Incidental Mutation 'R2325:Ell2'
| ID |
244894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ell2
|
| Ensembl Gene |
ENSMUSG00000001542 |
| Gene Name |
elongation factor for RNA polymerase II 2 |
| Synonyms |
|
| MMRRC Submission |
040316-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2325 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
75855603-75920480 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75917745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 558
(H558Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001583]
[ENSMUST00000222194]
|
| AlphaFold |
Q3UKU1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001583
AA Change: H558Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000001583
Gene: ENSMUSG00000001542
AA Change: H558Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000104261
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221979
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222564
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
T |
C |
13: 4,573,295 (GRCm39) |
T7A |
probably benign |
Het |
| Atoh7 |
C |
A |
10: 62,935,924 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
C |
T |
10: 98,854,757 (GRCm39) |
Q219* |
probably null |
Het |
| B3galt2 |
A |
G |
1: 143,522,926 (GRCm39) |
D354G |
probably benign |
Het |
| Cdh9 |
A |
G |
15: 16,778,286 (GRCm39) |
R34G |
probably benign |
Het |
| Cyp4x1 |
A |
T |
4: 114,981,576 (GRCm39) |
C126S |
probably benign |
Het |
| Dse |
A |
T |
10: 34,060,043 (GRCm39) |
S21T |
probably benign |
Het |
| Elp1 |
A |
T |
4: 56,784,622 (GRCm39) |
M457K |
probably benign |
Het |
| Esco2 |
A |
T |
14: 66,064,027 (GRCm39) |
|
probably null |
Het |
| Fam170a |
A |
G |
18: 50,414,917 (GRCm39) |
K188E |
possibly damaging |
Het |
| Gin1 |
A |
C |
1: 97,720,286 (GRCm39) |
Y516S |
probably damaging |
Het |
| Gm8439 |
A |
G |
4: 120,446,048 (GRCm39) |
E16G |
unknown |
Het |
| Gtf2b |
A |
G |
3: 142,485,851 (GRCm39) |
T176A |
probably damaging |
Het |
| Kcnh6 |
C |
T |
11: 105,924,661 (GRCm39) |
S822F |
probably benign |
Het |
| Lct |
T |
C |
1: 128,231,963 (GRCm39) |
M629V |
probably damaging |
Het |
| Lrp8 |
A |
T |
4: 107,721,206 (GRCm39) |
D602V |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,139,875 (GRCm39) |
T817A |
probably damaging |
Het |
| Mroh9 |
A |
C |
1: 162,854,099 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
T |
C |
8: 87,575,088 (GRCm39) |
I736V |
probably damaging |
Het |
| Nebl |
T |
C |
2: 17,397,827 (GRCm39) |
K490E |
possibly damaging |
Het |
| P2ry1 |
A |
T |
3: 60,910,999 (GRCm39) |
K46M |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,266,609 (GRCm39) |
L426H |
probably damaging |
Het |
| Prkci |
T |
A |
3: 31,085,217 (GRCm39) |
|
probably null |
Het |
| Prss35 |
G |
A |
9: 86,638,357 (GRCm39) |
G376R |
probably damaging |
Het |
| Scube2 |
C |
G |
7: 109,443,161 (GRCm39) |
C226S |
probably damaging |
Het |
| Slc26a5 |
T |
G |
5: 22,024,692 (GRCm39) |
Y469S |
probably damaging |
Het |
| Stil |
T |
A |
4: 114,889,904 (GRCm39) |
D797E |
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,910,551 (GRCm39) |
|
probably null |
Het |
| Tmem132e |
C |
A |
11: 82,325,341 (GRCm39) |
L114M |
probably damaging |
Het |
| Tmem161b |
C |
A |
13: 84,442,887 (GRCm39) |
T269K |
possibly damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,537 (GRCm39) |
C257* |
probably null |
Het |
| Zc3h15 |
G |
A |
2: 83,483,783 (GRCm39) |
G53S |
probably damaging |
Het |
| Zfp462 |
A |
C |
4: 55,013,712 (GRCm39) |
I1893L |
probably benign |
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 |
|
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'- TGCAAGAAGGCAGTCTCTTTAAC -3'
(R):5'- AAGCCCCTTTGTTTCCTAAAGC -3'
Sequencing Primer
(F):5'- AACTATTTAGCTTAAATCCCAGCCTC -3'
(R):5'- GCATCAGATAGTCTAGTGTGTTAGAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation