Incidental Mutation 'IGL03073:Espnl'
ID |
417596 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Espnl
|
Ensembl Gene |
ENSMUSG00000049515 |
Gene Name |
espin-like |
Synonyms |
LOC227357 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03073
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
91249797-91276028 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 91272278 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 502
(I502T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135828
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088904]
[ENSMUST00000176156]
|
AlphaFold |
Q3UYR4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088904
AA Change: I546T
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000086294 Gene: ENSMUSG00000049515 AA Change: I546T
Domain | Start | End | E-Value | Type |
Blast:ANK
|
1 |
33 |
4e-7 |
BLAST |
ANK
|
35 |
64 |
5.21e1 |
SMART |
ANK
|
69 |
102 |
2.88e2 |
SMART |
ANK
|
103 |
132 |
3.85e-2 |
SMART |
ANK
|
136 |
166 |
7.08e-1 |
SMART |
ANK
|
170 |
200 |
1.02e-1 |
SMART |
ANK
|
204 |
232 |
3.04e0 |
SMART |
ANK
|
238 |
267 |
5.01e-1 |
SMART |
ANK
|
270 |
299 |
1.96e-3 |
SMART |
ANK
|
303 |
332 |
3.21e1 |
SMART |
low complexity region
|
336 |
345 |
N/A |
INTRINSIC |
coiled coil region
|
509 |
538 |
N/A |
INTRINSIC |
low complexity region
|
820 |
833 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176156
AA Change: I502T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000135828 Gene: ENSMUSG00000049515 AA Change: I502T
Domain | Start | End | E-Value | Type |
Blast:ANK
|
1 |
33 |
5e-7 |
BLAST |
ANK
|
35 |
64 |
5.21e1 |
SMART |
ANK
|
69 |
102 |
2.88e2 |
SMART |
ANK
|
103 |
132 |
3.85e-2 |
SMART |
ANK
|
136 |
166 |
7.08e-1 |
SMART |
ANK
|
170 |
200 |
1.02e-1 |
SMART |
ANK
|
204 |
232 |
3.04e0 |
SMART |
ANK
|
238 |
267 |
5.01e-1 |
SMART |
low complexity region
|
292 |
301 |
N/A |
INTRINSIC |
coiled coil region
|
465 |
494 |
N/A |
INTRINSIC |
low complexity region
|
776 |
789 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933440M02Rik |
T |
C |
7: 124,930,735 (GRCm39) |
|
noncoding transcript |
Het |
Actr6 |
A |
G |
10: 89,562,556 (GRCm39) |
S108P |
probably damaging |
Het |
Adam34 |
A |
T |
8: 44,103,940 (GRCm39) |
N568K |
probably damaging |
Het |
Anpep |
A |
G |
7: 79,488,703 (GRCm39) |
L408P |
probably damaging |
Het |
Atp13a1 |
T |
C |
8: 70,251,152 (GRCm39) |
V459A |
probably damaging |
Het |
Atp2b1 |
C |
T |
10: 98,835,713 (GRCm39) |
T486M |
probably damaging |
Het |
Cdc42bpa |
T |
A |
1: 179,921,941 (GRCm39) |
|
probably benign |
Het |
Fancm |
T |
C |
12: 65,148,406 (GRCm39) |
Y674H |
probably damaging |
Het |
Gnaq |
T |
A |
19: 16,293,470 (GRCm39) |
N137K |
probably benign |
Het |
Igf1r |
T |
A |
7: 67,864,791 (GRCm39) |
D1196E |
probably damaging |
Het |
Insrr |
A |
G |
3: 87,717,245 (GRCm39) |
|
probably benign |
Het |
Lypd9 |
A |
T |
11: 58,338,277 (GRCm39) |
D38E |
probably damaging |
Het |
Mcf2l |
C |
A |
8: 13,050,004 (GRCm39) |
H313N |
probably damaging |
Het |
Mdh1b |
C |
T |
1: 63,760,646 (GRCm39) |
|
probably null |
Het |
Mrc1 |
G |
A |
2: 14,310,153 (GRCm39) |
V805I |
probably damaging |
Het |
Ncam2 |
T |
G |
16: 81,418,235 (GRCm39) |
D763E |
possibly damaging |
Het |
Ncapg2 |
T |
G |
12: 116,415,894 (GRCm39) |
H1091Q |
probably benign |
Het |
Or5b112 |
T |
G |
19: 13,319,386 (GRCm39) |
I88R |
probably benign |
Het |
Or8h8 |
A |
G |
2: 86,753,697 (GRCm39) |
Y60H |
probably damaging |
Het |
Pcdh18 |
T |
A |
3: 49,707,816 (GRCm39) |
D886V |
possibly damaging |
Het |
Pdlim4 |
A |
G |
11: 53,954,467 (GRCm39) |
V21A |
probably damaging |
Het |
Safb2 |
A |
G |
17: 56,878,289 (GRCm39) |
S24P |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,329,195 (GRCm39) |
M940T |
probably benign |
Het |
Snx14 |
A |
G |
9: 88,304,949 (GRCm39) |
|
probably null |
Het |
Sox1 |
T |
C |
8: 12,446,625 (GRCm39) |
W89R |
probably damaging |
Het |
Stx12 |
T |
C |
4: 132,585,760 (GRCm39) |
M207V |
probably benign |
Het |
Tex14 |
A |
G |
11: 87,426,435 (GRCm39) |
T1154A |
probably damaging |
Het |
Tmcc3 |
T |
G |
10: 94,414,813 (GRCm39) |
S172A |
probably benign |
Het |
Tnc |
T |
A |
4: 63,889,461 (GRCm39) |
I1773F |
possibly damaging |
Het |
Tshz3 |
A |
T |
7: 36,470,170 (GRCm39) |
N720Y |
probably damaging |
Het |
Usp19 |
G |
A |
9: 108,373,002 (GRCm39) |
|
probably benign |
Het |
Vmn1r170 |
A |
C |
7: 23,306,273 (GRCm39) |
Q225P |
probably damaging |
Het |
Vmn2r89 |
A |
G |
14: 51,693,528 (GRCm39) |
I293V |
possibly damaging |
Het |
|
Other mutations in Espnl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01310:Espnl
|
APN |
1 |
91,268,333 (GRCm39) |
nonsense |
probably null |
|
IGL01726:Espnl
|
APN |
1 |
91,272,626 (GRCm39) |
missense |
probably benign |
|
IGL02402:Espnl
|
APN |
1 |
91,272,535 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02472:Espnl
|
APN |
1 |
91,268,256 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02986:Espnl
|
APN |
1 |
91,272,572 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03037:Espnl
|
APN |
1 |
91,269,643 (GRCm39) |
missense |
probably benign |
0.01 |
R0111:Espnl
|
UTSW |
1 |
91,272,464 (GRCm39) |
missense |
probably benign |
0.29 |
R0197:Espnl
|
UTSW |
1 |
91,272,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R0238:Espnl
|
UTSW |
1 |
91,250,009 (GRCm39) |
missense |
probably damaging |
0.97 |
R0239:Espnl
|
UTSW |
1 |
91,250,009 (GRCm39) |
missense |
probably damaging |
0.97 |
R0239:Espnl
|
UTSW |
1 |
91,250,009 (GRCm39) |
missense |
probably damaging |
0.97 |
R0665:Espnl
|
UTSW |
1 |
91,262,409 (GRCm39) |
splice site |
probably null |
|
R1772:Espnl
|
UTSW |
1 |
91,272,325 (GRCm39) |
missense |
possibly damaging |
0.61 |
R3804:Espnl
|
UTSW |
1 |
91,249,943 (GRCm39) |
missense |
probably benign |
0.00 |
R4352:Espnl
|
UTSW |
1 |
91,262,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R4566:Espnl
|
UTSW |
1 |
91,272,301 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4790:Espnl
|
UTSW |
1 |
91,272,146 (GRCm39) |
missense |
probably damaging |
1.00 |
R5234:Espnl
|
UTSW |
1 |
91,272,515 (GRCm39) |
missense |
probably benign |
0.02 |
R6430:Espnl
|
UTSW |
1 |
91,249,970 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6652:Espnl
|
UTSW |
1 |
91,272,421 (GRCm39) |
missense |
probably benign |
0.13 |
R6785:Espnl
|
UTSW |
1 |
91,249,943 (GRCm39) |
missense |
probably benign |
0.00 |
R6800:Espnl
|
UTSW |
1 |
91,270,351 (GRCm39) |
missense |
probably damaging |
0.98 |
R7082:Espnl
|
UTSW |
1 |
91,262,521 (GRCm39) |
missense |
probably benign |
0.00 |
R7311:Espnl
|
UTSW |
1 |
91,251,290 (GRCm39) |
missense |
probably damaging |
0.98 |
R7376:Espnl
|
UTSW |
1 |
91,250,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R7880:Espnl
|
UTSW |
1 |
91,272,488 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8154:Espnl
|
UTSW |
1 |
91,252,921 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8739:Espnl
|
UTSW |
1 |
91,272,317 (GRCm39) |
missense |
probably damaging |
0.96 |
R9266:Espnl
|
UTSW |
1 |
91,272,771 (GRCm39) |
missense |
probably benign |
0.40 |
R9354:Espnl
|
UTSW |
1 |
91,272,323 (GRCm39) |
missense |
probably benign |
0.00 |
R9428:Espnl
|
UTSW |
1 |
91,273,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R9798:Espnl
|
UTSW |
1 |
91,251,286 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Espnl
|
UTSW |
1 |
91,251,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |