Incidental Mutation 'IGL03404:Gtf3a'
| ID |
421544 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gtf3a
|
| Ensembl Gene |
ENSMUSG00000016503 |
| Gene Name |
general transcription factor III A |
| Synonyms |
2610111I01Rik, 2010015D03Rik, 5330403M05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
IGL03404
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
146885467-146892424 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 146887449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016654]
[ENSMUST00000066675]
[ENSMUST00000110564]
[ENSMUST00000110566]
[ENSMUST00000132102]
[ENSMUST00000146511]
|
| 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 null
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 |
noncoding transcript
Transcript: ENSMUST00000133682
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146511
|
| SMART Domains |
Protein: ENSMUSP00000119607
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 |
|
low complexity region
|
338 |
361 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8 |
T |
G |
17: 32,531,250 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
A |
G |
10: 80,565,871 (GRCm39) |
S99P |
probably damaging |
Het |
| Arhgef1 |
T |
A |
7: 24,616,268 (GRCm39) |
M304K |
probably benign |
Het |
| Arpc5l |
T |
C |
2: 38,903,895 (GRCm39) |
L128P |
probably damaging |
Het |
| Chl1 |
A |
T |
6: 103,670,052 (GRCm39) |
I497F |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,538,200 (GRCm39) |
G616E |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,725,841 (GRCm39) |
E926G |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,876,440 (GRCm39) |
H2391L |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,249,633 (GRCm39) |
D148V |
probably damaging |
Het |
| Glg1 |
A |
T |
8: 111,886,534 (GRCm39) |
M1086K |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,798,864 (GRCm39) |
Y543F |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,296,409 (GRCm39) |
Y3646F |
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,310,492 (GRCm39) |
D425G |
probably damaging |
Het |
| Lipo3 |
A |
C |
19: 33,560,440 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
A |
C |
17: 75,532,301 (GRCm39) |
K443T |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,069,310 (GRCm39) |
I497T |
probably damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,129,459 (GRCm39) |
D842G |
probably benign |
Het |
| Or10j3 |
T |
C |
1: 173,031,766 (GRCm39) |
V281A |
probably benign |
Het |
| Or52s6 |
A |
T |
7: 103,092,195 (GRCm39) |
V45E |
possibly damaging |
Het |
| Or6n1 |
A |
G |
1: 173,917,464 (GRCm39) |
N286S |
probably damaging |
Het |
| Or8k3b |
A |
G |
2: 86,520,372 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
A |
T |
17: 24,783,380 (GRCm39) |
I120L |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 138,020,739 (GRCm39) |
N401S |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,305,436 (GRCm39) |
H923R |
possibly damaging |
Het |
| Rrp8 |
T |
C |
7: 105,384,145 (GRCm39) |
K119R |
probably benign |
Het |
| Setd7 |
A |
T |
3: 51,440,407 (GRCm39) |
Y211* |
probably null |
Het |
| Sfxn5 |
G |
A |
6: 85,276,518 (GRCm39) |
|
probably benign |
Het |
| Sun5 |
T |
C |
2: 153,712,924 (GRCm39) |
|
probably benign |
Het |
| Tnks |
A |
T |
8: 35,407,858 (GRCm39) |
V290D |
probably damaging |
Het |
| Trrap |
C |
T |
5: 144,769,996 (GRCm39) |
P2740L |
probably benign |
Het |
| Ttc23 |
G |
T |
7: 67,328,645 (GRCm39) |
L195F |
probably damaging |
Het |
| Tubb1 |
G |
T |
2: 174,299,241 (GRCm39) |
G308C |
probably damaging |
Het |
| Vmn1r217 |
A |
T |
13: 23,298,810 (GRCm39) |
F31I |
probably benign |
Het |
| Zp1 |
A |
T |
19: 10,891,825 (GRCm39) |
|
probably benign |
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 |
|
R0227:Gtf3a
|
UTSW |
5 |
146,892,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation