Incidental Mutation 'IGL01510:Gtf2a1'
| ID |
89183 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gtf2a1
|
| Ensembl Gene |
ENSMUSG00000020962 |
| Gene Name |
general transcription factor II A, 1 |
| Synonyms |
37kDa, 6330549H03Rik, Tfiia1, TfIIAa/b, 19kDa |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01510
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
91522036-91557261 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91534607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 216
(S216P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021345
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021345]
[ENSMUST00000063314]
|
| AlphaFold |
Q99PM3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021345
AA Change: S216P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000021345
Gene: ENSMUSG00000020962
AA Change: S216P
| Domain | Start | End | E-Value | Type |
|---|
|
TFIIA
|
12 |
378 |
5.47e-146 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063314
AA Change: S177P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068562
Gene: ENSMUSG00000020962
AA Change: S177P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TFIIA
|
1 |
339 |
9.3e-68 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and several general initiation factors (summarized by DeJong and Roeder, 1993 [PubMed 8224848]). One of these factors is TFIIA, which when purified from HeLa extracts consists of 35-, 19-, and 12-kD subunits.[supplied by OMIM, Jul 2010]
PHENOTYPE: Mice homozygous for a hypomorphic allele where D/G cleavage residues are replaced with noncleavable A/A show neonatal lethality, feeding defects, low testis weight, and male infertility associated with azoospermia, small seminiferous tubules, lack of elongating spermatids, and increased apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,143,979 (GRCm39) |
Q6R |
probably damaging |
Het |
| Adam5 |
A |
T |
8: 25,294,481 (GRCm39) |
C373S |
probably damaging |
Het |
| Adgre4 |
T |
C |
17: 56,125,760 (GRCm39) |
|
probably null |
Het |
| Akap10 |
A |
T |
11: 61,768,846 (GRCm39) |
M614K |
possibly damaging |
Het |
| Amigo2 |
T |
C |
15: 97,142,962 (GRCm39) |
T487A |
probably benign |
Het |
| Asap1 |
T |
C |
15: 64,030,777 (GRCm39) |
D300G |
probably damaging |
Het |
| Atp4a |
C |
A |
7: 30,420,216 (GRCm39) |
L788M |
probably benign |
Het |
| Bcl3 |
T |
A |
7: 19,543,539 (GRCm39) |
H309L |
probably damaging |
Het |
| Cblc |
T |
C |
7: 19,519,200 (GRCm39) |
N376S |
probably benign |
Het |
| Cd200r2 |
A |
T |
16: 44,729,674 (GRCm39) |
I110L |
probably benign |
Het |
| Ceacam3 |
T |
C |
7: 16,893,767 (GRCm39) |
M426T |
probably benign |
Het |
| Cep295 |
G |
A |
9: 15,265,922 (GRCm39) |
R29* |
probably null |
Het |
| Ces1a |
G |
T |
8: 93,771,726 (GRCm39) |
P24T |
probably damaging |
Het |
| Ctps1 |
G |
T |
4: 120,416,041 (GRCm39) |
T194K |
probably damaging |
Het |
| Cul3 |
A |
G |
1: 80,260,396 (GRCm39) |
S318P |
probably damaging |
Het |
| Fasl |
A |
T |
1: 161,609,522 (GRCm39) |
S155T |
possibly damaging |
Het |
| Gldc |
C |
T |
19: 30,091,121 (GRCm39) |
|
probably null |
Het |
| Gpr21 |
T |
A |
2: 37,408,433 (GRCm39) |
C326* |
probably null |
Het |
| Hoxb5 |
A |
T |
11: 96,194,818 (GRCm39) |
S127C |
possibly damaging |
Het |
| Htt |
A |
T |
5: 35,064,856 (GRCm39) |
Q3023L |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,055,700 (GRCm39) |
H855L |
possibly damaging |
Het |
| Lars1 |
T |
C |
18: 42,375,174 (GRCm39) |
I289V |
probably benign |
Het |
| Lrig3 |
C |
A |
10: 125,844,567 (GRCm39) |
T677K |
probably damaging |
Het |
| Mapk7 |
A |
T |
11: 61,381,986 (GRCm39) |
W309R |
probably damaging |
Het |
| Mmp12 |
A |
G |
9: 7,358,307 (GRCm39) |
T468A |
possibly damaging |
Het |
| Muc5b |
A |
T |
7: 141,412,798 (GRCm39) |
N1915Y |
unknown |
Het |
| Naprt |
A |
G |
15: 75,762,837 (GRCm39) |
|
probably benign |
Het |
| Nfatc1 |
T |
C |
18: 80,741,403 (GRCm39) |
Y199C |
probably damaging |
Het |
| Or7e166 |
A |
T |
9: 19,624,575 (GRCm39) |
I151F |
probably benign |
Het |
| Or8g51 |
T |
C |
9: 38,609,201 (GRCm39) |
I158V |
probably benign |
Het |
| Phip |
T |
A |
9: 82,795,924 (GRCm39) |
I566F |
probably benign |
Het |
| Pnpla3 |
T |
A |
15: 84,055,273 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
C |
T |
5: 103,710,166 (GRCm39) |
T1567I |
probably damaging |
Het |
| Ptpn20 |
A |
G |
14: 33,360,343 (GRCm39) |
|
probably null |
Het |
| Ptprq |
G |
T |
10: 107,547,909 (GRCm39) |
T163K |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,955,794 (GRCm39) |
C415R |
probably damaging |
Het |
| Slco4c1 |
A |
G |
1: 96,795,678 (GRCm39) |
S127P |
probably damaging |
Het |
| Tcerg1l |
A |
T |
7: 137,996,034 (GRCm39) |
|
probably benign |
Het |
| Thbd |
C |
T |
2: 148,248,894 (GRCm39) |
V325M |
probably damaging |
Het |
| Trim37 |
G |
A |
11: 87,068,686 (GRCm39) |
R344H |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,703,109 (GRCm39) |
|
probably benign |
Het |
| Uvrag |
G |
A |
7: 98,653,796 (GRCm39) |
Q65* |
probably null |
Het |
| Wrap53 |
G |
A |
11: 69,453,566 (GRCm39) |
S342L |
possibly damaging |
Het |
| Zbtb11 |
T |
G |
16: 55,810,706 (GRCm39) |
V288G |
probably damaging |
Het |
|
| Other mutations in Gtf2a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02561:Gtf2a1
|
APN |
12 |
91,542,527 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03035:Gtf2a1
|
APN |
12 |
91,539,411 (GRCm39) |
splice site |
probably benign |
|
|
PIT4618001:Gtf2a1
|
UTSW |
12 |
91,534,543 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0436:Gtf2a1
|
UTSW |
12 |
91,535,047 (GRCm39) |
splice site |
probably null |
|
|
R1595:Gtf2a1
|
UTSW |
12 |
91,556,323 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2240:Gtf2a1
|
UTSW |
12 |
91,553,513 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4020:Gtf2a1
|
UTSW |
12 |
91,539,351 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4043:Gtf2a1
|
UTSW |
12 |
91,542,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4044:Gtf2a1
|
UTSW |
12 |
91,542,441 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4095:Gtf2a1
|
UTSW |
12 |
91,542,411 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4584:Gtf2a1
|
UTSW |
12 |
91,529,700 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4585:Gtf2a1
|
UTSW |
12 |
91,529,700 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4952:Gtf2a1
|
UTSW |
12 |
91,542,523 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5465:Gtf2a1
|
UTSW |
12 |
91,534,565 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5566:Gtf2a1
|
UTSW |
12 |
91,534,368 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7055:Gtf2a1
|
UTSW |
12 |
91,553,523 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7220:Gtf2a1
|
UTSW |
12 |
91,534,498 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7282:Gtf2a1
|
UTSW |
12 |
91,534,609 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7459:Gtf2a1
|
UTSW |
12 |
91,542,426 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7484:Gtf2a1
|
UTSW |
12 |
91,529,747 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9292:Gtf2a1
|
UTSW |
12 |
91,534,964 (GRCm39) |
nonsense |
probably null |
|
|
R9372:Gtf2a1
|
UTSW |
12 |
91,534,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Gtf2a1
|
UTSW |
12 |
91,539,386 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Posted On |
2013-12-03 |
Incidental Mutation