Incidental Mutation 'R3760:Ell2'
| ID |
270514 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ell2
|
| Ensembl Gene |
ENSMUSG00000001542 |
| Gene Name |
elongation factor for RNA polymerase II 2 |
| Synonyms |
|
| MMRRC Submission |
040740-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3760 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
75855603-75920480 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75910281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 163
(Q163L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001583]
[ENSMUST00000220572]
[ENSMUST00000222194]
[ENSMUST00000222853]
|
| AlphaFold |
Q3UKU1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001583
AA Change: Q295L
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000001583
Gene: ENSMUSG00000001542
AA Change: Q295L
| 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
AA Change: Q163L
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000222892
AA Change: Q155L
|
| Meta Mutation Damage Score |
0.1147 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
T |
C |
3: 148,522,871 (GRCm39) |
E1448G |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Epha6 |
T |
A |
16: 60,041,347 (GRCm39) |
T423S |
possibly damaging |
Het |
| Fhad1 |
T |
C |
4: 141,637,124 (GRCm39) |
E1114G |
probably damaging |
Het |
| Gpr83 |
A |
T |
9: 14,772,034 (GRCm39) |
T69S |
probably benign |
Het |
| Gramd1c |
A |
T |
16: 43,818,154 (GRCm39) |
M342K |
probably damaging |
Het |
| H3c7 |
T |
C |
13: 23,728,985 (GRCm39) |
C111R |
probably damaging |
Het |
| Idua |
T |
C |
5: 108,817,978 (GRCm39) |
|
probably benign |
Het |
| Kcnh1 |
T |
C |
1: 192,188,332 (GRCm39) |
L931P |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,478,077 (GRCm39) |
S470T |
probably damaging |
Het |
| Map7 |
T |
C |
10: 20,152,027 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,919,406 (GRCm39) |
L6213P |
probably damaging |
Het |
| Or5b109 |
T |
C |
19: 13,212,250 (GRCm39) |
L212P |
probably damaging |
Het |
| Or8k38 |
G |
A |
2: 86,488,232 (GRCm39) |
S190L |
possibly damaging |
Het |
| Pcnx4 |
C |
T |
12: 72,613,780 (GRCm39) |
T575M |
probably damaging |
Het |
| Ppp1r12a |
A |
G |
10: 108,100,595 (GRCm39) |
D348G |
probably damaging |
Het |
| Prrc2c |
T |
C |
1: 162,520,420 (GRCm39) |
N730S |
probably damaging |
Het |
| Serpinb3d |
C |
T |
1: 107,009,304 (GRCm39) |
|
probably benign |
Het |
| Skint6 |
T |
C |
4: 112,794,655 (GRCm39) |
T705A |
possibly damaging |
Het |
| Slc6a20a |
A |
G |
9: 123,492,054 (GRCm39) |
I50T |
probably damaging |
Het |
| Taf13 |
T |
C |
3: 108,485,424 (GRCm39) |
|
probably benign |
Het |
| Tlr11 |
A |
T |
14: 50,599,700 (GRCm39) |
E562V |
probably damaging |
Het |
| Uhrf2 |
T |
C |
19: 30,051,331 (GRCm39) |
S302P |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,058,964 (GRCm39) |
L1036Q |
probably damaging |
Het |
| Vmn1r85 |
A |
T |
7: 12,818,932 (GRCm39) |
S71T |
probably damaging |
Het |
| Vmn2r-ps158 |
G |
A |
7: 42,673,502 (GRCm39) |
E187K |
probably benign |
Het |
| Vps52 |
T |
C |
17: 34,179,162 (GRCm39) |
F200L |
possibly damaging |
Het |
| Zfp521 |
T |
C |
18: 13,977,686 (GRCm39) |
H909R |
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 |
|
|
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 |
|
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'- GGTGGCCAATCTGAATCCTAAGG -3'
(R):5'- ATTCTAAGGCAGGTGATCTGTG -3'
Sequencing Primer
(F):5'- CAGACAGACATTGGATTTGGTGCTC -3'
(R):5'- GCAGTTTTGCTCCCTCACAATCAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation