Incidental Mutation 'IGL00434:Esyt1'
| ID |
4640 |
| 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: 0.147)
|
| Stock # |
IGL00434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128346117-128361728 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 128353504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 578
(Y578H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026427]
|
| AlphaFold |
Q3U7R1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026427
AA Change: Y578H
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026427
Gene: ENSMUSG00000025366
AA Change: Y578H
| 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: ENSMUST00000187855
|
| 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: Y184H
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
C |
15: 96,269,181 (GRCm39) |
V1098A |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,041,448 (GRCm39) |
F2609L |
probably damaging |
Het |
| Ccdc126 |
C |
T |
6: 49,311,239 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
C |
2: 132,135,271 (GRCm39) |
L54P |
probably damaging |
Het |
| Cdsn |
A |
T |
17: 35,865,740 (GRCm39) |
S90C |
unknown |
Het |
| Clcn6 |
G |
T |
4: 148,098,195 (GRCm39) |
D581E |
probably damaging |
Het |
| Clec4f |
T |
A |
6: 83,630,198 (GRCm39) |
H120L |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,560,614 (GRCm39) |
T1838A |
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,878,524 (GRCm39) |
D211G |
possibly damaging |
Het |
| Cpne8 |
T |
C |
15: 90,381,261 (GRCm39) |
|
probably benign |
Het |
| Dgkk |
T |
A |
X: 6,772,697 (GRCm39) |
M462K |
probably benign |
Het |
| Dhx29 |
T |
A |
13: 113,091,759 (GRCm39) |
H834Q |
probably benign |
Het |
| Fnip2 |
C |
A |
3: 79,419,796 (GRCm39) |
|
probably benign |
Het |
| Fut1 |
T |
G |
7: 45,268,855 (GRCm39) |
C270G |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,884,707 (GRCm39) |
V170D |
probably damaging |
Het |
| Gys1 |
T |
A |
7: 45,094,256 (GRCm39) |
M364K |
possibly damaging |
Het |
| Ighv1-85 |
A |
C |
12: 115,963,654 (GRCm39) |
C115W |
probably damaging |
Het |
| Igkv4-74 |
T |
G |
6: 69,162,044 (GRCm39) |
T42P |
probably damaging |
Het |
| Jmjd4 |
A |
G |
11: 59,341,321 (GRCm39) |
Y84C |
probably damaging |
Het |
| Kif11 |
A |
C |
19: 37,399,857 (GRCm39) |
E781D |
possibly damaging |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Klf1 |
C |
T |
8: 85,628,628 (GRCm39) |
P9S |
possibly damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,502,191 (GRCm39) |
|
probably benign |
Het |
| Ltbp4 |
C |
A |
7: 27,028,230 (GRCm39) |
R309L |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,293,014 (GRCm39) |
E131G |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mgme1 |
T |
A |
2: 144,121,056 (GRCm39) |
|
probably benign |
Het |
| Nkiras2 |
G |
A |
11: 100,515,808 (GRCm39) |
G45D |
probably damaging |
Het |
| Orc2 |
A |
T |
1: 58,532,875 (GRCm39) |
D16E |
possibly damaging |
Het |
| Pcyox1l |
T |
C |
18: 61,830,613 (GRCm39) |
T420A |
probably benign |
Het |
| Pira13 |
C |
A |
7: 3,826,088 (GRCm39) |
G302C |
probably damaging |
Het |
| Pm20d1 |
A |
G |
1: 131,741,738 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,503 (GRCm39) |
D89G |
probably damaging |
Het |
| Ppp2ca |
G |
A |
11: 52,012,776 (GRCm39) |
R302H |
probably benign |
Het |
| Riok3 |
T |
C |
18: 12,281,904 (GRCm39) |
V291A |
probably damaging |
Het |
| Rragd |
A |
G |
4: 33,007,219 (GRCm39) |
|
probably benign |
Het |
| Scai |
C |
A |
2: 38,998,406 (GRCm39) |
L174F |
probably damaging |
Het |
| Slc25a44 |
T |
C |
3: 88,323,369 (GRCm39) |
I227V |
probably benign |
Het |
| Slc35f1 |
T |
C |
10: 52,938,548 (GRCm39) |
L160P |
probably damaging |
Het |
| Slc38a1 |
A |
G |
15: 96,483,504 (GRCm39) |
Y275H |
possibly damaging |
Het |
| Slco6b1 |
A |
G |
1: 96,916,375 (GRCm39) |
|
noncoding transcript |
Het |
| Spag8 |
G |
T |
4: 43,652,890 (GRCm39) |
C190* |
probably null |
Het |
| Tbr1 |
T |
C |
2: 61,635,625 (GRCm39) |
F192L |
probably benign |
Het |
| Tti1 |
C |
T |
2: 157,850,886 (GRCm39) |
E118K |
probably damaging |
Het |
| Tti1 |
T |
A |
2: 157,850,885 (GRCm39) |
E118V |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,852,821 (GRCm39) |
P713Q |
probably damaging |
Het |
| Vcf2 |
A |
T |
X: 149,181,395 (GRCm39) |
V132E |
possibly damaging |
Het |
| Wt1 |
G |
T |
2: 104,974,486 (GRCm39) |
|
probably null |
Het |
| Xylt1 |
T |
A |
7: 117,249,912 (GRCm39) |
I694N |
probably damaging |
Het |
| Zfp516 |
T |
A |
18: 82,975,233 (GRCm39) |
M477K |
probably benign |
Het |
|
| Other mutations in Esyt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation