Incidental Mutation 'R8049:Esyt1'
ID |
618944 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Esyt1
|
Ensembl Gene |
ENSMUSG00000025366 |
Gene Name |
extended synaptotagmin-like protein 1 |
Synonyms |
Mbc2, Fam62a, vp115 |
MMRRC Submission |
067486-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R8049 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
128346117-128361728 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 128347955 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 942
(V942L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026427]
|
AlphaFold |
Q3U7R1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026427
AA Change: V942L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000026427 Gene: ENSMUSG00000025366 AA Change: V942L
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 |
probably benign
Transcript: ENSMUST00000220429
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310034C09Rik |
A |
T |
16: 88,555,992 (GRCm39) |
T69S |
probably benign |
Het |
5730455P16Rik |
A |
G |
11: 80,268,798 (GRCm39) |
S4P |
possibly damaging |
Het |
Abca13 |
T |
A |
11: 9,241,867 (GRCm39) |
N1243K |
probably damaging |
Het |
Adgrg6 |
A |
T |
10: 14,303,943 (GRCm39) |
S824T |
probably benign |
Het |
Armh4 |
G |
T |
14: 50,010,993 (GRCm39) |
A238E |
probably damaging |
Het |
C3ar1 |
T |
A |
6: 122,827,059 (GRCm39) |
Y386F |
probably damaging |
Het |
Cdc14a |
T |
C |
3: 116,087,577 (GRCm39) |
N527S |
probably benign |
Het |
Cfap69 |
A |
T |
5: 5,669,085 (GRCm39) |
|
probably benign |
Het |
Col7a1 |
C |
T |
9: 108,804,631 (GRCm39) |
P2279S |
unknown |
Het |
Crb2 |
G |
A |
2: 37,683,252 (GRCm39) |
G918D |
probably benign |
Het |
Dcn |
C |
A |
10: 97,349,479 (GRCm39) |
N250K |
probably damaging |
Het |
Dctn5 |
G |
A |
7: 121,732,466 (GRCm39) |
|
probably benign |
Het |
Ddx55 |
T |
C |
5: 124,694,821 (GRCm39) |
V83A |
probably damaging |
Het |
Dnaja2 |
T |
A |
8: 86,265,876 (GRCm39) |
H403L |
possibly damaging |
Het |
Dpy19l4 |
T |
C |
4: 11,303,982 (GRCm39) |
I143V |
probably benign |
Het |
Efna5 |
G |
T |
17: 62,957,977 (GRCm39) |
T93K |
probably benign |
Het |
Eml6 |
A |
G |
11: 29,843,201 (GRCm39) |
V171A |
possibly damaging |
Het |
Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
Fam78a |
C |
A |
2: 31,973,035 (GRCm39) |
|
probably benign |
Het |
Fat2 |
A |
G |
11: 55,202,892 (GRCm39) |
Y61H |
probably benign |
Het |
Fbxw14 |
A |
T |
9: 109,105,211 (GRCm39) |
M318K |
probably damaging |
Het |
Gm14295 |
A |
G |
2: 176,500,871 (GRCm39) |
I120M |
probably benign |
Het |
Gm14403 |
T |
A |
2: 177,200,311 (GRCm39) |
Y86N |
probably benign |
Het |
Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
Gpr55 |
T |
C |
1: 85,869,419 (GRCm39) |
D54G |
probably benign |
Het |
Gtf2b |
T |
G |
3: 142,483,975 (GRCm39) |
S50A |
probably damaging |
Het |
Ifit3 |
A |
T |
19: 34,565,480 (GRCm39) |
E342V |
possibly damaging |
Het |
Iqgap3 |
T |
A |
3: 88,011,609 (GRCm39) |
I798N |
probably damaging |
Het |
Kplce |
A |
T |
3: 92,776,202 (GRCm39) |
Y160* |
probably null |
Het |
Lpin1 |
T |
C |
12: 16,613,685 (GRCm39) |
D494G |
|
Het |
Lsm12 |
T |
C |
11: 102,056,235 (GRCm39) |
E149G |
possibly damaging |
Het |
Mtfr2 |
T |
C |
10: 20,228,603 (GRCm39) |
S50P |
possibly damaging |
Het |
Ndnf |
T |
C |
6: 65,680,414 (GRCm39) |
M231T |
probably benign |
Het |
Noc3l |
A |
T |
19: 38,800,873 (GRCm39) |
V203E |
probably benign |
Het |
Or1e27-ps1 |
G |
T |
11: 73,555,988 (GRCm39) |
K184N |
possibly damaging |
Het |
Or52h2 |
C |
A |
7: 103,839,017 (GRCm39) |
L132F |
probably damaging |
Het |
Or5c1 |
A |
T |
2: 37,222,346 (GRCm39) |
T196S |
probably damaging |
Het |
Or9r7 |
A |
T |
10: 129,962,469 (GRCm39) |
Y152* |
probably null |
Het |
Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
Pde6b |
C |
T |
5: 108,573,118 (GRCm39) |
P496L |
probably benign |
Het |
Plppr1 |
A |
T |
4: 49,300,942 (GRCm39) |
M92L |
probably benign |
Het |
Pphln1-ps1 |
C |
T |
16: 13,495,623 (GRCm39) |
R241C |
probably damaging |
Het |
Ptprk |
C |
G |
10: 28,259,565 (GRCm39) |
S335C |
possibly damaging |
Het |
Rars2 |
T |
A |
4: 34,650,217 (GRCm39) |
M334K |
probably benign |
Het |
Rasl10a |
A |
T |
11: 5,009,823 (GRCm39) |
I124F |
probably damaging |
Het |
Rgs12 |
T |
A |
5: 35,183,374 (GRCm39) |
V1007E |
possibly damaging |
Het |
Rnf122 |
T |
A |
8: 31,618,608 (GRCm39) |
C119S |
probably damaging |
Het |
Scn11a |
T |
A |
9: 119,584,149 (GRCm39) |
I1489F |
probably damaging |
Het |
Setd6 |
C |
A |
8: 96,443,316 (GRCm39) |
S186R |
probably benign |
Het |
Tex19.1 |
A |
G |
11: 121,038,148 (GRCm39) |
T169A |
probably benign |
Het |
Th |
G |
A |
7: 142,447,860 (GRCm39) |
P408S |
probably damaging |
Het |
Trappc13 |
T |
C |
13: 104,281,052 (GRCm39) |
M337V |
probably benign |
Het |
Treml2 |
A |
T |
17: 48,609,762 (GRCm39) |
K65* |
probably null |
Het |
Ubxn4 |
T |
C |
1: 128,183,933 (GRCm39) |
S98P |
probably damaging |
Het |
Wrnip1 |
A |
G |
13: 33,005,960 (GRCm39) |
S601G |
probably benign |
Het |
Zfp1006 |
A |
T |
8: 129,946,555 (GRCm39) |
L90H |
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 |
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 |
R8366: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'- CACACTGTCAGCTTCACCTG -3'
(R):5'- TTTGCACTCAGTGGTCAGG -3'
Sequencing Primer
(F):5'- TCAGCTTCACCTGGCCCAG -3'
(R):5'- CAGGAAGGCTTAGGCTCCAG -3'
|
Posted On |
2020-01-23 |