Incidental Mutation 'K7371:Ell3'
| ID |
7875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ell3
|
| Ensembl Gene |
ENSMUSG00000027246 |
| Gene Name |
elongation factor RNA polymerase II-like 3 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
K7371
of strain
614
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
121269508-121273082 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 121269969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 380
(H380R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112133
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028679]
[ENSMUST00000028683]
[ENSMUST00000116432]
|
| AlphaFold |
Q80VR2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028679
AA Change: H380R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028679
Gene: ENSMUSG00000027246
AA Change: H380R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELL
|
15 |
123 |
2e-13 |
PFAM |
|
low complexity region
|
240 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
281 |
N/A |
INTRINSIC |
|
Pfam:Occludin_ELL
|
289 |
390 |
3.8e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028683
|
| SMART Domains |
Protein: ENSMUSP00000028683
Gene: ENSMUSG00000027248
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Thioredoxin
|
26 |
131 |
5.2e-36 |
PFAM |
|
Pfam:Thioredoxin_6
|
160 |
355 |
2e-29 |
PFAM |
|
Pfam:Thioredoxin
|
377 |
483 |
9.5e-33 |
PFAM |
|
low complexity region
|
487 |
503 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116432
AA Change: H380R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112133
Gene: ENSMUSG00000027246
AA Change: H380R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELL
|
5 |
247 |
1.3e-43 |
PFAM |
|
low complexity region
|
269 |
281 |
N/A |
INTRINSIC |
|
Pfam:Occludin_ELL
|
289 |
390 |
1.8e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140752
|
| SMART Domains |
Protein: ENSMUSP00000116676
Gene: ENSMUSG00000046110
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
2 |
78 |
7.3e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153866
|
| Meta Mutation Damage Score |
0.7228 |
| Coding Region Coverage |
|
| Validation Efficiency |
72% (67/93) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,767 (GRCm39) |
Y155C |
probably benign |
Homo |
| Alpi |
G |
A |
1: 87,026,893 (GRCm39) |
|
probably benign |
Homo |
| Ap4e1 |
T |
A |
2: 126,908,456 (GRCm39) |
|
probably benign |
Het |
| Arhgdib |
A |
T |
6: 136,909,297 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
C |
2: 91,425,868 (GRCm39) |
|
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,457,289 (GRCm39) |
M1K |
probably null |
Het |
| Epx |
A |
G |
11: 87,755,710 (GRCm39) |
V658A |
probably damaging |
Homo |
| Ern1 |
A |
T |
11: 106,291,101 (GRCm39) |
I858N |
probably damaging |
Homo |
| Mtmr10 |
G |
A |
7: 63,963,958 (GRCm39) |
G231D |
probably benign |
Het |
| Nfx1 |
A |
G |
4: 40,976,803 (GRCm39) |
D159G |
probably damaging |
Homo |
| Opn5 |
A |
G |
17: 42,891,522 (GRCm39) |
I305T |
probably damaging |
Homo |
| Pak2 |
T |
C |
16: 31,852,602 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,400,838 (GRCm39) |
I2204K |
possibly damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,363,463 (GRCm39) |
T628S |
possibly damaging |
Het |
| Smgc |
T |
A |
15: 91,744,453 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
G |
A |
14: 30,872,206 (GRCm39) |
L1194F |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,779,153 (GRCm39) |
|
probably null |
Homo |
| Tet1 |
T |
C |
10: 62,714,955 (GRCm39) |
D280G |
probably benign |
Het |
| Vcam1 |
A |
G |
3: 115,918,298 (GRCm39) |
I227T |
probably benign |
Homo |
| Wdr87-ps |
A |
G |
7: 29,230,417 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Ell3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00589:Ell3
|
APN |
2 |
121,270,761 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01348:Ell3
|
APN |
2 |
121,272,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01710:Ell3
|
APN |
2 |
121,271,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1443:Ell3
|
UTSW |
2 |
121,269,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1880:Ell3
|
UTSW |
2 |
121,270,792 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6226:Ell3
|
UTSW |
2 |
121,272,258 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7417:Ell3
|
UTSW |
2 |
121,270,891 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7733:Ell3
|
UTSW |
2 |
121,273,001 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7798:Ell3
|
UTSW |
2 |
121,269,937 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7799:Ell3
|
UTSW |
2 |
121,269,937 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8097:Ell3
|
UTSW |
2 |
121,269,937 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8098:Ell3
|
UTSW |
2 |
121,269,937 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8099:Ell3
|
UTSW |
2 |
121,269,937 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R8100:Ell3
|
UTSW |
2 |
121,269,937 (GRCm39) |
utr 3 prime |
probably benign |
|
|
| Posted On |
2012-11-12 |
Incidental Mutation