Incidental Mutation 'IGL02948:Esyt1'
| ID |
364816 |
| 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 # |
IGL02948
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
128346117-128361728 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 128355040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 496
(S496T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026427]
|
| AlphaFold |
Q3U7R1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026427
AA Change: S496T
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026427
Gene: ENSMUSG00000025366
AA Change: S496T
| 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: S102T
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,094,318 (GRCm39) |
|
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,527,363 (GRCm39) |
|
probably benign |
Het |
| Arpp21 |
T |
C |
9: 112,005,268 (GRCm39) |
Y193C |
probably damaging |
Het |
| Atm |
G |
A |
9: 53,364,740 (GRCm39) |
|
probably benign |
Het |
| Ceacam13 |
C |
T |
7: 17,744,988 (GRCm39) |
|
probably benign |
Het |
| Cenpi |
T |
A |
X: 133,250,017 (GRCm39) |
C599S |
possibly damaging |
Het |
| Clec7a |
A |
C |
6: 129,442,441 (GRCm39) |
D195E |
possibly damaging |
Het |
| Cnksr1 |
T |
C |
4: 133,962,417 (GRCm39) |
|
probably null |
Het |
| Cntn1 |
A |
G |
15: 92,143,891 (GRCm39) |
T285A |
probably benign |
Het |
| Dusp4 |
G |
T |
8: 35,285,726 (GRCm39) |
G329V |
probably damaging |
Het |
| Emb |
C |
A |
13: 117,409,602 (GRCm39) |
|
probably benign |
Het |
| Evpl |
T |
C |
11: 116,112,648 (GRCm39) |
T1681A |
probably damaging |
Het |
| Fam131b |
A |
C |
6: 42,297,926 (GRCm39) |
|
probably benign |
Het |
| Fam162b |
T |
C |
10: 51,463,392 (GRCm39) |
M92V |
probably damaging |
Het |
| Fbxw2 |
T |
C |
2: 34,695,723 (GRCm39) |
*455W |
probably null |
Het |
| Gm12886 |
A |
G |
4: 121,280,234 (GRCm39) |
L14P |
unknown |
Het |
| Gpc4 |
A |
T |
X: 51,163,178 (GRCm39) |
V235E |
probably damaging |
Het |
| Gss |
A |
G |
2: 155,419,541 (GRCm39) |
L170P |
probably damaging |
Het |
| Hbs1l |
C |
T |
10: 21,217,610 (GRCm39) |
|
probably benign |
Het |
| Hhatl |
T |
C |
9: 121,618,857 (GRCm39) |
M92V |
probably benign |
Het |
| Hhla1 |
A |
T |
15: 65,814,542 (GRCm39) |
L194H |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,757 (GRCm39) |
R452S |
probably benign |
Het |
| Homer2 |
C |
A |
7: 81,299,393 (GRCm39) |
W24L |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,050,050 (GRCm39) |
L492H |
probably damaging |
Het |
| Lrba |
C |
A |
3: 86,217,691 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
G |
T |
2: 69,318,181 (GRCm39) |
P2090Q |
probably damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Madd |
T |
A |
2: 90,973,172 (GRCm39) |
M1497L |
probably benign |
Het |
| Naprt |
C |
T |
15: 75,764,206 (GRCm39) |
R336Q |
probably damaging |
Het |
| Nars1 |
A |
G |
18: 64,638,266 (GRCm39) |
C266R |
possibly damaging |
Het |
| Or10v1 |
T |
A |
19: 11,874,145 (GRCm39) |
Y253* |
probably null |
Het |
| Or5k8 |
T |
A |
16: 58,644,451 (GRCm39) |
Q207L |
probably benign |
Het |
| Pard3 |
A |
T |
8: 128,032,975 (GRCm39) |
T190S |
probably benign |
Het |
| Pstpip2 |
A |
G |
18: 77,942,507 (GRCm39) |
N86S |
probably benign |
Het |
| Ptgfrn |
T |
C |
3: 100,980,135 (GRCm39) |
T402A |
probably benign |
Het |
| Rnf130 |
T |
C |
11: 49,943,598 (GRCm39) |
|
probably benign |
Het |
| Ropn1l |
T |
C |
15: 31,451,325 (GRCm39) |
D53G |
possibly damaging |
Het |
| Rps6ka2 |
G |
A |
17: 7,521,849 (GRCm39) |
|
probably null |
Het |
| Rtn2 |
T |
C |
7: 19,027,036 (GRCm39) |
S17P |
probably damaging |
Het |
| Shank2 |
T |
C |
7: 143,963,373 (GRCm39) |
V327A |
probably benign |
Het |
| Slc22a16 |
T |
G |
10: 40,449,958 (GRCm39) |
Y131* |
probably null |
Het |
| Slc28a2 |
T |
A |
2: 122,288,458 (GRCm39) |
M583K |
possibly damaging |
Het |
| Slco1a6 |
G |
T |
6: 142,078,961 (GRCm39) |
|
probably null |
Het |
| Slfn8 |
T |
A |
11: 82,894,078 (GRCm39) |
I854F |
probably damaging |
Het |
| Strip1 |
T |
C |
3: 107,520,582 (GRCm39) |
R823G |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tcl1b5 |
C |
T |
12: 105,145,273 (GRCm39) |
T79M |
probably benign |
Het |
| Tmem104 |
G |
T |
11: 115,088,122 (GRCm39) |
A36S |
probably damaging |
Het |
| Trim55 |
T |
A |
3: 19,725,116 (GRCm39) |
L211Q |
probably damaging |
Het |
| Trim80 |
T |
C |
11: 115,332,419 (GRCm39) |
W204R |
possibly damaging |
Het |
| Ttbk1 |
G |
A |
17: 46,757,256 (GRCm39) |
T1126I |
probably benign |
Het |
| Ubqln2 |
C |
T |
X: 152,282,692 (GRCm39) |
Q415* |
probably null |
Het |
| Unc13a |
C |
T |
8: 72,103,193 (GRCm39) |
R931H |
possibly damaging |
Het |
| Utp4 |
T |
A |
8: 107,621,273 (GRCm39) |
S17T |
probably benign |
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 |
|
IGL02653:Esyt1
|
APN |
10 |
128,346,877 (GRCm39) |
missense |
probably benign |
|
|
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 |
2015-12-18 |
Incidental Mutation