Incidental Mutation 'IGL01446:Ell2'
ID |
84415 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ell2
|
Ensembl Gene |
ENSMUSG00000001542 |
Gene Name |
elongation factor for RNA polymerase II 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01446
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
75855603-75920480 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 75910110 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 285
(L285F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001583
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001583]
[ENSMUST00000220572]
[ENSMUST00000222194]
[ENSMUST00000222853]
|
AlphaFold |
Q3UKU1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000001583
AA Change: L285F
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000001583 Gene: ENSMUSG00000001542 AA Change: L285F
Domain | Start | End | E-Value | Type |
Pfam:ELL
|
11 |
291 |
2.4e-108 |
PFAM |
low complexity region
|
362 |
401 |
N/A |
INTRINSIC |
low complexity region
|
451 |
476 |
N/A |
INTRINSIC |
Pfam:Occludin_ELL
|
531 |
632 |
2e-35 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220572
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221979
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222194
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222564
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222853
AA Change: L153F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000222892
AA Change: L145F
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
Acaca |
A |
G |
11: 84,151,457 (GRCm39) |
K785R |
probably damaging |
Het |
Acsm3 |
G |
A |
7: 119,377,677 (GRCm39) |
V401M |
probably damaging |
Het |
Aff4 |
G |
T |
11: 53,306,296 (GRCm39) |
R1146L |
probably damaging |
Het |
Alms1 |
C |
A |
6: 85,673,683 (GRCm39) |
P3562T |
probably damaging |
Het |
Arsj |
A |
G |
3: 126,232,463 (GRCm39) |
E403G |
probably benign |
Het |
Baiap2l1 |
C |
T |
5: 144,212,723 (GRCm39) |
V431I |
probably benign |
Het |
Cecr2 |
T |
A |
6: 120,735,560 (GRCm39) |
M904K |
probably benign |
Het |
Cenpe |
A |
T |
3: 134,943,300 (GRCm39) |
T775S |
probably benign |
Het |
Dennd1b |
G |
A |
1: 138,950,848 (GRCm39) |
E30K |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,326,815 (GRCm39) |
D2008G |
probably damaging |
Het |
Dnm2 |
T |
C |
9: 21,392,672 (GRCm39) |
V460A |
probably damaging |
Het |
Erg |
A |
G |
16: 95,162,141 (GRCm39) |
S322P |
probably damaging |
Het |
Extl3 |
A |
G |
14: 65,314,529 (GRCm39) |
F218L |
probably benign |
Het |
Fzd9 |
T |
C |
5: 135,279,420 (GRCm39) |
E155G |
probably damaging |
Het |
Ghr |
A |
G |
15: 3,362,837 (GRCm39) |
W212R |
probably damaging |
Het |
Gulp1 |
A |
G |
1: 44,783,708 (GRCm39) |
|
probably benign |
Het |
Hdgfl2 |
C |
T |
17: 56,404,281 (GRCm39) |
R332C |
possibly damaging |
Het |
Lratd1 |
A |
T |
12: 14,199,929 (GRCm39) |
I266N |
probably damaging |
Het |
Nsd2 |
T |
C |
5: 34,018,530 (GRCm39) |
|
probably benign |
Het |
Or4c12 |
A |
G |
2: 89,774,282 (GRCm39) |
F59S |
probably damaging |
Het |
Or5a3 |
T |
C |
19: 12,400,165 (GRCm39) |
I164T |
possibly damaging |
Het |
Or5b121 |
C |
T |
19: 13,507,616 (GRCm39) |
T237I |
probably benign |
Het |
Phf11b |
A |
C |
14: 59,578,740 (GRCm39) |
S9A |
probably benign |
Het |
Psd4 |
T |
C |
2: 24,295,407 (GRCm39) |
S854P |
probably damaging |
Het |
Reln |
C |
T |
5: 22,174,315 (GRCm39) |
D1963N |
probably damaging |
Het |
Rpe65 |
T |
A |
3: 159,306,042 (GRCm39) |
|
probably benign |
Het |
Sdccag8 |
T |
C |
1: 176,672,811 (GRCm39) |
S235P |
probably damaging |
Het |
Sgip1 |
G |
T |
4: 102,786,110 (GRCm39) |
|
probably null |
Het |
Skint5 |
G |
A |
4: 113,800,019 (GRCm39) |
P36L |
probably damaging |
Het |
Slc26a3 |
G |
T |
12: 31,502,490 (GRCm39) |
|
probably benign |
Het |
Snx13 |
T |
A |
12: 35,174,479 (GRCm39) |
C669* |
probably null |
Het |
Svil |
A |
T |
18: 5,062,385 (GRCm39) |
T902S |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,088,149 (GRCm39) |
S4989P |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,640,283 (GRCm39) |
T13775M |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,165,351 (GRCm39) |
|
probably benign |
Het |
Ush1c |
C |
T |
7: 45,858,380 (GRCm39) |
R636H |
possibly damaging |
Het |
Usp17lc |
A |
T |
7: 103,067,651 (GRCm39) |
R315S |
probably benign |
Het |
Vmn1r236 |
T |
A |
17: 21,506,918 (GRCm39) |
V12D |
probably benign |
Het |
Wsb2 |
T |
G |
5: 117,509,229 (GRCm39) |
I170S |
probably damaging |
Het |
Zfp800 |
G |
A |
6: 28,242,983 (GRCm39) |
L661F |
possibly damaging |
Het |
|
Other mutations in Ell2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00557:Ell2
|
APN |
13 |
75,904,409 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01315:Ell2
|
APN |
13 |
75,910,351 (GRCm39) |
unclassified |
probably benign |
|
IGL02691:Ell2
|
APN |
13 |
75,904,605 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02963:Ell2
|
APN |
13 |
75,917,762 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL03035:Ell2
|
APN |
13 |
75,911,767 (GRCm39) |
nonsense |
probably null |
|
enhancement
|
UTSW |
13 |
75,918,854 (GRCm39) |
missense |
probably damaging |
1.00 |
stilts
|
UTSW |
13 |
75,912,105 (GRCm39) |
nonsense |
probably null |
|
PIT4469001:Ell2
|
UTSW |
13 |
75,910,011 (GRCm39) |
missense |
probably damaging |
0.99 |
R0123:Ell2
|
UTSW |
13 |
75,910,259 (GRCm39) |
splice site |
probably benign |
|
R0321:Ell2
|
UTSW |
13 |
75,910,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R0594:Ell2
|
UTSW |
13 |
75,898,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R0892:Ell2
|
UTSW |
13 |
75,911,758 (GRCm39) |
missense |
probably damaging |
0.97 |
R1078:Ell2
|
UTSW |
13 |
75,894,538 (GRCm39) |
splice site |
probably benign |
|
R1696:Ell2
|
UTSW |
13 |
75,917,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R2325:Ell2
|
UTSW |
13 |
75,917,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R2886:Ell2
|
UTSW |
13 |
75,911,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R3760:Ell2
|
UTSW |
13 |
75,910,281 (GRCm39) |
missense |
probably benign |
0.37 |
R4206:Ell2
|
UTSW |
13 |
75,910,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R4632:Ell2
|
UTSW |
13 |
75,917,693 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5068:Ell2
|
UTSW |
13 |
75,911,737 (GRCm39) |
missense |
probably benign |
0.00 |
R6980:Ell2
|
UTSW |
13 |
75,904,495 (GRCm39) |
missense |
probably null |
|
R6983:Ell2
|
UTSW |
13 |
75,910,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R6984:Ell2
|
UTSW |
13 |
75,910,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R6986:Ell2
|
UTSW |
13 |
75,910,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R7073:Ell2
|
UTSW |
13 |
75,910,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R7074:Ell2
|
UTSW |
13 |
75,910,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R7473:Ell2
|
UTSW |
13 |
75,898,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R7590:Ell2
|
UTSW |
13 |
75,918,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R7901:Ell2
|
UTSW |
13 |
75,912,105 (GRCm39) |
nonsense |
probably null |
|
R8855:Ell2
|
UTSW |
13 |
75,917,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R8866:Ell2
|
UTSW |
13 |
75,917,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R9413:Ell2
|
UTSW |
13 |
75,917,705 (GRCm39) |
missense |
|
|
R9517:Ell2
|
UTSW |
13 |
75,912,106 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9581:Ell2
|
UTSW |
13 |
75,912,148 (GRCm39) |
missense |
probably benign |
0.04 |
RF018:Ell2
|
UTSW |
13 |
75,911,727 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Ell2
|
UTSW |
13 |
75,909,992 (GRCm39) |
critical splice acceptor site |
probably benign |
|
Z1176:Ell2
|
UTSW |
13 |
75,918,808 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Ell2
|
UTSW |
13 |
75,904,571 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-11-11 |