Incidental Mutation 'R7754:Gtf3c2'
ID |
597433 |
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 |
045810-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.578)
|
Stock # |
R7754 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31313350-31337488 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 31330175 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 265
(D265G)
|
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 benign
Transcript: ENSMUST00000088010
AA Change: D265G
PolyPhen 2
Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000085325 Gene: ENSMUSG00000106864 AA Change: D265G
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 |
possibly damaging
Transcript: ENSMUST00000101411
AA Change: D265G
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000098957 Gene: ENSMUSG00000101678 AA Change: D265G
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 |
possibly damaging
Transcript: ENSMUST00000202639
AA Change: D308G
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000144489 Gene: ENSMUSG00000106864 AA Change: D308G
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930553M12Rik |
A |
T |
4: 88,786,496 (GRCm39) |
W41R |
unknown |
Het |
Aatf |
G |
A |
11: 84,402,335 (GRCm39) |
S117L |
possibly damaging |
Het |
Abca12 |
C |
A |
1: 71,342,046 (GRCm39) |
V972L |
probably benign |
Het |
Abcb11 |
T |
A |
2: 69,117,162 (GRCm39) |
R495S |
probably damaging |
Het |
Acss2 |
T |
A |
2: 155,403,086 (GRCm39) |
H621Q |
probably benign |
Het |
Akap9 |
T |
C |
5: 4,096,736 (GRCm39) |
L2537P |
probably benign |
Het |
Apbb1 |
C |
T |
7: 105,208,509 (GRCm39) |
A597T |
probably damaging |
Het |
Cacna1d |
A |
T |
14: 29,797,809 (GRCm39) |
I1448N |
probably damaging |
Het |
Cacna1e |
C |
T |
1: 154,288,863 (GRCm39) |
E1841K |
probably damaging |
Het |
Ccdc162 |
G |
T |
10: 41,463,371 (GRCm39) |
P1457Q |
probably damaging |
Het |
Cep70 |
A |
G |
9: 99,163,145 (GRCm39) |
K331E |
probably damaging |
Het |
Cplane1 |
C |
A |
15: 8,273,310 (GRCm39) |
Q2534K |
possibly damaging |
Het |
Cstpp1 |
A |
T |
2: 91,135,188 (GRCm39) |
|
probably null |
Het |
D430041D05Rik |
A |
T |
2: 104,087,504 (GRCm39) |
Y491N |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,002,703 (GRCm39) |
I3898V |
probably benign |
Het |
Drd2 |
A |
G |
9: 49,316,277 (GRCm39) |
T346A |
probably benign |
Het |
Efcab9 |
T |
C |
11: 32,472,941 (GRCm39) |
T169A |
possibly damaging |
Het |
Fam163a |
A |
T |
1: 155,955,729 (GRCm39) |
I21N |
probably damaging |
Het |
Fam171a2 |
C |
T |
11: 102,329,389 (GRCm39) |
D457N |
probably benign |
Het |
Fbn1 |
A |
T |
2: 125,321,200 (GRCm39) |
|
probably null |
Het |
Gpr37 |
A |
T |
6: 25,689,049 (GRCm39) |
L16H |
probably damaging |
Het |
Idh1 |
G |
T |
1: 65,198,649 (GRCm39) |
A407D |
probably benign |
Het |
Ifna12 |
A |
G |
4: 88,521,415 (GRCm39) |
M44T |
probably damaging |
Het |
Il22ra1 |
A |
G |
4: 135,461,561 (GRCm39) |
M109V |
probably benign |
Het |
Jag2 |
A |
T |
12: 112,879,089 (GRCm39) |
|
probably null |
Het |
Lca5l |
T |
C |
16: 95,960,761 (GRCm39) |
D572G |
unknown |
Het |
Lcn11 |
G |
A |
2: 25,667,830 (GRCm39) |
V73I |
probably benign |
Het |
Lrba |
A |
G |
3: 86,352,704 (GRCm39) |
T1951A |
probably damaging |
Het |
Ltbp2 |
A |
G |
12: 84,860,012 (GRCm39) |
|
probably null |
Het |
Malrd1 |
G |
A |
2: 15,802,610 (GRCm39) |
|
probably null |
Het |
Morc2b |
C |
A |
17: 33,356,218 (GRCm39) |
G518V |
probably benign |
Het |
Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
Myo5b |
A |
T |
18: 74,767,630 (GRCm39) |
T313S |
probably benign |
Het |
Neto2 |
C |
A |
8: 86,396,329 (GRCm39) |
L140F |
probably damaging |
Het |
Nlgn1 |
C |
T |
3: 25,488,467 (GRCm39) |
V623I |
probably damaging |
Het |
Optc |
A |
G |
1: 133,834,730 (GRCm39) |
S15P |
possibly damaging |
Het |
Or1e25 |
C |
T |
11: 73,494,332 (GRCm39) |
Q309* |
probably null |
Het |
Or1l4b |
A |
G |
2: 37,036,858 (GRCm39) |
I211M |
possibly damaging |
Het |
Or52e19b |
C |
A |
7: 103,032,945 (GRCm39) |
W88L |
probably damaging |
Het |
Or7c19 |
T |
A |
8: 85,957,427 (GRCm39) |
M101K |
possibly damaging |
Het |
Or9k2 |
T |
G |
10: 129,998,698 (GRCm39) |
T166P |
probably damaging |
Het |
Otogl |
A |
G |
10: 107,705,407 (GRCm39) |
V640A |
probably damaging |
Het |
Pcdhgb2 |
T |
C |
18: 37,823,023 (GRCm39) |
S5P |
probably benign |
Het |
Pde3a |
A |
T |
6: 141,404,975 (GRCm39) |
E400V |
probably benign |
Het |
Pkhd1l1 |
A |
G |
15: 44,449,804 (GRCm39) |
I3856V |
possibly damaging |
Het |
Pld2 |
G |
A |
11: 70,443,695 (GRCm39) |
|
probably null |
Het |
Plxna4 |
G |
T |
6: 32,129,807 (GRCm39) |
H1839N |
probably damaging |
Het |
Ppp6r2 |
T |
C |
15: 89,140,904 (GRCm39) |
V89A |
probably benign |
Het |
Rapgef3 |
T |
C |
15: 97,655,627 (GRCm39) |
D420G |
probably damaging |
Het |
Rnf17 |
T |
A |
14: 56,699,529 (GRCm39) |
|
probably null |
Het |
Rps6ka2 |
T |
A |
17: 7,544,848 (GRCm39) |
|
probably null |
Het |
Rptn |
A |
T |
3: 93,303,228 (GRCm39) |
D187V |
probably damaging |
Het |
Rtn1 |
T |
C |
12: 72,355,203 (GRCm39) |
K248E |
probably damaging |
Het |
Rtn4rl1 |
A |
T |
11: 75,155,871 (GRCm39) |
H101L |
probably benign |
Het |
Septin3 |
A |
G |
15: 82,174,974 (GRCm39) |
N305S |
probably benign |
Het |
Serpina3f |
G |
T |
12: 104,183,565 (GRCm39) |
K142N |
possibly damaging |
Het |
Ssh1 |
C |
A |
5: 114,104,295 (GRCm39) |
R116L |
probably benign |
Het |
Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
Tlr6 |
T |
C |
5: 65,111,693 (GRCm39) |
K405E |
possibly damaging |
Het |
Trbv13-2 |
G |
A |
6: 41,098,634 (GRCm39) |
A70T |
probably benign |
Het |
Ttn |
A |
T |
2: 76,618,540 (GRCm39) |
I16248N |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,655,849 (GRCm39) |
|
probably null |
Het |
Vldlr |
A |
T |
19: 27,195,015 (GRCm39) |
M1L |
probably benign |
Het |
Wscd1 |
A |
G |
11: 71,675,191 (GRCm39) |
H366R |
probably damaging |
Het |
Zbtb8a |
A |
G |
4: 129,251,496 (GRCm39) |
|
probably null |
Het |
Zfp827 |
T |
C |
8: 79,916,958 (GRCm39) |
V511A |
|
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 |
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 |
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'- ATACTCCAGAGTGAACAATCTAGAC -3'
(R):5'- TGTCTGGTCCTAAGAGTCCC -3'
Sequencing Primer
(F):5'- GTATAGTGTCTCCAAATACCTTGCAC -3'
(R):5'- TGGTCCTAAGAGTCCCAAGGTG -3'
|
Posted On |
2019-11-26 |