Incidental Mutation 'R4164:Ell'
| ID |
321658 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ell
|
| Ensembl Gene |
ENSMUSG00000070002 |
| Gene Name |
elongation factor RNA polymerase II |
| Synonyms |
Men, eleven-nineteen lysine-rich leukemia gene, Ell1 |
| MMRRC Submission |
041638-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4164 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70992345-71045508 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 71034223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 30
(R30L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093454]
[ENSMUST00000210155]
|
| AlphaFold |
O08856 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093454
AA Change: R163L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000091163
Gene: ENSMUSG00000070002
AA Change: R163L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ELL
|
6 |
289 |
2.2e-107 |
PFAM |
|
low complexity region
|
403 |
416 |
N/A |
INTRINSIC |
|
low complexity region
|
427 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
471 |
N/A |
INTRINSIC |
|
Pfam:Occludin_ELL
|
494 |
595 |
6.4e-36 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210155
AA Change: R30L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.8030 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
89% (40/45) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele die prior to E6.5 but after implantation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
C |
T |
11: 69,780,863 (GRCm39) |
A164T |
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,889,273 (GRCm39) |
D384G |
probably damaging |
Het |
| Cntn5 |
A |
G |
9: 9,781,681 (GRCm39) |
V666A |
probably damaging |
Het |
| Defb41 |
C |
T |
1: 18,330,821 (GRCm39) |
C42Y |
probably damaging |
Het |
| Dennd4c |
C |
A |
4: 86,725,764 (GRCm39) |
N739K |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,066,575 (GRCm39) |
W2598* |
probably null |
Het |
| Entrep1 |
G |
A |
19: 23,952,993 (GRCm39) |
A439V |
probably damaging |
Het |
| Entrep1 |
C |
T |
19: 23,953,002 (GRCm39) |
S436N |
probably damaging |
Het |
| Fer1l6 |
A |
C |
15: 58,431,087 (GRCm39) |
R247S |
possibly damaging |
Het |
| Flnb |
A |
T |
14: 7,915,374 (GRCm38) |
I1502F |
possibly damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm2223 |
C |
T |
X: 32,943,247 (GRCm39) |
|
noncoding transcript |
Het |
| Ifi203 |
A |
T |
1: 173,756,029 (GRCm39) |
|
probably benign |
Het |
| Ighm |
T |
A |
12: 113,385,915 (GRCm39) |
E108V |
unknown |
Het |
| Il23r |
T |
A |
6: 67,400,647 (GRCm39) |
Q561L |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,388,436 (GRCm39) |
D703G |
probably benign |
Het |
| Kcnt2 |
A |
T |
1: 140,537,368 (GRCm39) |
Y1109F |
probably damaging |
Het |
| Lamb2 |
T |
A |
9: 108,367,497 (GRCm39) |
Y1760N |
probably damaging |
Het |
| Lrpprc |
T |
C |
17: 85,038,617 (GRCm39) |
E950G |
possibly damaging |
Het |
| Lrrc66 |
T |
A |
5: 73,787,119 (GRCm39) |
|
probably null |
Het |
| Mtbp |
T |
C |
15: 55,472,917 (GRCm39) |
V627A |
probably benign |
Het |
| Myo10 |
T |
A |
15: 25,726,501 (GRCm39) |
|
probably null |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Nipbl |
T |
C |
15: 8,368,418 (GRCm39) |
N1142S |
probably benign |
Het |
| Nrxn2 |
G |
A |
19: 6,582,173 (GRCm39) |
V660I |
probably damaging |
Het |
| Oas1c |
T |
C |
5: 120,946,204 (GRCm39) |
E98G |
probably damaging |
Het |
| Or8a1b |
T |
G |
9: 37,622,994 (GRCm39) |
I194L |
probably benign |
Het |
| Otx1 |
A |
G |
11: 21,946,638 (GRCm39) |
|
probably benign |
Het |
| Prkcd |
A |
G |
14: 30,323,154 (GRCm39) |
F461L |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 16,981,098 (GRCm39) |
F85S |
possibly damaging |
Het |
| Rnf214 |
G |
A |
9: 45,783,210 (GRCm39) |
R184W |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,324,844 (GRCm39) |
N1328S |
probably damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,593,803 (GRCm39) |
|
probably benign |
Het |
| Smarcal1 |
A |
G |
1: 72,665,848 (GRCm39) |
|
probably benign |
Het |
| Snx21 |
T |
C |
2: 164,628,770 (GRCm39) |
Y138H |
probably damaging |
Het |
| Sox5 |
T |
A |
6: 144,062,206 (GRCm39) |
R149W |
probably damaging |
Het |
| Spout1 |
C |
T |
2: 30,067,589 (GRCm39) |
|
probably benign |
Het |
| Tlr1 |
A |
G |
5: 65,084,545 (GRCm39) |
C11R |
possibly damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,706,697 (GRCm39) |
H509L |
probably benign |
Het |
|
| Other mutations in Ell |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01400:Ell
|
APN |
8 |
71,031,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01666:Ell
|
APN |
8 |
71,038,463 (GRCm39) |
missense |
probably benign |
|
|
IGL01738:Ell
|
APN |
8 |
71,034,331 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02032:Ell
|
APN |
8 |
71,038,651 (GRCm39) |
missense |
probably benign |
|
|
PIT4418001:Ell
|
UTSW |
8 |
71,034,331 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1403:Ell
|
UTSW |
8 |
71,044,138 (GRCm39) |
unclassified |
probably benign |
|
|
R1735:Ell
|
UTSW |
8 |
71,031,590 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4705:Ell
|
UTSW |
8 |
71,031,584 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5028:Ell
|
UTSW |
8 |
71,043,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5350:Ell
|
UTSW |
8 |
70,992,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5590:Ell
|
UTSW |
8 |
70,992,357 (GRCm39) |
start codon destroyed |
possibly damaging |
0.59 |
|
R5615:Ell
|
UTSW |
8 |
71,043,382 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6333:Ell
|
UTSW |
8 |
71,044,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6490:Ell
|
UTSW |
8 |
71,025,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6834:Ell
|
UTSW |
8 |
71,031,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7029:Ell
|
UTSW |
8 |
71,031,879 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7162:Ell
|
UTSW |
8 |
71,031,559 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7477:Ell
|
UTSW |
8 |
71,037,868 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7702:Ell
|
UTSW |
8 |
70,992,364 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8711:Ell
|
UTSW |
8 |
71,034,331 (GRCm39) |
unclassified |
probably benign |
|
|
R9004:Ell
|
UTSW |
8 |
71,031,604 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Ell
|
UTSW |
8 |
71,031,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGGACCACTGATGCTG -3'
(R):5'- TGATTGCACAGCACGAGGTC -3'
Sequencing Primer
(F):5'- GTCCTGGAACTCACTGTGTAGAC -3'
(R):5'- CAGCAGCTCAGCCTTCCTGTAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation