Incidental Mutation 'IGL03035:Gtf2a1'
| ID |
408640 |
| 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 # |
IGL03035
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
91522036-91557261 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 91539411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021345]
[ENSMUST00000063314]
|
| AlphaFold |
Q99PM3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021345
|
| SMART Domains |
Protein: ENSMUSP00000021345
Gene: ENSMUSG00000020962
| Domain | Start | End | E-Value | Type |
|---|
|
TFIIA
|
12 |
378 |
5.47e-146 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063314
|
| SMART Domains |
Protein: ENSMUSP00000068562
Gene: ENSMUSG00000020962
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TFIIA
|
1 |
339 |
9.3e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000116715
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,573,319 (GRCm39) |
L1004P |
probably damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,741,518 (GRCm39) |
I385T |
possibly damaging |
Het |
| Alpk3 |
T |
C |
7: 80,728,352 (GRCm39) |
V494A |
probably benign |
Het |
| Camta2 |
C |
A |
11: 70,562,335 (GRCm39) |
E1021* |
probably null |
Het |
| Ccdc6 |
T |
A |
10: 70,018,006 (GRCm39) |
S334T |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,679,601 (GRCm39) |
V93A |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,711,833 (GRCm39) |
|
probably null |
Het |
| Crip2 |
A |
C |
12: 113,107,745 (GRCm39) |
T103P |
probably benign |
Het |
| Cyp4f14 |
T |
A |
17: 33,133,608 (GRCm39) |
T83S |
probably benign |
Het |
| Dapk1 |
T |
A |
13: 60,864,587 (GRCm39) |
V127D |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,563,277 (GRCm39) |
E609G |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,621,170 (GRCm39) |
I513F |
possibly damaging |
Het |
| Ell2 |
T |
A |
13: 75,911,767 (GRCm39) |
L351* |
probably null |
Het |
| Emcn |
G |
T |
3: 137,078,612 (GRCm39) |
|
probably null |
Het |
| Fdft1 |
A |
T |
14: 63,400,838 (GRCm39) |
C98* |
probably null |
Het |
| Fer1l4 |
A |
G |
2: 155,864,526 (GRCm39) |
S1663P |
possibly damaging |
Het |
| Flt4 |
C |
A |
11: 49,536,724 (GRCm39) |
Y1231* |
probably null |
Het |
| Gatb |
A |
G |
3: 85,509,254 (GRCm39) |
K139E |
probably damaging |
Het |
| Gtf3c2 |
A |
C |
5: 31,323,358 (GRCm39) |
V574G |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,428,100 (GRCm39) |
|
probably benign |
Het |
| Homer2 |
T |
A |
7: 81,274,026 (GRCm39) |
T57S |
possibly damaging |
Het |
| Ice2 |
C |
A |
9: 69,332,970 (GRCm39) |
F825L |
probably benign |
Het |
| Lepr |
C |
A |
4: 101,622,177 (GRCm39) |
L370I |
probably damaging |
Het |
| Nalcn |
G |
A |
14: 123,515,630 (GRCm39) |
Q1724* |
probably null |
Het |
| Nufip1 |
A |
G |
14: 76,353,258 (GRCm39) |
D222G |
probably damaging |
Het |
| Or4f4b |
T |
C |
2: 111,314,168 (GRCm39) |
V159A |
probably benign |
Het |
| Prl3b1 |
A |
G |
13: 27,433,516 (GRCm39) |
|
probably benign |
Het |
| Ptbp3 |
A |
T |
4: 59,477,218 (GRCm39) |
M393K |
probably benign |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 79,001,731 (GRCm39) |
H282L |
probably damaging |
Het |
| Rars2 |
T |
C |
4: 34,656,865 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
G |
A |
11: 119,336,452 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
C |
A |
10: 51,952,080 (GRCm39) |
|
probably benign |
Het |
| Slx4ip |
A |
G |
2: 136,909,623 (GRCm39) |
D206G |
possibly damaging |
Het |
| Sprr1a |
T |
A |
3: 92,391,884 (GRCm39) |
D39V |
probably benign |
Het |
| Stab1 |
A |
G |
14: 30,869,726 (GRCm39) |
V1442A |
probably benign |
Het |
| Tbx3 |
C |
A |
5: 119,821,161 (GRCm39) |
|
probably benign |
Het |
| Ubl3 |
A |
G |
5: 148,442,947 (GRCm39) |
*118Q |
probably null |
Het |
| Vmn2r55 |
G |
A |
7: 12,404,743 (GRCm39) |
S220L |
probably benign |
Het |
| Vps36 |
A |
G |
8: 22,708,431 (GRCm39) |
K362E |
probably benign |
Het |
| Zfp268 |
C |
A |
4: 145,348,802 (GRCm39) |
Q80K |
possibly damaging |
Het |
|
| Other mutations in Gtf2a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01510:Gtf2a1
|
APN |
12 |
91,534,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02561:Gtf2a1
|
APN |
12 |
91,542,527 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
2016-08-02 |
Incidental Mutation