Incidental Mutation 'IGL03151:Eloa'
| ID |
411089 |
| 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 # |
IGL03151
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
135730681-135748960 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 135737732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 409
(Y409*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030427]
|
| AlphaFold |
Q8CB77 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000030427
AA Change: Y409*
|
| SMART Domains |
Protein: ENSMUSP00000030427
Gene: ENSMUSG00000028668
AA Change: Y409*
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
G |
A |
12: 84,061,326 (GRCm39) |
A211T |
probably damaging |
Het |
| Ampd1 |
T |
C |
3: 102,999,786 (GRCm39) |
|
probably null |
Het |
| Armc3 |
T |
G |
2: 19,243,509 (GRCm39) |
L75R |
probably damaging |
Het |
| Atp9b |
T |
C |
18: 80,820,065 (GRCm39) |
D573G |
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,955,934 (GRCm39) |
|
probably null |
Het |
| C1ra |
A |
T |
6: 124,496,730 (GRCm39) |
I389F |
probably benign |
Het |
| Ccdc87 |
T |
A |
19: 4,891,585 (GRCm39) |
N692K |
probably benign |
Het |
| Ccr9 |
A |
G |
9: 123,603,638 (GRCm39) |
|
probably benign |
Het |
| Ces4a |
G |
T |
8: 105,874,829 (GRCm39) |
|
probably null |
Het |
| Dazap1 |
G |
A |
10: 80,116,754 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,103,516 (GRCm39) |
Y45H |
probably damaging |
Het |
| Fam170a |
A |
G |
18: 50,414,708 (GRCm39) |
E118G |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Glra1 |
C |
T |
11: 55,418,206 (GRCm39) |
V180I |
probably damaging |
Het |
| Il17rb |
T |
C |
14: 29,728,810 (GRCm39) |
T28A |
probably benign |
Het |
| Ints9 |
T |
A |
14: 65,269,789 (GRCm39) |
V493E |
possibly damaging |
Het |
| Kcnq5 |
C |
T |
1: 21,605,293 (GRCm39) |
C204Y |
probably damaging |
Het |
| Npc1 |
A |
T |
18: 12,352,332 (GRCm39) |
N122K |
probably benign |
Het |
| Or2b4 |
G |
A |
17: 38,116,159 (GRCm39) |
G41D |
probably damaging |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Prss21 |
A |
G |
17: 24,088,376 (GRCm39) |
T114A |
probably damaging |
Het |
| Prss59 |
A |
G |
6: 40,902,946 (GRCm39) |
F142S |
probably damaging |
Het |
| Rab10 |
G |
A |
12: 3,299,812 (GRCm39) |
T193M |
probably benign |
Het |
| Serpini1 |
T |
A |
3: 75,520,603 (GRCm39) |
S67T |
probably benign |
Het |
| Slc35b1 |
T |
C |
11: 95,281,212 (GRCm39) |
|
probably null |
Het |
| Sorbs2 |
A |
T |
8: 46,252,750 (GRCm39) |
H388L |
probably benign |
Het |
| Tfap2c |
T |
A |
2: 172,399,110 (GRCm39) |
C427* |
probably null |
Het |
| Trappc14 |
A |
G |
5: 138,260,934 (GRCm39) |
L237S |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,632,732 (GRCm39) |
F14107L |
probably damaging |
Het |
| Upf1 |
G |
T |
8: 70,788,037 (GRCm39) |
T774K |
probably damaging |
Het |
| Vmn1r170 |
G |
A |
7: 23,306,002 (GRCm39) |
V135M |
probably benign |
Het |
| Vmn2r14 |
C |
T |
5: 109,364,260 (GRCm39) |
C552Y |
probably damaging |
Het |
| Zfp367 |
A |
G |
13: 64,293,445 (GRCm39) |
I147T |
probably damaging |
Het |
| Zfp952 |
T |
C |
17: 33,221,982 (GRCm39) |
S116P |
probably benign |
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 |
|
IGL00839:Eloa
|
APN |
4 |
135,738,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation