Incidental Mutation 'R6543:Esyt3'
ID |
520943 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Esyt3
|
Ensembl Gene |
ENSMUSG00000037681 |
Gene Name |
extended synaptotagmin-like protein 3 |
Synonyms |
D9Ertd280e, Fam62c |
MMRRC Submission |
044669-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6543 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
99192016-99240610 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99220825 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 126
(N126S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038757
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042158]
|
AlphaFold |
Q5DTI8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042158
AA Change: N126S
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000038757 Gene: ENSMUSG00000037681 AA Change: N126S
Domain | Start | End | E-Value | Type |
transmembrane domain
|
54 |
76 |
N/A |
INTRINSIC |
Pfam:SMP_LBD
|
118 |
295 |
3.7e-63 |
PFAM |
C2
|
311 |
411 |
9.23e-20 |
SMART |
low complexity region
|
422 |
432 |
N/A |
INTRINSIC |
C2
|
449 |
563 |
6.6e-7 |
SMART |
low complexity region
|
658 |
673 |
N/A |
INTRINSIC |
low complexity region
|
729 |
739 |
N/A |
INTRINSIC |
C2
|
775 |
880 |
4.91e-15 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187365
|
Meta Mutation Damage Score |
0.6511 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
100% (41/41) |
MGI Phenotype |
PHENOTYPE: Mice are viable and fertile without overt morphological defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap4e1 |
T |
C |
2: 126,908,525 (GRCm39) |
V1091A |
probably benign |
Het |
Arhgef11 |
A |
G |
3: 87,640,715 (GRCm39) |
N1320D |
probably benign |
Het |
Atl3 |
T |
A |
19: 7,487,463 (GRCm39) |
F126Y |
probably damaging |
Het |
Borcs5 |
C |
T |
6: 134,687,143 (GRCm39) |
T167M |
probably damaging |
Het |
Cplane2 |
T |
G |
4: 140,944,599 (GRCm39) |
V50G |
probably benign |
Het |
Creld2 |
A |
G |
15: 88,709,481 (GRCm39) |
T331A |
probably benign |
Het |
Cuzd1 |
A |
G |
7: 130,911,497 (GRCm39) |
V494A |
probably damaging |
Het |
Dclk1 |
C |
T |
3: 55,407,552 (GRCm39) |
P244S |
probably damaging |
Het |
Focad |
T |
C |
4: 88,197,493 (GRCm39) |
S629P |
unknown |
Het |
Grip1 |
T |
C |
10: 119,821,499 (GRCm39) |
L389P |
probably benign |
Het |
Igkv4-91 |
A |
T |
6: 68,745,582 (GRCm39) |
D105E |
probably damaging |
Het |
Il20ra |
G |
A |
10: 19,625,071 (GRCm39) |
A117T |
probably damaging |
Het |
Il6ra |
A |
G |
3: 89,784,170 (GRCm39) |
V367A |
probably damaging |
Het |
Itga8 |
C |
T |
2: 12,306,455 (GRCm39) |
V47M |
probably damaging |
Het |
Limk2 |
T |
C |
11: 3,300,682 (GRCm39) |
Y220C |
probably damaging |
Het |
Lims1 |
T |
A |
10: 58,248,273 (GRCm39) |
C243* |
probably null |
Het |
Man1a |
C |
A |
10: 53,811,077 (GRCm39) |
G435* |
probably null |
Het |
Msantd5f4 |
A |
G |
4: 73,557,215 (GRCm39) |
E16G |
probably damaging |
Het |
Mtor |
T |
A |
4: 148,630,053 (GRCm39) |
I2250N |
probably damaging |
Het |
N4bp1 |
G |
A |
8: 87,588,534 (GRCm39) |
Q135* |
probably null |
Het |
Nbeal2 |
A |
T |
9: 110,473,526 (GRCm39) |
D76E |
probably benign |
Het |
Nbn |
T |
C |
4: 15,986,605 (GRCm39) |
S669P |
probably benign |
Het |
Nfrkb |
C |
T |
9: 31,312,281 (GRCm39) |
Q456* |
probably null |
Het |
Or6c3b |
C |
A |
10: 129,527,859 (GRCm39) |
G17V |
probably benign |
Het |
Pcnx3 |
C |
T |
19: 5,715,275 (GRCm39) |
A1557T |
probably benign |
Het |
Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
Prokr2 |
T |
A |
2: 132,215,819 (GRCm39) |
Q53L |
probably benign |
Het |
Pxmp4 |
C |
A |
2: 154,429,979 (GRCm39) |
A137S |
possibly damaging |
Het |
Rasef |
C |
T |
4: 73,698,756 (GRCm39) |
|
probably benign |
Het |
Scpppq1 |
T |
C |
5: 104,222,741 (GRCm39) |
|
probably benign |
Het |
Scrt2 |
C |
T |
2: 151,935,063 (GRCm39) |
A72V |
probably benign |
Het |
Sipa1l2 |
T |
C |
8: 126,177,101 (GRCm39) |
E1171G |
possibly damaging |
Het |
Slc26a8 |
T |
C |
17: 28,857,375 (GRCm39) |
T923A |
possibly damaging |
Het |
Slco1a6 |
T |
C |
6: 142,078,872 (GRCm39) |
K141R |
probably benign |
Het |
Slfn5 |
T |
A |
11: 82,849,492 (GRCm39) |
|
probably null |
Het |
Sympk |
A |
T |
7: 18,770,755 (GRCm39) |
H282L |
probably damaging |
Het |
Tnr |
A |
G |
1: 159,751,677 (GRCm39) |
Y1324C |
probably damaging |
Het |
Topaz1 |
A |
G |
9: 122,577,600 (GRCm39) |
N170S |
possibly damaging |
Het |
Trav6-3 |
T |
C |
14: 53,666,219 (GRCm39) |
M1T |
probably null |
Het |
Trim66 |
A |
G |
7: 109,075,086 (GRCm39) |
S392P |
probably benign |
Het |
Ttn |
T |
C |
2: 76,599,155 (GRCm39) |
T10958A |
probably damaging |
Het |
Ubr7 |
A |
G |
12: 102,734,494 (GRCm39) |
K256R |
probably benign |
Het |
|
Other mutations in Esyt3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02576:Esyt3
|
APN |
9 |
99,197,278 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02596:Esyt3
|
APN |
9 |
99,210,068 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02716:Esyt3
|
APN |
9 |
99,199,277 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02836:Esyt3
|
APN |
9 |
99,202,960 (GRCm39) |
splice site |
probably benign |
|
IGL03372:Esyt3
|
APN |
9 |
99,218,109 (GRCm39) |
splice site |
probably benign |
|
R0008:Esyt3
|
UTSW |
9 |
99,220,860 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1217:Esyt3
|
UTSW |
9 |
99,200,097 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1395:Esyt3
|
UTSW |
9 |
99,198,835 (GRCm39) |
unclassified |
probably benign |
|
R1478:Esyt3
|
UTSW |
9 |
99,200,119 (GRCm39) |
missense |
probably benign |
0.03 |
R1710:Esyt3
|
UTSW |
9 |
99,218,244 (GRCm39) |
missense |
probably benign |
|
R1792:Esyt3
|
UTSW |
9 |
99,240,169 (GRCm39) |
nonsense |
probably null |
|
R1913:Esyt3
|
UTSW |
9 |
99,202,364 (GRCm39) |
missense |
probably benign |
0.00 |
R3792:Esyt3
|
UTSW |
9 |
99,197,334 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3793:Esyt3
|
UTSW |
9 |
99,197,334 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3937:Esyt3
|
UTSW |
9 |
99,218,245 (GRCm39) |
missense |
probably benign |
|
R3964:Esyt3
|
UTSW |
9 |
99,202,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R3965:Esyt3
|
UTSW |
9 |
99,202,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R4061:Esyt3
|
UTSW |
9 |
99,202,891 (GRCm39) |
missense |
probably damaging |
1.00 |
R4088:Esyt3
|
UTSW |
9 |
99,206,290 (GRCm39) |
missense |
probably benign |
|
R4436:Esyt3
|
UTSW |
9 |
99,240,078 (GRCm39) |
intron |
probably benign |
|
R5274:Esyt3
|
UTSW |
9 |
99,200,350 (GRCm39) |
missense |
probably benign |
|
R5590:Esyt3
|
UTSW |
9 |
99,240,466 (GRCm39) |
utr 5 prime |
probably benign |
|
R5705:Esyt3
|
UTSW |
9 |
99,200,260 (GRCm39) |
missense |
probably benign |
0.00 |
R6738:Esyt3
|
UTSW |
9 |
99,202,346 (GRCm39) |
missense |
probably damaging |
0.98 |
R7000:Esyt3
|
UTSW |
9 |
99,204,206 (GRCm39) |
missense |
probably damaging |
0.99 |
R7019:Esyt3
|
UTSW |
9 |
99,197,338 (GRCm39) |
missense |
probably benign |
0.11 |
R7104:Esyt3
|
UTSW |
9 |
99,220,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R7130:Esyt3
|
UTSW |
9 |
99,200,223 (GRCm39) |
missense |
probably benign |
|
R7141:Esyt3
|
UTSW |
9 |
99,203,493 (GRCm39) |
missense |
probably benign |
0.12 |
R7145:Esyt3
|
UTSW |
9 |
99,201,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R7447:Esyt3
|
UTSW |
9 |
99,203,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R7459:Esyt3
|
UTSW |
9 |
99,240,117 (GRCm39) |
missense |
probably benign |
0.00 |
R7767:Esyt3
|
UTSW |
9 |
99,207,024 (GRCm39) |
missense |
probably benign |
0.00 |
R8397:Esyt3
|
UTSW |
9 |
99,209,966 (GRCm39) |
missense |
probably benign |
0.01 |
R8560:Esyt3
|
UTSW |
9 |
99,202,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R8882:Esyt3
|
UTSW |
9 |
99,202,909 (GRCm39) |
missense |
probably damaging |
0.99 |
R9320:Esyt3
|
UTSW |
9 |
99,194,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R9537:Esyt3
|
UTSW |
9 |
99,199,292 (GRCm39) |
missense |
probably damaging |
0.98 |
R9786:Esyt3
|
UTSW |
9 |
99,194,038 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATCCCTTACAGGAGAAGTACTG -3'
(R):5'- ATACTGATGGCACCCGTGTG -3'
Sequencing Primer
(F):5'- CCCTTACAGGAGAAGTACTGTCTGAG -3'
(R):5'- CGTGTGACCTCTGCAGAG -3'
|
Posted On |
2018-06-06 |