Incidental Mutation 'R3793:Esyt3'
ID |
272658 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Esyt3
|
Ensembl Gene |
ENSMUSG00000037681 |
Gene Name |
extended synaptotagmin-like protein 3 |
Synonyms |
D9Ertd280e, Fam62c |
MMRRC Submission |
040755-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3793 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
99192016-99240610 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 99197334 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 832
(F832Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038757
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042158]
[ENSMUST00000187520]
|
AlphaFold |
Q5DTI8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042158
AA Change: F832Y
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000038757 Gene: ENSMUSG00000037681 AA Change: F832Y
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: ENSMUST00000186626
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187520
|
SMART Domains |
Protein: ENSMUSP00000140567 Gene: ENSMUSG00000037681
Domain | Start | End | E-Value | Type |
C2
|
2 |
83 |
5.9e-12 |
SMART |
low complexity region
|
94 |
104 |
N/A |
INTRINSIC |
C2
|
121 |
198 |
2.2e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195185
|
Meta Mutation Damage Score |
0.0995 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.4%
|
Validation Efficiency |
98% (50/51) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
A |
G |
7: 75,259,889 (GRCm39) |
T35A |
probably benign |
Het |
Arhgap32 |
T |
A |
9: 32,166,669 (GRCm39) |
S435R |
probably damaging |
Het |
Asic1 |
A |
T |
15: 99,569,906 (GRCm39) |
K76* |
probably null |
Het |
B9d1 |
A |
G |
11: 61,398,448 (GRCm39) |
|
probably benign |
Het |
Casd1 |
T |
C |
6: 4,619,876 (GRCm39) |
V207A |
possibly damaging |
Het |
Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
Cnfn |
T |
C |
7: 25,067,805 (GRCm39) |
N45S |
probably benign |
Het |
Col14a1 |
G |
T |
15: 55,226,909 (GRCm39) |
D220Y |
unknown |
Het |
Csn1s1 |
T |
A |
5: 87,828,702 (GRCm39) |
Y274* |
probably null |
Het |
Cyp2c69 |
T |
C |
19: 39,869,600 (GRCm39) |
T140A |
probably benign |
Het |
Dlg2 |
A |
T |
7: 91,459,743 (GRCm39) |
|
probably benign |
Het |
Esp16 |
T |
C |
17: 39,848,739 (GRCm39) |
I11T |
possibly damaging |
Het |
Ift172 |
C |
T |
5: 31,414,925 (GRCm39) |
D1366N |
possibly damaging |
Het |
Itga4 |
A |
G |
2: 79,109,472 (GRCm39) |
T224A |
probably benign |
Het |
Itprid1 |
A |
T |
6: 55,952,588 (GRCm39) |
M844L |
possibly damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Krt71 |
C |
T |
15: 101,651,345 (GRCm39) |
S46N |
probably damaging |
Het |
Lhx1 |
A |
G |
11: 84,412,726 (GRCm39) |
S65P |
probably benign |
Het |
Lingo4 |
A |
G |
3: 94,309,685 (GRCm39) |
S208G |
probably benign |
Het |
Lrrc2 |
T |
A |
9: 110,795,585 (GRCm39) |
C123* |
probably null |
Het |
Nfrkb |
A |
T |
9: 31,321,228 (GRCm39) |
|
probably benign |
Het |
Nfx1 |
T |
A |
4: 41,004,357 (GRCm39) |
C709* |
probably null |
Het |
Nlrp14 |
A |
T |
7: 106,781,481 (GRCm39) |
Q226L |
probably benign |
Het |
Ocln |
T |
C |
13: 100,635,402 (GRCm39) |
R496G |
possibly damaging |
Het |
Or2b2b |
T |
C |
13: 21,859,153 (GRCm39) |
|
probably null |
Het |
Or7e173 |
T |
A |
9: 19,938,359 (GRCm39) |
I292F |
probably damaging |
Het |
Osgepl1 |
T |
C |
1: 53,359,406 (GRCm39) |
I305T |
probably damaging |
Het |
Ovgp1 |
A |
G |
3: 105,887,487 (GRCm39) |
N266S |
probably benign |
Het |
Per1 |
A |
G |
11: 69,000,127 (GRCm39) |
E1273G |
probably benign |
Het |
Plch1 |
A |
G |
3: 63,605,252 (GRCm39) |
Y1542H |
probably damaging |
Het |
Pold1 |
A |
G |
7: 44,190,994 (GRCm39) |
F252L |
probably damaging |
Het |
Ptk2b |
A |
T |
14: 66,407,700 (GRCm39) |
D607E |
probably damaging |
Het |
Sdf4 |
T |
A |
4: 156,086,916 (GRCm39) |
|
probably null |
Het |
Sirt4 |
T |
C |
5: 115,618,351 (GRCm39) |
D241G |
probably benign |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,622,033 (GRCm39) |
Y531C |
probably damaging |
Het |
Tmem200a |
A |
T |
10: 25,870,087 (GRCm39) |
S61T |
probably damaging |
Het |
Trp53bp1 |
T |
C |
2: 121,030,810 (GRCm39) |
I1784V |
probably damaging |
Het |
Uba2 |
A |
C |
7: 33,845,722 (GRCm39) |
V467G |
probably damaging |
Het |
Ubr3 |
T |
C |
2: 69,747,525 (GRCm39) |
S263P |
possibly damaging |
Het |
Ugt2b35 |
A |
G |
5: 87,149,465 (GRCm39) |
T239A |
probably benign |
Het |
Wac |
T |
C |
18: 7,920,190 (GRCm39) |
V348A |
possibly damaging |
Het |
Wdr3 |
A |
T |
3: 100,059,281 (GRCm39) |
M346K |
probably benign |
Het |
Zfp607a |
A |
T |
7: 27,578,331 (GRCm39) |
H467L |
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 |
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 |
R6543:Esyt3
|
UTSW |
9 |
99,220,825 (GRCm39) |
missense |
possibly damaging |
0.77 |
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'- GGAGTAGGTGCCACATACTTATGG -3'
(R):5'- GACTAAGACGCACTGAGAGC -3'
Sequencing Primer
(F):5'- GGTGCCACATACTTATGGAATATTG -3'
(R):5'- ACTGAGAGCCTGGGAGC -3'
|
Posted On |
2015-03-25 |