Incidental Mutation 'R5868:Gtf3c2'
| ID |
454267 |
| 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 |
044076-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.578)
|
| Stock # |
R5868 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31313350-31337488 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 31325425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 455
(F455V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088010]
[ENSMUST00000101411]
[ENSMUST00000200871]
[ENSMUST00000202639]
|
| AlphaFold |
Q8BL74 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088010
AA Change: F455V
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: F455V
| 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: F455V
PolyPhen 2
Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678
AA Change: F455V
| 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 |
noncoding transcript
Transcript: ENSMUST00000201087
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202218
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202254
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202639
AA Change: F498V
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: F498V
| 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
|
| Meta Mutation Damage Score |
0.0860 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.2%
- 20x: 90.8%
|
| Validation Efficiency |
95% (58/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
C |
A |
11: 69,788,401 (GRCm39) |
K394N |
possibly damaging |
Het |
| Adamts18 |
T |
A |
8: 114,504,380 (GRCm39) |
Q80L |
possibly damaging |
Het |
| Apbb2 |
T |
A |
5: 66,609,439 (GRCm39) |
K69N |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| BC035947 |
T |
A |
1: 78,474,960 (GRCm39) |
N524I |
probably damaging |
Het |
| Bpifa1 |
A |
G |
2: 153,985,796 (GRCm39) |
N37S |
unknown |
Het |
| Cfap91 |
T |
A |
16: 38,152,604 (GRCm39) |
D202V |
probably damaging |
Het |
| Crnkl1 |
A |
T |
2: 145,760,473 (GRCm39) |
D648E |
probably benign |
Het |
| Cul5 |
C |
A |
9: 53,569,973 (GRCm39) |
G86V |
probably benign |
Het |
| Cyfip1 |
A |
C |
7: 55,576,061 (GRCm39) |
D1077A |
probably damaging |
Het |
| Dennd4a |
T |
C |
9: 64,804,011 (GRCm39) |
S1117P |
probably benign |
Het |
| Dnaaf8 |
T |
C |
16: 4,791,932 (GRCm39) |
|
noncoding transcript |
Het |
| Elmo2 |
A |
T |
2: 165,136,192 (GRCm39) |
M618K |
possibly damaging |
Het |
| Fggy |
A |
G |
4: 95,585,225 (GRCm39) |
T35A |
probably damaging |
Het |
| Gad2 |
G |
A |
2: 22,575,079 (GRCm39) |
|
probably null |
Het |
| H4c16 |
C |
T |
6: 136,781,292 (GRCm39) |
G29D |
probably damaging |
Het |
| Hacl1 |
C |
A |
14: 31,341,873 (GRCm39) |
A311S |
probably damaging |
Het |
| Kat6b |
G |
A |
14: 21,684,547 (GRCm39) |
D611N |
probably damaging |
Het |
| Kifap3 |
T |
C |
1: 163,693,041 (GRCm39) |
I611T |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,226,911 (GRCm39) |
Y683C |
probably damaging |
Het |
| Mfsd14a |
T |
C |
3: 116,427,399 (GRCm39) |
N413S |
probably benign |
Het |
| Mtmr11 |
T |
A |
3: 96,078,518 (GRCm39) |
D691E |
possibly damaging |
Het |
| Mzf1 |
A |
T |
7: 12,787,116 (GRCm39) |
F64I |
probably benign |
Het |
| Neu2 |
G |
T |
1: 87,524,478 (GRCm39) |
Q154H |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,663,742 (GRCm39) |
|
probably null |
Het |
| Nod1 |
C |
A |
6: 54,916,312 (GRCm39) |
K128N |
probably damaging |
Het |
| Noxred1 |
T |
A |
12: 87,270,976 (GRCm39) |
Q215L |
possibly damaging |
Het |
| Npat |
A |
G |
9: 53,481,424 (GRCm39) |
E1044G |
probably damaging |
Het |
| Npr1 |
A |
G |
3: 90,366,800 (GRCm39) |
|
probably benign |
Het |
| Pdcd6 |
T |
C |
13: 74,452,133 (GRCm39) |
D169G |
probably damaging |
Het |
| Pld3 |
G |
T |
7: 27,237,093 (GRCm39) |
T262N |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,299,704 (GRCm39) |
|
probably benign |
Het |
| Prh1 |
A |
G |
6: 132,549,174 (GRCm39) |
Q227R |
unknown |
Het |
| Prtg |
C |
A |
9: 72,716,999 (GRCm39) |
Y113* |
probably null |
Het |
| Rbm27 |
T |
A |
18: 42,433,450 (GRCm39) |
V242E |
possibly damaging |
Het |
| Ripor1 |
T |
C |
8: 106,342,636 (GRCm39) |
L198P |
probably damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,410,360 (GRCm39) |
|
probably null |
Het |
| Serpinf2 |
T |
C |
11: 75,324,065 (GRCm39) |
T321A |
probably benign |
Het |
| Sh3gl1 |
T |
C |
17: 56,326,119 (GRCm39) |
D129G |
probably damaging |
Het |
| Slc12a2 |
C |
A |
18: 58,077,068 (GRCm39) |
P1189Q |
probably damaging |
Het |
| Slc16a9 |
T |
C |
10: 70,118,320 (GRCm39) |
M213T |
probably benign |
Het |
| Spata31f3 |
A |
T |
4: 42,871,711 (GRCm39) |
D221E |
probably damaging |
Het |
| Svil |
G |
A |
18: 5,056,854 (GRCm39) |
|
probably null |
Het |
| Synpo |
A |
G |
18: 60,737,118 (GRCm39) |
L37P |
probably damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,718,580 (GRCm39) |
H87R |
probably benign |
Het |
| Tmtc1 |
A |
T |
6: 148,139,353 (GRCm39) |
L885Q |
probably damaging |
Het |
| Ttc41 |
T |
C |
10: 86,586,128 (GRCm39) |
S811P |
possibly damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,689,901 (GRCm39) |
V259A |
probably benign |
Het |
| Wwox |
T |
A |
8: 115,406,586 (GRCm39) |
H192Q |
probably benign |
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 |
|
|
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'- GGTCCCTTAAGACATGACATGG -3'
(R):5'- TCTTGGGACATTGCAGCAAG -3'
Sequencing Primer
(F):5'- CCCTTAAGACATGACATGGGTTTGC -3'
(R):5'- TTGGGACATTGCAGCAAGAAAGC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation