Incidental Mutation 'IGL02930:Eepd1'
| ID |
364048 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eepd1
|
| Ensembl Gene |
ENSMUSG00000036611 |
| Gene Name |
endonuclease/exonuclease/phosphatase family domain containing 1 |
| Synonyms |
2310005P05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
IGL02930
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
25392843-25515406 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25394536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 267
(N267D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040677]
|
| AlphaFold |
Q3TGW2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040677
AA Change: N267D
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000047083
Gene: ENSMUSG00000036611
AA Change: N267D
| Domain | Start | End | E-Value | Type |
|---|
|
HhH1
|
48 |
67 |
1.45e-1 |
SMART |
|
HhH1
|
78 |
97 |
2.55e2 |
SMART |
|
low complexity region
|
124 |
135 |
N/A |
INTRINSIC |
|
HhH1
|
145 |
164 |
6.66e-1 |
SMART |
|
Pfam:Exo_endo_phos
|
264 |
535 |
6.6e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156237
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,328,226 (GRCm39) |
N3433S |
possibly damaging |
Het |
| Actl9 |
T |
C |
17: 33,653,073 (GRCm39) |
S378P |
probably damaging |
Het |
| Aldh6a1 |
C |
A |
12: 84,480,756 (GRCm39) |
L426F |
possibly damaging |
Het |
| Ankef1 |
T |
C |
2: 136,392,245 (GRCm39) |
I478T |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,127,745 (GRCm39) |
D132G |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,879,643 (GRCm39) |
E475G |
probably damaging |
Het |
| Cmtm2b |
A |
C |
8: 105,056,402 (GRCm39) |
M104L |
probably benign |
Het |
| Cops2 |
T |
C |
2: 125,674,109 (GRCm39) |
|
probably benign |
Het |
| Dnajc4 |
C |
A |
19: 6,966,801 (GRCm39) |
V176F |
possibly damaging |
Het |
| Elobl |
T |
G |
11: 88,856,012 (GRCm39) |
D17A |
possibly damaging |
Het |
| Erich6 |
G |
A |
3: 58,529,775 (GRCm39) |
|
probably benign |
Het |
| Flna |
G |
A |
X: 73,267,506 (GRCm39) |
R2548C |
probably damaging |
Het |
| Gm6878 |
T |
G |
14: 67,548,439 (GRCm39) |
|
probably benign |
Het |
| Gpc1 |
G |
T |
1: 92,785,021 (GRCm39) |
E355* |
probably null |
Het |
| Islr |
C |
T |
9: 58,065,483 (GRCm39) |
|
probably benign |
Het |
| Mex3a |
A |
T |
3: 88,443,532 (GRCm39) |
I203L |
probably benign |
Het |
| Or5p58 |
A |
T |
7: 107,694,621 (GRCm39) |
I52N |
probably damaging |
Het |
| Or6c88 |
T |
C |
10: 129,407,184 (GRCm39) |
I220T |
probably damaging |
Het |
| Or8g24 |
G |
T |
9: 38,989,308 (GRCm39) |
H244Q |
probably damaging |
Het |
| Prokr2 |
T |
C |
2: 132,215,394 (GRCm39) |
S195G |
probably benign |
Het |
| Pyroxd1 |
A |
T |
6: 142,304,778 (GRCm39) |
D335V |
probably damaging |
Het |
| Rps6kl1 |
T |
C |
12: 85,196,548 (GRCm39) |
T39A |
probably benign |
Het |
| Rusc2 |
G |
A |
4: 43,416,376 (GRCm39) |
A561T |
probably damaging |
Het |
| Sel1l3 |
A |
C |
5: 53,280,559 (GRCm39) |
V937G |
possibly damaging |
Het |
| Sh3pxd2b |
A |
G |
11: 32,367,161 (GRCm39) |
T382A |
possibly damaging |
Het |
| Tbx21 |
A |
G |
11: 96,990,865 (GRCm39) |
I271T |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,083,060 (GRCm39) |
V632A |
probably benign |
Het |
| Tle3 |
A |
G |
9: 61,301,981 (GRCm39) |
N67S |
possibly damaging |
Het |
| Tln2 |
G |
A |
9: 67,300,944 (GRCm39) |
R95* |
probably null |
Het |
| Trim24 |
A |
G |
6: 37,928,380 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,196,537 (GRCm39) |
D1253E |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,579 (GRCm39) |
K210R |
probably benign |
Het |
|
| Other mutations in Eepd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01383:Eepd1
|
APN |
9 |
25,393,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02110:Eepd1
|
APN |
9 |
25,514,698 (GRCm39) |
splice site |
probably benign |
|
|
IGL02113:Eepd1
|
APN |
9 |
25,394,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02188:Eepd1
|
APN |
9 |
25,493,188 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03293:Eepd1
|
APN |
9 |
25,514,708 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03046:Eepd1
|
UTSW |
9 |
25,393,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0970:Eepd1
|
UTSW |
9 |
25,514,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1037:Eepd1
|
UTSW |
9 |
25,498,079 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1441:Eepd1
|
UTSW |
9 |
25,394,499 (GRCm39) |
missense |
probably benign |
|
|
R1835:Eepd1
|
UTSW |
9 |
25,394,164 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3912:Eepd1
|
UTSW |
9 |
25,394,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4245:Eepd1
|
UTSW |
9 |
25,505,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4704:Eepd1
|
UTSW |
9 |
25,394,122 (GRCm39) |
missense |
probably benign |
|
|
R4838:Eepd1
|
UTSW |
9 |
25,500,756 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5153:Eepd1
|
UTSW |
9 |
25,498,049 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5634:Eepd1
|
UTSW |
9 |
25,514,849 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5994:Eepd1
|
UTSW |
9 |
25,514,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6141:Eepd1
|
UTSW |
9 |
25,394,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6709:Eepd1
|
UTSW |
9 |
25,394,164 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7063:Eepd1
|
UTSW |
9 |
25,394,332 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8697:Eepd1
|
UTSW |
9 |
25,497,998 (GRCm39) |
missense |
probably benign |
|
|
R8903:Eepd1
|
UTSW |
9 |
25,394,518 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation