Incidental Mutation 'PIT4469001:Ell2'
ID |
555837 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4469001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
75855603-75920480 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 75910011 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 252
(N252K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000001583
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001583]
[ENSMUST00000220572]
[ENSMUST00000222194]
[ENSMUST00000222853]
|
AlphaFold |
Q3UKU1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000001583
AA Change: N252K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000001583 Gene: ENSMUSG00000001542 AA Change: N252K
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 |
probably benign
Transcript: ENSMUST00000222194
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222853
AA Change: N120K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
|
Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.7%
- 10x: 84.4%
- 20x: 71.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A630001G21Rik |
A |
G |
1: 85,652,920 (GRCm39) |
F83L |
probably benign |
Het |
Acsm2 |
T |
A |
7: 119,177,408 (GRCm39) |
C308S |
possibly damaging |
Het |
Ak3 |
A |
G |
19: 29,025,157 (GRCm39) |
S25P |
probably damaging |
Het |
Atp13a2 |
T |
A |
4: 140,721,438 (GRCm39) |
V176E |
unknown |
Het |
Bmper |
A |
T |
9: 23,317,845 (GRCm39) |
H488L |
probably benign |
Het |
Cacna1c |
A |
T |
6: 118,572,933 (GRCm39) |
C2084S |
unknown |
Het |
Ccp110 |
T |
A |
7: 118,321,600 (GRCm39) |
N418K |
probably benign |
Het |
Ddx17 |
C |
A |
15: 79,428,014 (GRCm39) |
G32C |
probably damaging |
Het |
Dennd2b |
G |
A |
7: 109,130,337 (GRCm39) |
A888V |
probably damaging |
Het |
Dusp16 |
G |
A |
6: 134,738,115 (GRCm39) |
|
probably benign |
Het |
Efl1 |
T |
G |
7: 82,307,373 (GRCm39) |
F90V |
probably benign |
Het |
Gdf6 |
T |
C |
4: 9,859,569 (GRCm39) |
V217A |
probably damaging |
Het |
H1f4 |
A |
T |
13: 23,806,362 (GRCm39) |
V40E |
probably damaging |
Het |
Hint1 |
T |
A |
11: 54,760,896 (GRCm39) |
S112T |
unknown |
Het |
Kif5c |
T |
C |
2: 49,631,360 (GRCm39) |
V679A |
probably benign |
Het |
Lrrn3 |
A |
T |
12: 41,503,017 (GRCm39) |
D433E |
probably benign |
Het |
Mast4 |
G |
A |
13: 102,941,226 (GRCm39) |
T277M |
probably damaging |
Het |
Naa11 |
A |
G |
5: 97,539,485 (GRCm39) |
|
probably null |
Het |
Pcdh18 |
T |
A |
3: 49,709,518 (GRCm39) |
H599L |
probably benign |
Het |
Pgc |
A |
T |
17: 48,039,680 (GRCm39) |
K25* |
probably null |
Het |
Pramel58 |
T |
A |
5: 94,830,652 (GRCm39) |
V50E |
probably damaging |
Het |
Psd4 |
G |
A |
2: 24,284,306 (GRCm39) |
D57N |
probably benign |
Het |
Pxdn |
G |
A |
12: 30,055,828 (GRCm39) |
R1238Q |
probably benign |
Het |
Smim41 |
T |
C |
15: 101,191,152 (GRCm39) |
V6A |
probably benign |
Het |
Spata32 |
T |
C |
11: 103,100,653 (GRCm39) |
N38S |
probably benign |
Het |
Tpr |
A |
G |
1: 150,279,707 (GRCm39) |
T279A |
probably benign |
Het |
Unc13a |
C |
A |
8: 72,110,958 (GRCm39) |
E418* |
probably null |
Het |
Vmn2r97 |
C |
A |
17: 19,149,878 (GRCm39) |
T422K |
probably benign |
Het |
Zfp474 |
A |
T |
18: 52,771,791 (GRCm39) |
Q148L |
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 |
|
IGL01446:Ell2
|
APN |
13 |
75,910,110 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTAAACATATGAAGCAACCTGA -3'
(R):5'- CTCGTTTCCACCTCAACAGTCAA -3'
Sequencing Primer
(F):5'- CTTTATGCACACATGTAGCAGAGG -3'
(R):5'- GTCAAACAACACTTATTTGCACC -3'
|
Posted On |
2019-06-07 |