Incidental Mutation 'R4206:Ell2'
| ID |
318934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ell2
|
| Ensembl Gene |
ENSMUSG00000001542 |
| Gene Name |
elongation factor for RNA polymerase II 2 |
| Synonyms |
|
| MMRRC Submission |
041035-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4206 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
75855603-75920480 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 75910067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 139
(D139G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001583]
[ENSMUST00000220572]
[ENSMUST00000222194]
[ENSMUST00000222853]
|
| AlphaFold |
Q3UKU1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001583
AA Change: D271G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001583
Gene: ENSMUSG00000001542
AA Change: D271G
| 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 damaging
Transcript: ENSMUST00000222853
AA Change: D139G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000222892
AA Change: D131G
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,315,435 (GRCm39) |
K81R |
probably benign |
Het |
| Acacb |
T |
C |
5: 114,351,712 (GRCm39) |
F1150L |
probably benign |
Het |
| Acat3 |
A |
G |
17: 13,146,273 (GRCm39) |
Y237H |
possibly damaging |
Het |
| Arfgap3 |
T |
C |
15: 83,206,869 (GRCm39) |
T240A |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,590,675 (GRCm39) |
S23G |
possibly damaging |
Het |
| Cemip2 |
G |
T |
19: 21,819,479 (GRCm39) |
R1090L |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,506,636 (GRCm39) |
N949S |
probably damaging |
Het |
| Csrp1 |
T |
G |
1: 135,673,065 (GRCm39) |
C61G |
probably damaging |
Het |
| Dgka |
A |
T |
10: 128,557,064 (GRCm39) |
L637Q |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,251,328 (GRCm39) |
R1801H |
probably damaging |
Het |
| Edil3 |
T |
C |
13: 89,328,397 (GRCm39) |
S284P |
probably damaging |
Het |
| Eif2d |
A |
G |
1: 131,082,100 (GRCm39) |
Y64C |
probably damaging |
Het |
| Fam187a |
A |
G |
11: 102,777,038 (GRCm39) |
R281G |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,720,145 (GRCm39) |
D380G |
possibly damaging |
Het |
| Gpr149 |
T |
G |
3: 62,511,924 (GRCm39) |
D25A |
possibly damaging |
Het |
| Gyg1 |
A |
G |
3: 20,206,901 (GRCm39) |
S90P |
probably benign |
Het |
| Hpx |
C |
T |
7: 105,244,354 (GRCm39) |
M190I |
probably null |
Het |
| Irf2bpl |
C |
T |
12: 86,929,810 (GRCm39) |
V288I |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,810,574 (GRCm39) |
H748R |
probably benign |
Het |
| Mmrn1 |
G |
A |
6: 60,935,164 (GRCm39) |
G220D |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,299,999 (GRCm39) |
M333K |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,370,847 (GRCm39) |
S2556F |
possibly damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Ntsr1 |
A |
G |
2: 180,142,545 (GRCm39) |
D112G |
probably damaging |
Het |
| Or56b1 |
T |
A |
7: 104,285,356 (GRCm39) |
N158K |
possibly damaging |
Het |
| Or7a42 |
T |
C |
10: 78,791,117 (GRCm39) |
F26S |
probably benign |
Het |
| Or9s14 |
A |
C |
1: 92,536,317 (GRCm39) |
T253P |
possibly damaging |
Het |
| Parg |
A |
G |
14: 31,976,493 (GRCm39) |
K178R |
probably benign |
Het |
| Pde8b |
C |
A |
13: 95,359,053 (GRCm39) |
C90F |
probably benign |
Het |
| Pld1 |
G |
A |
3: 28,174,932 (GRCm39) |
V857I |
probably benign |
Het |
| Rad54l2 |
A |
C |
9: 106,594,994 (GRCm39) |
V321G |
probably damaging |
Het |
| Rcn2 |
A |
G |
9: 55,952,491 (GRCm39) |
Y112C |
possibly damaging |
Het |
| Rnf123 |
A |
T |
9: 107,941,162 (GRCm39) |
D639E |
probably benign |
Het |
| Rufy2 |
C |
T |
10: 62,840,551 (GRCm39) |
Q441* |
probably null |
Het |
| Scgb2b12 |
T |
C |
7: 32,026,063 (GRCm39) |
Y43C |
probably damaging |
Het |
| Scrn3 |
T |
A |
2: 73,149,845 (GRCm39) |
|
probably null |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,585,597 (GRCm39) |
S321P |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tex2 |
A |
G |
11: 106,458,398 (GRCm39) |
|
probably benign |
Het |
| Trip13 |
A |
G |
13: 74,081,009 (GRCm39) |
I119T |
probably benign |
Het |
| Tsku |
C |
T |
7: 98,002,205 (GRCm39) |
R42H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,602,911 (GRCm39) |
I16691T |
possibly damaging |
Het |
| Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
| Ubxn2b |
T |
C |
4: 6,204,565 (GRCm39) |
V142A |
probably damaging |
Het |
| Uggt2 |
C |
T |
14: 119,286,674 (GRCm39) |
D221N |
probably damaging |
Het |
| Wnt4 |
A |
G |
4: 137,023,654 (GRCm39) |
K207R |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,121,267 (GRCm39) |
R107G |
probably 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 |
|
|
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 |
|
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'- TGTTAAGGTAAACATATGAAGCAACC -3'
(R):5'- TTGTCTAAGTAATAAAGAGGACTCTGA -3'
Sequencing Primer
(F):5'- CTTTATGCACACATGTAGCAGAGG -3'
(R):5'- GAGGACTCTGAAATACACATAACAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation