Incidental Mutation 'IGL02032:Ell'
| ID |
184399 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ell
|
| Ensembl Gene |
ENSMUSG00000070002 |
| Gene Name |
elongation factor RNA polymerase II |
| Synonyms |
Men, eleven-nineteen lysine-rich leukemia gene, Ell1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02032
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70992345-71045508 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 71038651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 463
(A463T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093454]
[ENSMUST00000210155]
|
| AlphaFold |
O08856 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093454
AA Change: A463T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091163
Gene: ENSMUSG00000070002
AA Change: A463T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELL
|
6 |
289 |
2.2e-107 |
PFAM |
|
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
471 |
N/A |
INTRINSIC |
|
Pfam:Occludin_ELL
|
494 |
595 |
6.4e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210155
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele die prior to E6.5 but after implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
A |
5: 62,828,340 (GRCm39) |
I944F |
probably damaging |
Het |
| Arhgef1 |
A |
G |
7: 24,622,796 (GRCm39) |
K614R |
probably benign |
Het |
| Cep170b |
T |
C |
12: 112,703,767 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
G |
A |
1: 139,702,284 (GRCm39) |
P67S |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,269,474 (GRCm39) |
Y1491F |
probably benign |
Het |
| Dennd2d |
T |
C |
3: 106,398,543 (GRCm39) |
I176T |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 30,996,326 (GRCm39) |
Y2670C |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,107,769 (GRCm39) |
H833L |
probably damaging |
Het |
| Emsy |
G |
T |
7: 98,239,987 (GRCm39) |
D1089E |
possibly damaging |
Het |
| Erc1 |
T |
G |
6: 119,607,570 (GRCm39) |
K677N |
probably damaging |
Het |
| Exd1 |
T |
G |
2: 119,363,948 (GRCm39) |
Q140P |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,172,714 (GRCm39) |
V284E |
probably benign |
Het |
| Fbxo36 |
A |
G |
1: 84,874,387 (GRCm39) |
|
probably benign |
Het |
| Fig4 |
A |
T |
10: 41,179,002 (GRCm39) |
V16E |
probably benign |
Het |
| H2-M1 |
A |
T |
17: 36,982,768 (GRCm39) |
Y31N |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,665,886 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
A |
G |
13: 49,826,248 (GRCm39) |
T1023A |
probably benign |
Het |
| Or1b1 |
A |
T |
2: 36,994,773 (GRCm39) |
S296R |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,438,117 (GRCm39) |
T141S |
probably benign |
Het |
| Soat1 |
A |
G |
1: 156,268,145 (GRCm39) |
I254T |
probably benign |
Het |
| Spopfm1 |
T |
C |
3: 94,173,640 (GRCm39) |
V212A |
probably damaging |
Het |
| Stat5a |
A |
T |
11: 100,752,654 (GRCm39) |
D79V |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,774,432 (GRCm39) |
T2158N |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,965,017 (GRCm39) |
K287E |
probably benign |
Het |
| Vav1 |
A |
T |
17: 57,604,090 (GRCm39) |
E164V |
possibly damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,476 (GRCm39) |
T408S |
possibly damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,949,466 (GRCm39) |
I629F |
probably damaging |
Het |
|
| Other mutations in Ell |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01400:Ell
|
APN |
8 |
71,031,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01666:Ell
|
APN |
8 |
71,038,463 (GRCm39) |
missense |
probably benign |
|
|
IGL01738:Ell
|
APN |
8 |
71,034,331 (GRCm39) |
unclassified |
probably benign |
|
|
PIT4418001:Ell
|
UTSW |
8 |
71,034,331 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1403:Ell
|
UTSW |
8 |
71,044,138 (GRCm39) |
unclassified |
probably benign |
|
|
R1735:Ell
|
UTSW |
8 |
71,031,590 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4164:Ell
|
UTSW |
8 |
71,034,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Ell
|
UTSW |
8 |
71,031,584 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5028:Ell
|
UTSW |
8 |
71,043,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5350:Ell
|
UTSW |
8 |
70,992,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5590:Ell
|
UTSW |
8 |
70,992,357 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R5615:Ell
|
UTSW |
8 |
71,043,382 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6333:Ell
|
UTSW |
8 |
71,044,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6490:Ell
|
UTSW |
8 |
71,025,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6834:Ell
|
UTSW |
8 |
71,031,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7029:Ell
|
UTSW |
8 |
71,031,879 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7162:Ell
|
UTSW |
8 |
71,031,559 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7477:Ell
|
UTSW |
8 |
71,037,868 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7702:Ell
|
UTSW |
8 |
70,992,364 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8711:Ell
|
UTSW |
8 |
71,034,331 (GRCm39) |
unclassified |
probably benign |
|
|
R9004:Ell
|
UTSW |
8 |
71,031,604 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Ell
|
UTSW |
8 |
71,031,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation