Incidental Mutation 'IGL01315:Ell2'
| ID |
73834 |
| 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 # |
IGL01315
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
75855603-75920480 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 75910351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001583]
[ENSMUST00000220572]
[ENSMUST00000222194]
[ENSMUST00000222853]
|
| AlphaFold |
Q3UKU1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001583
|
| SMART Domains |
Protein: ENSMUSP00000001583
Gene: ENSMUSG00000001542
| 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
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222892
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
T |
C |
5: 31,050,578 (GRCm39) |
S409P |
probably benign |
Het |
| Ankdd1a |
T |
A |
9: 65,415,984 (GRCm39) |
H187L |
probably damaging |
Het |
| Ap2a1 |
A |
T |
7: 44,565,713 (GRCm39) |
D51E |
possibly damaging |
Het |
| Ccn3 |
T |
C |
15: 54,612,656 (GRCm39) |
S222P |
probably damaging |
Het |
| Cog5 |
T |
A |
12: 31,810,985 (GRCm39) |
|
probably benign |
Het |
| Eif3h |
T |
C |
15: 51,705,881 (GRCm39) |
D91G |
probably damaging |
Het |
| Epha4 |
A |
G |
1: 77,375,194 (GRCm39) |
V551A |
probably benign |
Het |
| Gpc2 |
A |
G |
5: 138,274,301 (GRCm39) |
S354P |
probably benign |
Het |
| Gramd1a |
A |
G |
7: 30,841,993 (GRCm39) |
F140L |
probably damaging |
Het |
| Hnmt |
A |
G |
2: 23,909,180 (GRCm39) |
Y78H |
probably benign |
Het |
| Ighe |
T |
A |
12: 113,234,972 (GRCm39) |
H396L |
unknown |
Het |
| Krt87 |
A |
G |
15: 101,384,848 (GRCm39) |
|
probably benign |
Het |
| Mgat5b |
T |
C |
11: 116,814,215 (GRCm39) |
S40P |
probably damaging |
Het |
| Mov10 |
A |
G |
3: 104,703,261 (GRCm39) |
V876A |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,320,500 (GRCm39) |
V2031A |
probably damaging |
Het |
| Ntm |
T |
A |
9: 28,925,480 (GRCm39) |
S26C |
probably damaging |
Het |
| Pcsk5 |
G |
A |
19: 17,429,322 (GRCm39) |
T1552I |
probably damaging |
Het |
| Pex1 |
A |
T |
5: 3,659,975 (GRCm39) |
D453V |
probably damaging |
Het |
| Pkd2l1 |
C |
T |
19: 44,180,635 (GRCm39) |
D27N |
probably benign |
Het |
| Plppr5 |
G |
T |
3: 117,456,175 (GRCm39) |
C232F |
probably damaging |
Het |
| Slc39a2 |
G |
T |
14: 52,132,593 (GRCm39) |
E179* |
probably null |
Het |
| Slc8a3 |
A |
G |
12: 81,361,169 (GRCm39) |
V550A |
probably damaging |
Het |
| Smc5 |
T |
A |
19: 23,208,968 (GRCm39) |
T626S |
probably benign |
Het |
| Tars1 |
A |
C |
15: 11,389,820 (GRCm39) |
Y363* |
probably null |
Het |
| Unc79 |
T |
C |
12: 103,054,780 (GRCm39) |
I906T |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,365,811 (GRCm39) |
P2222S |
possibly damaging |
Het |
| Wdr31 |
A |
C |
4: 62,374,074 (GRCm39) |
V306G |
probably damaging |
Het |
| Zdhhc1 |
C |
A |
8: 106,199,630 (GRCm39) |
R389S |
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 |
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation