Incidental Mutation 'R5234:Espnl'
| ID |
398173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Espnl
|
| Ensembl Gene |
ENSMUSG00000049515 |
| Gene Name |
espin-like |
| Synonyms |
LOC227357 |
| MMRRC Submission |
042806-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5234 (G1)
|
| Quality Score |
203 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
91249797-91276028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91272515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 581
(D581G)
|
| 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: D625G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000086294
Gene: ENSMUSG00000049515
AA Change: D625G
| 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: D581G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000135828
Gene: ENSMUSG00000049515
AA Change: D581G
| 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: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,302,823 (GRCm39) |
T2132M |
probably damaging |
Het |
| Abca8b |
A |
T |
11: 109,867,420 (GRCm39) |
F213I |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Adamts6 |
A |
G |
13: 104,630,130 (GRCm39) |
Y1091C |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,588,230 (GRCm39) |
M586V |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 53,006,118 (GRCm39) |
S336P |
probably damaging |
Het |
| Atp1a4 |
A |
T |
1: 172,054,737 (GRCm39) |
I964K |
possibly damaging |
Het |
| Bcan |
A |
T |
3: 87,903,453 (GRCm39) |
D246E |
probably damaging |
Het |
| Ccnf |
G |
A |
17: 24,453,411 (GRCm39) |
R343* |
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,741,404 (GRCm39) |
H2505R |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,242,930 (GRCm39) |
M72L |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,816,351 (GRCm39) |
T196A |
probably benign |
Het |
| Dnajc19 |
T |
A |
3: 34,112,108 (GRCm39) |
I146F |
probably benign |
Het |
| Fam167a |
T |
C |
14: 63,689,787 (GRCm39) |
L28P |
probably damaging |
Het |
| Fra10ac1 |
T |
C |
19: 38,204,294 (GRCm39) |
D94G |
probably damaging |
Het |
| Fut8 |
A |
G |
12: 77,379,004 (GRCm39) |
H35R |
probably benign |
Het |
| Gad1-ps |
T |
A |
10: 99,281,188 (GRCm39) |
|
noncoding transcript |
Het |
| Garin2 |
T |
A |
12: 78,762,045 (GRCm39) |
Y236* |
probably null |
Het |
| Idh2 |
A |
T |
7: 79,745,853 (GRCm39) |
V333E |
probably damaging |
Het |
| Inpp5f |
A |
G |
7: 128,265,407 (GRCm39) |
I121V |
probably benign |
Het |
| Itga1 |
A |
T |
13: 115,185,839 (GRCm39) |
Y54* |
probably null |
Het |
| Lax1 |
A |
G |
1: 133,608,321 (GRCm39) |
V140A |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,279,933 (GRCm39) |
F28L |
probably benign |
Het |
| Or12e10 |
T |
C |
2: 87,641,112 (GRCm39) |
V316A |
probably benign |
Het |
| Or1q1 |
T |
C |
2: 36,887,107 (GRCm39) |
V95A |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,627,666 (GRCm39) |
I1414V |
probably benign |
Het |
| Ppp1r14b |
A |
G |
19: 6,954,227 (GRCm39) |
E115G |
possibly damaging |
Het |
| Prune2 |
A |
G |
19: 17,096,032 (GRCm39) |
D512G |
probably damaging |
Het |
| Psmd11 |
A |
G |
11: 80,319,566 (GRCm39) |
I19V |
probably benign |
Het |
| Pthlh |
C |
A |
6: 147,158,592 (GRCm39) |
G123W |
probably damaging |
Het |
| Qars1 |
T |
A |
9: 108,391,364 (GRCm39) |
L572Q |
probably damaging |
Het |
| Rubcn |
T |
C |
16: 32,656,828 (GRCm39) |
I516V |
probably damaging |
Het |
| Sgsm3 |
A |
T |
15: 80,892,145 (GRCm39) |
S238C |
probably damaging |
Het |
| Slc25a22 |
C |
A |
7: 141,014,116 (GRCm39) |
|
probably benign |
Het |
| Slc4a1 |
G |
A |
11: 102,252,209 (GRCm39) |
R5W |
probably benign |
Het |
| Tie1 |
G |
A |
4: 118,339,959 (GRCm39) |
T356I |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,972,569 (GRCm39) |
H344Q |
possibly damaging |
Het |
| Tnrc6c |
G |
T |
11: 117,651,555 (GRCm39) |
V1693F |
probably benign |
Het |
| Topaz1 |
C |
T |
9: 122,619,258 (GRCm39) |
T1285M |
possibly damaging |
Het |
| Trank1 |
A |
T |
9: 111,215,535 (GRCm39) |
S1822C |
probably damaging |
Het |
| Ttll11 |
A |
C |
2: 35,830,745 (GRCm39) |
Y209D |
probably damaging |
Het |
| Unc45a |
C |
G |
7: 79,978,547 (GRCm39) |
A634P |
probably benign |
Het |
| Vmn2r4 |
C |
T |
3: 64,305,878 (GRCm39) |
V515I |
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 |
|
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 |
|
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'- TACCTGGAGAAGCAGATCAACG -3'
(R):5'- AGCAACCTCTCAGACACTGG -3'
Sequencing Primer
(F):5'- TGGTCAGCATCACCGTCAAC -3'
(R):5'- TCTCAGACACTGGCCAGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation