Incidental Mutation 'R8366:Esyt1'
| ID |
646182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esyt1
|
| Ensembl Gene |
ENSMUSG00000025366 |
| Gene Name |
extended synaptotagmin-like protein 1 |
| Synonyms |
Mbc2, Fam62a, vp115 |
| MMRRC Submission |
067737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R8366 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128346117-128361728 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 128352422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Histidine
at position 730
(N730H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026427]
|
| AlphaFold |
Q3U7R1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026427
AA Change: N730H
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026427
Gene: ENSMUSG00000025366
AA Change: N730H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
44 |
N/A |
INTRINSIC |
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
Pfam:SMP_LBD
|
125 |
303 |
4.3e-80 |
PFAM |
|
C2
|
320 |
422 |
1.27e-17 |
SMART |
|
C2
|
469 |
563 |
4.62e-11 |
SMART |
|
C2
|
635 |
737 |
4.05e-25 |
SMART |
|
C2
|
786 |
879 |
3.05e-11 |
SMART |
|
low complexity region
|
909 |
921 |
N/A |
INTRINSIC |
|
C2
|
975 |
1080 |
1.51e-15 |
SMART |
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
G |
A |
11: 72,067,521 (GRCm39) |
Q590* |
probably null |
Het |
| Adnp2 |
T |
C |
18: 80,173,725 (GRCm39) |
D228G |
probably damaging |
Het |
| Adrb2 |
T |
A |
18: 62,311,775 (GRCm39) |
Y350F |
probably benign |
Het |
| Agbl4 |
T |
C |
4: 111,423,861 (GRCm39) |
S296P |
probably damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Ampd1 |
A |
T |
3: 102,995,810 (GRCm39) |
D240V |
probably damaging |
Het |
| Armh3 |
T |
C |
19: 45,920,793 (GRCm39) |
Y468C |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,419,707 (GRCm39) |
S838G |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,160,799 (GRCm39) |
F2056L |
probably benign |
Het |
| Cyp4x1 |
A |
T |
4: 114,970,063 (GRCm39) |
S381T |
probably benign |
Het |
| Ddx20 |
A |
G |
3: 105,594,695 (GRCm39) |
S17P |
probably benign |
Het |
| Dlgap4 |
C |
A |
2: 156,542,694 (GRCm39) |
Y32* |
probably null |
Het |
| Dmbt1 |
T |
C |
7: 130,668,330 (GRCm39) |
F529L |
unknown |
Het |
| Ei24 |
A |
G |
9: 36,697,800 (GRCm39) |
S117P |
possibly damaging |
Het |
| Gcfc2 |
A |
G |
6: 81,900,782 (GRCm39) |
E32G |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,125,699 (GRCm39) |
I2952T |
|
Het |
| Mkrn3 |
A |
T |
7: 62,069,543 (GRCm39) |
S83T |
probably benign |
Het |
| Ncoa2 |
T |
A |
1: 13,250,830 (GRCm39) |
D284V |
probably damaging |
Het |
| Or10w1 |
A |
G |
19: 13,631,903 (GRCm39) |
S37G |
probably damaging |
Het |
| Osmr |
T |
A |
15: 6,850,435 (GRCm39) |
T724S |
possibly damaging |
Het |
| Pex1 |
A |
G |
5: 3,676,007 (GRCm39) |
E825G |
probably benign |
Het |
| Ranbp6 |
A |
G |
19: 29,789,299 (GRCm39) |
L351P |
probably damaging |
Het |
| Rbm20 |
C |
T |
19: 53,838,612 (GRCm39) |
T863I |
possibly damaging |
Het |
| Rcbtb2 |
T |
C |
14: 73,444,632 (GRCm39) |
S506P |
probably benign |
Het |
| Rdh12 |
T |
A |
12: 79,258,288 (GRCm39) |
I105N |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,267,195 (GRCm39) |
I299V |
possibly damaging |
Het |
| Rpap3 |
C |
T |
15: 97,579,548 (GRCm39) |
R488K |
probably benign |
Het |
| Rps6kb1 |
A |
C |
11: 86,402,655 (GRCm39) |
V346G |
probably damaging |
Het |
| Setd2 |
T |
C |
9: 110,377,816 (GRCm39) |
S544P |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,865,566 (GRCm39) |
V162E |
probably damaging |
Het |
| Slc16a10 |
A |
G |
10: 39,952,867 (GRCm39) |
V209A |
probably benign |
Het |
| Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
| Teddm2 |
G |
T |
1: 153,726,575 (GRCm39) |
H47N |
probably damaging |
Het |
| Tmem74 |
C |
T |
15: 43,730,315 (GRCm39) |
G243R |
probably damaging |
Het |
| Trmt10c |
C |
T |
16: 55,854,426 (GRCm39) |
R403Q |
probably benign |
Het |
| Vps11 |
A |
T |
9: 44,267,052 (GRCm39) |
Y394* |
probably null |
Het |
| Zscan10 |
G |
T |
17: 23,828,952 (GRCm39) |
R498L |
probably damaging |
Het |
|
| Other mutations in Esyt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00434:Esyt1
|
APN |
10 |
128,353,504 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00518:Esyt1
|
APN |
10 |
128,357,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00534:Esyt1
|
APN |
10 |
128,351,553 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00578:Esyt1
|
APN |
10 |
128,347,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00899:Esyt1
|
APN |
10 |
128,352,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01308:Esyt1
|
APN |
10 |
128,355,660 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01373:Esyt1
|
APN |
10 |
128,354,810 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01476:Esyt1
|
APN |
10 |
128,347,363 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01655:Esyt1
|
APN |
10 |
128,358,181 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02302:Esyt1
|
APN |
10 |
128,348,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02441:Esyt1
|
APN |
10 |
128,348,293 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02550:Esyt1
|
APN |
10 |
128,357,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02653:Esyt1
|
APN |
10 |
128,346,877 (GRCm39) |
missense |
probably benign |
|
|
IGL02948:Esyt1
|
APN |
10 |
128,355,040 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02986:Esyt1
|
APN |
10 |
128,352,626 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03033:Esyt1
|
APN |
10 |
128,352,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0039:Esyt1
|
UTSW |
10 |
128,356,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0285:Esyt1
|
UTSW |
10 |
128,348,087 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0453:Esyt1
|
UTSW |
10 |
128,348,078 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1123:Esyt1
|
UTSW |
10 |
128,352,427 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1496:Esyt1
|
UTSW |
10 |
128,348,297 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1569:Esyt1
|
UTSW |
10 |
128,354,863 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1691:Esyt1
|
UTSW |
10 |
128,361,403 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1813:Esyt1
|
UTSW |
10 |
128,355,487 (GRCm39) |
missense |
probably benign |
|
|
R1827:Esyt1
|
UTSW |
10 |
128,352,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2038:Esyt1
|
UTSW |
10 |
128,347,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2039:Esyt1
|
UTSW |
10 |
128,347,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2115:Esyt1
|
UTSW |
10 |
128,357,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2696:Esyt1
|
UTSW |
10 |
128,352,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3919:Esyt1
|
UTSW |
10 |
128,356,905 (GRCm39) |
unclassified |
probably benign |
|
|
R3980:Esyt1
|
UTSW |
10 |
128,347,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4223:Esyt1
|
UTSW |
10 |
128,356,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4225:Esyt1
|
UTSW |
10 |
128,356,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5249:Esyt1
|
UTSW |
10 |
128,352,443 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5534:Esyt1
|
UTSW |
10 |
128,355,329 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5704:Esyt1
|
UTSW |
10 |
128,347,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6252:Esyt1
|
UTSW |
10 |
128,347,771 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6431:Esyt1
|
UTSW |
10 |
128,352,543 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7013:Esyt1
|
UTSW |
10 |
128,361,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7102:Esyt1
|
UTSW |
10 |
128,352,105 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7152:Esyt1
|
UTSW |
10 |
128,351,629 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7570:Esyt1
|
UTSW |
10 |
128,354,801 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7700:Esyt1
|
UTSW |
10 |
128,351,723 (GRCm39) |
splice site |
probably benign |
|
|
R7732:Esyt1
|
UTSW |
10 |
128,357,694 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8009:Esyt1
|
UTSW |
10 |
128,347,354 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8049:Esyt1
|
UTSW |
10 |
128,347,955 (GRCm39) |
missense |
probably benign |
|
|
R8222:Esyt1
|
UTSW |
10 |
128,347,647 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8365:Esyt1
|
UTSW |
10 |
128,352,422 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8407:Esyt1
|
UTSW |
10 |
128,347,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Esyt1
|
UTSW |
10 |
128,356,566 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9209:Esyt1
|
UTSW |
10 |
128,361,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9305:Esyt1
|
UTSW |
10 |
128,355,388 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9702:Esyt1
|
UTSW |
10 |
128,356,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9703:Esyt1
|
UTSW |
10 |
128,354,796 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAACTCAGCAGCAGTCGGTC -3'
(R):5'- AAGGAGAGATTTCCCTTTTCTCC -3'
Sequencing Primer
(F):5'- AGTCGGTCTAGGGGTCAGAC -3'
(R):5'- CCTGGCCAAGAGCTTGAGATTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation