Incidental Mutation 'IGL02154:Gtf2e2'
ID |
282176 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gtf2e2
|
Ensembl Gene |
ENSMUSG00000031585 |
Gene Name |
general transcription factor II E, polypeptide 2 (beta subunit) |
Synonyms |
C330006J08Rik, 34kDa |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02154
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
34221942-34267201 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 34245989 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141016
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167264]
[ENSMUST00000170705]
[ENSMUST00000171010]
[ENSMUST00000187392]
[ENSMUST00000190639]
|
AlphaFold |
Q9D902 |
Predicted Effect |
probably null
Transcript: ENSMUST00000167264
|
SMART Domains |
Protein: ENSMUSP00000129834 Gene: ENSMUSG00000031585
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
45 |
N/A |
INTRINSIC |
Pfam:TFIIE_beta
|
75 |
146 |
2.3e-27 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000170705
|
SMART Domains |
Protein: ENSMUSP00000126284 Gene: ENSMUSG00000031585
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
45 |
N/A |
INTRINSIC |
Pfam:TFIIE_beta
|
73 |
146 |
1.7e-27 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000171010
|
SMART Domains |
Protein: ENSMUSP00000132287 Gene: ENSMUSG00000031585
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
45 |
N/A |
INTRINSIC |
Pfam:TFIIE_beta
|
73 |
146 |
1.7e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187392
|
SMART Domains |
Protein: ENSMUSP00000141167 Gene: ENSMUSG00000031585
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
45 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000190639
|
SMART Domains |
Protein: ENSMUSP00000141016 Gene: ENSMUSG00000031585
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
45 |
N/A |
INTRINSIC |
Pfam:TFIIE_beta
|
73 |
127 |
2.5e-16 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The general transcription factor IIE (TFIIE) is part of the RNA polymerase II transcription initiation complex, recruiting TFIIH and being essential for promoter clearance by RNA polymerase II. TFIIE is a heterodimer (and sometimes heterotetramer) of alpha and beta subunits. The protein encoded by this gene represents the beta subunit of TFIIE. [provided by RefSeq, Jan 2017]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
Armh4 |
G |
A |
14: 50,010,399 (GRCm39) |
T436I |
possibly damaging |
Het |
AW551984 |
G |
A |
9: 39,500,398 (GRCm39) |
R787C |
possibly damaging |
Het |
Cadm1 |
A |
T |
9: 47,725,201 (GRCm39) |
I321L |
probably benign |
Het |
Cfap57 |
A |
G |
4: 118,470,214 (GRCm39) |
L222P |
probably damaging |
Het |
Cox20 |
A |
G |
1: 178,150,119 (GRCm39) |
I98V |
probably benign |
Het |
Dmrta1 |
A |
G |
4: 89,580,150 (GRCm39) |
N370S |
probably benign |
Het |
Dnah17 |
A |
G |
11: 118,015,087 (GRCm39) |
F386L |
probably benign |
Het |
Fam135b |
T |
C |
15: 71,320,559 (GRCm39) |
I1323V |
probably benign |
Het |
Fndc3b |
A |
G |
3: 27,592,266 (GRCm39) |
S211P |
probably damaging |
Het |
Galnt10 |
T |
G |
11: 57,675,531 (GRCm39) |
L597V |
probably damaging |
Het |
Inpp4b |
T |
A |
8: 82,696,130 (GRCm39) |
|
probably benign |
Het |
Irag2 |
T |
G |
6: 145,083,967 (GRCm39) |
M44R |
possibly damaging |
Het |
Lacc1 |
A |
G |
14: 77,270,727 (GRCm39) |
V269A |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,740,395 (GRCm39) |
D3750G |
probably benign |
Het |
Mme |
A |
T |
3: 63,250,976 (GRCm39) |
Q339L |
probably benign |
Het |
Mmp3 |
A |
T |
9: 7,453,662 (GRCm39) |
I428L |
probably benign |
Het |
Myrf |
A |
T |
19: 10,193,482 (GRCm39) |
I558N |
probably damaging |
Het |
Or52e8 |
C |
T |
7: 104,625,188 (GRCm39) |
M1I |
probably null |
Het |
Phb1 |
A |
G |
11: 95,565,997 (GRCm39) |
I94V |
possibly damaging |
Het |
Prg4 |
T |
A |
1: 150,330,613 (GRCm39) |
|
probably benign |
Het |
Sirpb1a |
T |
C |
3: 15,475,504 (GRCm39) |
T344A |
probably damaging |
Het |
Skap2 |
T |
C |
6: 51,989,308 (GRCm39) |
|
probably benign |
Het |
Slc29a1 |
A |
G |
17: 45,897,089 (GRCm39) |
I399T |
probably damaging |
Het |
Sorl1 |
C |
T |
9: 41,915,330 (GRCm39) |
V1300I |
probably benign |
Het |
Tas2r117 |
T |
C |
6: 132,780,678 (GRCm39) |
V272A |
probably benign |
Het |
Tctn2 |
C |
A |
5: 124,746,624 (GRCm39) |
|
noncoding transcript |
Het |
Tmem51 |
T |
C |
4: 141,759,089 (GRCm39) |
N220D |
probably damaging |
Het |
Trak2 |
T |
C |
1: 58,947,888 (GRCm39) |
D584G |
probably damaging |
Het |
Vmn1r78 |
A |
G |
7: 11,886,472 (GRCm39) |
I28V |
probably benign |
Het |
Vmn2r95 |
A |
C |
17: 18,672,248 (GRCm39) |
I662L |
probably benign |
Het |
Vwa8 |
C |
A |
14: 79,086,733 (GRCm39) |
R4S |
possibly damaging |
Het |
|
Other mutations in Gtf2e2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00227:Gtf2e2
|
APN |
8 |
34,266,473 (GRCm39) |
splice site |
probably benign |
|
IGL03213:Gtf2e2
|
APN |
8 |
34,242,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R0383:Gtf2e2
|
UTSW |
8 |
34,245,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R4012:Gtf2e2
|
UTSW |
8 |
34,245,993 (GRCm39) |
splice site |
probably benign |
|
R4429:Gtf2e2
|
UTSW |
8 |
34,242,521 (GRCm39) |
nonsense |
probably null |
|
R5987:Gtf2e2
|
UTSW |
8 |
34,266,081 (GRCm39) |
missense |
probably benign |
0.34 |
R5987:Gtf2e2
|
UTSW |
8 |
34,266,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R6337:Gtf2e2
|
UTSW |
8 |
34,266,043 (GRCm39) |
nonsense |
probably null |
|
R6949:Gtf2e2
|
UTSW |
8 |
34,248,726 (GRCm39) |
missense |
probably damaging |
1.00 |
R7607:Gtf2e2
|
UTSW |
8 |
34,266,493 (GRCm39) |
missense |
probably benign |
0.28 |
R8532:Gtf2e2
|
UTSW |
8 |
34,248,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R9570:Gtf2e2
|
UTSW |
8 |
34,252,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |