Incidental Mutation 'IGL01476:Esyt1'
ID |
88463 |
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 # |
IGL01476
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
128346117-128361728 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 128347363 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 1054
(M1054T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026427]
|
AlphaFold |
Q3U7R1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026427
AA Change: M1054T
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000026427 Gene: ENSMUSG00000025366 AA Change: M1054T
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 |
probably benign
Transcript: ENSMUST00000220429
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
Abcc10 |
A |
G |
17: 46,638,863 (GRCm39) |
|
probably benign |
Het |
Atp13a2 |
G |
A |
4: 140,728,081 (GRCm39) |
C558Y |
probably damaging |
Het |
Btbd1 |
G |
A |
7: 81,450,797 (GRCm39) |
R328* |
probably null |
Het |
Cdk8 |
A |
G |
5: 146,231,973 (GRCm39) |
|
probably null |
Het |
Chd8 |
A |
T |
14: 52,442,947 (GRCm39) |
N534K |
probably benign |
Het |
Cybc1 |
T |
C |
11: 121,116,671 (GRCm39) |
Y86C |
probably damaging |
Het |
Dlgap2 |
C |
T |
8: 14,828,301 (GRCm39) |
R570* |
probably null |
Het |
Eri2 |
A |
C |
7: 119,389,472 (GRCm39) |
F149V |
probably damaging |
Het |
Gcm2 |
A |
G |
13: 41,259,217 (GRCm39) |
V84A |
probably damaging |
Het |
Got1 |
A |
C |
19: 43,512,848 (GRCm39) |
V16G |
probably damaging |
Het |
Itga9 |
C |
T |
9: 118,436,179 (GRCm39) |
R62C |
probably damaging |
Het |
Kif21a |
T |
C |
15: 90,828,067 (GRCm39) |
R1232G |
possibly damaging |
Het |
Map1a |
A |
G |
2: 121,135,688 (GRCm39) |
Y1930C |
probably damaging |
Het |
Or1e25 |
T |
C |
11: 73,494,056 (GRCm39) |
S217P |
probably damaging |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Or2ag2b |
G |
A |
7: 106,417,827 (GRCm39) |
C179Y |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,571,122 (GRCm39) |
K169R |
probably damaging |
Het |
Rnf169 |
A |
C |
7: 99,604,691 (GRCm39) |
Y174D |
probably damaging |
Het |
Sarm1 |
T |
C |
11: 78,381,637 (GRCm39) |
E282G |
probably damaging |
Het |
Sec24a |
A |
G |
11: 51,599,783 (GRCm39) |
S840P |
possibly damaging |
Het |
Skor2 |
A |
T |
18: 76,946,362 (GRCm39) |
Q28L |
unknown |
Het |
Slc35f2 |
T |
C |
9: 53,713,990 (GRCm39) |
V168A |
possibly damaging |
Het |
Slc6a7 |
A |
T |
18: 61,138,845 (GRCm39) |
L221Q |
probably damaging |
Het |
Spata31e5 |
A |
T |
1: 28,816,534 (GRCm39) |
H499Q |
probably benign |
Het |
Syt4 |
A |
T |
18: 31,574,696 (GRCm39) |
V307E |
probably damaging |
Het |
Tasp1 |
A |
G |
2: 139,850,693 (GRCm39) |
L110S |
probably benign |
Het |
Thnsl1 |
T |
A |
2: 21,216,970 (GRCm39) |
D241E |
probably benign |
Het |
Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
Tpbpb |
A |
T |
13: 61,049,948 (GRCm39) |
D60E |
probably benign |
Het |
Trip11 |
T |
C |
12: 101,865,170 (GRCm39) |
I168V |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
Wscd2 |
A |
G |
5: 113,710,382 (GRCm39) |
D302G |
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 |
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 |
IGL02986:Esyt1
|
APN |
10 |
128,352,626 (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 |
2013-11-18 |