Incidental Mutation 'R0581:Gtf3c2'
| ID |
56417 |
| 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 |
038771-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.636)
|
| Stock # |
R0581 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31313350-31337488 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 31316862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 720
(Y720*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144489
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088010]
[ENSMUST00000101411]
[ENSMUST00000202639]
|
| AlphaFold |
Q8BL74 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043161
AA Change: Y720*
|
| SMART Domains |
Protein: ENSMUSP00000047210
Gene: ENSMUSG00000029144
AA Change: Y720*
| 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
AA Change: Y677*
|
| SMART Domains |
Protein: ENSMUSP00000085325
Gene: ENSMUSG00000106864
AA Change: Y677*
| 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
AA Change: Y677*
|
| SMART Domains |
Protein: ENSMUSP00000098957
Gene: ENSMUSG00000101678
AA Change: Y677*
| 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
AA Change: Y720*
|
| SMART Domains |
Protein: ENSMUSP00000144489
Gene: ENSMUSG00000106864
AA Change: Y720*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.3%
- 20x: 93.7%
|
| Validation Efficiency |
95% (42/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
G |
5: 4,100,620 (GRCm39) |
T2761A |
probably benign |
Het |
| Apold1 |
G |
A |
6: 134,960,776 (GRCm39) |
V77I |
probably benign |
Het |
| Atad2 |
T |
C |
15: 57,990,060 (GRCm39) |
T139A |
probably benign |
Het |
| Cacna1a |
A |
T |
8: 85,328,565 (GRCm39) |
I1668F |
possibly damaging |
Het |
| Ccer2 |
T |
A |
7: 28,456,451 (GRCm39) |
|
probably benign |
Het |
| Cyp2c54 |
T |
A |
19: 40,035,999 (GRCm39) |
T304S |
probably benign |
Het |
| Dpp4 |
T |
A |
2: 62,187,020 (GRCm39) |
M497L |
probably benign |
Het |
| Evpl |
T |
A |
11: 116,120,316 (GRCm39) |
I541L |
probably benign |
Het |
| Ggn |
A |
G |
7: 28,871,729 (GRCm39) |
T370A |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,418,116 (GRCm39) |
|
probably benign |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr68 |
G |
C |
12: 100,844,815 (GRCm39) |
P243R |
probably damaging |
Het |
| Il2rb |
T |
A |
15: 78,366,136 (GRCm39) |
Y387F |
possibly damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,427,529 (GRCm39) |
V282E |
probably damaging |
Het |
| Krt222 |
G |
A |
11: 99,127,018 (GRCm39) |
Q201* |
probably null |
Het |
| Lats1 |
A |
G |
10: 7,578,705 (GRCm39) |
T610A |
possibly damaging |
Het |
| Mroh2a |
GT |
GTT |
1: 88,183,888 (GRCm39) |
|
probably null |
Het |
| Myh7 |
T |
C |
14: 55,222,953 (GRCm39) |
I751V |
probably benign |
Het |
| Mypn |
A |
G |
10: 62,998,023 (GRCm39) |
I429T |
probably benign |
Het |
| Nemf |
A |
T |
12: 69,369,045 (GRCm39) |
D723E |
probably benign |
Het |
| Nlrp4b |
T |
C |
7: 10,448,457 (GRCm39) |
L220P |
probably damaging |
Het |
| Npr3 |
T |
A |
15: 11,851,536 (GRCm39) |
D418V |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 26,200,718 (GRCm39) |
N1270S |
probably damaging |
Het |
| Or1j15 |
T |
C |
2: 36,458,834 (GRCm39) |
S75P |
probably damaging |
Het |
| Or2g1 |
A |
G |
17: 38,106,993 (GRCm39) |
I219M |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,624,901 (GRCm39) |
T1579I |
possibly damaging |
Het |
| Pkp2 |
T |
A |
16: 16,087,647 (GRCm39) |
|
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,173,598 (GRCm39) |
Y301C |
probably damaging |
Het |
| Psmb4 |
T |
C |
3: 94,793,479 (GRCm39) |
H134R |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,334,881 (GRCm39) |
T1043A |
probably benign |
Het |
| Sec14l5 |
T |
A |
16: 4,996,349 (GRCm39) |
|
probably null |
Het |
| Serpina12 |
T |
A |
12: 103,997,399 (GRCm39) |
Q374L |
probably damaging |
Het |
| Serpinb10 |
C |
T |
1: 107,474,692 (GRCm39) |
R362* |
probably null |
Het |
| Sorcs1 |
T |
A |
19: 50,241,139 (GRCm39) |
I416F |
possibly damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,241,178 (GRCm39) |
D82G |
probably damaging |
Het |
| Stat6 |
A |
T |
10: 127,483,985 (GRCm39) |
Q89L |
probably damaging |
Het |
| Tat |
A |
G |
8: 110,718,270 (GRCm39) |
T52A |
possibly damaging |
Het |
| Yipf7 |
T |
A |
5: 69,678,406 (GRCm39) |
I128F |
probably benign |
Het |
| Zfp112 |
T |
A |
7: 23,825,288 (GRCm39) |
C419S |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,742,726 (GRCm39) |
I769V |
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 |
|
|
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'- TACTGTCCCAAGCCAGTCTGAACC -3'
(R):5'- GGCTCAAGACAACTGTTATGCCTCG -3'
Sequencing Primer
(F):5'- AGTCTGAACCTGAAAGACTCTTC -3'
(R):5'- TGTCAGATTGTGGGGAAAGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation