Incidental Mutation 'IGL01998:Clstn3'
| ID |
182963 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Clstn3
|
| Ensembl Gene |
ENSMUSG00000008153 |
| Gene Name |
calsyntenin 3 |
| Synonyms |
Cst-3, CSTN3, alcadein-beta |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01998
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
124407715-124441743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124435622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 233
(L233Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008297]
[ENSMUST00000112523]
[ENSMUST00000150774]
|
| AlphaFold |
Q99JH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008297
AA Change: L270Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000008297
Gene: ENSMUSG00000008153
AA Change: L270Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
CA
|
50 |
143 |
2.72e-12 |
SMART |
|
CA
|
166 |
244 |
4.04e-2 |
SMART |
|
SCOP:d1a8d_1
|
333 |
549 |
7e-23 |
SMART |
|
transmembrane domain
|
846 |
868 |
N/A |
INTRINSIC |
|
low complexity region
|
928 |
945 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112523
AA Change: L233Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108142
Gene: ENSMUSG00000008153
AA Change: L233Q
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
13 |
106 |
2.72e-12 |
SMART |
|
CA
|
129 |
207 |
4.04e-2 |
SMART |
|
Pfam:Laminin_G_3
|
304 |
505 |
4.1e-8 |
PFAM |
|
transmembrane domain
|
809 |
831 |
N/A |
INTRINSIC |
|
low complexity region
|
891 |
908 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150774
|
| SMART Domains |
Protein: ENSMUSP00000145422
Gene: ENSMUSG00000008153
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
13 |
64 |
4e-31 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156040
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reductions in excitatory and inhibitory synapse density and deficits in synaptic transmission. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arpc3 |
T |
C |
5: 122,541,470 (GRCm39) |
C78R |
probably damaging |
Het |
| Atp6v0b |
A |
G |
4: 117,743,263 (GRCm39) |
|
probably null |
Het |
| B3gnt8 |
A |
G |
7: 25,328,203 (GRCm39) |
Y211C |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,886,880 (GRCm39) |
I736T |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,011,165 (GRCm39) |
S1788P |
possibly damaging |
Het |
| Bpifb9a |
T |
C |
2: 154,110,120 (GRCm39) |
|
probably null |
Het |
| C3ar1 |
A |
T |
6: 122,827,899 (GRCm39) |
M106K |
probably damaging |
Het |
| C9orf72 |
A |
T |
4: 35,194,179 (GRCm39) |
D205E |
probably benign |
Het |
| Cab39l |
T |
A |
14: 59,734,344 (GRCm39) |
L21Q |
probably damaging |
Het |
| Casp1 |
A |
T |
9: 5,303,043 (GRCm39) |
I166F |
probably damaging |
Het |
| Cd180 |
A |
G |
13: 102,841,722 (GRCm39) |
E256G |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,663,887 (GRCm39) |
T519A |
probably damaging |
Het |
| Crlf3 |
G |
A |
11: 79,948,845 (GRCm39) |
|
probably benign |
Het |
| Depdc5 |
T |
C |
5: 33,102,495 (GRCm39) |
|
probably benign |
Het |
| Drc7 |
T |
A |
8: 95,785,821 (GRCm39) |
C226S |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,232,593 (GRCm39) |
D807V |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,187,021 (GRCm39) |
L1275P |
probably benign |
Het |
| Fv1 |
T |
C |
4: 147,953,784 (GRCm39) |
C117R |
possibly damaging |
Het |
| Ighg2b |
C |
A |
12: 113,270,709 (GRCm39) |
M140I |
unknown |
Het |
| Klra5 |
A |
T |
6: 129,883,676 (GRCm39) |
Y60* |
probably null |
Het |
| Lmtk2 |
C |
T |
5: 144,112,883 (GRCm39) |
T1201I |
probably damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,150,078 (GRCm39) |
S917T |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,146,896 (GRCm39) |
L1230H |
probably damaging |
Het |
| Nfx1 |
T |
A |
4: 41,004,353 (GRCm39) |
I708N |
probably damaging |
Het |
| Notch2 |
A |
T |
3: 98,050,422 (GRCm39) |
D1899V |
probably damaging |
Het |
| Npepl1 |
T |
A |
2: 173,957,993 (GRCm39) |
|
probably benign |
Het |
| Nps |
T |
A |
7: 134,870,481 (GRCm39) |
|
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,408,162 (GRCm39) |
S24G |
probably damaging |
Het |
| Or1j20 |
A |
G |
2: 36,759,658 (GRCm39) |
N27D |
probably benign |
Het |
| Or2ag16 |
G |
A |
7: 106,351,758 (GRCm39) |
T279M |
possibly damaging |
Het |
| Or2t48 |
A |
T |
11: 58,420,403 (GRCm39) |
Y136* |
probably null |
Het |
| Or4k2 |
C |
A |
14: 50,424,105 (GRCm39) |
V190L |
probably benign |
Het |
| Pigx |
G |
T |
16: 31,903,428 (GRCm39) |
T211K |
probably benign |
Het |
| Pink1 |
A |
G |
4: 138,048,053 (GRCm39) |
I223T |
probably damaging |
Het |
| Plat |
G |
A |
8: 23,257,163 (GRCm39) |
A15T |
probably benign |
Het |
| Ptges2 |
G |
A |
2: 32,291,542 (GRCm39) |
A310T |
possibly damaging |
Het |
| Rsl1d1 |
A |
G |
16: 11,012,509 (GRCm39) |
S306P |
possibly damaging |
Het |
| Rxfp1 |
T |
C |
3: 79,567,403 (GRCm39) |
K316E |
probably benign |
Het |
| Scn10a |
A |
G |
9: 119,438,742 (GRCm39) |
I1708T |
probably damaging |
Het |
| Sdk2 |
A |
T |
11: 113,729,358 (GRCm39) |
F1073Y |
probably damaging |
Het |
| Sp100 |
A |
G |
1: 85,594,650 (GRCm39) |
D170G |
probably benign |
Het |
| Spock1 |
A |
T |
13: 57,583,994 (GRCm39) |
|
probably benign |
Het |
| Strbp |
A |
G |
2: 37,515,297 (GRCm39) |
L243P |
probably damaging |
Het |
| Tex55 |
A |
T |
16: 38,648,586 (GRCm39) |
D174E |
probably benign |
Het |
| Tgm5 |
T |
A |
2: 120,882,920 (GRCm39) |
T446S |
probably damaging |
Het |
| Tmem59l |
C |
T |
8: 70,937,431 (GRCm39) |
V239I |
probably benign |
Het |
| Trav8-1 |
A |
T |
14: 53,707,662 (GRCm39) |
T101S |
probably benign |
Het |
| Triml1 |
T |
C |
8: 43,594,350 (GRCm39) |
D27G |
probably damaging |
Het |
| Vmn2r54 |
T |
C |
7: 12,349,227 (GRCm39) |
E785G |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,862,350 (GRCm39) |
|
probably null |
Het |
| Wwp2 |
C |
T |
8: 108,276,153 (GRCm39) |
R64C |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,024,890 (GRCm39) |
H1460R |
probably damaging |
Het |
|
| Other mutations in Clstn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01068:Clstn3
|
APN |
6 |
124,439,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01415:Clstn3
|
APN |
6 |
124,415,781 (GRCm39) |
nonsense |
probably null |
|
|
IGL01521:Clstn3
|
APN |
6 |
124,434,990 (GRCm39) |
nonsense |
probably null |
|
|
IGL01537:Clstn3
|
APN |
6 |
124,408,559 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01729:Clstn3
|
APN |
6 |
124,426,753 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01879:Clstn3
|
APN |
6 |
124,415,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03130:Clstn3
|
APN |
6 |
124,436,222 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03405:Clstn3
|
APN |
6 |
124,415,327 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4403001:Clstn3
|
UTSW |
6 |
124,434,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Clstn3
|
UTSW |
6 |
124,436,812 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0049:Clstn3
|
UTSW |
6 |
124,436,812 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0208:Clstn3
|
UTSW |
6 |
124,409,128 (GRCm39) |
splice site |
probably benign |
|
|
R0276:Clstn3
|
UTSW |
6 |
124,408,699 (GRCm39) |
splice site |
probably benign |
|
|
R0440:Clstn3
|
UTSW |
6 |
124,428,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Clstn3
|
UTSW |
6 |
124,426,459 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1200:Clstn3
|
UTSW |
6 |
124,436,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1224:Clstn3
|
UTSW |
6 |
124,434,878 (GRCm39) |
missense |
probably benign |
|
|
R1378:Clstn3
|
UTSW |
6 |
124,415,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1491:Clstn3
|
UTSW |
6 |
124,414,449 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1495:Clstn3
|
UTSW |
6 |
124,426,876 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1511:Clstn3
|
UTSW |
6 |
124,439,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1655:Clstn3
|
UTSW |
6 |
124,414,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Clstn3
|
UTSW |
6 |
124,408,591 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1734:Clstn3
|
UTSW |
6 |
124,413,773 (GRCm39) |
splice site |
probably benign |
|
|
R1751:Clstn3
|
UTSW |
6 |
124,408,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Clstn3
|
UTSW |
6 |
124,436,257 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2133:Clstn3
|
UTSW |
6 |
124,426,462 (GRCm39) |
missense |
probably benign |
|
|
R2192:Clstn3
|
UTSW |
6 |
124,436,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2314:Clstn3
|
UTSW |
6 |
124,427,676 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2874:Clstn3
|
UTSW |
6 |
124,415,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3500:Clstn3
|
UTSW |
6 |
124,408,670 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3761:Clstn3
|
UTSW |
6 |
124,434,835 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R3878:Clstn3
|
UTSW |
6 |
124,434,901 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3927:Clstn3
|
UTSW |
6 |
124,428,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3934:Clstn3
|
UTSW |
6 |
124,434,901 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3935:Clstn3
|
UTSW |
6 |
124,434,901 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4063:Clstn3
|
UTSW |
6 |
124,426,792 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4402:Clstn3
|
UTSW |
6 |
124,433,939 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4534:Clstn3
|
UTSW |
6 |
124,436,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Clstn3
|
UTSW |
6 |
124,414,331 (GRCm39) |
splice site |
probably null |
|
|
R4834:Clstn3
|
UTSW |
6 |
124,408,912 (GRCm39) |
splice site |
probably null |
|
|
R5921:Clstn3
|
UTSW |
6 |
124,408,539 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5932:Clstn3
|
UTSW |
6 |
124,415,291 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6025:Clstn3
|
UTSW |
6 |
124,408,623 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6101:Clstn3
|
UTSW |
6 |
124,438,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360:Clstn3
|
UTSW |
6 |
124,415,388 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6578:Clstn3
|
UTSW |
6 |
124,427,663 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6813:Clstn3
|
UTSW |
6 |
124,413,894 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7380:Clstn3
|
UTSW |
6 |
124,433,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7419:Clstn3
|
UTSW |
6 |
124,435,088 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7625:Clstn3
|
UTSW |
6 |
124,414,377 (GRCm39) |
nonsense |
probably null |
|
|
R7780:Clstn3
|
UTSW |
6 |
124,439,161 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7936:Clstn3
|
UTSW |
6 |
124,408,972 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7939:Clstn3
|
UTSW |
6 |
124,439,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8047:Clstn3
|
UTSW |
6 |
124,408,972 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8079:Clstn3
|
UTSW |
6 |
124,436,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8085:Clstn3
|
UTSW |
6 |
124,435,683 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8299:Clstn3
|
UTSW |
6 |
124,414,332 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8406:Clstn3
|
UTSW |
6 |
124,439,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8685:Clstn3
|
UTSW |
6 |
124,433,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9045:Clstn3
|
UTSW |
6 |
124,408,921 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9209:Clstn3
|
UTSW |
6 |
124,408,571 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9264:Clstn3
|
UTSW |
6 |
124,436,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9268:Clstn3
|
UTSW |
6 |
124,433,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9443:Clstn3
|
UTSW |
6 |
124,428,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF014:Clstn3
|
UTSW |
6 |
124,436,225 (GRCm39) |
nonsense |
probably null |
|
|
X0066:Clstn3
|
UTSW |
6 |
124,426,770 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1176:Clstn3
|
UTSW |
6 |
124,436,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Clstn3
|
UTSW |
6 |
124,426,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation