Incidental Mutation 'R5705:Esyt3'
| ID |
451928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esyt3
|
| Ensembl Gene |
ENSMUSG00000037681 |
| Gene Name |
extended synaptotagmin-like protein 3 |
| Synonyms |
D9Ertd280e, Fam62c |
| MMRRC Submission |
043330-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5705 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
99192016-99240610 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99200260 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 645
(S645P)
|
| 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: S645P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000038757
Gene: ENSMUSG00000037681
AA Change: S645P
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,851,276 (GRCm39) |
V2163A |
probably benign |
Het |
| Abcg3 |
G |
A |
5: 105,116,036 (GRCm39) |
A266V |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,342,587 (GRCm39) |
I519V |
probably benign |
Het |
| Arhgap4 |
G |
A |
X: 72,950,423 (GRCm39) |
R43W |
probably damaging |
Het |
| Aurkb |
T |
A |
11: 68,939,641 (GRCm39) |
L213I |
possibly damaging |
Het |
| Bod1l |
T |
A |
5: 41,974,345 (GRCm39) |
Q2323L |
probably benign |
Het |
| Calhm5 |
A |
T |
10: 33,971,989 (GRCm39) |
C149S |
probably damaging |
Het |
| Ccdc17 |
C |
T |
4: 116,454,066 (GRCm39) |
T28I |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,871,086 (GRCm39) |
E630G |
probably damaging |
Het |
| Cnih4 |
A |
G |
1: 180,981,300 (GRCm39) |
I24V |
probably benign |
Het |
| Ctse |
C |
A |
1: 131,592,112 (GRCm39) |
T146K |
possibly damaging |
Het |
| Ctsr |
A |
G |
13: 61,309,078 (GRCm39) |
F226L |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,638,640 (GRCm39) |
N49D |
probably benign |
Het |
| Defb23 |
C |
T |
2: 152,301,204 (GRCm39) |
A123T |
probably benign |
Het |
| Dtx2 |
C |
A |
5: 136,039,149 (GRCm39) |
D69E |
probably damaging |
Het |
| Eps8l1 |
T |
C |
7: 4,473,034 (GRCm39) |
V91A |
probably benign |
Het |
| Eps8l3 |
C |
A |
3: 107,798,580 (GRCm39) |
Q489K |
probably benign |
Het |
| Fam161a |
T |
A |
11: 22,978,869 (GRCm39) |
M472K |
unknown |
Het |
| Glp2r |
A |
G |
11: 67,600,565 (GRCm39) |
V428A |
probably benign |
Het |
| Gnl1 |
G |
A |
17: 36,292,492 (GRCm39) |
V191I |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,059,319 (GRCm39) |
I234M |
probably benign |
Het |
| Hlx |
T |
C |
1: 184,463,062 (GRCm39) |
T197A |
probably benign |
Het |
| Hs3st2 |
T |
C |
7: 120,992,305 (GRCm39) |
L85P |
probably damaging |
Het |
| Igsf9 |
T |
C |
1: 172,322,338 (GRCm39) |
V511A |
possibly damaging |
Het |
| Insyn2b |
A |
G |
11: 34,354,349 (GRCm39) |
Y473C |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 24,053,839 (GRCm39) |
C54S |
possibly damaging |
Het |
| Klhdc4 |
A |
G |
8: 122,531,732 (GRCm39) |
V181A |
probably benign |
Het |
| Ldb3 |
T |
C |
14: 34,298,986 (GRCm39) |
M213V |
probably null |
Het |
| Mertk |
C |
A |
2: 128,613,321 (GRCm39) |
Q446K |
probably benign |
Het |
| Ndufs1 |
A |
G |
1: 63,186,317 (GRCm39) |
V46A |
probably benign |
Het |
| Neurod4 |
A |
G |
10: 130,107,271 (GRCm39) |
M1T |
probably null |
Het |
| Nlrc5 |
T |
A |
8: 95,202,385 (GRCm39) |
C162S |
probably benign |
Het |
| Pald1 |
A |
G |
10: 61,159,076 (GRCm39) |
I785T |
possibly damaging |
Het |
| Pcmt1 |
T |
C |
10: 7,513,954 (GRCm39) |
I224M |
possibly damaging |
Het |
| Pisd |
C |
T |
5: 32,894,707 (GRCm39) |
R533H |
probably benign |
Het |
| Plcxd3 |
C |
A |
15: 4,546,676 (GRCm39) |
Q227K |
probably benign |
Het |
| Polr1b |
A |
T |
2: 128,947,271 (GRCm39) |
K199* |
probably null |
Het |
| Ppp1r10 |
T |
C |
17: 36,240,381 (GRCm39) |
V557A |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,291,193 (GRCm39) |
Y248H |
probably damaging |
Het |
| Rsrp1 |
T |
C |
4: 134,651,331 (GRCm39) |
S32P |
unknown |
Het |
| Setdb2 |
T |
G |
14: 59,660,814 (GRCm39) |
S110R |
possibly damaging |
Het |
| Srcin1 |
A |
G |
11: 97,439,777 (GRCm39) |
C152R |
probably benign |
Het |
| Syk |
A |
G |
13: 52,765,083 (GRCm39) |
N70S |
probably benign |
Het |
| Tlr4 |
T |
A |
4: 66,752,217 (GRCm39) |
D59E |
probably damaging |
Het |
| Tm9sf4 |
T |
A |
2: 153,024,378 (GRCm39) |
I67N |
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,006,784 (GRCm39) |
Y24F |
probably damaging |
Het |
| Tsga13 |
A |
G |
6: 30,876,951 (GRCm39) |
S189P |
probably damaging |
Het |
| Tspan33 |
A |
G |
6: 29,717,232 (GRCm39) |
D210G |
probably benign |
Het |
| Use1 |
G |
T |
8: 71,822,331 (GRCm39) |
R278L |
probably damaging |
Het |
| Wwc1 |
T |
C |
11: 35,767,423 (GRCm39) |
N403D |
probably damaging |
Het |
| Zfp263 |
C |
T |
16: 3,564,318 (GRCm39) |
P203S |
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 |
|
|
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'- AGTTGAGTGAGGACATGCTG -3'
(R):5'- ATCTGCCACCAGTTCCTACG -3'
Sequencing Primer
(F):5'- ACTTGATGGGCCCTGGAGAG -3'
(R):5'- ACCAGTTCCTACGTGTGGAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation