Incidental Mutation 'R3980:Esyt1'
| ID |
311269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esyt1
|
| Ensembl Gene |
ENSMUSG00000025366 |
| Gene Name |
extended synaptotagmin-like protein 1 |
| Synonyms |
Mbc2, Fam62a, vp115 |
| MMRRC Submission |
040843-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R3980 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
128346117-128361728 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 128347393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 1044
(D1044V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026427]
|
| AlphaFold |
Q3U7R1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026427
AA Change: D1044V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000026427
Gene: ENSMUSG00000025366
AA Change: D1044V
| 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 |
noncoding transcript
Transcript: ENSMUST00000184514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217948
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218092
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220045
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220429
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
G |
A |
15: 74,454,792 (GRCm39) |
G268R |
probably damaging |
Het |
| Amacr |
T |
A |
15: 10,989,015 (GRCm39) |
Y240* |
probably null |
Het |
| Ankhd1 |
A |
T |
18: 36,780,666 (GRCm39) |
H1906L |
probably damaging |
Het |
| Arhgef25 |
C |
A |
10: 127,023,089 (GRCm39) |
C106F |
probably damaging |
Het |
| Bean1 |
A |
T |
8: 104,937,730 (GRCm39) |
Q103L |
possibly damaging |
Het |
| Ccr9 |
A |
T |
9: 123,608,441 (GRCm39) |
N41I |
probably benign |
Het |
| Ceacam16 |
A |
G |
7: 19,592,558 (GRCm39) |
F117L |
probably benign |
Het |
| Col4a1 |
T |
C |
8: 11,289,155 (GRCm39) |
|
probably benign |
Het |
| Csk |
A |
G |
9: 57,538,063 (GRCm39) |
Y48H |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,956,056 (GRCm39) |
K3384* |
probably null |
Het |
| Ctnnd2 |
T |
A |
15: 30,669,589 (GRCm39) |
H399Q |
probably benign |
Het |
| Cutal |
T |
C |
2: 34,772,325 (GRCm39) |
Y30H |
possibly damaging |
Het |
| Cybb |
T |
C |
X: 9,310,827 (GRCm39) |
Y425C |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,464,644 (GRCm39) |
|
probably null |
Het |
| Defb30 |
C |
A |
14: 63,273,421 (GRCm39) |
C64F |
probably damaging |
Het |
| Eif2a |
T |
C |
3: 58,446,960 (GRCm39) |
I45T |
probably benign |
Het |
| Gabpb2 |
A |
T |
3: 95,096,081 (GRCm39) |
V382E |
probably damaging |
Het |
| Glb1 |
T |
A |
9: 114,246,132 (GRCm39) |
I61K |
probably damaging |
Het |
| Insyn2b |
G |
A |
11: 34,352,678 (GRCm39) |
C240Y |
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,783,226 (GRCm39) |
V263A |
possibly damaging |
Het |
| Kdm5b |
A |
G |
1: 134,547,408 (GRCm39) |
D1019G |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,196,109 (GRCm39) |
L545M |
probably damaging |
Het |
| Klhl2 |
C |
A |
8: 65,196,115 (GRCm39) |
G543C |
probably damaging |
Het |
| Krt31 |
G |
T |
11: 99,939,030 (GRCm39) |
Q264K |
probably damaging |
Het |
| Lmnb1 |
A |
G |
18: 56,864,091 (GRCm39) |
D232G |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,501,855 (GRCm39) |
F859L |
probably damaging |
Het |
| Map7 |
C |
A |
10: 20,143,099 (GRCm39) |
T416K |
unknown |
Het |
| Med18 |
T |
A |
4: 132,190,251 (GRCm39) |
I45F |
probably benign |
Het |
| Mn1 |
A |
T |
5: 111,569,636 (GRCm39) |
H1202L |
possibly damaging |
Het |
| Mpp7 |
T |
C |
18: 7,444,062 (GRCm39) |
D120G |
probably benign |
Het |
| Nlrp1b |
A |
T |
11: 71,072,437 (GRCm39) |
F469I |
possibly damaging |
Het |
| Nos3 |
T |
A |
5: 24,582,929 (GRCm39) |
D685E |
probably damaging |
Het |
| Nrap |
G |
A |
19: 56,369,984 (GRCm39) |
A206V |
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,856,542 (GRCm39) |
|
probably null |
Het |
| Oasl1 |
C |
T |
5: 115,070,957 (GRCm39) |
T274I |
probably damaging |
Het |
| Or10ak12 |
T |
A |
4: 118,666,500 (GRCm39) |
Y187F |
probably benign |
Het |
| Or51a25 |
T |
C |
7: 102,372,959 (GRCm39) |
N246S |
probably damaging |
Het |
| Parp3 |
T |
C |
9: 106,351,267 (GRCm39) |
D278G |
probably damaging |
Het |
| Phc3 |
T |
A |
3: 30,991,080 (GRCm39) |
Q346L |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,019,231 (GRCm39) |
L1029P |
probably damaging |
Het |
| Plcb3 |
A |
G |
19: 6,943,803 (GRCm39) |
I66T |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,069,255 (GRCm39) |
S1019G |
probably benign |
Het |
| Plekhg6 |
C |
A |
6: 125,350,146 (GRCm39) |
C264F |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pou4f2 |
G |
T |
8: 79,162,067 (GRCm39) |
H179N |
possibly damaging |
Het |
| Prpf39 |
T |
C |
12: 65,108,231 (GRCm39) |
|
probably benign |
Het |
| Rapgef1 |
G |
A |
2: 29,609,662 (GRCm39) |
V700I |
probably benign |
Het |
| Rdh14 |
A |
G |
12: 10,444,703 (GRCm39) |
I185V |
probably benign |
Het |
| Rnf111 |
A |
T |
9: 70,349,607 (GRCm39) |
H785Q |
probably damaging |
Het |
| Rttn |
C |
T |
18: 89,035,399 (GRCm39) |
R758W |
probably benign |
Het |
| Sik3 |
G |
A |
9: 46,113,361 (GRCm39) |
V601M |
probably damaging |
Het |
| Slc22a14 |
T |
C |
9: 119,007,552 (GRCm39) |
T286A |
probably benign |
Het |
| Slc36a3 |
G |
A |
11: 55,026,209 (GRCm39) |
T203I |
probably benign |
Het |
| Spata31 |
A |
T |
13: 65,070,468 (GRCm39) |
Q872L |
probably benign |
Het |
| Spata31d1c |
A |
G |
13: 65,182,974 (GRCm39) |
D172G |
possibly damaging |
Het |
| Sphkap |
A |
T |
1: 83,245,215 (GRCm39) |
|
probably null |
Het |
| Stat6 |
T |
C |
10: 127,491,248 (GRCm39) |
V463A |
probably damaging |
Het |
| Stx7 |
T |
C |
10: 24,060,947 (GRCm39) |
S225P |
probably damaging |
Het |
| Sult2a7 |
A |
T |
7: 14,207,334 (GRCm39) |
|
probably benign |
Het |
| Tada2a |
A |
T |
11: 83,993,946 (GRCm39) |
F179L |
probably benign |
Het |
| Tas2r103 |
A |
G |
6: 133,013,280 (GRCm39) |
L262P |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,236,187 (GRCm39) |
I382V |
possibly damaging |
Het |
| Tshr |
C |
A |
12: 91,504,517 (GRCm39) |
A485D |
probably damaging |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,698 (GRCm39) |
Y26F |
probably damaging |
Het |
| Vmn1r5 |
A |
G |
6: 56,962,636 (GRCm39) |
T104A |
probably damaging |
Het |
| Wbp1l |
T |
A |
19: 46,642,396 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- TCATTTCAAACCACTGTGGGAGG -3'
(R):5'- ACCCCTATGTGTCAGTGTTG -3'
Sequencing Primer
(F):5'- TCAAACCACTGTGGGAGGTTACG -3'
(R):5'- TGTTGCTGCTCCCAGACAAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation