Incidental Mutation 'IGL02986:Espnl'
ID |
406706 |
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 # |
IGL02986
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
91249797-91276028 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 91272572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 600
(Q600L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135828
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088904]
[ENSMUST00000176156]
|
AlphaFold |
Q3UYR4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000088904
AA Change: Q644L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000086294 Gene: ENSMUSG00000049515 AA Change: Q644L
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 benign
Transcript: ENSMUST00000176156
AA Change: Q600L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000135828 Gene: ENSMUSG00000049515 AA Change: Q600L
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrn |
A |
G |
4: 156,263,311 (GRCm39) |
V264A |
possibly damaging |
Het |
Akr1c6 |
G |
T |
13: 4,486,414 (GRCm39) |
V74L |
probably benign |
Het |
Atp10a |
T |
G |
7: 58,478,469 (GRCm39) |
V1504G |
probably benign |
Het |
Ccng1 |
A |
G |
11: 40,641,690 (GRCm39) |
|
probably benign |
Het |
Celsr3 |
A |
T |
9: 108,718,454 (GRCm39) |
|
probably null |
Het |
Coro1b |
T |
C |
19: 4,199,470 (GRCm39) |
V43A |
possibly damaging |
Het |
Dab1 |
A |
G |
4: 104,336,418 (GRCm39) |
T5A |
probably benign |
Het |
Dennd5a |
C |
T |
7: 109,534,731 (GRCm39) |
A47T |
probably benign |
Het |
Dgkb |
A |
G |
12: 38,150,399 (GRCm39) |
T69A |
possibly damaging |
Het |
Dhx37 |
G |
A |
5: 125,496,379 (GRCm39) |
P721L |
probably damaging |
Het |
Efr3b |
T |
C |
12: 4,016,495 (GRCm39) |
N641D |
probably benign |
Het |
Esyt1 |
A |
G |
10: 128,352,626 (GRCm39) |
V693A |
probably damaging |
Het |
Fscn2 |
A |
G |
11: 120,258,176 (GRCm39) |
D366G |
possibly damaging |
Het |
Gcsam |
C |
A |
16: 45,440,366 (GRCm39) |
F136L |
probably benign |
Het |
Gm10643 |
A |
T |
8: 84,790,887 (GRCm39) |
|
probably benign |
Het |
Habp2 |
A |
T |
19: 56,299,624 (GRCm39) |
D174V |
probably benign |
Het |
Hgfac |
T |
C |
5: 35,201,207 (GRCm39) |
V210A |
probably benign |
Het |
Hipk3 |
T |
C |
2: 104,264,086 (GRCm39) |
D804G |
probably damaging |
Het |
L3mbtl1 |
T |
C |
2: 162,812,225 (GRCm39) |
W757R |
probably damaging |
Het |
Lrrfip2 |
A |
G |
9: 110,990,461 (GRCm39) |
|
probably null |
Het |
Ly75 |
T |
C |
2: 60,138,535 (GRCm39) |
D1444G |
probably damaging |
Het |
Mars1 |
A |
G |
10: 127,133,438 (GRCm39) |
V765A |
probably benign |
Het |
Med1 |
A |
G |
11: 98,047,086 (GRCm39) |
|
probably benign |
Het |
Msln |
G |
A |
17: 25,971,907 (GRCm39) |
|
probably benign |
Het |
Nup188 |
T |
A |
2: 30,197,645 (GRCm39) |
|
probably null |
Het |
Or1p1c |
T |
G |
11: 74,160,928 (GRCm39) |
F238V |
possibly damaging |
Het |
Or7e173 |
A |
T |
9: 19,939,007 (GRCm39) |
F76I |
probably benign |
Het |
Otop2 |
T |
A |
11: 115,220,393 (GRCm39) |
M411K |
probably benign |
Het |
Picalm |
A |
G |
7: 89,856,793 (GRCm39) |
I649M |
probably benign |
Het |
Plekha8 |
T |
C |
6: 54,606,851 (GRCm39) |
L382P |
probably damaging |
Het |
Pspn |
A |
G |
17: 57,306,853 (GRCm39) |
|
probably benign |
Het |
Rnf215 |
A |
G |
11: 4,089,793 (GRCm39) |
T269A |
probably damaging |
Het |
Rps6kc1 |
A |
T |
1: 190,566,258 (GRCm39) |
L329Q |
probably damaging |
Het |
Srms |
T |
A |
2: 180,854,290 (GRCm39) |
R92S |
possibly damaging |
Het |
Ssxb10 |
C |
A |
X: 8,201,845 (GRCm39) |
S157* |
probably null |
Het |
Tfap2c |
T |
C |
2: 172,399,171 (GRCm39) |
S448P |
probably damaging |
Het |
Thsd7b |
A |
G |
1: 129,843,352 (GRCm39) |
N855D |
probably benign |
Het |
Timeless |
A |
C |
10: 128,085,629 (GRCm39) |
D887A |
possibly damaging |
Het |
Tyms |
T |
C |
5: 30,266,997 (GRCm39) |
Y169C |
probably damaging |
Het |
Unc45b |
T |
A |
11: 82,808,005 (GRCm39) |
C207S |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,611,147 (GRCm39) |
F1390S |
probably damaging |
Het |
Vmn2r53 |
A |
T |
7: 12,315,393 (GRCm39) |
|
probably benign |
Het |
Zfp369 |
A |
T |
13: 65,428,095 (GRCm39) |
D18V |
probably 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 |
IGL03037:Espnl
|
APN |
1 |
91,269,643 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03073:Espnl
|
APN |
1 |
91,272,278 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |