Incidental Mutation 'R1315:Ecd'
| ID |
157526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ecd
|
| Ensembl Gene |
ENSMUSG00000021810 |
| Gene Name |
ecdysoneless cell cycle regulator |
| Synonyms |
5730461K03Rik |
| MMRRC Submission |
039381-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1315 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
20369927-20398189 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20387128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 202
(V202A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022344]
[ENSMUST00000223955]
|
| AlphaFold |
Q9CS74 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022344
AA Change: V202A
PolyPhen 2
Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022344
Gene: ENSMUSG00000021810
AA Change: V202A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SGT1
|
14 |
597 |
4.4e-247 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223955
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225487
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality (no time point given). [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 11 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C1qtnf12 |
G |
A |
4: 156,050,331 (GRCm39) |
E223K |
probably damaging |
Het |
| Golgb1 |
T |
C |
16: 36,735,262 (GRCm39) |
M1503T |
probably benign |
Het |
| Kif23 |
G |
A |
9: 61,831,270 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
C |
T |
7: 141,361,060 (GRCm39) |
T1457I |
probably damaging |
Het |
| Or8k24 |
C |
A |
2: 86,216,518 (GRCm39) |
M81I |
possibly damaging |
Het |
| Osbpl2 |
T |
C |
2: 179,790,395 (GRCm39) |
L223P |
probably damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,142,486 (GRCm39) |
D1301G |
probably benign |
Het |
| Rrp1b |
T |
C |
17: 32,275,613 (GRCm39) |
F387L |
probably benign |
Het |
| Sltm |
T |
C |
9: 70,450,347 (GRCm39) |
V49A |
probably benign |
Het |
| Spdl1 |
T |
A |
11: 34,704,234 (GRCm39) |
K533M |
unknown |
Het |
| Wnt8b |
T |
C |
19: 44,500,462 (GRCm39) |
C350R |
probably damaging |
Het |
|
| Other mutations in Ecd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02171:Ecd
|
APN |
14 |
20,370,895 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02458:Ecd
|
APN |
14 |
20,374,545 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0335:Ecd
|
UTSW |
14 |
20,370,802 (GRCm39) |
missense |
probably benign |
|
|
R0520:Ecd
|
UTSW |
14 |
20,378,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1036:Ecd
|
UTSW |
14 |
20,383,386 (GRCm39) |
unclassified |
probably benign |
|
|
R1069:Ecd
|
UTSW |
14 |
20,383,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1478:Ecd
|
UTSW |
14 |
20,396,725 (GRCm39) |
nonsense |
probably null |
|
|
R1637:Ecd
|
UTSW |
14 |
20,396,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1891:Ecd
|
UTSW |
14 |
20,388,227 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2884:Ecd
|
UTSW |
14 |
20,370,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4155:Ecd
|
UTSW |
14 |
20,374,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4156:Ecd
|
UTSW |
14 |
20,374,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4157:Ecd
|
UTSW |
14 |
20,374,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5026:Ecd
|
UTSW |
14 |
20,387,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5082:Ecd
|
UTSW |
14 |
20,374,436 (GRCm39) |
splice site |
probably null |
|
|
R5485:Ecd
|
UTSW |
14 |
20,388,273 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5988:Ecd
|
UTSW |
14 |
20,374,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6126:Ecd
|
UTSW |
14 |
20,388,493 (GRCm39) |
splice site |
probably null |
|
|
R6136:Ecd
|
UTSW |
14 |
20,370,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7837:Ecd
|
UTSW |
14 |
20,383,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8052:Ecd
|
UTSW |
14 |
20,380,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8432:Ecd
|
UTSW |
14 |
20,370,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8438:Ecd
|
UTSW |
14 |
20,388,533 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8856:Ecd
|
UTSW |
14 |
20,387,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9566:Ecd
|
UTSW |
14 |
20,393,368 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Ecd
|
UTSW |
14 |
20,387,087 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGTCTTGAAGACACGACAGGCTC -3'
(R):5'- TCCCAATAGCTCTTTGGTTCCAAGC -3'
Sequencing Primer
(F):5'- CGACAGGCTCTTAGGTCAATG -3'
(R):5'- gtggaataagaggcaggagg -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation