Incidental Mutation 'IGL02653:Esyt1'
| ID |
302234 |
| 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 # |
IGL02653
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128346117-128361728 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128346877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 1071
(I1071L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026427]
|
| AlphaFold |
Q3U7R1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026427
AA Change: I1071L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026427
Gene: ENSMUSG00000025366
AA Change: I1071L
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,765,191 (GRCm39) |
|
probably benign |
Het |
| Alox5 |
T |
A |
6: 116,392,438 (GRCm39) |
H361L |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,185,583 (GRCm39) |
N3S |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,078,973 (GRCm39) |
I182F |
possibly damaging |
Het |
| Cby2 |
T |
C |
14: 75,820,597 (GRCm39) |
D385G |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 76,957,760 (GRCm39) |
D496E |
probably benign |
Het |
| Cyp3a25 |
G |
T |
5: 145,939,920 (GRCm39) |
S29Y |
possibly damaging |
Het |
| Dglucy |
G |
A |
12: 100,837,690 (GRCm39) |
G611D |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,022,848 (GRCm39) |
K622E |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,209,777 (GRCm39) |
K1035E |
probably benign |
Het |
| Frem1 |
T |
G |
4: 82,877,571 (GRCm39) |
E1335D |
probably benign |
Het |
| Gm5900 |
A |
G |
7: 104,599,340 (GRCm39) |
|
noncoding transcript |
Het |
| Ikbke |
T |
A |
1: 131,199,572 (GRCm39) |
Q283L |
possibly damaging |
Het |
| Lepr |
A |
T |
4: 101,622,141 (GRCm39) |
I358F |
probably benign |
Het |
| Lnpk |
A |
G |
2: 74,378,392 (GRCm39) |
V123A |
probably damaging |
Het |
| Mis12 |
A |
G |
11: 70,916,357 (GRCm39) |
K130R |
probably damaging |
Het |
| Ncapg2 |
T |
A |
12: 116,389,526 (GRCm39) |
|
probably null |
Het |
| Npy6r |
T |
C |
18: 44,409,694 (GRCm39) |
*372Q |
probably null |
Het |
| Polr3d |
T |
C |
14: 70,677,557 (GRCm39) |
D273G |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 101,088,892 (GRCm39) |
V477A |
probably benign |
Het |
| Prpf19 |
T |
A |
19: 10,880,328 (GRCm39) |
|
probably benign |
Het |
| Ptgr3 |
T |
C |
18: 84,113,443 (GRCm39) |
V373A |
possibly damaging |
Het |
| Pwwp2a |
A |
G |
11: 43,596,862 (GRCm39) |
T676A |
possibly damaging |
Het |
| Ralgapb |
T |
A |
2: 158,285,229 (GRCm39) |
I242N |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,291,531 (GRCm39) |
S1738R |
probably damaging |
Het |
| Snapc1 |
C |
A |
12: 74,029,261 (GRCm39) |
P348Q |
probably benign |
Het |
| Tbc1d7 |
T |
C |
13: 43,318,874 (GRCm39) |
I88V |
probably benign |
Het |
| Tnks2 |
T |
C |
19: 36,849,851 (GRCm39) |
S220P |
probably damaging |
Het |
| Trim56 |
A |
T |
5: 137,141,760 (GRCm39) |
S585R |
probably damaging |
Het |
| Trpm2 |
T |
G |
10: 77,748,503 (GRCm39) |
E1389A |
probably benign |
Het |
| Tspear |
T |
A |
10: 77,542,799 (GRCm39) |
|
probably benign |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,500 (GRCm39) |
I221T |
probably damaging |
Het |
| Vmn1r204 |
A |
C |
13: 22,740,800 (GRCm39) |
I144L |
probably benign |
Het |
| Vmn2r20 |
A |
T |
6: 123,362,324 (GRCm39) |
I820N |
probably damaging |
Het |
| Vwa3b |
T |
A |
1: 37,214,646 (GRCm39) |
|
probably benign |
Het |
| Wnt1 |
G |
A |
15: 98,690,336 (GRCm39) |
G222R |
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 |
|
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 |
2015-04-16 |
Incidental Mutation