Incidental Mutation 'R1734:Clstn3'
ID |
199564 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Clstn3
|
Ensembl Gene |
ENSMUSG00000008153 |
Gene Name |
calsyntenin 3 |
Synonyms |
Cst-3, CSTN3, alcadein-beta |
MMRRC Submission |
039766-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1734 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
124407715-124441743 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 124413773 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108142
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008297]
[ENSMUST00000112523]
|
AlphaFold |
Q99JH7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000008297
|
SMART Domains |
Protein: ENSMUSP00000008297 Gene: ENSMUSG00000008153
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 benign
Transcript: ENSMUST00000112523
|
SMART Domains |
Protein: ENSMUSP00000108142 Gene: ENSMUSG00000008153
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 |
noncoding transcript
Transcript: ENSMUST00000124998
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143283
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147947
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 92.9%
|
Validation Efficiency |
98% (59/60) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
A |
T |
4: 144,396,596 (GRCm39) |
C379S |
probably benign |
Het |
Abca13 |
T |
C |
11: 9,535,460 (GRCm39) |
C4695R |
probably benign |
Het |
Actr10 |
T |
A |
12: 71,008,770 (GRCm39) |
V401E |
probably benign |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Aimp1 |
A |
T |
3: 132,380,557 (GRCm39) |
I59K |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,618,532 (GRCm39) |
|
probably null |
Het |
Anln |
A |
T |
9: 22,262,251 (GRCm39) |
S947T |
possibly damaging |
Het |
Atp2c1 |
T |
C |
9: 105,291,854 (GRCm39) |
T733A |
probably damaging |
Het |
BC049715 |
C |
T |
6: 136,817,306 (GRCm39) |
P182L |
probably damaging |
Het |
Cblb |
T |
C |
16: 52,006,603 (GRCm39) |
|
probably benign |
Het |
Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Chac1 |
A |
T |
2: 119,183,939 (GRCm39) |
L180F |
probably damaging |
Het |
Cherp |
A |
T |
8: 73,223,932 (GRCm39) |
|
probably null |
Het |
Ckap4 |
A |
G |
10: 84,363,738 (GRCm39) |
S442P |
probably benign |
Het |
Crb2 |
T |
A |
2: 37,683,668 (GRCm39) |
C1057S |
probably damaging |
Het |
Dact2 |
T |
C |
17: 14,416,901 (GRCm39) |
D433G |
probably benign |
Het |
Dnah6 |
G |
A |
6: 73,021,744 (GRCm39) |
T3526M |
probably damaging |
Het |
Ethe1 |
A |
G |
7: 24,307,809 (GRCm39) |
T210A |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,172,197 (GRCm39) |
S2839P |
probably benign |
Het |
Fbxl7 |
T |
C |
15: 26,543,735 (GRCm39) |
Y304C |
probably damaging |
Het |
Gad1-ps |
A |
T |
10: 99,281,637 (GRCm39) |
|
noncoding transcript |
Het |
Grm3 |
C |
T |
5: 9,639,742 (GRCm39) |
R101K |
probably benign |
Het |
Hspa12b |
A |
G |
2: 130,980,456 (GRCm39) |
Y125C |
possibly damaging |
Het |
Il10ra |
T |
C |
9: 45,167,241 (GRCm39) |
T437A |
probably benign |
Het |
Itprid2 |
G |
A |
2: 79,488,166 (GRCm39) |
V750M |
probably damaging |
Het |
Jcad |
T |
C |
18: 4,674,526 (GRCm39) |
F763L |
probably damaging |
Het |
Map3k10 |
T |
C |
7: 27,357,540 (GRCm39) |
D746G |
probably damaging |
Het |
Mettl9 |
T |
A |
7: 120,647,064 (GRCm39) |
Y57N |
probably damaging |
Het |
Nav2 |
G |
A |
7: 49,225,468 (GRCm39) |
E1803K |
probably damaging |
Het |
Nol11 |
G |
A |
11: 107,066,449 (GRCm39) |
S447L |
possibly damaging |
Het |
Or14a256 |
C |
T |
7: 86,265,425 (GRCm39) |
V143M |
probably benign |
Het |
Osbpl1a |
T |
C |
18: 12,921,373 (GRCm39) |
|
probably null |
Het |
Pde6a |
A |
G |
18: 61,419,036 (GRCm39) |
N804S |
probably damaging |
Het |
Pepd |
A |
T |
7: 34,730,851 (GRCm39) |
D301V |
probably benign |
Het |
Piwil2 |
A |
T |
14: 70,663,954 (GRCm39) |
|
probably null |
Het |
Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
Prrc2a |
A |
G |
17: 35,369,683 (GRCm39) |
S1877P |
possibly damaging |
Het |
Retreg2 |
G |
T |
1: 75,119,630 (GRCm39) |
|
probably null |
Het |
Slc7a11 |
G |
A |
3: 50,326,795 (GRCm39) |
Q489* |
probably null |
Het |
Sned1 |
G |
A |
1: 93,187,490 (GRCm39) |
D256N |
probably damaging |
Het |
Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
Spmip9 |
T |
A |
6: 70,890,645 (GRCm39) |
Q49L |
probably benign |
Het |
Syce2 |
G |
A |
8: 85,613,776 (GRCm39) |
E168K |
probably benign |
Het |
Tmem260 |
G |
T |
14: 48,746,550 (GRCm39) |
V609L |
probably benign |
Het |
Trim35 |
A |
G |
14: 66,546,778 (GRCm39) |
D515G |
probably damaging |
Het |
Tspan5 |
T |
C |
3: 138,603,901 (GRCm39) |
Y131H |
probably damaging |
Het |
Ttbk2 |
T |
C |
2: 120,586,319 (GRCm39) |
I466V |
probably benign |
Het |
Ttn |
T |
C |
2: 76,576,157 (GRCm39) |
D24912G |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,603,323 (GRCm39) |
N1843K |
probably damaging |
Het |
Vmn1r20 |
A |
G |
6: 57,409,285 (GRCm39) |
R204G |
probably damaging |
Het |
Vps18 |
A |
T |
2: 119,124,423 (GRCm39) |
Q450L |
probably benign |
Het |
Zbtb4 |
A |
G |
11: 69,667,289 (GRCm39) |
E198G |
probably benign |
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 |
IGL01998:Clstn3
|
APN |
6 |
124,435,622 (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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACCTTCCCAGTGAAGTTGAGGATG -3'
(R):5'- GCCCATTGTGTTATGAGTCCTACCC -3'
Sequencing Primer
(F):5'- GATGAAGCGATTGTCCCACC -3'
(R):5'- GTGTTATGAGTCCTACCCCAAGTTAG -3'
|
Posted On |
2014-05-23 |