Incidental Mutation 'IGL02561:Gtf2a1'
ID |
298663 |
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 # |
IGL02561
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
91522036-91557261 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 91542527 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 57
(D57E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021345
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021345]
[ENSMUST00000063314]
|
AlphaFold |
Q99PM3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021345
AA Change: D57E
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000021345 Gene: ENSMUSG00000020962 AA Change: D57E
Domain | Start | End | E-Value | Type |
TFIIA
|
12 |
378 |
5.47e-146 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000063314
AA Change: D18E
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000068562 Gene: ENSMUSG00000020962 AA Change: D18E
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
T |
A |
5: 105,125,536 (GRCm39) |
Q49L |
probably benign |
Het |
Aifm2 |
A |
G |
10: 61,561,786 (GRCm39) |
D44G |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,228,366 (GRCm39) |
T2241A |
probably benign |
Het |
Cntn4 |
C |
T |
6: 106,500,470 (GRCm39) |
P316S |
probably damaging |
Het |
Ctnna2 |
G |
T |
6: 77,822,563 (GRCm39) |
S13R |
probably benign |
Het |
Cyb5a |
G |
A |
18: 84,889,637 (GRCm39) |
G46D |
probably damaging |
Het |
Daam1 |
T |
C |
12: 71,993,290 (GRCm39) |
V353A |
unknown |
Het |
Ddx6 |
C |
T |
9: 44,545,465 (GRCm39) |
T417I |
probably damaging |
Het |
Fcgbp |
C |
T |
7: 27,800,599 (GRCm39) |
|
probably benign |
Het |
Gdi2 |
T |
C |
13: 3,598,954 (GRCm39) |
I46T |
possibly damaging |
Het |
Gm3629 |
T |
C |
14: 17,805,586 (GRCm39) |
|
probably benign |
Het |
Grap2 |
A |
T |
15: 80,532,049 (GRCm39) |
|
probably benign |
Het |
Gsto2 |
T |
C |
19: 47,874,629 (GRCm39) |
|
probably benign |
Het |
Hif1a |
A |
G |
12: 73,988,980 (GRCm39) |
I622M |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,685,477 (GRCm39) |
T328A |
probably benign |
Het |
Ighv1-54 |
T |
C |
12: 115,157,389 (GRCm39) |
K86R |
probably benign |
Het |
Igkv4-55 |
C |
T |
6: 69,584,360 (GRCm39) |
S84N |
probably damaging |
Het |
Ilvbl |
T |
C |
10: 78,412,978 (GRCm39) |
S167P |
probably benign |
Het |
Kcnn2 |
A |
G |
18: 45,725,259 (GRCm39) |
I252V |
possibly damaging |
Het |
Lss |
T |
C |
10: 76,376,264 (GRCm39) |
|
probably benign |
Het |
Mlip |
C |
A |
9: 77,088,633 (GRCm39) |
|
probably null |
Het |
Ncbp1 |
C |
T |
4: 46,159,711 (GRCm39) |
T408M |
possibly damaging |
Het |
Notch4 |
A |
G |
17: 34,787,134 (GRCm39) |
|
probably benign |
Het |
Npepps |
A |
T |
11: 97,120,675 (GRCm39) |
C528* |
probably null |
Het |
Nxf2 |
T |
C |
X: 133,857,201 (GRCm39) |
T163A |
probably benign |
Het |
Or4c119 |
T |
C |
2: 88,987,485 (GRCm39) |
I11M |
possibly damaging |
Het |
Phka1 |
A |
T |
X: 101,641,895 (GRCm39) |
|
probably benign |
Het |
Ptpn13 |
T |
G |
5: 103,710,157 (GRCm39) |
L1564R |
probably damaging |
Het |
Robo3 |
A |
G |
9: 37,338,387 (GRCm39) |
S343P |
possibly damaging |
Het |
Smarca2 |
A |
G |
19: 26,693,582 (GRCm39) |
D1262G |
possibly damaging |
Het |
Spns1 |
C |
T |
7: 125,972,941 (GRCm39) |
|
probably null |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Ttpal |
A |
G |
2: 163,449,369 (GRCm39) |
T75A |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,301,652 (GRCm39) |
T359A |
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
Zic2 |
A |
T |
14: 122,715,957 (GRCm39) |
K360* |
probably null |
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 |
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 |
2015-04-16 |