Incidental Mutation 'R2884:Ecd'
| ID |
260988 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ecd
|
| Ensembl Gene |
ENSMUSG00000021810 |
| Gene Name |
ecdysoneless cell cycle regulator |
| Synonyms |
5730461K03Rik |
| MMRRC Submission |
040472-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2884 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
20369927-20398189 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 20370841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 626
(G626D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022344
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022343]
[ENSMUST00000022344]
[ENSMUST00000223663]
[ENSMUST00000224311]
[ENSMUST00000225314]
|
| AlphaFold |
Q9CS74 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022343
|
| SMART Domains |
Protein: ENSMUSP00000022343
Gene: ENSMUSG00000021809
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUDIX-like
|
46 |
162 |
2.3e-20 |
PFAM |
|
Pfam:zf-NADH-PPase
|
164 |
195 |
4.5e-12 |
PFAM |
|
Pfam:NUDIX
|
197 |
318 |
1.2e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022344
AA Change: G626D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022344
Gene: ENSMUSG00000021810
AA Change: G626D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SGT1
|
14 |
597 |
4.4e-247 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223566
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223663
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224354
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225728
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225722
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
T |
8: 120,872,250 (GRCm39) |
E59D |
possibly damaging |
Het |
| Arhgap27 |
T |
C |
11: 103,251,669 (GRCm39) |
|
probably null |
Het |
| BC061237 |
A |
G |
14: 44,738,627 (GRCm39) |
R9G |
possibly damaging |
Het |
| Brsk1 |
A |
G |
7: 4,694,122 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
G |
T |
13: 113,505,725 (GRCm39) |
A2285S |
probably benign |
Het |
| Cspg4b |
A |
T |
13: 113,457,216 (GRCm39) |
Q1087H |
probably damaging |
Het |
| Dnajb5 |
A |
T |
4: 42,957,355 (GRCm39) |
D284V |
probably damaging |
Het |
| Dnmt3a |
A |
G |
12: 3,946,132 (GRCm39) |
D329G |
probably damaging |
Het |
| Exoc3l4 |
A |
G |
12: 111,394,956 (GRCm39) |
D551G |
possibly damaging |
Het |
| Fam227b |
A |
T |
2: 125,942,846 (GRCm39) |
I317N |
probably benign |
Het |
| Fam3c |
G |
A |
6: 22,329,581 (GRCm39) |
R49C |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,364,698 (GRCm39) |
Y566C |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,848,127 (GRCm39) |
N1779S |
probably benign |
Het |
| Gm19965 |
T |
A |
1: 116,749,313 (GRCm39) |
N331K |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| H2ac8 |
A |
G |
13: 23,755,047 (GRCm39) |
I79T |
probably damaging |
Het |
| H2-DMa |
A |
G |
17: 34,356,121 (GRCm39) |
N41S |
probably damaging |
Het |
| Habp4 |
A |
T |
13: 64,330,080 (GRCm39) |
R328S |
probably benign |
Het |
| Hexb |
C |
T |
13: 97,320,208 (GRCm39) |
G272D |
probably damaging |
Het |
| Lilrb4a |
A |
T |
10: 51,367,709 (GRCm39) |
N84Y |
probably benign |
Het |
| Mtnr1a |
A |
G |
8: 45,540,305 (GRCm39) |
T89A |
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,228,469 (GRCm39) |
N336K |
probably benign |
Het |
| Naca |
T |
C |
10: 127,877,547 (GRCm39) |
|
probably benign |
Het |
| Naif1 |
C |
T |
2: 32,344,887 (GRCm39) |
P197L |
probably benign |
Het |
| Nprl3 |
A |
G |
11: 32,198,163 (GRCm39) |
L179P |
probably damaging |
Het |
| Nup93 |
A |
G |
8: 95,030,266 (GRCm39) |
Y375C |
probably damaging |
Het |
| Or52b4 |
A |
G |
7: 102,184,439 (GRCm39) |
I162V |
probably benign |
Het |
| Pcdha12 |
G |
A |
18: 37,153,757 (GRCm39) |
D159N |
probably damaging |
Het |
| Plekhs1 |
G |
A |
19: 56,459,258 (GRCm39) |
G39R |
probably benign |
Het |
| Ppp4r3a |
T |
C |
12: 101,034,936 (GRCm39) |
E53G |
probably damaging |
Het |
| Prss48 |
A |
T |
3: 85,904,562 (GRCm39) |
M212K |
probably benign |
Het |
| Pth |
A |
T |
7: 112,985,235 (GRCm39) |
L46Q |
probably damaging |
Het |
| Rin2 |
A |
T |
2: 145,702,911 (GRCm39) |
T536S |
probably benign |
Het |
| Setx |
T |
G |
2: 29,038,637 (GRCm39) |
C1707W |
probably damaging |
Het |
| Stau2 |
A |
T |
1: 16,301,290 (GRCm39) |
F519Y |
possibly damaging |
Het |
| Syne2 |
T |
G |
12: 76,010,533 (GRCm39) |
V2481G |
probably benign |
Het |
| Tpte |
C |
T |
8: 22,825,439 (GRCm39) |
Q331* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,730,596 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
T |
10: 12,615,105 (GRCm39) |
|
probably null |
Het |
| Vmn2r82 |
A |
G |
10: 79,232,082 (GRCm39) |
I694V |
probably benign |
Het |
| Vmn2r88 |
G |
A |
14: 51,651,391 (GRCm39) |
C235Y |
probably damaging |
Het |
| Xrn2 |
T |
A |
2: 146,889,576 (GRCm39) |
V653E |
probably damaging |
Het |
| Znrf3 |
A |
T |
11: 5,239,693 (GRCm39) |
D58E |
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 |
|
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 |
|
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'- TGCACAGAAGACAGATGCTC -3'
(R):5'- TTTCTAGAATAAGGACCCTCCATCC -3'
Sequencing Primer
(F):5'- GAACTCATTTTCTAGACCAGGCTGG -3'
(R):5'- CCACACTGCAAATGACAATTCAGATG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation