Incidental Mutation 'IGL00899:Esyt1'
| ID |
28299 |
| 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 # |
IGL00899
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128346117-128361728 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128352932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 656
(L656P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026427]
|
| AlphaFold |
Q3U7R1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026427
AA Change: L656P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026427
Gene: ENSMUSG00000025366
AA Change: L656P
| 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: ENSMUST00000217948
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218092
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220045
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000220429
AA Change: L262P
|
| 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 |
|---|
| AU018091 |
A |
G |
7: 3,208,603 (GRCm39) |
I442T |
probably benign |
Het |
| Bpifb9a |
T |
C |
2: 154,106,647 (GRCm39) |
|
probably null |
Het |
| Ccp110 |
T |
A |
7: 118,321,907 (GRCm39) |
C521S |
probably benign |
Het |
| Chd6 |
A |
G |
2: 160,871,218 (GRCm39) |
|
probably benign |
Het |
| Cndp2 |
A |
T |
18: 84,695,501 (GRCm39) |
D133E |
probably damaging |
Het |
| Crygs |
T |
C |
16: 22,625,312 (GRCm39) |
E43G |
possibly damaging |
Het |
| Ednra |
C |
T |
8: 78,401,700 (GRCm39) |
G197R |
probably damaging |
Het |
| Ets1 |
C |
T |
9: 32,664,104 (GRCm39) |
P118L |
probably damaging |
Het |
| Fam98c |
A |
G |
7: 28,852,278 (GRCm39) |
|
probably benign |
Het |
| Foxi1 |
G |
A |
11: 34,155,772 (GRCm39) |
T286I |
probably benign |
Het |
| Gimap5 |
G |
A |
6: 48,730,107 (GRCm39) |
A226T |
possibly damaging |
Het |
| Heatr1 |
C |
T |
13: 12,450,057 (GRCm39) |
A2017V |
probably benign |
Het |
| Ikbkb |
T |
C |
8: 23,150,463 (GRCm39) |
S740G |
possibly damaging |
Het |
| Inppl1 |
A |
T |
7: 101,478,365 (GRCm39) |
I617N |
probably damaging |
Het |
| Itpkb |
T |
C |
1: 180,160,558 (GRCm39) |
L228P |
probably benign |
Het |
| Kcnc4 |
T |
A |
3: 107,365,779 (GRCm39) |
D143V |
possibly damaging |
Het |
| Krtdap |
T |
A |
7: 30,489,387 (GRCm39) |
|
probably null |
Het |
| Lilra6 |
T |
A |
7: 3,916,056 (GRCm39) |
T268S |
probably damaging |
Het |
| M6pr |
A |
G |
6: 122,292,354 (GRCm39) |
E183G |
possibly damaging |
Het |
| Muc5ac |
T |
A |
7: 141,366,440 (GRCm39) |
V2168D |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,550,266 (GRCm39) |
S2721P |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,760,222 (GRCm39) |
I215L |
probably benign |
Het |
| Pqbp1 |
T |
C |
X: 7,762,243 (GRCm39) |
N94S |
probably benign |
Het |
| Prl3d2 |
T |
C |
13: 27,306,332 (GRCm39) |
S20P |
probably damaging |
Het |
| Psmb2 |
T |
C |
4: 126,601,350 (GRCm39) |
I151T |
probably benign |
Het |
| Rapgef6 |
G |
T |
11: 54,510,844 (GRCm39) |
E107* |
probably null |
Het |
| Slc2a13 |
T |
C |
15: 91,381,602 (GRCm39) |
T296A |
probably benign |
Het |
| Tcl1b4 |
A |
G |
12: 105,170,916 (GRCm39) |
T55A |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,545,922 (GRCm39) |
|
probably null |
Het |
| Trim80 |
T |
G |
11: 115,338,491 (GRCm39) |
N440K |
probably benign |
Het |
| Ttc13 |
C |
T |
8: 125,415,586 (GRCm39) |
|
probably benign |
Het |
| Ttc38 |
T |
A |
15: 85,728,663 (GRCm39) |
I205N |
possibly damaging |
Het |
| Ufl1 |
T |
C |
4: 25,262,238 (GRCm39) |
D336G |
probably damaging |
Het |
| Vmn2r74 |
A |
T |
7: 85,606,338 (GRCm39) |
I336K |
probably benign |
Het |
| Zbtb26 |
G |
T |
2: 37,326,270 (GRCm39) |
Y255* |
probably null |
Het |
| Zfp462 |
T |
A |
4: 55,007,732 (GRCm39) |
V57E |
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 |
|
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 |
|
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 |
2013-04-17 |
Incidental Mutation