Incidental Mutation 'R6430:Espnl'
| ID |
518465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Espnl
|
| Ensembl Gene |
ENSMUSG00000049515 |
| Gene Name |
espin-like |
| Synonyms |
LOC227357 |
| MMRRC Submission |
044568-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6430 (G1)
|
| Quality Score |
103.008 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
91249797-91276028 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91249970 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 39
(L39P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027532]
[ENSMUST00000088904]
[ENSMUST00000176156]
|
| AlphaFold |
Q3UYR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027532
|
| SMART Domains |
Protein: ENSMUSP00000027532
Gene: ENSMUSG00000026307
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Aminotran_5
|
20 |
417 |
1.7e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088904
AA Change: L39P
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000086294
Gene: ENSMUSG00000049515
AA Change: L39P
| 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 |
noncoding transcript
Transcript: ENSMUST00000171768
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176156
AA Change: L39P
PolyPhen 2
Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000135828
Gene: ENSMUSG00000049515
AA Change: L39P
| 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 |
|
| Meta Mutation Damage Score |
0.2101 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI661453 |
C |
A |
17: 47,777,722 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,622,125 (GRCm39) |
L1513Q |
probably damaging |
Het |
| Ap2a1 |
C |
A |
7: 44,553,253 (GRCm39) |
V676L |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,261,575 (GRCm39) |
V477A |
probably benign |
Het |
| Auh |
C |
A |
13: 53,083,446 (GRCm39) |
G17C |
probably benign |
Het |
| B3gnt7 |
T |
C |
1: 86,233,839 (GRCm39) |
F362L |
possibly damaging |
Het |
| Cd207 |
C |
T |
6: 83,652,869 (GRCm39) |
R87H |
probably benign |
Het |
| Cdyl |
A |
G |
13: 36,055,589 (GRCm39) |
K503R |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,770,419 (GRCm39) |
S1824P |
probably damaging |
Het |
| Cmas |
T |
A |
6: 142,713,650 (GRCm39) |
M225K |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 113,081,153 (GRCm39) |
S396P |
possibly damaging |
Het |
| Epg5 |
T |
C |
18: 78,019,100 (GRCm39) |
S958P |
probably damaging |
Het |
| Fcsk |
A |
G |
8: 111,610,748 (GRCm39) |
V915A |
probably benign |
Het |
| Flacc1 |
T |
A |
1: 58,717,448 (GRCm39) |
K154N |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,544,345 (GRCm39) |
N438D |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,266,707 (GRCm39) |
C1932R |
probably damaging |
Het |
| Jmjd1c |
C |
T |
10: 67,059,939 (GRCm39) |
T662I |
possibly damaging |
Het |
| Kcng4 |
A |
G |
8: 120,359,789 (GRCm39) |
S196P |
probably damaging |
Het |
| Kcnh7 |
T |
G |
2: 62,680,876 (GRCm39) |
H237P |
probably benign |
Het |
| Klhl38 |
T |
C |
15: 58,185,707 (GRCm39) |
T341A |
probably benign |
Het |
| Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
| Man2c1 |
T |
C |
9: 57,038,517 (GRCm39) |
V59A |
possibly damaging |
Het |
| Nr2c1 |
A |
T |
10: 94,031,203 (GRCm39) |
H588L |
possibly damaging |
Het |
| Or14a259 |
A |
T |
7: 86,013,181 (GRCm39) |
Y121* |
probably null |
Het |
| Or2j3 |
T |
C |
17: 38,616,249 (GRCm39) |
I34M |
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,409,620 (GRCm39) |
E494G |
probably damaging |
Het |
| Per1 |
T |
C |
11: 68,995,122 (GRCm39) |
L638S |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,306,261 (GRCm39) |
E603G |
probably benign |
Het |
| Prss12 |
A |
T |
3: 123,273,243 (GRCm39) |
S280C |
probably damaging |
Het |
| Pudp |
A |
G |
18: 50,701,307 (GRCm39) |
I142T |
probably benign |
Het |
| Rabl6 |
A |
T |
2: 25,474,849 (GRCm39) |
N620K |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,039,809 (GRCm39) |
C837S |
probably null |
Het |
| Slc16a7 |
A |
G |
10: 125,066,887 (GRCm39) |
S251P |
probably damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,897,083 (GRCm39) |
I195V |
probably benign |
Het |
| Slc9a4 |
A |
T |
1: 40,640,014 (GRCm39) |
R269* |
probably null |
Het |
| Slco6c1 |
T |
A |
1: 97,003,699 (GRCm39) |
Q466L |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,359,235 (GRCm39) |
N953S |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,061,329 (GRCm39) |
V527A |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,179,947 (GRCm39) |
Y808C |
probably damaging |
Het |
| Tmem145 |
T |
C |
7: 25,008,463 (GRCm39) |
L289P |
possibly damaging |
Het |
| Trim3 |
A |
G |
7: 105,267,212 (GRCm39) |
V389A |
probably benign |
Het |
| Vmn1r3 |
G |
A |
4: 3,184,971 (GRCm39) |
T112I |
probably benign |
Het |
| Vps11 |
C |
A |
9: 44,272,847 (GRCm39) |
A28S |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,374,945 (GRCm39) |
S802T |
probably benign |
Het |
| Zmynd10 |
A |
T |
9: 107,425,911 (GRCm39) |
K82* |
probably null |
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 |
|
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'- TTATCAGGTAACCAGAGCCTTCAG -3'
(R):5'- GTTCTAGCTTACCTGCAGCC -3'
Sequencing Primer
(F):5'- CTTCAGCAGCGTCCACG -3'
(R):5'- CATCGTGCACTGGTGTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation