Ensembl Gene |
ENSMUSG00000106864 |
Gene Name |
general transcription factor IIIC, polypeptide 2, beta |
Synonyms |
2610510G03Rik, 1300004C11Rik, TFIIIC110, TFIIIC-BETA |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.636)
|
Stock # |
IGL02888
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
31313350-31337488 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 31331169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 169
(P169L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144489
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088010]
[ENSMUST00000101411]
[ENSMUST00000200871]
[ENSMUST00000201428]
[ENSMUST00000201468]
[ENSMUST00000202639]
[ENSMUST00000202300]
|
AlphaFold |
Q8BL74 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000088010
AA Change: P169L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000085325 Gene: ENSMUSG00000106864 AA Change: P169L
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: P169L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000098957 Gene: ENSMUSG00000101678 AA Change: P169L
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 damaging
Transcript: ENSMUST00000201428
AA Change: P169L
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000144212 Gene: ENSMUSG00000106864 AA Change: P169L
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 damaging
Transcript: ENSMUST00000201468
AA Change: P169L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000144675 Gene: ENSMUSG00000106864 AA Change: P169L
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
low complexity region
|
144 |
159 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202218
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202254
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000202639
AA Change: P169L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144489 Gene: ENSMUSG00000106864 AA Change: P169L
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 |
probably benign
Transcript: ENSMUST00000202300
|
SMART Domains |
Protein: ENSMUSP00000144249 Gene: ENSMUSG00000106864
Domain | Start | End | E-Value | Type |
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34 |
T |
C |
8: 44,104,610 (GRCm39) |
H345R |
probably damaging |
Het |
Afap1l1 |
T |
A |
18: 61,881,879 (GRCm39) |
Y272F |
probably damaging |
Het |
AI661453 |
C |
A |
17: 47,778,329 (GRCm39) |
|
probably benign |
Het |
Ajap1 |
T |
G |
4: 153,516,718 (GRCm39) |
I208L |
probably benign |
Het |
Aldh3b2 |
G |
A |
19: 4,030,083 (GRCm39) |
V356M |
probably benign |
Het |
Angptl7 |
T |
A |
4: 148,580,788 (GRCm39) |
|
probably benign |
Het |
Atp2a3 |
G |
A |
11: 72,867,954 (GRCm39) |
|
probably benign |
Het |
Birc2 |
T |
C |
9: 7,819,559 (GRCm39) |
D451G |
probably benign |
Het |
Brpf3 |
G |
A |
17: 29,047,365 (GRCm39) |
R1043H |
probably damaging |
Het |
Cd177 |
A |
G |
7: 24,457,862 (GRCm39) |
L132P |
probably damaging |
Het |
Chsy3 |
A |
G |
18: 59,543,067 (GRCm39) |
D735G |
probably benign |
Het |
Cldn8 |
A |
T |
16: 88,359,271 (GRCm39) |
I218K |
probably benign |
Het |
Cltc |
T |
C |
11: 86,648,123 (GRCm39) |
|
probably benign |
Het |
Col22a1 |
T |
C |
15: 71,718,068 (GRCm39) |
H619R |
unknown |
Het |
Crxos |
G |
A |
7: 15,636,855 (GRCm39) |
E143K |
possibly damaging |
Het |
Dcp1b |
A |
G |
6: 119,197,048 (GRCm39) |
|
probably benign |
Het |
Ddc |
A |
G |
11: 11,772,297 (GRCm39) |
|
probably benign |
Het |
Dnajc13 |
A |
T |
9: 104,057,261 (GRCm39) |
|
probably benign |
Het |
Dnajc27 |
C |
T |
12: 4,139,186 (GRCm39) |
H75Y |
possibly damaging |
Het |
Fgd3 |
C |
T |
13: 49,435,292 (GRCm39) |
|
probably null |
Het |
Gcc2 |
A |
G |
10: 58,130,650 (GRCm39) |
D1414G |
probably damaging |
Het |
Ighv1-76 |
T |
A |
12: 115,811,566 (GRCm39) |
S96C |
probably damaging |
Het |
Lmbrd1 |
T |
A |
1: 24,754,053 (GRCm39) |
I206K |
possibly damaging |
Het |
Lypd5 |
A |
G |
7: 24,052,044 (GRCm39) |
S120G |
probably damaging |
Het |
Mgat4b |
T |
A |
11: 50,123,159 (GRCm39) |
Y249N |
probably damaging |
Het |
Msh4 |
A |
T |
3: 153,602,550 (GRCm39) |
L32* |
probably null |
Het |
Muc4 |
A |
G |
16: 32,575,656 (GRCm39) |
|
probably benign |
Het |
Myo6 |
A |
G |
9: 80,177,013 (GRCm39) |
|
probably benign |
Het |
Nenf |
T |
C |
1: 191,042,118 (GRCm39) |
T113A |
probably benign |
Het |
Nup85 |
A |
G |
11: 115,469,626 (GRCm39) |
D75G |
possibly damaging |
Het |
Nutm1 |
A |
T |
2: 112,080,980 (GRCm39) |
L438Q |
probably damaging |
Het |
Oas1h |
A |
T |
5: 120,999,610 (GRCm39) |
I32F |
probably benign |
Het |
Oasl1 |
G |
A |
5: 115,075,241 (GRCm39) |
V434M |
probably damaging |
Het |
Or2a5 |
A |
G |
6: 42,874,263 (GRCm39) |
N293D |
probably damaging |
Het |
Or9s27 |
T |
C |
1: 92,516,925 (GRCm39) |
L291P |
probably damaging |
Het |
Pde2a |
C |
A |
7: 101,154,276 (GRCm39) |
H549Q |
probably damaging |
Het |
Phkb |
G |
T |
8: 86,662,101 (GRCm39) |
|
probably null |
Het |
Pigm |
T |
C |
1: 172,205,214 (GRCm39) |
C317R |
probably damaging |
Het |
Ppl |
A |
T |
16: 4,918,271 (GRCm39) |
S470R |
possibly damaging |
Het |
Pramel14 |
G |
A |
4: 143,720,669 (GRCm39) |
R91W |
probably benign |
Het |
Slc13a4 |
A |
T |
6: 35,245,775 (GRCm39) |
D623E |
probably benign |
Het |
Stx11 |
A |
G |
10: 12,817,359 (GRCm39) |
S122P |
possibly damaging |
Het |
Sytl3 |
A |
G |
17: 7,000,483 (GRCm39) |
T218A |
probably benign |
Het |
Tango6 |
A |
G |
8: 107,447,297 (GRCm39) |
D565G |
probably damaging |
Het |
Tex14 |
T |
C |
11: 87,418,738 (GRCm39) |
|
probably null |
Het |
Tinag |
T |
C |
9: 76,938,995 (GRCm39) |
D161G |
probably benign |
Het |
Vcpip1 |
T |
C |
1: 9,795,011 (GRCm39) |
D1120G |
probably damaging |
Het |
Zfp446 |
G |
A |
7: 12,713,255 (GRCm39) |
A98T |
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 |
|
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 |
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 |
|
Posted On |
2015-12-18 |