Incidental Mutation 'R0049:Clstn3'
| ID |
16058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clstn3
|
| Ensembl Gene |
ENSMUSG00000008153 |
| Gene Name |
calsyntenin 3 |
| Synonyms |
Cst-3, CSTN3, alcadein-beta |
| MMRRC Submission |
038343-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0049 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124407715-124441743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 124436812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 132
(I132F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008297]
[ENSMUST00000112523]
[ENSMUST00000150774]
|
| AlphaFold |
Q99JH7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000008297
AA Change: I169F
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000008297
Gene: ENSMUSG00000008153
AA Change: I169F
| 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 |
possibly damaging
Transcript: ENSMUST00000112523
AA Change: I132F
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108142
Gene: ENSMUSG00000008153
AA Change: I132F
| 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
|
| Meta Mutation Damage Score |
0.1239 |
| Coding Region Coverage |
- 1x: 90.0%
- 3x: 87.7%
- 10x: 82.4%
- 20x: 74.6%
|
| Validation Efficiency |
89% (108/122) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,615,267 (GRCm39) |
H9L |
possibly damaging |
Het |
| Aars1 |
T |
A |
8: 111,779,083 (GRCm39) |
I739K |
possibly damaging |
Het |
| Acod1 |
T |
A |
14: 103,292,643 (GRCm39) |
I389K |
possibly damaging |
Het |
| Akap1 |
C |
A |
11: 88,730,450 (GRCm39) |
|
probably null |
Het |
| Anxa7 |
T |
C |
14: 20,512,678 (GRCm39) |
D285G |
probably damaging |
Het |
| Arhgap1 |
T |
C |
2: 91,500,514 (GRCm39) |
Y308H |
probably damaging |
Het |
| Arhgef11 |
T |
A |
3: 87,636,500 (GRCm39) |
|
probably null |
Het |
| Atosb |
A |
T |
4: 43,036,441 (GRCm39) |
S97T |
probably benign |
Het |
| Atp6v0a4 |
G |
A |
6: 38,059,016 (GRCm39) |
R256C |
probably damaging |
Het |
| Camsap3 |
C |
A |
8: 3,648,772 (GRCm39) |
S163R |
probably benign |
Het |
| Ccdc110 |
A |
T |
8: 46,395,663 (GRCm39) |
E518V |
probably damaging |
Het |
| Ccdc180 |
G |
A |
4: 45,930,119 (GRCm39) |
|
probably null |
Het |
| Ccnt1 |
T |
C |
15: 98,462,960 (GRCm39) |
M71V |
probably benign |
Het |
| Celsr2 |
T |
A |
3: 108,304,570 (GRCm39) |
Y2263F |
probably benign |
Het |
| Cfap69 |
T |
C |
5: 5,663,734 (GRCm39) |
T498A |
probably benign |
Het |
| Cnot4 |
A |
G |
6: 35,028,212 (GRCm39) |
V468A |
probably benign |
Het |
| Crmp1 |
T |
G |
5: 37,422,617 (GRCm39) |
D141E |
possibly damaging |
Het |
| Cryz |
C |
A |
3: 154,317,189 (GRCm39) |
A136D |
probably damaging |
Het |
| Dcst2 |
T |
C |
3: 89,278,913 (GRCm39) |
V550A |
probably benign |
Het |
| Dph6 |
A |
G |
2: 114,353,525 (GRCm39) |
V221A |
probably benign |
Het |
| Ecm2 |
A |
T |
13: 49,677,922 (GRCm39) |
K403* |
probably null |
Het |
| Eif3d |
T |
C |
15: 77,843,924 (GRCm39) |
N474S |
probably benign |
Het |
| F12 |
T |
C |
13: 55,574,130 (GRCm39) |
D34G |
probably benign |
Het |
| Fam228b |
A |
T |
12: 4,798,117 (GRCm39) |
F200Y |
probably damaging |
Het |
| Fgl2 |
T |
A |
5: 21,580,661 (GRCm39) |
D334E |
possibly damaging |
Het |
| Fras1 |
T |
A |
5: 96,924,481 (GRCm39) |
F3641I |
probably benign |
Het |
| Gabrb2 |
T |
G |
11: 42,484,674 (GRCm39) |
Y244D |
probably damaging |
Het |
| Gcc1 |
A |
T |
6: 28,421,268 (GRCm39) |
D16E |
probably benign |
Het |
| Gm10648 |
T |
C |
7: 28,561,202 (GRCm39) |
|
probably benign |
Het |
| Gorasp2 |
T |
C |
2: 70,521,067 (GRCm39) |
S346P |
possibly damaging |
Het |
| Htt |
A |
C |
5: 35,066,006 (GRCm39) |
K3060N |
probably damaging |
Het |
| Ibsp |
C |
T |
5: 104,450,024 (GRCm39) |
L8F |
probably damaging |
Het |
| Kif27 |
A |
T |
13: 58,451,378 (GRCm39) |
D983E |
probably damaging |
Het |
| Kif3a |
T |
A |
11: 53,481,560 (GRCm39) |
|
probably benign |
Het |
| Kif3c |
A |
C |
12: 3,417,090 (GRCm39) |
K370N |
possibly damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,468,256 (GRCm39) |
|
probably benign |
Het |
| Maz |
A |
T |
7: 126,623,758 (GRCm39) |
D74E |
probably damaging |
Het |
| Med21 |
T |
C |
6: 146,551,732 (GRCm39) |
S128P |
probably damaging |
Het |
| Mms19 |
A |
C |
19: 41,943,607 (GRCm39) |
M374R |
probably damaging |
Het |
| Mrpl3 |
T |
C |
9: 104,932,872 (GRCm39) |
V111A |
probably benign |
Het |
| Mtfr2 |
T |
A |
10: 20,224,158 (GRCm39) |
Y31N |
probably damaging |
Het |
| Neb |
A |
C |
2: 52,060,479 (GRCm39) |
M2286R |
possibly damaging |
Het |
| Ngf |
A |
T |
3: 102,427,661 (GRCm39) |
R137* |
probably null |
Het |
| Nr1i3 |
T |
A |
1: 171,041,982 (GRCm39) |
V22E |
probably damaging |
Het |
| Nxpe5 |
T |
C |
5: 138,249,566 (GRCm39) |
V452A |
probably damaging |
Het |
| Or11g27 |
A |
T |
14: 50,771,151 (GRCm39) |
K94M |
probably damaging |
Het |
| Pax3 |
A |
G |
1: 78,080,141 (GRCm39) |
L415P |
probably damaging |
Het |
| Pcnt |
G |
T |
10: 76,205,655 (GRCm39) |
|
probably benign |
Het |
| Peg3 |
G |
T |
7: 6,714,672 (GRCm39) |
D183E |
possibly damaging |
Het |
| Pglyrp1 |
G |
T |
7: 18,623,313 (GRCm39) |
G120V |
probably damaging |
Het |
| Pomt1 |
T |
A |
2: 32,142,023 (GRCm39) |
H584Q |
possibly damaging |
Het |
| Prkcq |
G |
A |
2: 11,288,643 (GRCm39) |
G532E |
probably benign |
Het |
| Pwp1 |
A |
G |
10: 85,721,480 (GRCm39) |
T361A |
possibly damaging |
Het |
| Rab4a |
A |
T |
8: 124,554,081 (GRCm39) |
H5L |
probably damaging |
Het |
| Ramp1 |
T |
C |
1: 91,124,592 (GRCm39) |
I51T |
possibly damaging |
Het |
| Raph1 |
G |
T |
1: 60,565,058 (GRCm39) |
T143K |
probably benign |
Het |
| Rhpn1 |
A |
G |
15: 75,581,088 (GRCm39) |
E110G |
possibly damaging |
Het |
| Rnf168 |
A |
T |
16: 32,117,287 (GRCm39) |
T283S |
possibly damaging |
Het |
| Ros1 |
T |
A |
10: 51,977,857 (GRCm39) |
Y1463F |
possibly damaging |
Het |
| Rtn4ip1 |
A |
G |
10: 43,797,430 (GRCm39) |
Q223R |
probably null |
Het |
| Rtp4 |
G |
T |
16: 23,431,679 (GRCm39) |
M70I |
probably benign |
Het |
| Sag |
C |
A |
1: 87,762,340 (GRCm39) |
T335K |
probably damaging |
Het |
| Sgo1 |
C |
T |
17: 53,986,691 (GRCm39) |
D167N |
probably damaging |
Het |
| Slco1a8 |
T |
C |
6: 141,936,147 (GRCm39) |
T313A |
probably benign |
Het |
| St6gal1 |
G |
T |
16: 23,139,891 (GRCm39) |
A21S |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,530,300 (GRCm39) |
L2186I |
probably damaging |
Het |
| Sun2 |
T |
A |
15: 79,611,810 (GRCm39) |
|
probably benign |
Het |
| Taf4 |
G |
A |
2: 179,565,884 (GRCm39) |
T849M |
probably damaging |
Het |
| Taok2 |
G |
A |
7: 126,465,583 (GRCm39) |
H404Y |
possibly damaging |
Het |
| Tdrd7 |
A |
G |
4: 45,987,582 (GRCm39) |
I72V |
probably damaging |
Het |
| Trav1 |
T |
A |
14: 52,666,155 (GRCm39) |
S52T |
probably damaging |
Het |
| Trim30a |
C |
T |
7: 104,078,559 (GRCm39) |
|
probably null |
Het |
| Tro |
T |
C |
X: 149,437,565 (GRCm39) |
N364S |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,469,534 (GRCm39) |
T508A |
probably damaging |
Het |
| Ttc21b |
A |
G |
2: 66,053,908 (GRCm39) |
L757P |
probably damaging |
Het |
| Vmn1r218 |
C |
T |
13: 23,321,225 (GRCm39) |
Q111* |
probably null |
Het |
| Vmn2r75 |
G |
A |
7: 85,797,309 (GRCm39) |
Q835* |
probably null |
Het |
| Xcr1 |
T |
A |
9: 123,684,940 (GRCm39) |
D274V |
possibly damaging |
Het |
| Ypel5 |
C |
T |
17: 73,153,332 (GRCm39) |
T12I |
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 |
|
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 |
2013-01-08 |
Incidental Mutation