Incidental Mutation 'PIT4618001:Gtf2a1'
ID |
555705 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4618001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
91522036-91557261 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 91534543 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 237
(V237G)
|
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: V237G
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000021345 Gene: ENSMUSG00000020962 AA Change: V237G
Domain | Start | End | E-Value | Type |
TFIIA
|
12 |
378 |
5.47e-146 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000063314
AA Change: V198G
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000068562 Gene: ENSMUSG00000020962 AA Change: V198G
Domain | Start | End | E-Value | Type |
Pfam:TFIIA
|
1 |
339 |
9.3e-68 |
PFAM |
|
Coding Region Coverage |
- 1x: 93.4%
- 3x: 91.0%
- 10x: 85.9%
- 20x: 75.2%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
A |
T |
5: 107,693,575 (GRCm39) |
D64V |
probably damaging |
Het |
Ankdd1a |
A |
C |
9: 65,414,932 (GRCm39) |
I268S |
possibly damaging |
Het |
Atad3a |
C |
T |
4: 155,834,595 (GRCm39) |
R402Q |
probably benign |
Het |
C3ar1 |
A |
G |
6: 122,827,746 (GRCm39) |
V157A |
probably benign |
Het |
Cd200l1 |
A |
G |
16: 45,264,297 (GRCm39) |
F87S |
probably benign |
Het |
Cd55 |
C |
T |
1: 130,384,606 (GRCm39) |
V206I |
probably benign |
Het |
Cd8a |
A |
G |
6: 71,350,661 (GRCm39) |
D42G |
possibly damaging |
Het |
Cemip |
G |
T |
7: 83,593,147 (GRCm39) |
F1185L |
probably benign |
Het |
Cfap58 |
A |
G |
19: 47,963,953 (GRCm39) |
D527G |
probably damaging |
Het |
Cyp2a12 |
C |
A |
7: 26,734,198 (GRCm39) |
S377Y |
probably benign |
Het |
Dapk2 |
A |
G |
9: 66,175,968 (GRCm39) |
D289G |
probably benign |
Het |
Efcab6 |
G |
A |
15: 83,867,647 (GRCm39) |
A277V |
probably benign |
Het |
Ephx2 |
A |
T |
14: 66,339,671 (GRCm39) |
F250L |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,111,088 (GRCm39) |
S1039C |
unknown |
Het |
Gramd1a |
A |
G |
7: 30,832,021 (GRCm39) |
V674A |
probably benign |
Het |
I830077J02Rik |
G |
A |
3: 105,833,886 (GRCm39) |
T90M |
probably damaging |
Het |
Jagn1 |
T |
A |
6: 113,424,398 (GRCm39) |
L90H |
probably damaging |
Het |
Mdn1 |
G |
T |
4: 32,746,527 (GRCm39) |
A4158S |
probably benign |
Het |
Myh11 |
G |
A |
16: 14,018,930 (GRCm39) |
A1839V |
|
Het |
Olr1 |
G |
A |
6: 129,476,869 (GRCm39) |
A132V |
probably damaging |
Het |
Paqr3 |
A |
T |
5: 97,251,330 (GRCm39) |
H131Q |
possibly damaging |
Het |
Pde4b |
A |
T |
4: 102,460,009 (GRCm39) |
T397S |
probably benign |
Het |
Pon1 |
A |
G |
6: 5,168,349 (GRCm39) |
C353R |
probably damaging |
Het |
Ppie |
G |
A |
4: 123,032,661 (GRCm39) |
T43I |
probably null |
Het |
Prr5l |
A |
G |
2: 101,588,875 (GRCm39) |
F92L |
probably damaging |
Het |
Rai14 |
T |
C |
15: 10,575,242 (GRCm39) |
Y601C |
probably damaging |
Het |
Rasal1 |
A |
G |
5: 120,808,441 (GRCm39) |
D491G |
probably damaging |
Het |
Rbm12b1 |
T |
A |
4: 12,145,441 (GRCm39) |
V471E |
probably damaging |
Het |
Rpusd2 |
T |
C |
2: 118,868,933 (GRCm39) |
L452P |
possibly damaging |
Het |
Scgb2b24 |
A |
T |
7: 33,438,036 (GRCm39) |
C24S |
probably damaging |
Het |
Slc17a5 |
C |
T |
9: 78,445,530 (GRCm39) |
V468M |
possibly damaging |
Het |
Tcp10c |
A |
G |
17: 13,576,772 (GRCm39) |
K117R |
possibly damaging |
Het |
Ubash3b |
A |
G |
9: 40,927,923 (GRCm39) |
S584P |
probably benign |
Het |
Vps13b |
C |
T |
15: 35,709,386 (GRCm39) |
R1778C |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,967,665 (GRCm39) |
I220M |
probably benign |
Het |
Zfp474 |
C |
A |
18: 52,771,476 (GRCm39) |
T43K |
probably damaging |
Het |
Zscan4-ps3 |
G |
A |
7: 11,347,261 (GRCm39) |
M432I |
probably benign |
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 |
IGL03035:Gtf2a1
|
APN |
12 |
91,539,411 (GRCm39) |
splice site |
probably benign |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATAGAAACTTACTTCTTCCACCTGC -3'
(R):5'- TAGGTGTGCAGCAGTCAGAAAC -3'
Sequencing Primer
(F):5'- CACCTGCCCATCTTCAGC -3'
(R):5'- TGCAGCAGTCAGAAACAATTGTACTG -3'
|
Posted On |
2019-06-07 |