Incidental Mutation 'IGL01400:Ell'
| ID |
79602 |
| 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 # |
IGL01400
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70992345-71045508 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71031563 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 87
(D87G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093454]
[ENSMUST00000210155]
|
| AlphaFold |
O08856 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093454
AA Change: D87G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091163
Gene: ENSMUSG00000070002
AA Change: D87G
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
T |
5: 99,390,960 (GRCm39) |
I133N |
probably damaging |
Het |
| Abl2 |
T |
G |
1: 156,462,754 (GRCm39) |
C510G |
probably damaging |
Het |
| Ambp |
T |
C |
4: 63,070,959 (GRCm39) |
Y40C |
probably damaging |
Het |
| Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,528,454 (GRCm39) |
A311V |
probably damaging |
Het |
| Cass4 |
A |
G |
2: 172,269,220 (GRCm39) |
D434G |
probably damaging |
Het |
| Cep250 |
A |
C |
2: 155,840,211 (GRCm39) |
T2390P |
possibly damaging |
Het |
| Cpm |
C |
A |
10: 117,495,680 (GRCm39) |
N56K |
probably benign |
Het |
| Cspp1 |
T |
C |
1: 10,156,156 (GRCm39) |
L455P |
probably damaging |
Het |
| Dcx |
T |
C |
X: 142,714,150 (GRCm39) |
K51E |
possibly damaging |
Het |
| Ehd3 |
T |
C |
17: 74,135,089 (GRCm39) |
F322L |
probably benign |
Het |
| Epor |
C |
T |
9: 21,870,735 (GRCm39) |
|
probably null |
Het |
| Exosc10 |
T |
G |
4: 148,649,728 (GRCm39) |
M386R |
probably damaging |
Het |
| Gpr152 |
T |
C |
19: 4,193,626 (GRCm39) |
I389T |
probably benign |
Het |
| Gvin3 |
T |
A |
7: 106,201,242 (GRCm39) |
E667D |
probably benign |
Het |
| Kmo |
T |
A |
1: 175,482,661 (GRCm39) |
D328E |
possibly damaging |
Het |
| Llgl1 |
A |
G |
11: 60,597,316 (GRCm39) |
H255R |
probably damaging |
Het |
| Lrch3 |
T |
A |
16: 32,799,911 (GRCm39) |
H416Q |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Mdm1 |
T |
G |
10: 117,993,156 (GRCm39) |
H320Q |
probably damaging |
Het |
| Nol4 |
T |
A |
18: 22,956,555 (GRCm39) |
H209L |
probably damaging |
Het |
| Or5p58 |
A |
T |
7: 107,694,046 (GRCm39) |
C244S |
probably damaging |
Het |
| Pcdhac2 |
T |
C |
18: 37,279,339 (GRCm39) |
V773A |
possibly damaging |
Het |
| Pde3a |
A |
G |
6: 141,404,954 (GRCm39) |
N393S |
probably benign |
Het |
| Pik3r5 |
A |
G |
11: 68,385,373 (GRCm39) |
K700R |
probably benign |
Het |
| Prob1 |
G |
A |
18: 35,786,386 (GRCm39) |
R623C |
possibly damaging |
Het |
| Slc14a2 |
T |
C |
18: 78,235,428 (GRCm39) |
N112D |
probably damaging |
Het |
| Snapc3 |
C |
T |
4: 83,368,414 (GRCm39) |
P304S |
probably damaging |
Het |
| Spin2c |
T |
A |
X: 152,616,621 (GRCm39) |
W145R |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,829,429 (GRCm39) |
E1075G |
probably damaging |
Het |
| Trip12 |
C |
T |
1: 84,729,699 (GRCm39) |
R995Q |
probably damaging |
Het |
| Trpm6 |
T |
A |
19: 18,803,158 (GRCm39) |
L867* |
probably null |
Het |
| Vmn1r87 |
T |
G |
7: 12,866,230 (GRCm39) |
H19P |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,280,273 (GRCm39) |
E139G |
possibly damaging |
Het |
|
| Other mutations in Ell |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01666:Ell
|
APN |
8 |
71,038,463 (GRCm39) |
missense |
probably benign |
|
|
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 |
2013-11-05 |
Incidental Mutation