Incidental Mutation 'IGL02576:Esyt3'
ID |
299176 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Esyt3
|
Ensembl Gene |
ENSMUSG00000037681 |
Gene Name |
extended synaptotagmin-like protein 3 |
Synonyms |
D9Ertd280e, Fam62c |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02576
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
99192016-99240610 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 99197278 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 851
(R851G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038757
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042158]
[ENSMUST00000187520]
|
AlphaFold |
Q5DTI8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042158
AA Change: R851G
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000038757 Gene: ENSMUSG00000037681 AA Change: R851G
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,032,678 (GRCm39) |
I232M |
probably benign |
Het |
Ace |
G |
A |
11: 105,864,937 (GRCm39) |
V537M |
probably damaging |
Het |
Alg1 |
A |
G |
16: 5,062,393 (GRCm39) |
E425G |
possibly damaging |
Het |
Cacng3 |
G |
A |
7: 122,271,133 (GRCm39) |
S46N |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cfap65 |
A |
G |
1: 74,942,617 (GRCm39) |
S1646P |
probably damaging |
Het |
Cimap2 |
T |
C |
4: 106,448,825 (GRCm39) |
D411G |
possibly damaging |
Het |
Col20a1 |
C |
T |
2: 180,655,198 (GRCm39) |
Q1152* |
probably null |
Het |
D130043K22Rik |
A |
C |
13: 25,040,853 (GRCm39) |
T92P |
possibly damaging |
Het |
Drc3 |
T |
C |
11: 60,261,377 (GRCm39) |
M176T |
probably benign |
Het |
Fbxo43 |
A |
G |
15: 36,152,321 (GRCm39) |
V496A |
probably benign |
Het |
Fut4 |
T |
A |
9: 14,662,701 (GRCm39) |
M198L |
probably damaging |
Het |
Galt |
C |
T |
4: 41,755,953 (GRCm39) |
|
probably benign |
Het |
Glipr1l1 |
A |
G |
10: 111,896,224 (GRCm39) |
K4E |
possibly damaging |
Het |
Gm9945 |
A |
G |
11: 53,371,178 (GRCm39) |
|
probably benign |
Het |
Hspa12a |
A |
C |
19: 58,787,842 (GRCm39) |
I660R |
possibly damaging |
Het |
Htr3b |
T |
C |
9: 48,856,804 (GRCm39) |
I225V |
possibly damaging |
Het |
Igf2r |
T |
C |
17: 12,967,650 (GRCm39) |
D23G |
possibly damaging |
Het |
Igsf5 |
A |
G |
16: 96,187,781 (GRCm39) |
I158V |
probably benign |
Het |
Itgae |
A |
G |
11: 73,009,331 (GRCm39) |
Y505C |
possibly damaging |
Het |
Kif16b |
A |
G |
2: 142,704,465 (GRCm39) |
|
probably benign |
Het |
Kif26b |
T |
C |
1: 178,743,912 (GRCm39) |
V1336A |
probably benign |
Het |
Kmt2d |
A |
G |
15: 98,762,001 (GRCm39) |
S450P |
unknown |
Het |
Lhfpl2 |
G |
A |
13: 94,310,734 (GRCm39) |
M1I |
probably null |
Het |
Lig4 |
A |
G |
8: 10,021,116 (GRCm39) |
I888T |
probably damaging |
Het |
Msh4 |
G |
A |
3: 153,573,383 (GRCm39) |
T563M |
probably damaging |
Het |
Muc5ac |
C |
T |
7: 141,370,781 (GRCm39) |
A3238V |
probably benign |
Het |
Myo15b |
A |
G |
11: 115,780,879 (GRCm39) |
S1246G |
probably null |
Het |
Or5h25 |
T |
C |
16: 58,930,134 (GRCm39) |
I280V |
probably benign |
Het |
Pecam1 |
G |
A |
11: 106,562,600 (GRCm39) |
T599M |
probably damaging |
Het |
Phf3 |
G |
A |
1: 30,869,117 (GRCm39) |
P644S |
probably benign |
Het |
Pkd1l1 |
A |
C |
11: 8,794,560 (GRCm39) |
F2317C |
possibly damaging |
Het |
Prdm4 |
A |
G |
10: 85,736,801 (GRCm39) |
M613T |
possibly damaging |
Het |
Prim2 |
A |
T |
1: 33,523,798 (GRCm39) |
I371N |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,721,958 (GRCm39) |
D1316G |
probably damaging |
Het |
Rnf19b |
C |
T |
4: 128,967,315 (GRCm39) |
R285* |
probably null |
Het |
Secisbp2 |
A |
G |
13: 51,824,894 (GRCm39) |
N381D |
possibly damaging |
Het |
Slc28a2 |
T |
C |
2: 122,288,652 (GRCm39) |
I586T |
probably damaging |
Het |
Spef1 |
T |
C |
2: 131,016,562 (GRCm39) |
H11R |
possibly damaging |
Het |
Taar4 |
T |
C |
10: 23,836,909 (GRCm39) |
L173S |
probably damaging |
Het |
Tas2r123 |
T |
C |
6: 132,824,703 (GRCm39) |
F200S |
possibly damaging |
Het |
Tex16 |
T |
A |
X: 111,028,653 (GRCm39) |
L384Q |
probably benign |
Het |
Tox2 |
A |
G |
2: 163,118,100 (GRCm39) |
Q168R |
probably damaging |
Het |
Trim5 |
T |
A |
7: 103,927,624 (GRCm39) |
E172V |
probably damaging |
Het |
Txndc11 |
G |
A |
16: 10,892,881 (GRCm39) |
|
probably benign |
Het |
Vmn1r232 |
T |
A |
17: 21,134,175 (GRCm39) |
I142F |
probably benign |
Het |
Zdhhc25 |
A |
T |
15: 88,485,472 (GRCm39) |
H269L |
probably benign |
Het |
Znrf4 |
T |
C |
17: 56,819,199 (GRCm39) |
D36G |
probably damaging |
Het |
|
Other mutations in Esyt3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2015-04-16 |