Incidental Mutation 'R5170:Cplx3'
| ID |
397510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cplx3
|
| Ensembl Gene |
ENSMUSG00000039714 |
| Gene Name |
complexin 3 |
| Synonyms |
CpxIII, Lman1l |
| MMRRC Submission |
042750-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
57507275-57513564 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 57522902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 153
(R153*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091352
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044937]
[ENSMUST00000093832]
|
| AlphaFold |
Q8R1B5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044937
AA Change: R153*
|
| SMART Domains |
Protein: ENSMUSP00000041631
Gene: ENSMUSG00000056271
AA Change: R153*
| 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 null
Transcript: ENSMUST00000093832
AA Change: R153*
|
| SMART Domains |
Protein: ENSMUSP00000091352
Gene: ENSMUSG00000056271
AA Change: R153*
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,745,969 (GRCm39) |
I51V |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,633,541 (GRCm39) |
K559R |
probably benign |
Het |
| Arhgap30 |
A |
G |
1: 171,235,618 (GRCm39) |
D664G |
probably benign |
Het |
| BC034090 |
A |
G |
1: 155,089,396 (GRCm39) |
V798A |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,167,302 (GRCm39) |
C2237* |
probably null |
Het |
| C3 |
C |
T |
17: 57,530,938 (GRCm39) |
V388M |
probably damaging |
Het |
| Ccdc170 |
G |
A |
10: 4,464,200 (GRCm39) |
E60K |
probably damaging |
Het |
| Cdh8 |
G |
A |
8: 100,006,182 (GRCm39) |
T135M |
probably damaging |
Het |
| Cep131 |
G |
T |
11: 119,961,435 (GRCm39) |
A572E |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,559,655 (GRCm39) |
Y976C |
probably benign |
Het |
| Defa41 |
A |
T |
8: 21,691,696 (GRCm39) |
D26V |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Eno3 |
A |
G |
11: 70,553,040 (GRCm39) |
I393V |
probably benign |
Het |
| Fbxo47 |
A |
G |
11: 97,748,520 (GRCm39) |
V305A |
probably benign |
Het |
| Fry |
G |
A |
5: 150,353,319 (GRCm39) |
V1779M |
probably benign |
Het |
| Gtse1 |
T |
C |
15: 85,748,465 (GRCm39) |
|
probably null |
Het |
| Gucy2e |
A |
T |
11: 69,126,396 (GRCm39) |
L328Q |
probably damaging |
Het |
| Ifi207 |
T |
C |
1: 173,558,064 (GRCm39) |
T225A |
unknown |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,777,356 (GRCm39) |
M1L |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,619,745 (GRCm39) |
D1432G |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,963,380 (GRCm39) |
N988I |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,677,649 (GRCm39) |
E773G |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,761,636 (GRCm39) |
M146K |
probably damaging |
Het |
| Ptx4 |
G |
A |
17: 25,342,152 (GRCm39) |
R209Q |
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,291,634 (GRCm39) |
T340A |
probably damaging |
Het |
| St8sia1 |
T |
C |
6: 142,909,434 (GRCm39) |
K21E |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,684,686 (GRCm39) |
D581G |
probably benign |
Het |
| Sumo2 |
G |
A |
11: 115,425,486 (GRCm39) |
|
probably benign |
Het |
| Supt5 |
G |
A |
7: 28,015,508 (GRCm39) |
P910S |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,142,743 (GRCm39) |
Q158R |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 35,915,633 (GRCm39) |
H1968L |
probably damaging |
Het |
| Trmt1 |
T |
C |
8: 85,421,861 (GRCm39) |
Y220H |
probably damaging |
Het |
| Trp73 |
C |
T |
4: 154,189,295 (GRCm39) |
E60K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,617,413 (GRCm39) |
Y8026H |
probably damaging |
Het |
| Zar1l |
A |
G |
5: 150,441,050 (GRCm39) |
|
probably null |
Het |
| Zfp740 |
T |
C |
15: 102,117,640 (GRCm39) |
Y117H |
probably damaging |
Het |
| Zfp941 |
G |
A |
7: 140,392,870 (GRCm39) |
|
probably benign |
Het |
| Zp1 |
C |
A |
19: 10,897,918 (GRCm39) |
V8F |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAAGGGTCTCAGGTCTAG -3'
(R):5'- CAAACTTGCAGGCCATGTG -3'
Sequencing Primer
(F):5'- CTCAGGTCTAGGAGGGGTAG -3'
(R):5'- GTACACCAAGGACAGGGCTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation