Incidental Mutation 'R1217:Esyt3'
| ID |
99755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esyt3
|
| Ensembl Gene |
ENSMUSG00000037681 |
| Gene Name |
extended synaptotagmin-like protein 3 |
| Synonyms |
D9Ertd280e, Fam62c |
| MMRRC Submission |
039286-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1217 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
99192016-99240610 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 99200097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 699
(G699D)
|
| 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: G699D
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000038757
Gene: ENSMUSG00000037681
AA Change: G699D
| 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: ENSMUST00000191694
|
| Meta Mutation Damage Score |
0.0803 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.6%
|
| Validation Efficiency |
100% (45/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adora2a |
A |
T |
10: 75,169,049 (GRCm39) |
Y171F |
probably damaging |
Het |
| Agpat4 |
C |
T |
17: 12,429,203 (GRCm39) |
R152W |
probably damaging |
Het |
| Aldh1a2 |
A |
G |
9: 71,188,964 (GRCm39) |
N293D |
possibly damaging |
Het |
| Ash2l |
T |
C |
8: 26,312,913 (GRCm39) |
N441S |
probably damaging |
Het |
| Asrgl1 |
A |
T |
19: 9,093,864 (GRCm39) |
|
probably null |
Het |
| Capn3 |
C |
A |
2: 120,316,902 (GRCm39) |
S277* |
probably null |
Het |
| Ccdc168 |
A |
T |
1: 44,096,339 (GRCm39) |
S1586R |
possibly damaging |
Het |
| Ccp110 |
T |
C |
7: 118,329,167 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,799,676 (GRCm39) |
V491A |
probably benign |
Het |
| Cep170b |
T |
C |
12: 112,707,339 (GRCm39) |
S362P |
probably damaging |
Het |
| Cfap57 |
A |
G |
4: 118,463,849 (GRCm39) |
S335P |
possibly damaging |
Het |
| Cmklr1 |
A |
T |
5: 113,752,107 (GRCm39) |
L298Q |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,466,730 (GRCm39) |
|
probably null |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Cyp2d26 |
A |
G |
15: 82,677,068 (GRCm39) |
|
probably benign |
Het |
| Cyth3 |
T |
C |
5: 143,688,575 (GRCm39) |
Y240H |
probably damaging |
Het |
| Dhx9 |
G |
A |
1: 153,334,109 (GRCm39) |
T1017I |
probably damaging |
Het |
| Edar |
T |
C |
10: 58,464,453 (GRCm39) |
Y62C |
probably damaging |
Het |
| Fgb |
T |
C |
3: 82,950,564 (GRCm39) |
T397A |
probably damaging |
Het |
| Foxc1 |
C |
A |
13: 31,992,668 (GRCm39) |
A493E |
unknown |
Het |
| Grid1 |
T |
C |
14: 34,542,186 (GRCm39) |
M1T |
probably null |
Het |
| Ipo4 |
T |
C |
14: 55,871,816 (GRCm39) |
K113R |
probably damaging |
Het |
| Kif21b |
A |
G |
1: 136,080,114 (GRCm39) |
E550G |
probably damaging |
Het |
| Krt1 |
T |
C |
15: 101,757,416 (GRCm39) |
K265E |
possibly damaging |
Het |
| Lmx1a |
G |
A |
1: 167,618,968 (GRCm39) |
R109H |
probably damaging |
Het |
| Mcm5 |
A |
G |
8: 75,852,919 (GRCm39) |
K677R |
probably benign |
Het |
| Metap1 |
A |
T |
3: 138,180,791 (GRCm39) |
L130* |
probably null |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,085 (GRCm39) |
L172P |
probably benign |
Het |
| Mylip |
G |
A |
13: 45,560,178 (GRCm39) |
E205K |
probably damaging |
Het |
| Myo3b |
A |
C |
2: 70,161,224 (GRCm39) |
E1128A |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Nlrp4d |
T |
C |
7: 10,098,194 (GRCm39) |
I823V |
probably benign |
Het |
| Odad1 |
C |
T |
7: 45,592,182 (GRCm39) |
|
probably benign |
Het |
| Rec114 |
A |
T |
9: 58,573,103 (GRCm39) |
|
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,865,351 (GRCm39) |
A666T |
probably benign |
Het |
| Siva1 |
C |
T |
12: 112,613,355 (GRCm39) |
Q68* |
probably null |
Het |
| Slc22a27 |
T |
A |
19: 7,904,033 (GRCm39) |
I35F |
probably benign |
Het |
| Slco1a5 |
T |
A |
6: 142,200,100 (GRCm39) |
N228I |
probably damaging |
Het |
| St8sia4 |
G |
A |
1: 95,581,464 (GRCm39) |
R93C |
probably damaging |
Het |
| Tprg1 |
T |
C |
16: 25,231,593 (GRCm39) |
S190P |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,658,287 (GRCm39) |
|
probably null |
Het |
| Vmn2r70 |
C |
T |
7: 85,208,269 (GRCm39) |
C736Y |
probably damaging |
Het |
| Zfp629 |
C |
T |
7: 127,211,916 (GRCm39) |
|
probably benign |
Het |
| Zswim4 |
A |
G |
8: 84,946,601 (GRCm39) |
V685A |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGAGACCCTTGAACGTGAGCAG -3'
(R):5'- GCATTGACAATATCAGCGCAGCC -3'
Sequencing Primer
(F):5'- AGGTCTGCACATTCCTATCTAC -3'
(R):5'- TATCAGCGCAGCCACCAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation