Incidental Mutation 'IGL00839:Eloa'
| ID |
14398 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eloa
|
| Ensembl Gene |
ENSMUSG00000028668 |
| Gene Name |
elongin A |
| Synonyms |
Tceb3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00839
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
135730681-135748960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 135738670 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 97
(R97C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030427]
|
| AlphaFold |
Q8CB77 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030427
AA Change: R97C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030427
Gene: ENSMUSG00000028668
AA Change: R97C
| Domain | Start | End | E-Value | Type |
|---|
|
TFS2N
|
7 |
78 |
2.73e-26 |
SMART |
|
low complexity region
|
162 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
490 |
N/A |
INTRINSIC |
|
Pfam:Elongin_A
|
565 |
663 |
7.2e-31 |
PFAM |
|
low complexity region
|
704 |
719 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142289
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the protein elongin A, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele are severely growth retarded, exhibit a wide range of developmental anomalies and die between E10.5 and E12.5, most likely due to massive apoptosis while mutant MEFs show increased apoptosis and senescence-like growth defects. [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 |
|---|
| 3425401B19Rik |
A |
T |
14: 32,382,873 (GRCm39) |
S1031T |
probably benign |
Het |
| a |
T |
A |
2: 154,887,593 (GRCm39) |
F18I |
probably benign |
Het |
| Acsl4 |
A |
T |
X: 141,122,948 (GRCm39) |
N421K |
possibly damaging |
Het |
| Ampd1 |
A |
G |
3: 103,007,010 (GRCm39) |
E745G |
possibly damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,706,594 (GRCm39) |
N436D |
probably benign |
Het |
| Ap1s2 |
A |
G |
X: 162,709,951 (GRCm39) |
Y160C |
probably damaging |
Het |
| Bms1 |
C |
T |
6: 118,382,252 (GRCm39) |
V429M |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,607,089 (GRCm39) |
E158G |
probably damaging |
Het |
| Cldn34b4 |
T |
A |
X: 75,440,955 (GRCm39) |
C71S |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,531,095 (GRCm39) |
|
probably benign |
Het |
| Crisp3 |
T |
G |
17: 40,550,147 (GRCm39) |
|
probably null |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Defa24 |
T |
A |
8: 22,224,713 (GRCm39) |
L54H |
probably damaging |
Het |
| Dennd1a |
A |
G |
2: 37,706,994 (GRCm39) |
V504A |
probably benign |
Het |
| Espl1 |
T |
C |
15: 102,228,982 (GRCm39) |
|
probably benign |
Het |
| Fgb |
T |
A |
3: 82,950,598 (GRCm39) |
R385S |
possibly damaging |
Het |
| Glod4 |
T |
A |
11: 76,124,104 (GRCm39) |
H223L |
probably benign |
Het |
| Hrh1 |
C |
T |
6: 114,457,283 (GRCm39) |
T188I |
probably damaging |
Het |
| Hsph1 |
G |
T |
5: 149,541,919 (GRCm39) |
A769D |
possibly damaging |
Het |
| Jak2 |
C |
T |
19: 29,279,047 (GRCm39) |
P933S |
probably damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,900,017 (GRCm39) |
D107E |
probably benign |
Het |
| Osbpl8 |
T |
A |
10: 111,127,371 (GRCm39) |
S776R |
probably benign |
Het |
| Pcna |
C |
T |
2: 132,093,340 (GRCm39) |
V136I |
probably benign |
Het |
| Pde11a |
A |
G |
2: 76,045,729 (GRCm39) |
F365S |
probably damaging |
Het |
| Pi15 |
A |
G |
1: 17,691,747 (GRCm39) |
H183R |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,687,006 (GRCm39) |
Y638C |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,592,299 (GRCm39) |
D1196G |
probably benign |
Het |
| Pramel26 |
T |
C |
4: 143,539,293 (GRCm39) |
T67A |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,456,893 (GRCm39) |
I220V |
probably benign |
Het |
| Rap1gap2 |
A |
T |
11: 74,328,274 (GRCm39) |
Y97N |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,909,174 (GRCm39) |
C690* |
probably null |
Het |
| Taf3 |
A |
T |
2: 9,957,728 (GRCm39) |
D146E |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,605,011 (GRCm39) |
T49A |
possibly damaging |
Het |
| Trdn |
T |
C |
10: 33,347,602 (GRCm39) |
|
probably null |
Het |
| Ttc29 |
C |
T |
8: 79,060,385 (GRCm39) |
T435I |
probably benign |
Het |
| Vps37b |
T |
C |
5: 124,148,814 (GRCm39) |
T74A |
possibly damaging |
Het |
| Zbtb11 |
T |
A |
16: 55,820,965 (GRCm39) |
Y687* |
probably null |
Het |
|
| Other mutations in Eloa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00726:Eloa
|
APN |
4 |
135,738,076 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01349:Eloa
|
APN |
4 |
135,741,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01475:Eloa
|
APN |
4 |
135,738,231 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02185:Eloa
|
APN |
4 |
135,740,290 (GRCm39) |
splice site |
probably benign |
|
|
IGL03151:Eloa
|
APN |
4 |
135,737,732 (GRCm39) |
nonsense |
probably null |
|
|
R1737:Eloa
|
UTSW |
4 |
135,738,081 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2995:Eloa
|
UTSW |
4 |
135,738,217 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4414:Eloa
|
UTSW |
4 |
135,738,576 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4414:Eloa
|
UTSW |
4 |
135,738,553 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4704:Eloa
|
UTSW |
4 |
135,738,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5357:Eloa
|
UTSW |
4 |
135,736,559 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5437:Eloa
|
UTSW |
4 |
135,740,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6334:Eloa
|
UTSW |
4 |
135,737,133 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6897:Eloa
|
UTSW |
4 |
135,740,220 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7124:Eloa
|
UTSW |
4 |
135,736,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7586:Eloa
|
UTSW |
4 |
135,734,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7689:Eloa
|
UTSW |
4 |
135,736,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8155:Eloa
|
UTSW |
4 |
135,734,438 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8389:Eloa
|
UTSW |
4 |
135,733,622 (GRCm39) |
missense |
probably benign |
|
|
R8487:Eloa
|
UTSW |
4 |
135,736,668 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8548:Eloa
|
UTSW |
4 |
135,732,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8866:Eloa
|
UTSW |
4 |
135,737,538 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9386:Eloa
|
UTSW |
4 |
135,737,847 (GRCm39) |
missense |
probably benign |
|
|
R9427:Eloa
|
UTSW |
4 |
135,748,935 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
| Posted On |
2012-12-06 |
Incidental Mutation