Incidental Mutation 'IGL02017:Epn3'
ID |
183786 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Epn3
|
Ensembl Gene |
ENSMUSG00000010080 |
Gene Name |
epsin 3 |
Synonyms |
2310022G12Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02017
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
94380425-94390800 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 94385852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 190
(S190P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121390
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127305]
|
AlphaFold |
Q91W69 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000010224
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127305
AA Change: S190P
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000121390 Gene: ENSMUSG00000010080 AA Change: S190P
Domain | Start | End | E-Value | Type |
ENTH
|
18 |
144 |
1.3e-62 |
SMART |
low complexity region
|
167 |
190 |
N/A |
INTRINSIC |
UIM
|
202 |
221 |
2.11e-2 |
SMART |
UIM
|
229 |
248 |
5.27e-3 |
SMART |
low complexity region
|
269 |
285 |
N/A |
INTRINSIC |
low complexity region
|
554 |
572 |
N/A |
INTRINSIC |
low complexity region
|
578 |
588 |
N/A |
INTRINSIC |
low complexity region
|
599 |
618 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142992
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150526
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are phenotypically normal. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam5 |
A |
T |
8: 25,271,775 (GRCm39) |
I544N |
probably benign |
Het |
Ago2 |
T |
C |
15: 72,998,366 (GRCm39) |
T271A |
probably benign |
Het |
Aox3 |
A |
C |
1: 58,160,151 (GRCm39) |
K111N |
probably damaging |
Het |
Arhgap39 |
G |
A |
15: 76,621,237 (GRCm39) |
R455C |
probably damaging |
Het |
Brcc3 |
A |
G |
X: 74,466,389 (GRCm39) |
D67G |
possibly damaging |
Het |
Crot |
T |
G |
5: 9,020,046 (GRCm39) |
|
probably benign |
Het |
Dipk1c |
A |
T |
18: 84,754,950 (GRCm39) |
D142V |
probably damaging |
Het |
Dusp5 |
A |
G |
19: 53,525,937 (GRCm39) |
H193R |
probably damaging |
Het |
Ect2 |
G |
A |
3: 27,176,193 (GRCm39) |
R644* |
probably null |
Het |
Fam3c |
A |
G |
6: 22,343,276 (GRCm39) |
M1T |
probably null |
Het |
Kif4 |
A |
G |
X: 99,681,960 (GRCm39) |
N197S |
probably benign |
Het |
Krt1c |
T |
C |
15: 101,724,939 (GRCm39) |
N224D |
probably damaging |
Het |
Lama1 |
A |
G |
17: 68,071,720 (GRCm39) |
H869R |
probably benign |
Het |
Lrrc14 |
G |
T |
15: 76,597,942 (GRCm39) |
R224L |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,393,724 (GRCm39) |
D864G |
probably damaging |
Het |
Map3k11 |
C |
T |
19: 5,747,651 (GRCm39) |
S603F |
possibly damaging |
Het |
Mxra7 |
A |
G |
11: 116,702,747 (GRCm39) |
|
probably null |
Het |
Myo5b |
C |
A |
18: 74,850,070 (GRCm39) |
D1139E |
probably damaging |
Het |
Nek9 |
T |
C |
12: 85,376,697 (GRCm39) |
Y228C |
probably damaging |
Het |
Nxph1 |
T |
C |
6: 9,247,743 (GRCm39) |
I238T |
probably damaging |
Het |
Or2r11 |
T |
C |
6: 42,437,758 (GRCm39) |
H65R |
probably benign |
Het |
Or5ac17 |
A |
G |
16: 59,036,310 (GRCm39) |
L222P |
probably damaging |
Het |
Or9i1 |
T |
A |
19: 13,839,595 (GRCm39) |
V146E |
possibly damaging |
Het |
Pdpn |
A |
G |
4: 142,997,140 (GRCm39) |
|
probably benign |
Het |
Plbd2 |
T |
C |
5: 120,626,623 (GRCm39) |
T329A |
probably damaging |
Het |
Ptpn6 |
T |
C |
6: 124,709,449 (GRCm39) |
D8G |
probably damaging |
Het |
Rad54l2 |
T |
C |
9: 106,631,239 (GRCm39) |
D16G |
possibly damaging |
Het |
Slc43a3 |
A |
G |
2: 84,768,585 (GRCm39) |
E68G |
probably damaging |
Het |
Snph |
G |
A |
2: 151,442,902 (GRCm39) |
R16C |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,555,560 (GRCm39) |
R28736* |
probably null |
Het |
Vmn1r18 |
G |
A |
6: 57,366,741 (GRCm39) |
A271V |
probably benign |
Het |
|
Other mutations in Epn3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03172:Epn3
|
APN |
11 |
94,382,456 (GRCm39) |
missense |
possibly damaging |
0.92 |
PIT4362001:Epn3
|
UTSW |
11 |
94,387,349 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4418001:Epn3
|
UTSW |
11 |
94,386,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R4893:Epn3
|
UTSW |
11 |
94,382,822 (GRCm39) |
missense |
probably damaging |
0.99 |
R5173:Epn3
|
UTSW |
11 |
94,386,923 (GRCm39) |
missense |
probably damaging |
0.97 |
R6526:Epn3
|
UTSW |
11 |
94,385,758 (GRCm39) |
critical splice donor site |
probably null |
|
R6882:Epn3
|
UTSW |
11 |
94,382,186 (GRCm39) |
missense |
probably benign |
0.00 |
R7120:Epn3
|
UTSW |
11 |
94,383,254 (GRCm39) |
missense |
probably benign |
0.41 |
R7326:Epn3
|
UTSW |
11 |
94,384,606 (GRCm39) |
missense |
probably benign |
0.02 |
R7861:Epn3
|
UTSW |
11 |
94,387,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R8373:Epn3
|
UTSW |
11 |
94,383,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R8507:Epn3
|
UTSW |
11 |
94,384,602 (GRCm39) |
missense |
probably damaging |
0.99 |
R8742:Epn3
|
UTSW |
11 |
94,386,921 (GRCm39) |
missense |
probably damaging |
1.00 |
R8757:Epn3
|
UTSW |
11 |
94,386,848 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8759:Epn3
|
UTSW |
11 |
94,386,848 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8774:Epn3
|
UTSW |
11 |
94,383,220 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8774-TAIL:Epn3
|
UTSW |
11 |
94,383,220 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8983:Epn3
|
UTSW |
11 |
94,386,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R9040:Epn3
|
UTSW |
11 |
94,382,749 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9651:Epn3
|
UTSW |
11 |
94,383,687 (GRCm39) |
critical splice donor site |
probably null |
|
T0975:Epn3
|
UTSW |
11 |
94,382,733 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2014-05-07 |