Incidental Mutation 'IGL02171:Ecd'
| ID |
283559 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ecd
|
| Ensembl Gene |
ENSMUSG00000021810 |
| Gene Name |
ecdysoneless cell cycle regulator |
| Synonyms |
5730461K03Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02171
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
20369927-20398189 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20370895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 608
(Y608F)
|
| 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: Y608F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022344
Gene: ENSMUSG00000021810
AA Change: Y608F
| 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: ENSMUST00000225722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225728
|
| Coding Region Coverage |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,921,237 (GRCm39) |
I772M |
probably benign |
Het |
| Abcg4 |
C |
A |
9: 44,186,306 (GRCm39) |
|
probably benign |
Het |
| Abo |
A |
G |
2: 26,738,969 (GRCm39) |
I18T |
probably benign |
Het |
| AI661453 |
C |
T |
17: 47,777,921 (GRCm39) |
|
probably benign |
Het |
| Apbb1 |
A |
G |
7: 105,208,333 (GRCm39) |
|
probably benign |
Het |
| Atp8a1 |
G |
A |
5: 67,895,808 (GRCm39) |
S557L |
probably damaging |
Het |
| Bora |
G |
T |
14: 99,284,758 (GRCm39) |
D3Y |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,246,972 (GRCm39) |
D323G |
possibly damaging |
Het |
| Dcdc2a |
T |
A |
13: 25,240,417 (GRCm39) |
V55E |
probably damaging |
Het |
| Dync1i1 |
G |
T |
6: 5,969,498 (GRCm39) |
R441L |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,853,900 (GRCm39) |
T489A |
probably benign |
Het |
| Erlin1 |
A |
G |
19: 44,037,555 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,883,040 (GRCm39) |
E2524G |
probably benign |
Het |
| Garem1 |
C |
T |
18: 21,262,298 (GRCm39) |
D839N |
probably damaging |
Het |
| Gdap1l1 |
T |
A |
2: 163,289,470 (GRCm39) |
V145E |
possibly damaging |
Het |
| Gvin3 |
G |
T |
7: 106,200,548 (GRCm39) |
|
noncoding transcript |
Het |
| Hydin |
A |
T |
8: 111,178,590 (GRCm39) |
K1062* |
probably null |
Het |
| Igkv4-92 |
T |
C |
6: 68,732,573 (GRCm39) |
D2G |
probably benign |
Het |
| Lemd3 |
T |
A |
10: 120,769,527 (GRCm39) |
|
probably benign |
Het |
| Mbl1 |
C |
T |
14: 40,876,455 (GRCm39) |
|
probably benign |
Het |
| Mdh1 |
T |
C |
11: 21,507,438 (GRCm39) |
|
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,945,578 (GRCm39) |
|
probably null |
Het |
| Nrxn3 |
C |
A |
12: 89,159,933 (GRCm39) |
P20T |
probably damaging |
Het |
| Nudt1 |
A |
G |
5: 140,323,348 (GRCm39) |
E100G |
probably damaging |
Het |
| Or2y1e |
T |
A |
11: 49,218,862 (GRCm39) |
F208Y |
possibly damaging |
Het |
| Or9g4 |
T |
A |
2: 85,505,285 (GRCm39) |
D70V |
probably damaging |
Het |
| Palb2 |
A |
C |
7: 121,706,809 (GRCm39) |
S1083A |
probably damaging |
Het |
| Phc2 |
T |
G |
4: 128,604,858 (GRCm39) |
F198C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,379,542 (GRCm39) |
D1056G |
possibly damaging |
Het |
| Psg17 |
A |
G |
7: 18,552,712 (GRCm39) |
Y188H |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,103,543 (GRCm39) |
I1906F |
probably damaging |
Het |
| Sidt2 |
C |
A |
9: 45,864,068 (GRCm39) |
R150L |
possibly damaging |
Het |
| Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
| Supt3 |
T |
C |
17: 45,314,043 (GRCm39) |
I144T |
probably damaging |
Het |
| Trip4 |
A |
G |
9: 65,788,332 (GRCm39) |
S38P |
probably damaging |
Het |
| Vmn1r173 |
G |
T |
7: 23,402,321 (GRCm39) |
M185I |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Wdr72 |
A |
T |
9: 74,117,816 (GRCm39) |
M843L |
possibly damaging |
Het |
| Zfp595 |
T |
A |
13: 67,464,719 (GRCm39) |
N518Y |
possibly damaging |
Het |
|
| Other mutations in Ecd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation