Incidental Mutation 'R7939:Clstn3'
| ID |
648935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clstn3
|
| Ensembl Gene |
ENSMUSG00000008153 |
| Gene Name |
calsyntenin 3 |
| Synonyms |
Cst-3, CSTN3, alcadein-beta |
| MMRRC Submission |
045985-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7939 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124407715-124441743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124439158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 33
(Y33C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008297]
[ENSMUST00000112523]
[ENSMUST00000150774]
|
| AlphaFold |
Q99JH7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008297
AA Change: Y33C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000008297
Gene: ENSMUSG00000008153
AA Change: Y33C
| 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 |
probably benign
Transcript: ENSMUST00000150774
|
| SMART Domains |
Protein: ENSMUSP00000145422
Gene: ENSMUSG00000008153
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
13 |
64 |
4e-31 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
G |
8: 87,275,433 (GRCm39) |
I415T |
probably damaging |
Het |
| Ackr3 |
A |
G |
1: 90,142,287 (GRCm39) |
S249G |
probably benign |
Het |
| Adgre1 |
G |
T |
17: 57,756,938 (GRCm39) |
A732S |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,991,448 (GRCm39) |
L4244* |
probably null |
Het |
| Aldh3a2 |
C |
A |
11: 61,115,424 (GRCm39) |
C511F |
probably benign |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,617,812 (GRCm39) |
H2013Q |
probably damaging |
Het |
| Atp5mc3 |
A |
G |
2: 73,740,206 (GRCm39) |
|
probably null |
Het |
| Calcoco2 |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,808 (GRCm39) |
|
probably benign |
Het |
| Chtf18 |
A |
T |
17: 25,941,111 (GRCm39) |
I629N |
probably damaging |
Het |
| Cmc2 |
T |
C |
8: 117,616,513 (GRCm39) |
R71G |
unknown |
Het |
| Cts7 |
A |
T |
13: 61,504,364 (GRCm39) |
N66K |
probably damaging |
Het |
| Cysltr2 |
C |
T |
14: 73,267,399 (GRCm39) |
V104I |
possibly damaging |
Het |
| Dnai4 |
G |
A |
4: 102,953,798 (GRCm39) |
Q134* |
probably null |
Het |
| Dnm3 |
C |
T |
1: 162,123,165 (GRCm39) |
V460I |
possibly damaging |
Het |
| Ecel1 |
C |
T |
1: 87,077,256 (GRCm39) |
V651I |
probably benign |
Het |
| Ext2 |
G |
A |
2: 93,560,601 (GRCm39) |
R522C |
probably damaging |
Het |
| Farp2 |
T |
C |
1: 93,487,983 (GRCm39) |
L70P |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,393,093 (GRCm39) |
Y510H |
probably damaging |
Het |
| Gm15446 |
T |
C |
5: 110,090,360 (GRCm39) |
V204A |
probably benign |
Het |
| Gm29394 |
T |
C |
15: 57,912,046 (GRCm39) |
K53E |
unknown |
Het |
| Gm39115 |
T |
C |
7: 141,689,768 (GRCm39) |
T2A |
unknown |
Het |
| Helz2 |
A |
G |
2: 180,879,543 (GRCm39) |
W692R |
probably damaging |
Het |
| Htra2 |
A |
T |
6: 83,028,545 (GRCm39) |
Y428N |
probably damaging |
Het |
| Khdrbs2 |
T |
A |
1: 32,212,056 (GRCm39) |
S20T |
probably benign |
Het |
| Kifap3 |
C |
A |
1: 163,643,427 (GRCm39) |
Y217* |
probably null |
Het |
| Mast2 |
A |
T |
4: 116,287,668 (GRCm39) |
S136T |
probably benign |
Het |
| Mesp1 |
C |
T |
7: 79,442,734 (GRCm39) |
W181* |
probably null |
Het |
| Mtch1 |
A |
C |
17: 29,559,806 (GRCm39) |
S158A |
probably damaging |
Het |
| Mtmr10 |
C |
A |
7: 63,963,899 (GRCm39) |
S211R |
probably benign |
Het |
| Mtmr9 |
C |
A |
14: 63,771,973 (GRCm39) |
Q204H |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,097,182 (GRCm39) |
N43D |
|
Het |
| Myom3 |
G |
T |
4: 135,534,589 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,076,073 (GRCm39) |
D5903G |
probably damaging |
Het |
| Niban1 |
T |
G |
1: 151,581,775 (GRCm39) |
L457R |
probably damaging |
Het |
| Noxred1 |
A |
G |
12: 87,268,105 (GRCm39) |
V342A |
probably benign |
Het |
| Nsd2 |
T |
A |
5: 34,012,933 (GRCm39) |
S421R |
probably benign |
Het |
| Or10a3 |
T |
C |
7: 108,480,481 (GRCm39) |
I111V |
probably benign |
Het |
| Or5p55 |
T |
A |
7: 107,566,986 (GRCm39) |
C127* |
probably null |
Het |
| Oxa1l |
T |
C |
14: 54,604,876 (GRCm39) |
C270R |
probably benign |
Het |
| Pcdha3 |
T |
A |
18: 37,080,933 (GRCm39) |
N558K |
probably damaging |
Het |
| Pcdha7 |
T |
C |
18: 37,109,063 (GRCm39) |
V696A |
possibly damaging |
Het |
| Pigl |
T |
C |
11: 62,349,506 (GRCm39) |
L74P |
probably damaging |
Het |
| Plch2 |
G |
T |
4: 155,087,235 (GRCm39) |
R339S |
possibly damaging |
Het |
| Prdm11 |
G |
T |
2: 92,843,074 (GRCm39) |
D128E |
probably damaging |
Het |
| Ptdss1 |
A |
G |
13: 67,143,411 (GRCm39) |
T415A |
probably benign |
Het |
| Ptprj |
A |
T |
2: 90,295,009 (GRCm39) |
W400R |
probably damaging |
Het |
| Qdpr |
T |
C |
5: 45,607,407 (GRCm39) |
Y13C |
probably damaging |
Het |
| Retsat |
G |
A |
6: 72,581,919 (GRCm39) |
M355I |
probably benign |
Het |
| Slc24a1 |
T |
G |
9: 64,835,648 (GRCm39) |
E826D |
probably benign |
Het |
| Taok3 |
T |
C |
5: 117,331,902 (GRCm39) |
F40L |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,299,519 (GRCm39) |
T190A |
probably damaging |
Het |
| Tmem220 |
C |
A |
11: 66,920,850 (GRCm39) |
T85K |
probably damaging |
Het |
| Traip |
T |
C |
9: 107,833,077 (GRCm39) |
F38L |
probably benign |
Het |
| Tspan1 |
A |
T |
4: 116,024,209 (GRCm39) |
I18N |
probably damaging |
Het |
| Ttc24 |
A |
T |
3: 87,981,945 (GRCm39) |
D40E |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,542,737 (GRCm39) |
Y33416* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,576,105 (GRCm39) |
D24929E |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,487,705 (GRCm39) |
S193T |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,314,651 (GRCm39) |
W300R |
probably damaging |
Het |
| Vps13a |
C |
T |
19: 16,718,155 (GRCm39) |
V522M |
possibly damaging |
Het |
| Wdr17 |
C |
A |
8: 55,140,677 (GRCm39) |
R232L |
probably damaging |
Het |
| Wtap |
A |
T |
17: 13,200,683 (GRCm39) |
Y33* |
probably null |
Het |
| Zc3h10 |
A |
T |
10: 128,380,376 (GRCm39) |
V327E |
probably damaging |
Het |
| Zfp658 |
T |
C |
7: 43,224,301 (GRCm39) |
S859P |
possibly damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,622 (GRCm39) |
C225* |
probably null |
Het |
| Zfp980 |
A |
T |
4: 145,428,582 (GRCm39) |
H437L |
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 |
|
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 |
|
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 |
|
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'- CACCTTAGGTTCTTCAGCGC -3'
(R):5'- TACGAGAGTTGCTGGTTCCTTC -3'
Sequencing Primer
(F):5'- CTGATGCTTTCCCTGGGCTTG -3'
(R):5'- AGAGTTGCTGGTTCCTTCTGTAGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation