Incidental Mutation 'IGL01784:Cplx3'
ID |
154244 |
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 # |
IGL01784
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
57507275-57513564 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57527847 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 36
(Y36C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091352
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044937]
[ENSMUST00000093832]
|
AlphaFold |
Q8R1B5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044937
AA Change: Y36C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041631 Gene: ENSMUSG00000056271 AA Change: Y36C
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 damaging
Transcript: ENSMUST00000093832
AA Change: Y36C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091352 Gene: ENSMUSG00000056271 AA Change: Y36C
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 |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
C |
T |
11: 58,771,445 (GRCm39) |
P309L |
possibly damaging |
Het |
Abca4 |
A |
T |
3: 121,932,154 (GRCm39) |
K269N |
probably benign |
Het |
Abcb5 |
T |
C |
12: 118,854,399 (GRCm39) |
T839A |
probably benign |
Het |
Adcy7 |
A |
G |
8: 89,040,751 (GRCm39) |
D30G |
probably damaging |
Het |
Aldh3b1 |
A |
G |
19: 3,971,217 (GRCm39) |
I149T |
probably benign |
Het |
Ap3b1 |
A |
G |
13: 94,630,247 (GRCm39) |
D199G |
probably damaging |
Het |
Ddo |
A |
G |
10: 40,507,784 (GRCm39) |
|
probably benign |
Het |
Ensa |
T |
A |
3: 95,535,844 (GRCm39) |
|
probably benign |
Het |
Etnppl |
A |
G |
3: 130,425,427 (GRCm39) |
I405V |
possibly damaging |
Het |
Fam171b |
T |
A |
2: 83,710,031 (GRCm39) |
L568M |
possibly damaging |
Het |
Fmn2 |
A |
G |
1: 174,329,994 (GRCm39) |
D128G |
unknown |
Het |
Fra10ac1 |
T |
A |
19: 38,208,125 (GRCm39) |
H43L |
probably benign |
Het |
Gm7589 |
T |
C |
9: 59,053,310 (GRCm39) |
|
noncoding transcript |
Het |
Gsx1 |
A |
G |
5: 147,126,939 (GRCm39) |
D254G |
probably benign |
Het |
Hoxb6 |
A |
G |
11: 96,191,639 (GRCm39) |
E187G |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,518,524 (GRCm39) |
I2385N |
probably damaging |
Het |
Mc3r |
T |
A |
2: 172,091,290 (GRCm39) |
C171S |
probably benign |
Het |
Mccc1 |
T |
G |
3: 36,030,897 (GRCm39) |
N390H |
probably damaging |
Het |
Mphosph9 |
T |
C |
5: 124,403,373 (GRCm39) |
|
probably benign |
Het |
Nfic |
T |
C |
10: 81,241,982 (GRCm39) |
D364G |
possibly damaging |
Het |
Niban1 |
T |
A |
1: 151,525,116 (GRCm39) |
Y174N |
probably damaging |
Het |
Npy |
A |
G |
6: 49,806,314 (GRCm39) |
|
probably benign |
Het |
Or6c8 |
C |
T |
10: 128,915,224 (GRCm39) |
V203M |
probably benign |
Het |
Osbpl3 |
A |
G |
6: 50,321,902 (GRCm39) |
S75P |
probably damaging |
Het |
Plekhg4 |
G |
T |
8: 106,105,589 (GRCm39) |
A685S |
probably damaging |
Het |
Pramel51 |
A |
G |
12: 88,143,085 (GRCm39) |
Y178H |
probably benign |
Het |
Prss53 |
T |
C |
7: 127,485,724 (GRCm39) |
T539A |
probably benign |
Het |
Rnf43 |
T |
A |
11: 87,622,632 (GRCm39) |
S537T |
possibly damaging |
Het |
Rpgrip1l |
G |
A |
8: 91,997,089 (GRCm39) |
T597I |
possibly damaging |
Het |
Rtn4 |
C |
A |
11: 29,657,291 (GRCm39) |
Q482K |
probably damaging |
Het |
Sema3g |
T |
C |
14: 30,944,924 (GRCm39) |
I349T |
probably damaging |
Het |
Sh3gl1 |
A |
C |
17: 56,326,325 (GRCm39) |
S108A |
possibly damaging |
Het |
Tmc7 |
A |
T |
7: 118,146,538 (GRCm39) |
|
probably null |
Het |
Tmem131 |
G |
A |
1: 36,854,564 (GRCm39) |
T131I |
probably damaging |
Het |
Vac14 |
T |
C |
8: 111,397,800 (GRCm39) |
L505P |
probably benign |
Het |
Wasf2 |
A |
G |
4: 132,919,439 (GRCm39) |
Q231R |
unknown |
Het |
Wnt7a |
A |
G |
6: 91,342,839 (GRCm39) |
C348R |
probably damaging |
Het |
Zkscan6 |
T |
A |
11: 65,705,547 (GRCm39) |
L86Q |
probably damaging |
Het |
|
Other mutations in Cplx3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL03226:Cplx3
|
APN |
9 |
57,517,290 (GRCm39) |
missense |
probably benign |
0.43 |
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 |
2014-02-04 |