Incidental Mutation 'IGL02986:Esyt1'
ID |
406721 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Esyt1
|
Ensembl Gene |
ENSMUSG00000025366 |
Gene Name |
extended synaptotagmin-like protein 1 |
Synonyms |
Mbc2, Fam62a, vp115 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
IGL02986
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
128346117-128361728 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128352626 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 693
(V693A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026427]
|
AlphaFold |
Q3U7R1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026427
AA Change: V693A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000026427 Gene: ENSMUSG00000025366 AA Change: V693A
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
Pfam:SMP_LBD
|
125 |
303 |
4.3e-80 |
PFAM |
C2
|
320 |
422 |
1.27e-17 |
SMART |
C2
|
469 |
563 |
4.62e-11 |
SMART |
C2
|
635 |
737 |
4.05e-25 |
SMART |
C2
|
786 |
879 |
3.05e-11 |
SMART |
low complexity region
|
909 |
921 |
N/A |
INTRINSIC |
C2
|
975 |
1080 |
1.51e-15 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184514
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217948
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218092
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220045
|
Predicted Effect |
unknown
Transcript: ENSMUST00000220429
AA Change: V299A
|
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 |
Espnl |
A |
T |
1: 91,272,572 (GRCm39) |
Q600L |
probably benign |
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 Esyt1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00434:Esyt1
|
APN |
10 |
128,353,504 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL00518:Esyt1
|
APN |
10 |
128,357,743 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00534:Esyt1
|
APN |
10 |
128,351,553 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00578:Esyt1
|
APN |
10 |
128,347,612 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00899:Esyt1
|
APN |
10 |
128,352,932 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01308:Esyt1
|
APN |
10 |
128,355,660 (GRCm39) |
missense |
possibly damaging |
0.62 |
IGL01373:Esyt1
|
APN |
10 |
128,354,810 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01476:Esyt1
|
APN |
10 |
128,347,363 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01655:Esyt1
|
APN |
10 |
128,358,181 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02302:Esyt1
|
APN |
10 |
128,348,236 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02441:Esyt1
|
APN |
10 |
128,348,293 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02550:Esyt1
|
APN |
10 |
128,357,962 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02653:Esyt1
|
APN |
10 |
128,346,877 (GRCm39) |
missense |
probably benign |
|
IGL02948:Esyt1
|
APN |
10 |
128,355,040 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03033:Esyt1
|
APN |
10 |
128,352,252 (GRCm39) |
missense |
probably benign |
0.00 |
R0039:Esyt1
|
UTSW |
10 |
128,356,831 (GRCm39) |
missense |
probably damaging |
0.99 |
R0285:Esyt1
|
UTSW |
10 |
128,348,087 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0453:Esyt1
|
UTSW |
10 |
128,348,078 (GRCm39) |
missense |
probably benign |
0.00 |
R1123:Esyt1
|
UTSW |
10 |
128,352,427 (GRCm39) |
missense |
probably benign |
0.35 |
R1496:Esyt1
|
UTSW |
10 |
128,348,297 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1569:Esyt1
|
UTSW |
10 |
128,354,863 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1691:Esyt1
|
UTSW |
10 |
128,361,403 (GRCm39) |
missense |
probably benign |
0.01 |
R1813:Esyt1
|
UTSW |
10 |
128,355,487 (GRCm39) |
missense |
probably benign |
|
R1827:Esyt1
|
UTSW |
10 |
128,352,238 (GRCm39) |
missense |
probably benign |
0.01 |
R2038:Esyt1
|
UTSW |
10 |
128,347,820 (GRCm39) |
missense |
probably benign |
0.00 |
R2039:Esyt1
|
UTSW |
10 |
128,347,820 (GRCm39) |
missense |
probably benign |
0.00 |
R2115:Esyt1
|
UTSW |
10 |
128,357,973 (GRCm39) |
missense |
probably damaging |
0.99 |
R2696:Esyt1
|
UTSW |
10 |
128,352,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R3919:Esyt1
|
UTSW |
10 |
128,356,905 (GRCm39) |
unclassified |
probably benign |
|
R3980:Esyt1
|
UTSW |
10 |
128,347,393 (GRCm39) |
missense |
probably damaging |
0.99 |
R4223:Esyt1
|
UTSW |
10 |
128,356,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R4225:Esyt1
|
UTSW |
10 |
128,356,517 (GRCm39) |
missense |
probably damaging |
1.00 |
R5249:Esyt1
|
UTSW |
10 |
128,352,443 (GRCm39) |
missense |
probably benign |
0.00 |
R5534:Esyt1
|
UTSW |
10 |
128,355,329 (GRCm39) |
missense |
probably benign |
0.07 |
R5704:Esyt1
|
UTSW |
10 |
128,347,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R6252:Esyt1
|
UTSW |
10 |
128,347,771 (GRCm39) |
missense |
probably benign |
0.01 |
R6431:Esyt1
|
UTSW |
10 |
128,352,543 (GRCm39) |
critical splice donor site |
probably null |
|
R7013:Esyt1
|
UTSW |
10 |
128,361,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R7102:Esyt1
|
UTSW |
10 |
128,352,105 (GRCm39) |
missense |
probably damaging |
0.98 |
R7152:Esyt1
|
UTSW |
10 |
128,351,629 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7570:Esyt1
|
UTSW |
10 |
128,354,801 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7700:Esyt1
|
UTSW |
10 |
128,351,723 (GRCm39) |
splice site |
probably benign |
|
R7732:Esyt1
|
UTSW |
10 |
128,357,694 (GRCm39) |
critical splice donor site |
probably null |
|
R8009:Esyt1
|
UTSW |
10 |
128,347,354 (GRCm39) |
missense |
probably benign |
0.01 |
R8049:Esyt1
|
UTSW |
10 |
128,347,955 (GRCm39) |
missense |
probably benign |
|
R8222:Esyt1
|
UTSW |
10 |
128,347,647 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8365:Esyt1
|
UTSW |
10 |
128,352,422 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8366:Esyt1
|
UTSW |
10 |
128,352,422 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8407:Esyt1
|
UTSW |
10 |
128,347,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R8962:Esyt1
|
UTSW |
10 |
128,356,566 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9209:Esyt1
|
UTSW |
10 |
128,361,356 (GRCm39) |
missense |
probably benign |
0.00 |
R9305:Esyt1
|
UTSW |
10 |
128,355,388 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9702:Esyt1
|
UTSW |
10 |
128,356,607 (GRCm39) |
missense |
probably damaging |
1.00 |
R9703:Esyt1
|
UTSW |
10 |
128,354,796 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2016-08-02 |