Incidental Mutation 'R4566:Espnl'
| ID |
343309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Espnl
|
| Ensembl Gene |
ENSMUSG00000049515 |
| Gene Name |
espin-like |
| Synonyms |
LOC227357 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4566 (G1)
|
| Quality Score |
87 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
91249797-91276028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 91272301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 510
(P510T)
|
| 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: P554T
PolyPhen 2
Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000086294
Gene: ENSMUSG00000049515
AA Change: P554T
| 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 |
possibly damaging
Transcript: ENSMUST00000176156
AA Change: P510T
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135828
Gene: ENSMUSG00000049515
AA Change: P510T
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,567,927 (GRCm39) |
E5082G |
probably damaging |
Het |
| Apol7a |
A |
T |
15: 77,273,951 (GRCm39) |
Y170* |
probably null |
Het |
| Cfhr1 |
T |
A |
1: 139,481,386 (GRCm39) |
I165F |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Fbxw4 |
A |
G |
19: 45,580,225 (GRCm39) |
V258A |
probably benign |
Het |
| Foxq1 |
T |
C |
13: 31,743,471 (GRCm39) |
M191T |
probably benign |
Het |
| Gabrg1 |
A |
T |
5: 70,999,484 (GRCm39) |
L22I |
probably benign |
Het |
| Limk1 |
A |
G |
5: 134,715,537 (GRCm39) |
L38P |
probably benign |
Het |
| Mfhas1 |
C |
T |
8: 36,058,203 (GRCm39) |
R893C |
probably damaging |
Het |
| Mug2 |
G |
A |
6: 122,056,597 (GRCm39) |
V1181I |
probably benign |
Het |
| Or52ac1 |
A |
T |
7: 104,245,823 (GRCm39) |
C188* |
probably null |
Het |
| Pithd1 |
A |
G |
4: 135,704,548 (GRCm39) |
V56A |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,494,338 (GRCm39) |
K93E |
probably benign |
Het |
| Ppp2cb |
T |
C |
8: 34,100,723 (GRCm39) |
V48A |
possibly damaging |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Rrs1 |
T |
C |
1: 9,616,452 (GRCm39) |
F235S |
probably damaging |
Het |
| Rtl1 |
G |
A |
12: 109,559,293 (GRCm39) |
L849F |
probably damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Trps1 |
A |
G |
15: 50,695,074 (GRCm39) |
V116A |
probably damaging |
Het |
| Vmn2r51 |
C |
T |
7: 9,836,341 (GRCm39) |
E147K |
probably benign |
Het |
| Yy1 |
T |
A |
12: 108,778,889 (GRCm39) |
I296K |
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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGGAGATATTCACAGACGCACC -3'
(R):5'- TGAGGGTGGTTTCTCCTCAC -3'
Sequencing Primer
(F):5'- ATCCTGGGCCCCTTTGGAG -3'
(R):5'- GGTGGTTTCTCCTCACCCTGTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation