Incidental Mutation 'R0227:Gtf3a'
| ID |
33990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf3a
|
| Ensembl Gene |
ENSMUSG00000016503 |
| Gene Name |
general transcription factor III A |
| Synonyms |
2610111I01Rik, 2010015D03Rik, 5330403M05Rik |
| MMRRC Submission |
038472-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.938)
|
| Stock # |
R0227 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
146885467-146892424 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 146892199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 317
(R317S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016654]
[ENSMUST00000066675]
[ENSMUST00000110564]
[ENSMUST00000110566]
[ENSMUST00000125217]
[ENSMUST00000132102]
[ENSMUST00000146511]
[ENSMUST00000140526]
|
| AlphaFold |
Q8VHT7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016654
|
| SMART Domains |
Protein: ENSMUSP00000016654
Gene: ENSMUSG00000016510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF3_N
|
70 |
144 |
5e-16 |
PFAM |
|
Pfam:IF3_C
|
152 |
240 |
1.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066675
|
| SMART Domains |
Protein: ENSMUSP00000063398
Gene: ENSMUSG00000016510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF3_N
|
73 |
144 |
2.1e-13 |
PFAM |
|
Pfam:IF3_C
|
153 |
238 |
2e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110564
|
| SMART Domains |
Protein: ENSMUSP00000106193
Gene: ENSMUSG00000016510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF3_N
|
70 |
144 |
5e-16 |
PFAM |
|
Pfam:IF3_C
|
152 |
240 |
1.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110566
|
| SMART Domains |
Protein: ENSMUSP00000106195
Gene: ENSMUSG00000016510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF3_N
|
70 |
144 |
5e-16 |
PFAM |
|
Pfam:IF3_C
|
152 |
240 |
1.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125217
|
| SMART Domains |
Protein: ENSMUSP00000120283
Gene: ENSMUSG00000016510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF3_N
|
70 |
113 |
1.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132102
|
| SMART Domains |
Protein: ENSMUSP00000115824
Gene: ENSMUSG00000016503
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
38 |
62 |
1.86e0 |
SMART |
|
ZnF_C2H2
|
68 |
92 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
98 |
123 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
130 |
154 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
160 |
184 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
187 |
211 |
8.09e-1 |
SMART |
|
ZnF_C2H2
|
215 |
237 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
244 |
269 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
275 |
299 |
2.09e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133296
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146511
AA Change: R317S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119607
Gene: ENSMUSG00000016503
AA Change: R317S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
38 |
62 |
1.86e0 |
SMART |
|
ZnF_C2H2
|
68 |
92 |
6.32e-3 |
SMART |
|
ZnF_C2H2
|
98 |
123 |
1.38e-3 |
SMART |
|
ZnF_C2H2
|
130 |
154 |
1.33e-1 |
SMART |
|
ZnF_C2H2
|
160 |
184 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
187 |
211 |
8.09e-1 |
SMART |
|
ZnF_C2H2
|
215 |
237 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
244 |
269 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
275 |
299 |
2.09e-3 |
SMART |
|
low complexity region
|
338 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133682
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140526
|
| SMART Domains |
Protein: ENSMUSP00000120064
Gene: ENSMUSG00000016510
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IF3_N
|
70 |
109 |
6.9e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.5%
|
| Validation Efficiency |
86% (37/43) |
| MGI Phenotype |
FUNCTION: The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5S genes called the internal control region (ICR), and nucleates formation of a stable preinitiation complex. This complex recruits the TFIIIC and TFIIIB transcription factors and RNA polymerase III to form the complete transcription complex. The protein is thought to be translated using a non-AUG translation initiation site in mammals based on sequence analysis, protein homology, and the size of the purified protein. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430038I01Rik |
A |
T |
7: 136,989,438 (GRCm39) |
|
probably benign |
Het |
| Ankrd12 |
T |
A |
17: 66,294,222 (GRCm39) |
T404S |
probably benign |
Het |
| Ap4m1 |
T |
C |
5: 138,174,538 (GRCm39) |
|
probably benign |
Het |
| Atn1 |
A |
T |
6: 124,723,893 (GRCm39) |
|
probably benign |
Het |
| Bcl9l |
A |
G |
9: 44,416,533 (GRCm39) |
Y202C |
possibly damaging |
Het |
| Ceacam18 |
G |
T |
7: 43,288,815 (GRCm39) |
G189C |
probably damaging |
Het |
| Cfap65 |
C |
T |
1: 74,971,117 (GRCm39) |
W67* |
probably null |
Het |
| Col2a1 |
C |
T |
15: 97,874,636 (GRCm39) |
E1334K |
unknown |
Het |
| Crim1 |
A |
G |
17: 78,651,938 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,441,836 (GRCm39) |
S343P |
probably benign |
Het |
| D430041D05Rik |
G |
T |
2: 104,035,545 (GRCm39) |
D1594E |
possibly damaging |
Het |
| Ess2 |
C |
T |
16: 17,720,135 (GRCm39) |
V406I |
probably damaging |
Het |
| Gcm2 |
C |
T |
13: 41,259,332 (GRCm39) |
V46M |
probably damaging |
Het |
| Gm3486 |
A |
T |
14: 41,206,518 (GRCm39) |
V185E |
probably benign |
Het |
| Ice2 |
A |
G |
9: 69,319,510 (GRCm39) |
I320V |
probably benign |
Het |
| Jag1 |
A |
G |
2: 136,957,538 (GRCm39) |
V58A |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,293,184 (GRCm39) |
E1241G |
probably benign |
Het |
| Mogat2 |
T |
A |
7: 98,872,339 (GRCm39) |
I171F |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
A |
T |
11: 75,549,520 (GRCm39) |
Y201F |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,796,806 (GRCm39) |
I884V |
probably damaging |
Het |
| Nudt9 |
T |
C |
5: 104,209,541 (GRCm39) |
I264T |
possibly damaging |
Het |
| Or8g30 |
A |
G |
9: 39,229,974 (GRCm39) |
V312A |
probably benign |
Het |
| Pdcd11 |
AGAGGAGGAGGAGGAGGAGGAGGAG |
AGAGGAGGAGGAGGAGGAGGAG |
19: 47,101,876 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
T |
C |
5: 130,219,831 (GRCm39) |
V98A |
probably damaging |
Het |
| Raly |
A |
G |
2: 154,707,841 (GRCm39) |
D287G |
probably damaging |
Het |
| Raph1 |
A |
G |
1: 60,565,136 (GRCm39) |
V117A |
probably benign |
Het |
| Slc34a2 |
T |
C |
5: 53,226,968 (GRCm39) |
F697S |
possibly damaging |
Het |
| Son |
T |
A |
16: 91,453,761 (GRCm39) |
M836K |
probably damaging |
Het |
| Spock1 |
T |
C |
13: 57,588,290 (GRCm39) |
M258V |
possibly damaging |
Het |
| Stk10 |
G |
T |
11: 32,567,859 (GRCm39) |
C887F |
probably damaging |
Het |
| Synpo2 |
A |
G |
3: 122,907,442 (GRCm39) |
S625P |
probably benign |
Het |
| Synrg |
T |
A |
11: 83,900,258 (GRCm39) |
D821E |
probably damaging |
Het |
| Tafa5 |
T |
C |
15: 87,604,691 (GRCm39) |
|
probably benign |
Het |
| Tg |
C |
A |
15: 66,570,295 (GRCm39) |
A1389E |
possibly damaging |
Het |
| Tspan33 |
G |
A |
6: 29,713,477 (GRCm39) |
V134M |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,158,960 (GRCm39) |
F2438L |
probably benign |
Het |
| Vmn1r210 |
C |
T |
13: 23,011,561 (GRCm39) |
V242I |
probably benign |
Het |
| Vmn1r63 |
C |
T |
7: 5,805,741 (GRCm39) |
W297* |
probably null |
Het |
| Vmn2r92 |
C |
T |
17: 18,388,219 (GRCm39) |
A408V |
probably damaging |
Het |
| Zic5 |
A |
G |
14: 122,697,073 (GRCm39) |
I514T |
unknown |
Het |
|
| Other mutations in Gtf3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03096:Gtf3a
|
APN |
5 |
146,890,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03404:Gtf3a
|
APN |
5 |
146,887,449 (GRCm39) |
splice site |
probably null |
|
|
R0365:Gtf3a
|
UTSW |
5 |
146,885,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0480:Gtf3a
|
UTSW |
5 |
146,890,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1697:Gtf3a
|
UTSW |
5 |
146,888,723 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2171:Gtf3a
|
UTSW |
5 |
146,892,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3917:Gtf3a
|
UTSW |
5 |
146,892,244 (GRCm39) |
missense |
probably benign |
0.26 |
|
R4867:Gtf3a
|
UTSW |
5 |
146,888,723 (GRCm39) |
nonsense |
probably null |
|
|
R5081:Gtf3a
|
UTSW |
5 |
146,888,092 (GRCm39) |
missense |
probably benign |
0.36 |
|
R5268:Gtf3a
|
UTSW |
5 |
146,891,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Gtf3a
|
UTSW |
5 |
146,892,338 (GRCm39) |
unclassified |
probably benign |
|
|
R6376:Gtf3a
|
UTSW |
5 |
146,890,798 (GRCm39) |
splice site |
probably null |
|
|
R7151:Gtf3a
|
UTSW |
5 |
146,888,085 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8855:Gtf3a
|
UTSW |
5 |
146,885,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Gtf3a
|
UTSW |
5 |
146,888,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCACACTGGACCACTGCATC -3'
(R):5'- CACTTTGAGCAAAGACGACGACG -3'
Sequencing Primer
(F):5'- aaccaaacccgtgtcctc -3'
(R):5'- GTCAGTGACTTTAATAGGAAAAGTGC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation