Incidental Mutation 'IGL02310:Esyt2'
| ID |
287774 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Esyt2
|
| Ensembl Gene |
ENSMUSG00000021171 |
| Gene Name |
extended synaptotagmin-like protein 2 |
| Synonyms |
2310058N22Rik, D12Ertd551e, 2410017M09Rik, Fam62b, 4921504I16Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02310
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
116244816-116354670 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 116329541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 700
(L700F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100986]
[ENSMUST00000220720]
[ENSMUST00000220816]
|
| AlphaFold |
Q3TZZ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100986
AA Change: L700F
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000098548
Gene: ENSMUSG00000021171
AA Change: L700F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
22 |
N/A |
INTRINSIC |
|
transmembrane domain
|
51 |
73 |
N/A |
INTRINSIC |
|
Pfam:SMP_LBD
|
115 |
294 |
3e-125 |
PFAM |
|
C2
|
310 |
412 |
1.39e-14 |
SMART |
|
C2
|
461 |
556 |
2.59e-14 |
SMART |
|
low complexity region
|
660 |
669 |
N/A |
INTRINSIC |
|
C2
|
726 |
831 |
5.51e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220720
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220816
AA Change: L700F
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223150
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223181
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice are viable and fertile without overt morphological defects except reduced FGF-stimulated mouse embryonic fibroblast migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano4 |
T |
A |
10: 88,859,740 (GRCm39) |
K382* |
probably null |
Het |
| Apoc2l |
A |
G |
7: 19,405,688 (GRCm39) |
*98Q |
probably null |
Het |
| Bcl9l |
A |
G |
9: 44,420,602 (GRCm39) |
Y1299C |
probably damaging |
Het |
| Best1 |
T |
A |
19: 9,966,516 (GRCm39) |
H357L |
probably benign |
Het |
| Cdc26 |
T |
C |
4: 62,313,266 (GRCm39) |
|
probably benign |
Het |
| Fkbp15 |
T |
C |
4: 62,258,553 (GRCm39) |
Y138C |
probably damaging |
Het |
| Gbp6 |
T |
C |
5: 105,438,841 (GRCm39) |
N16D |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,963,075 (GRCm39) |
D812G |
probably null |
Het |
| Hic2 |
G |
A |
16: 17,075,621 (GRCm39) |
R150Q |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
| Klhl36 |
T |
A |
8: 120,596,356 (GRCm39) |
|
probably null |
Het |
| Matcap2 |
A |
G |
9: 22,335,724 (GRCm39) |
Y114C |
probably benign |
Het |
| Mug2 |
C |
T |
6: 122,036,082 (GRCm39) |
|
probably benign |
Het |
| Or9s14 |
T |
C |
1: 92,535,787 (GRCm39) |
V76A |
possibly damaging |
Het |
| Pdcl2 |
A |
T |
5: 76,465,728 (GRCm39) |
I116N |
probably damaging |
Het |
| Pip4p1 |
T |
C |
14: 51,166,667 (GRCm39) |
T187A |
possibly damaging |
Het |
| Pkn2 |
A |
G |
3: 142,517,341 (GRCm39) |
I482T |
probably damaging |
Het |
| Prss53 |
T |
G |
7: 127,485,786 (GRCm39) |
D518A |
probably benign |
Het |
| Psme4 |
A |
G |
11: 30,787,484 (GRCm39) |
D1093G |
probably benign |
Het |
| Tmcc2 |
A |
T |
1: 132,286,645 (GRCm39) |
I602N |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,619,035 (GRCm39) |
V16115I |
possibly damaging |
Het |
| Zbtb21 |
G |
T |
16: 97,752,990 (GRCm39) |
T459K |
possibly damaging |
Het |
|
| Other mutations in Esyt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00591:Esyt2
|
APN |
12 |
116,327,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01636:Esyt2
|
APN |
12 |
116,329,550 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01912:Esyt2
|
APN |
12 |
116,303,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4802001:Esyt2
|
UTSW |
12 |
116,329,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0134:Esyt2
|
UTSW |
12 |
116,331,330 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0225:Esyt2
|
UTSW |
12 |
116,331,330 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0313:Esyt2
|
UTSW |
12 |
116,311,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0532:Esyt2
|
UTSW |
12 |
116,320,818 (GRCm39) |
splice site |
probably benign |
|
|
R2324:Esyt2
|
UTSW |
12 |
116,331,441 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4610:Esyt2
|
UTSW |
12 |
116,282,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4898:Esyt2
|
UTSW |
12 |
116,305,708 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4918:Esyt2
|
UTSW |
12 |
116,287,760 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5052:Esyt2
|
UTSW |
12 |
116,331,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5222:Esyt2
|
UTSW |
12 |
116,282,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5800:Esyt2
|
UTSW |
12 |
116,333,808 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6499:Esyt2
|
UTSW |
12 |
116,284,790 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6607:Esyt2
|
UTSW |
12 |
116,332,360 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6951:Esyt2
|
UTSW |
12 |
116,287,750 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7153:Esyt2
|
UTSW |
12 |
116,310,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7173:Esyt2
|
UTSW |
12 |
116,327,154 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7227:Esyt2
|
UTSW |
12 |
116,305,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7248:Esyt2
|
UTSW |
12 |
116,305,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7509:Esyt2
|
UTSW |
12 |
116,329,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7780:Esyt2
|
UTSW |
12 |
116,305,718 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8077:Esyt2
|
UTSW |
12 |
116,305,848 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8136:Esyt2
|
UTSW |
12 |
116,327,079 (GRCm39) |
missense |
probably benign |
|
|
R8264:Esyt2
|
UTSW |
12 |
116,329,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8350:Esyt2
|
UTSW |
12 |
116,327,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8450:Esyt2
|
UTSW |
12 |
116,327,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9330:Esyt2
|
UTSW |
12 |
116,305,765 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation