Incidental Mutation 'R6652:Espnl'
| ID |
528077 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Espnl
|
| Ensembl Gene |
ENSMUSG00000049515 |
| Gene Name |
espin-like |
| Synonyms |
LOC227357 |
| MMRRC Submission |
044773-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6652 (G1)
|
| Quality Score |
177.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
91249797-91276028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 91272421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 594
(I594L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086294
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088904]
[ENSMUST00000176156]
|
| AlphaFold |
Q3UYR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088904
AA Change: I594L
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000086294
Gene: ENSMUSG00000049515
AA Change: I594L
| 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: I550L
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000135828
Gene: ENSMUSG00000049515
AA Change: I550L
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,164 (GRCm39) |
D605G |
probably damaging |
Het |
| Cfh |
A |
T |
1: 140,071,806 (GRCm39) |
I294N |
probably benign |
Het |
| Clk3 |
A |
G |
9: 57,669,078 (GRCm39) |
S49P |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,229,403 (GRCm39) |
V1895A |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,229,547 (GRCm39) |
D1847G |
probably damaging |
Het |
| Cwf19l1 |
T |
C |
19: 44,103,138 (GRCm39) |
D359G |
probably benign |
Het |
| Dag1 |
A |
T |
9: 108,086,289 (GRCm39) |
M284K |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,091,079 (GRCm39) |
Y211C |
probably damaging |
Het |
| Fam193b |
A |
G |
13: 55,690,603 (GRCm39) |
S226P |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,143,088 (GRCm39) |
I4254L |
probably benign |
Het |
| Fhdc1 |
T |
C |
3: 84,371,631 (GRCm39) |
Y108C |
probably damaging |
Het |
| Fut9 |
G |
C |
4: 25,620,619 (GRCm39) |
T65S |
probably benign |
Het |
| Gm9507 |
A |
T |
10: 77,647,493 (GRCm39) |
|
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Grap2 |
A |
T |
15: 80,532,723 (GRCm39) |
N297Y |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,891,609 (GRCm39) |
F2302S |
probably damaging |
Het |
| Ighv1-81 |
T |
A |
12: 115,884,051 (GRCm39) |
I67F |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,060,059 (GRCm39) |
|
probably null |
Het |
| Kti12 |
T |
A |
4: 108,705,730 (GRCm39) |
S215T |
probably benign |
Het |
| Mc1r |
G |
A |
8: 124,134,370 (GRCm39) |
G41D |
probably damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,878,105 (GRCm39) |
Y129C |
probably damaging |
Het |
| Mthfsd |
A |
T |
8: 121,825,560 (GRCm39) |
L337Q |
probably damaging |
Het |
| Musk |
C |
T |
4: 58,368,977 (GRCm39) |
A629V |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,364,955 (GRCm39) |
M250K |
probably benign |
Het |
| Ncapd2 |
G |
A |
6: 125,163,233 (GRCm39) |
H92Y |
probably benign |
Het |
| Or4e5 |
C |
T |
14: 52,728,250 (GRCm39) |
R57Q |
probably benign |
Het |
| Or6y1 |
G |
A |
1: 174,276,627 (GRCm39) |
C146Y |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,063,974 (GRCm39) |
V2100E |
probably damaging |
Het |
| Prss37 |
C |
A |
6: 40,496,090 (GRCm39) |
|
probably benign |
Het |
| Sebox |
A |
T |
11: 78,394,631 (GRCm39) |
E32V |
probably damaging |
Het |
| Senp7 |
C |
A |
16: 55,944,257 (GRCm39) |
Q194K |
probably benign |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Spart |
G |
A |
3: 55,032,248 (GRCm39) |
E361K |
probably benign |
Het |
| Stn1 |
T |
C |
19: 47,496,017 (GRCm39) |
T334A |
probably benign |
Het |
| Stoml1 |
A |
G |
9: 58,164,017 (GRCm39) |
D112G |
probably damaging |
Het |
| Thap2 |
T |
A |
10: 115,212,441 (GRCm39) |
D28V |
probably damaging |
Het |
| Ubap2 |
A |
T |
4: 41,196,743 (GRCm39) |
N872K |
possibly damaging |
Het |
| Vezt |
A |
G |
10: 93,806,141 (GRCm39) |
F757L |
probably damaging |
Het |
| Vmn1r204 |
T |
C |
13: 22,740,573 (GRCm39) |
I68T |
probably damaging |
Het |
| Wnt10a |
A |
G |
1: 74,842,613 (GRCm39) |
|
probably null |
Het |
| Yipf7 |
A |
G |
5: 69,698,504 (GRCm39) |
M1T |
probably null |
Het |
| Zdhhc19 |
T |
C |
16: 32,316,047 (GRCm39) |
F48S |
probably damaging |
Het |
| Zfp317 |
C |
T |
9: 19,558,335 (GRCm39) |
T183I |
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 |
|
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 |
|
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'- AGAAGCAGATCAACGACCTG -3'
(R):5'- AACTGACACTCCGCACTCTTG -3'
Sequencing Primer
(F):5'- GACGCTGCCAGGAGTATG -3'
(R):5'- ACTCTTGGATCTCGCGCTGG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation