Incidental Mutation 'R1069:Ecd'
| ID |
86137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ecd
|
| Ensembl Gene |
ENSMUSG00000021810 |
| Gene Name |
ecdysoneless cell cycle regulator |
| Synonyms |
5730461K03Rik |
| MMRRC Submission |
039155-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1069 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
20369927-20398189 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20383504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 312
(C312R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022344]
[ENSMUST00000223955]
|
| AlphaFold |
Q9CS74 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022344
AA Change: C312R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022344
Gene: ENSMUSG00000021810
AA Change: C312R
| 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
|
| Meta Mutation Damage Score |
0.8568 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
G |
18: 6,624,037 (GRCm39) |
N106S |
probably benign |
Het |
| Akr1c21 |
C |
A |
13: 4,625,333 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
G |
A |
18: 65,438,085 (GRCm39) |
R1570C |
probably benign |
Het |
| Atp8b3 |
G |
A |
10: 80,366,852 (GRCm39) |
R249C |
probably damaging |
Het |
| Cacnb4 |
C |
A |
2: 52,345,623 (GRCm39) |
R252I |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,123,844 (GRCm39) |
T480A |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,442,971 (GRCm39) |
C745* |
probably null |
Het |
| Ccr8 |
A |
G |
9: 119,923,283 (GRCm39) |
I133V |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Dgkq |
T |
C |
5: 108,803,903 (GRCm39) |
|
probably benign |
Het |
| Eddm13 |
A |
T |
7: 6,258,921 (GRCm39) |
|
probably null |
Het |
| Gstm1 |
T |
C |
3: 107,920,064 (GRCm39) |
S226G |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hacd4 |
T |
A |
4: 88,355,739 (GRCm39) |
I49L |
probably damaging |
Het |
| Hid1 |
T |
C |
11: 115,247,591 (GRCm39) |
N269S |
probably damaging |
Het |
| Ifitm3 |
A |
T |
7: 140,589,813 (GRCm39) |
|
probably benign |
Het |
| Kctd9 |
C |
T |
14: 67,966,869 (GRCm39) |
|
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,928,251 (GRCm39) |
L1131P |
probably damaging |
Het |
| Kif2c |
T |
C |
4: 117,035,350 (GRCm39) |
T33A |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,730,819 (GRCm39) |
T38A |
probably benign |
Het |
| Lrguk |
A |
C |
6: 34,025,818 (GRCm39) |
I205L |
possibly damaging |
Het |
| Mir100hg |
G |
A |
9: 41,501,594 (GRCm39) |
R151H |
possibly damaging |
Het |
| Ncapg |
T |
A |
5: 45,833,272 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,916,724 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
T |
A |
4: 76,018,870 (GRCm39) |
K635* |
probably null |
Het |
| Sap130 |
G |
A |
18: 31,844,682 (GRCm39) |
V898I |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Svep1 |
C |
T |
4: 58,070,239 (GRCm39) |
G2516R |
probably damaging |
Het |
| Tas2r131 |
C |
T |
6: 132,934,788 (GRCm39) |
R7K |
probably benign |
Het |
| Tfpi |
A |
G |
2: 84,284,136 (GRCm39) |
|
probably benign |
Het |
| Trim80 |
T |
C |
11: 115,338,909 (GRCm39) |
C580R |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,800,273 (GRCm39) |
I312F |
unknown |
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 |
|
|
R1315:Ecd
|
UTSW |
14 |
20,387,128 (GRCm39) |
missense |
probably benign |
0.16 |
|
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'- CCACATCTGGCCTCCATACATGAGA -3'
(R):5'- AACACACATTCCCTTGTGTCTAGTCAC -3'
Sequencing Primer
(F):5'- aacacacatcacacacacac -3'
(R):5'- AGTCACCTAGTTCTAGATTGTTGC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation