Incidental Mutation 'IGL01666:Ell'
ID |
103302 |
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 # |
IGL01666
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
70992345-71045508 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71038463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 400
(H400R)
|
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: H400R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000091163 Gene: ENSMUSG00000070002 AA Change: H400R
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
C |
A |
1: 25,499,832 (GRCm39) |
A664S |
probably damaging |
Het |
Ankrd61 |
T |
A |
5: 143,827,954 (GRCm39) |
L297F |
probably damaging |
Het |
Chrnd |
A |
T |
1: 87,126,458 (GRCm39) |
S513C |
possibly damaging |
Het |
Col24a1 |
G |
A |
3: 145,050,447 (GRCm39) |
V645M |
possibly damaging |
Het |
Csn3 |
T |
C |
5: 88,078,016 (GRCm39) |
V174A |
unknown |
Het |
D630039A03Rik |
C |
T |
4: 57,910,570 (GRCm39) |
V81I |
possibly damaging |
Het |
Deptor |
G |
A |
15: 55,012,775 (GRCm39) |
R54Q |
probably damaging |
Het |
Fcgbpl1 |
G |
A |
7: 27,852,717 (GRCm39) |
V1335M |
probably damaging |
Het |
Itga2 |
A |
G |
13: 114,973,627 (GRCm39) |
|
probably null |
Het |
Itpr3 |
A |
G |
17: 27,336,152 (GRCm39) |
I2293V |
probably benign |
Het |
Matcap2 |
A |
G |
9: 22,342,994 (GRCm39) |
D163G |
probably benign |
Het |
Mmut |
T |
C |
17: 41,269,702 (GRCm39) |
L687P |
probably damaging |
Het |
Mrps27 |
A |
G |
13: 99,546,324 (GRCm39) |
E241G |
probably damaging |
Het |
Myh9 |
C |
T |
15: 77,646,131 (GRCm39) |
A1951T |
probably benign |
Het |
Oca2 |
G |
A |
7: 55,964,559 (GRCm39) |
|
probably null |
Het |
Or2n1c |
C |
T |
17: 38,519,780 (GRCm39) |
L215F |
probably benign |
Het |
Or6d15 |
T |
A |
6: 116,559,296 (GRCm39) |
I204F |
possibly damaging |
Het |
Ptgdr2 |
T |
C |
19: 10,918,274 (GRCm39) |
F264L |
probably benign |
Het |
Ptpn23 |
T |
C |
9: 110,215,613 (GRCm39) |
T1384A |
possibly damaging |
Het |
Rasgrf2 |
A |
T |
13: 92,174,718 (GRCm39) |
D170E |
probably damaging |
Het |
Rnf20 |
C |
T |
4: 49,654,486 (GRCm39) |
Q848* |
probably null |
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 |
IGL01738:Ell
|
APN |
8 |
71,034,331 (GRCm39) |
unclassified |
probably benign |
|
IGL02032:Ell
|
APN |
8 |
71,038,651 (GRCm39) |
missense |
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 |
2014-01-21 |