Incidental Mutation 'IGL00911:Clstn1'
| ID |
27225 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clstn1
|
| Ensembl Gene |
ENSMUSG00000039953 |
| Gene Name |
calsyntenin 1 |
| Synonyms |
Cst-1, alcadein alpha, calsyntenin-1, 1810034E21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00911
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
149670925-149733356 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 149727648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039144]
[ENSMUST00000105691]
|
| AlphaFold |
Q9EPL2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039144
|
| SMART Domains |
Protein: ENSMUSP00000036962
Gene: ENSMUSG00000039953
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
59 |
162 |
1.25e-11 |
SMART |
|
CA
|
185 |
263 |
1.03e-3 |
SMART |
|
Pfam:Laminin_G_3
|
365 |
510 |
3.3e-9 |
PFAM |
|
low complexity region
|
663 |
674 |
N/A |
INTRINSIC |
|
transmembrane domain
|
860 |
882 |
N/A |
INTRINSIC |
|
coiled coil region
|
915 |
949 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105691
|
| SMART Domains |
Protein: ENSMUSP00000101316
Gene: ENSMUSG00000039953
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
CA
|
59 |
152 |
2.91e-12 |
SMART |
|
CA
|
175 |
253 |
1.03e-3 |
SMART |
|
Pfam:Laminin_G_3
|
350 |
544 |
1.1e-12 |
PFAM |
|
low complexity region
|
653 |
664 |
N/A |
INTRINSIC |
|
transmembrane domain
|
850 |
872 |
N/A |
INTRINSIC |
|
coiled coil region
|
905 |
939 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the calsyntenin family, a subset of the cadherin superfamily. The encoded transmembrane protein, also known as alcadein-alpha, is thought to bind to kinesin-1 motors to mediate the axonal anterograde transport of certain types of vesicle. Amyloid precursor protein (APP) is trafficked via these vesicles and so this protein is being investigated to see how it might contribute to the mechanisms underlying Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
PHENOTYPE: Juvenile mice homozygous for a null allele show reduced basal excitatory synaptic transmission, abnormal excitatory postsynaptic currents, enhanced NMDA receptor-dependent long term potentiation, and delayed dendritic spine maturation in CA1 hippocampal pyramidal cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
T |
C |
5: 90,673,450 (GRCm39) |
V234A |
probably benign |
Het |
| Alas1 |
T |
A |
9: 106,113,671 (GRCm39) |
I525F |
probably benign |
Het |
| Ambra1 |
T |
A |
2: 91,598,027 (GRCm39) |
|
probably benign |
Het |
| Apbb2 |
G |
A |
5: 66,608,855 (GRCm39) |
T264M |
probably damaging |
Het |
| Arb2a |
T |
A |
13: 78,100,094 (GRCm39) |
|
probably benign |
Het |
| Arhgap40 |
A |
G |
2: 158,376,636 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,778,320 (GRCm39) |
P2793L |
probably damaging |
Het |
| Cyp2f2 |
T |
C |
7: 26,821,354 (GRCm39) |
V13A |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,026,391 (GRCm39) |
|
probably null |
Het |
| Eogt |
A |
T |
6: 97,096,961 (GRCm39) |
V349E |
probably damaging |
Het |
| Epb41 |
T |
C |
4: 131,717,095 (GRCm39) |
D353G |
possibly damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,663,871 (GRCm39) |
I207F |
possibly damaging |
Het |
| Frem2 |
T |
C |
3: 53,479,883 (GRCm39) |
S1937G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,130,882 (GRCm39) |
G500* |
probably null |
Het |
| Khdc1b |
A |
T |
1: 21,454,578 (GRCm39) |
K94* |
probably null |
Het |
| Lpcat2 |
T |
C |
8: 93,617,338 (GRCm39) |
Y367H |
probably damaging |
Het |
| Lrrd1 |
A |
C |
5: 3,915,689 (GRCm39) |
N762T |
probably benign |
Het |
| Mbl2 |
T |
A |
19: 30,215,794 (GRCm39) |
D100E |
possibly damaging |
Het |
| Mthfr |
T |
G |
4: 148,125,759 (GRCm39) |
S31A |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,202,688 (GRCm39) |
S558T |
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,171,366 (GRCm39) |
L1254P |
probably damaging |
Het |
| Or2ag12 |
A |
T |
7: 106,277,040 (GRCm39) |
Y218N |
probably damaging |
Het |
| Pabpc1l |
C |
A |
2: 163,884,343 (GRCm39) |
T360K |
probably damaging |
Het |
| Pcgf1 |
G |
A |
6: 83,057,606 (GRCm39) |
G92S |
probably damaging |
Het |
| Penk |
T |
C |
4: 4,134,347 (GRCm39) |
Y100C |
probably damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,894,169 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,187,971 (GRCm39) |
T3446S |
probably benign |
Het |
| Plcg2 |
G |
A |
8: 118,313,254 (GRCm39) |
D473N |
probably benign |
Het |
| Poll |
G |
T |
19: 45,542,040 (GRCm39) |
T422K |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,113,106 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
C |
A |
10: 86,805,617 (GRCm39) |
C243F |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,122,007 (GRCm39) |
E215G |
possibly damaging |
Het |
| Tas1r2 |
C |
A |
4: 139,387,602 (GRCm39) |
P354T |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 35,899,560 (GRCm39) |
Q2533* |
probably null |
Het |
| Tmem121 |
C |
T |
12: 113,151,851 (GRCm39) |
A23V |
probably damaging |
Het |
|
| Other mutations in Clstn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00486:Clstn1
|
APN |
4 |
149,719,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00585:Clstn1
|
APN |
4 |
149,722,769 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01394:Clstn1
|
APN |
4 |
149,719,239 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02193:Clstn1
|
APN |
4 |
149,729,809 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02406:Clstn1
|
APN |
4 |
149,711,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02501:Clstn1
|
APN |
4 |
149,716,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02641:Clstn1
|
APN |
4 |
149,713,968 (GRCm39) |
missense |
probably null |
1.00 |
|
R0012:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0020:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0021:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0026:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0031:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0038:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0062:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0064:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0193:Clstn1
|
UTSW |
4 |
149,719,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0279:Clstn1
|
UTSW |
4 |
149,728,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0394:Clstn1
|
UTSW |
4 |
149,728,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0609:Clstn1
|
UTSW |
4 |
149,713,757 (GRCm39) |
splice site |
probably null |
|
|
R0685:Clstn1
|
UTSW |
4 |
149,731,312 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0724:Clstn1
|
UTSW |
4 |
149,728,081 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1016:Clstn1
|
UTSW |
4 |
149,731,286 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1470:Clstn1
|
UTSW |
4 |
149,719,179 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1470:Clstn1
|
UTSW |
4 |
149,719,179 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1622:Clstn1
|
UTSW |
4 |
149,713,864 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1680:Clstn1
|
UTSW |
4 |
149,728,183 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3803:Clstn1
|
UTSW |
4 |
149,719,796 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3836:Clstn1
|
UTSW |
4 |
149,722,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3838:Clstn1
|
UTSW |
4 |
149,722,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4923:Clstn1
|
UTSW |
4 |
149,729,486 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5024:Clstn1
|
UTSW |
4 |
149,719,751 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5919:Clstn1
|
UTSW |
4 |
149,719,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6269:Clstn1
|
UTSW |
4 |
149,728,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6354:Clstn1
|
UTSW |
4 |
149,727,673 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6382:Clstn1
|
UTSW |
4 |
149,710,577 (GRCm39) |
splice site |
probably null |
|
|
R6573:Clstn1
|
UTSW |
4 |
149,728,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7342:Clstn1
|
UTSW |
4 |
149,713,887 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7457:Clstn1
|
UTSW |
4 |
149,719,373 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7571:Clstn1
|
UTSW |
4 |
149,730,744 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7682:Clstn1
|
UTSW |
4 |
149,710,558 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7738:Clstn1
|
UTSW |
4 |
149,719,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7803:Clstn1
|
UTSW |
4 |
149,716,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7904:Clstn1
|
UTSW |
4 |
149,698,594 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7918:Clstn1
|
UTSW |
4 |
149,728,508 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8007:Clstn1
|
UTSW |
4 |
149,716,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8821:Clstn1
|
UTSW |
4 |
149,730,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8831:Clstn1
|
UTSW |
4 |
149,730,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9169:Clstn1
|
UTSW |
4 |
149,731,322 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9173:Clstn1
|
UTSW |
4 |
149,710,564 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9463:Clstn1
|
UTSW |
4 |
149,698,564 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9491:Clstn1
|
UTSW |
4 |
149,731,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9615:Clstn1
|
UTSW |
4 |
149,722,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Clstn1
|
UTSW |
4 |
149,719,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation