Incidental Mutation 'IGL03226:Cplx3'
| ID |
414832 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cplx3
|
| Ensembl Gene |
ENSMUSG00000039714 |
| Gene Name |
complexin 3 |
| Synonyms |
CpxIII, Lman1l |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03226
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
57507275-57513564 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57517290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 365
(Y365N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044937]
[ENSMUST00000045068]
[ENSMUST00000093832]
[ENSMUST00000215487]
[ENSMUST00000217015]
|
| AlphaFold |
Q8R1B5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044937
|
| SMART Domains |
Protein: ENSMUSP00000041631
Gene: ENSMUSG00000056271
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Lectin_leg-like
|
32 |
256 |
1.2e-53 |
PFAM |
|
low complexity region
|
272 |
287 |
N/A |
INTRINSIC |
|
coiled coil region
|
316 |
337 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045068
|
| SMART Domains |
Protein: ENSMUSP00000046748
Gene: ENSMUSG00000039714
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synaphin
|
1 |
139 |
5.7e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093832
AA Change: Y365N
PolyPhen 2
Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000091352
Gene: ENSMUSG00000056271
AA Change: Y365N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:Lectin_leg-like
|
32 |
256 |
2.7e-53 |
PFAM |
|
low complexity region
|
272 |
287 |
N/A |
INTRINSIC |
|
coiled coil region
|
316 |
337 |
N/A |
INTRINSIC |
|
transmembrane domain
|
439 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215487
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217015
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele are fertile, viable and exhibit normal synaptic transmission. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
A |
G |
14: 70,395,058 (GRCm39) |
V32A |
probably damaging |
Het |
| Als2 |
T |
C |
1: 59,225,679 (GRCm39) |
T944A |
probably benign |
Het |
| Bcat2 |
T |
A |
7: 45,237,778 (GRCm39) |
V348E |
probably damaging |
Het |
| Bnip2 |
A |
G |
9: 69,903,456 (GRCm39) |
D36G |
probably benign |
Het |
| C2cd5 |
T |
A |
6: 143,018,292 (GRCm39) |
D310V |
possibly damaging |
Het |
| Cltc |
G |
A |
11: 86,611,113 (GRCm39) |
T582M |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,125,918 (GRCm39) |
H1896R |
probably benign |
Het |
| Efcab5 |
T |
C |
11: 77,028,501 (GRCm39) |
R413G |
possibly damaging |
Het |
| Fam131b |
C |
T |
6: 42,295,888 (GRCm39) |
M169I |
possibly damaging |
Het |
| Fam241b |
A |
G |
10: 61,945,671 (GRCm39) |
S52P |
probably benign |
Het |
| Gpd2 |
G |
A |
2: 57,194,498 (GRCm39) |
|
probably null |
Het |
| Gucy1a1 |
T |
A |
3: 82,026,331 (GRCm39) |
Q41L |
probably benign |
Het |
| Ifna16 |
T |
C |
4: 88,594,741 (GRCm39) |
D118G |
probably benign |
Het |
| Kcnn1 |
T |
C |
8: 71,299,135 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Lyst |
A |
T |
13: 13,884,144 (GRCm39) |
H2984L |
probably benign |
Het |
| Myh7b |
C |
T |
2: 155,462,403 (GRCm39) |
Q369* |
probably null |
Het |
| Nalcn |
A |
C |
14: 123,518,527 (GRCm39) |
W1671G |
probably benign |
Het |
| Ndrg2 |
G |
A |
14: 52,144,026 (GRCm39) |
|
probably benign |
Het |
| Nfia |
C |
A |
4: 97,951,286 (GRCm39) |
P371Q |
probably damaging |
Het |
| Or10d5 |
A |
C |
9: 39,861,719 (GRCm39) |
|
probably null |
Het |
| Pcdhb22 |
A |
G |
18: 37,652,009 (GRCm39) |
D159G |
probably damaging |
Het |
| Plekhm3 |
A |
T |
1: 64,960,959 (GRCm39) |
D432E |
possibly damaging |
Het |
| Pramel17 |
T |
A |
4: 101,692,594 (GRCm39) |
T469S |
probably benign |
Het |
| Rab2a |
A |
G |
4: 8,606,448 (GRCm39) |
N195S |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,173,308 (GRCm39) |
Y1764H |
possibly damaging |
Het |
| Scap |
A |
G |
9: 110,213,335 (GRCm39) |
T1127A |
possibly damaging |
Het |
| Shld2 |
T |
C |
14: 33,990,328 (GRCm39) |
T193A |
probably benign |
Het |
| Slc45a2 |
A |
G |
15: 11,022,278 (GRCm39) |
D340G |
probably damaging |
Het |
| Tbc1d23 |
A |
T |
16: 57,034,625 (GRCm39) |
L58Q |
probably damaging |
Het |
| Tmcc1 |
T |
C |
6: 116,110,937 (GRCm39) |
T119A |
probably damaging |
Het |
| Tnfsf10 |
C |
A |
3: 27,389,597 (GRCm39) |
Y219* |
probably null |
Het |
| Traip |
G |
A |
9: 107,848,192 (GRCm39) |
R437Q |
probably damaging |
Het |
| Tyw3 |
T |
C |
3: 154,293,187 (GRCm39) |
T163A |
possibly damaging |
Het |
|
| Other mutations in Cplx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01784:Cplx3
|
APN |
9 |
57,527,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02268:Cplx3
|
APN |
9 |
57,509,741 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03164:Cplx3
|
APN |
9 |
57,517,278 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4283001:Cplx3
|
UTSW |
9 |
57,523,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Cplx3
|
UTSW |
9 |
57,521,384 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0601:Cplx3
|
UTSW |
9 |
57,513,357 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1168:Cplx3
|
UTSW |
9 |
57,515,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1169:Cplx3
|
UTSW |
9 |
57,517,278 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1591:Cplx3
|
UTSW |
9 |
57,523,085 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2289:Cplx3
|
UTSW |
9 |
57,520,941 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3848:Cplx3
|
UTSW |
9 |
57,515,600 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4685:Cplx3
|
UTSW |
9 |
57,516,483 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5170:Cplx3
|
UTSW |
9 |
57,522,902 (GRCm39) |
nonsense |
probably null |
|
|
R5309:Cplx3
|
UTSW |
9 |
57,518,360 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5312:Cplx3
|
UTSW |
9 |
57,518,360 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5639:Cplx3
|
UTSW |
9 |
57,519,149 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5655:Cplx3
|
UTSW |
9 |
57,523,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5905:Cplx3
|
UTSW |
9 |
57,515,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6011:Cplx3
|
UTSW |
9 |
57,523,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6028:Cplx3
|
UTSW |
9 |
57,515,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Cplx3
|
UTSW |
9 |
57,519,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6035:Cplx3
|
UTSW |
9 |
57,519,030 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6113:Cplx3
|
UTSW |
9 |
57,509,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6250:Cplx3
|
UTSW |
9 |
57,522,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6488:Cplx3
|
UTSW |
9 |
57,527,926 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6489:Cplx3
|
UTSW |
9 |
57,521,009 (GRCm39) |
splice site |
probably null |
|
|
R6720:Cplx3
|
UTSW |
9 |
57,521,355 (GRCm39) |
splice site |
probably null |
|
|
R7000:Cplx3
|
UTSW |
9 |
57,523,231 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7139:Cplx3
|
UTSW |
9 |
57,522,879 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8822:Cplx3
|
UTSW |
9 |
57,514,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9794:Cplx3
|
UTSW |
9 |
57,509,522 (GRCm39) |
makesense |
probably null |
|
|
R9800:Cplx3
|
UTSW |
9 |
57,523,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0057:Cplx3
|
UTSW |
9 |
57,523,240 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation