Incidental Mutation 'R5357:Eloa'
| ID |
501119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eloa
|
| Ensembl Gene |
ENSMUSG00000028668 |
| Gene Name |
elongin A |
| Synonyms |
Tceb3 |
| MMRRC Submission |
042936-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5357 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
135730681-135748960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135736559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 563
(D563G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030427]
|
| AlphaFold |
Q8CB77 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030427
AA Change: D563G
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000030427
Gene: ENSMUSG00000028668
AA Change: D563G
| 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 |
- 1x: 98.9%
- 3x: 97.4%
- 10x: 94.5%
- 20x: 87.7%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
C |
4: 137,182,463 (GRCm39) |
V206A |
possibly damaging |
Het |
| 5730522E02Rik |
A |
T |
11: 25,598,148 (GRCm39) |
C102* |
probably null |
Het |
| Brsk2 |
C |
A |
7: 141,538,248 (GRCm39) |
D131E |
possibly damaging |
Het |
| Cacng7 |
T |
C |
7: 3,387,452 (GRCm39) |
F112L |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,811,384 (GRCm39) |
C282* |
probably null |
Het |
| Dnm1 |
T |
C |
2: 32,226,253 (GRCm39) |
D312G |
probably null |
Het |
| Dyrk1b |
T |
C |
7: 27,884,743 (GRCm39) |
V326A |
possibly damaging |
Het |
| Evi5l |
A |
G |
8: 4,253,623 (GRCm39) |
K489R |
possibly damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Galntl6 |
T |
C |
8: 58,337,497 (GRCm39) |
E326G |
probably damaging |
Het |
| Gm1758 |
G |
A |
16: 14,320,218 (GRCm39) |
|
noncoding transcript |
Het |
| Grm8 |
A |
T |
6: 27,762,418 (GRCm39) |
L269Q |
probably damaging |
Het |
| Hsd17b12 |
A |
G |
2: 93,863,990 (GRCm39) |
I284T |
possibly damaging |
Het |
| Hyal6 |
T |
A |
6: 24,734,517 (GRCm39) |
M150K |
probably benign |
Het |
| Ift80 |
T |
A |
3: 68,898,113 (GRCm39) |
Q74L |
possibly damaging |
Het |
| Krt76 |
T |
C |
15: 101,795,820 (GRCm39) |
K450R |
probably benign |
Het |
| Larp1b |
A |
G |
3: 40,978,950 (GRCm39) |
E2G |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Map2k7 |
A |
T |
8: 4,294,461 (GRCm39) |
H253L |
probably damaging |
Het |
| Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
| Mmp2 |
A |
G |
8: 93,559,780 (GRCm39) |
T248A |
possibly damaging |
Het |
| Mt1 |
T |
A |
8: 94,906,732 (GRCm39) |
C33S |
probably damaging |
Het |
| Obox5 |
T |
A |
7: 15,491,463 (GRCm39) |
M1K |
probably null |
Het |
| Pak4 |
A |
G |
7: 28,263,831 (GRCm39) |
S302P |
probably damaging |
Het |
| Pcsk2 |
T |
C |
2: 143,415,384 (GRCm39) |
Y66H |
probably benign |
Het |
| Pgm3 |
G |
A |
9: 86,438,310 (GRCm39) |
R451* |
probably null |
Het |
| Phf10 |
A |
T |
17: 15,174,275 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
T |
G |
17: 24,784,764 (GRCm39) |
V402G |
probably damaging |
Het |
| Plekha4 |
G |
T |
7: 45,184,195 (GRCm39) |
V61F |
probably damaging |
Het |
| Ppfia2 |
G |
A |
10: 106,740,708 (GRCm39) |
|
probably null |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Skil |
A |
G |
3: 31,167,700 (GRCm39) |
H444R |
probably benign |
Het |
| Tcn2 |
T |
G |
11: 3,876,017 (GRCm39) |
D137A |
possibly damaging |
Het |
| Tnks2 |
G |
A |
19: 36,826,690 (GRCm39) |
|
silent |
Het |
| Trh |
T |
A |
6: 92,219,815 (GRCm39) |
D167V |
probably benign |
Het |
| Tshz1 |
C |
T |
18: 84,033,205 (GRCm39) |
G401D |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubqlnl |
T |
A |
7: 103,798,138 (GRCm39) |
Q453L |
probably damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,767,083 (GRCm39) |
K805* |
probably null |
Het |
| Wnt16 |
T |
G |
6: 22,291,231 (GRCm39) |
|
probably benign |
Het |
| Zc3h11a |
A |
T |
1: 133,550,780 (GRCm39) |
V665E |
probably damaging |
Het |
| Zfp456 |
A |
T |
13: 67,520,328 (GRCm39) |
M63K |
possibly damaging |
Het |
| Zzef1 |
C |
T |
11: 72,734,159 (GRCm39) |
Q584* |
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 |
|
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATTGCATTCCTCTATCCGGTAG -3'
(R):5'- CACCATGTAGTGTAGACCTTTTGTG -3'
Sequencing Primer
(F):5'- CTATCCGGTAGAGCTGATCAGG -3'
(R):5'- AGACCTTTTGTGACTTGGCTTTC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation