Incidental Mutation 'RF014:Clstn3'
| ID |
603402 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF014 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124407715-124441743 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 124436225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 212
(K212*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000008297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008297]
[ENSMUST00000112523]
[ENSMUST00000150774]
|
| AlphaFold |
Q99JH7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000008297
AA Change: K212*
|
| SMART Domains |
Protein: ENSMUSP00000008297
Gene: ENSMUSG00000008153
AA Change: K212*
| 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 null
Transcript: ENSMUST00000112523
AA Change: K175*
|
| SMART Domains |
Protein: ENSMUSP00000108142
Gene: ENSMUSG00000008153
AA Change: K175*
| 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: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.6%
|
| Validation Efficiency |
98% (49/50) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,820 (GRCm39) |
|
probably benign |
Het |
| A2ml1 |
T |
C |
6: 128,547,031 (GRCm39) |
N366S |
probably damaging |
Het |
| Abca5 |
T |
C |
11: 110,170,580 (GRCm39) |
|
probably null |
Het |
| Acaca |
T |
C |
11: 84,122,550 (GRCm39) |
V323A |
probably benign |
Het |
| Agbl3 |
T |
A |
6: 34,776,293 (GRCm39) |
D266E |
possibly damaging |
Het |
| Aggf1 |
A |
T |
13: 95,507,276 (GRCm39) |
S170T |
possibly damaging |
Het |
| Amhr2 |
A |
T |
15: 102,361,589 (GRCm39) |
S467C |
probably benign |
Het |
| Begain |
GCCGCC |
GCCGCCACCGCC |
12: 108,999,348 (GRCm39) |
|
probably benign |
Het |
| Best3 |
A |
T |
10: 116,840,410 (GRCm39) |
Q280L |
probably damaging |
Het |
| Calhm1 |
CTGTGGCTGTGG |
CTGTGGCTGTGGGTGTGGCTGTGG |
19: 47,129,704 (GRCm39) |
|
probably benign |
Het |
| Ccdc186 |
A |
G |
19: 56,801,904 (GRCm39) |
L71S |
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,902,793 (GRCm39) |
|
probably null |
Het |
| Chga |
AGC |
AGCGGC |
12: 102,527,652 (GRCm39) |
|
probably benign |
Het |
| Chga |
AGC |
AGCTGC |
12: 102,527,664 (GRCm39) |
|
probably benign |
Het |
| Col16a1 |
TTTTT |
TTTTTCTTTT |
4: 129,986,860 (GRCm39) |
|
probably benign |
Het |
| Cpxm2 |
G |
T |
7: 131,672,592 (GRCm39) |
T319K |
possibly damaging |
Het |
| Cyb5r4 |
TGCCCAGGGATGTGACAGACACAC |
TGCCCAGGGATGTGACAGACACACCGCCCAGGGATGTGACAGACACAC |
9: 86,922,468 (GRCm39) |
|
probably benign |
Het |
| Dst |
T |
C |
1: 34,286,760 (GRCm39) |
S3364P |
probably benign |
Het |
| Edc4 |
C |
T |
8: 106,611,232 (GRCm39) |
T61M |
probably benign |
Het |
| Fndc5 |
A |
G |
4: 129,035,960 (GRCm39) |
H199R |
probably benign |
Het |
| Gm43302 |
T |
A |
5: 105,422,623 (GRCm39) |
I470F |
possibly damaging |
Het |
| Gne |
G |
T |
4: 44,060,045 (GRCm39) |
A147D |
probably damaging |
Het |
| Igkv12-89 |
G |
GCAACGCCAC |
6: 68,812,270 (GRCm39) |
|
probably benign |
Het |
| Irf9 |
C |
T |
14: 55,843,334 (GRCm39) |
R179* |
probably null |
Het |
| Jakmip1 |
A |
T |
5: 37,331,870 (GRCm39) |
K850M |
possibly damaging |
Het |
| Kalrn |
G |
A |
16: 33,860,303 (GRCm39) |
T1884I |
probably benign |
Het |
| Krtap28-10 |
CCACCACAGCCACAGCCACCACAGCCACAG |
CCACCACAGCCACAGACACCACAGCCACAGCCACCACAGCCACAG |
1: 83,019,972 (GRCm39) |
|
probably benign |
Het |
| Las1l |
CTCCTCCTTCTCCTCTTCCTC |
CTCCTC |
X: 94,984,263 (GRCm39) |
|
probably benign |
Het |
| Lctl |
A |
G |
9: 64,026,212 (GRCm39) |
Y89C |
probably damaging |
Het |
| Lpgat1 |
GCC |
GCCTCC |
1: 191,450,665 (GRCm39) |
|
probably benign |
Het |
| Luzp2 |
A |
T |
7: 54,821,953 (GRCm39) |
I157F |
probably damaging |
Het |
| Lyz3 |
A |
G |
10: 117,070,322 (GRCm39) |
*152Q |
probably null |
Het |
| Mamld1 |
GCA |
GCACCA |
X: 70,162,451 (GRCm39) |
|
probably benign |
Het |
| Map1a |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCAGCTCCAGCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,776 (GRCm39) |
|
probably benign |
Het |
| Mbd3l1 |
A |
T |
9: 18,396,296 (GRCm39) |
E140D |
possibly damaging |
Het |
| Mlh3 |
T |
A |
12: 85,314,803 (GRCm39) |
Q461L |
probably benign |
Het |
| Mto1 |
G |
T |
9: 78,355,598 (GRCm39) |
R7L |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,570,676 (GRCm39) |
S579C |
probably damaging |
Het |
| Ngfr |
T |
C |
11: 95,469,027 (GRCm39) |
Y117C |
probably damaging |
Het |
| Or10aa3 |
A |
T |
1: 173,878,553 (GRCm39) |
I205F |
possibly damaging |
Het |
| Or13a23-ps1 |
A |
T |
7: 140,118,690 (GRCm39) |
M87L |
probably benign |
Het |
| Or8d2b |
C |
A |
9: 38,789,196 (GRCm39) |
H241Q |
probably benign |
Het |
| Plch2 |
A |
G |
4: 155,091,577 (GRCm39) |
S179P |
probably damaging |
Het |
| Pogz |
T |
G |
3: 94,785,558 (GRCm39) |
S838A |
possibly damaging |
Het |
| Polr1has |
CACCACCACCAC |
CACCACCACCACCACCACCACGACCACCACCAC |
17: 37,275,952 (GRCm39) |
|
probably benign |
Het |
| Pot1b |
T |
A |
17: 55,981,106 (GRCm39) |
T303S |
probably benign |
Het |
| Pou2f2 |
T |
A |
7: 24,815,162 (GRCm39) |
I72L |
unknown |
Het |
| Ptpn4 |
A |
G |
1: 119,612,195 (GRCm39) |
|
probably null |
Het |
| Ptprs |
A |
T |
17: 56,723,935 (GRCm39) |
I1686N |
probably damaging |
Het |
| Rfx4 |
CTCTCT |
CTCTCTCTCTCTCTCTTTCTCT |
10: 84,694,353 (GRCm39) |
|
probably benign |
Het |
| Rnf14 |
T |
A |
18: 38,442,623 (GRCm39) |
V308E |
probably damaging |
Het |
| Setd1a |
TGGTGGTGG |
TGGTGGTGGGGGTGGTGG |
7: 127,384,518 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
C |
8: 64,384,439 (GRCm39) |
T186A |
possibly damaging |
Het |
| Six3 |
CGG |
CGGTGG |
17: 85,928,784 (GRCm39) |
|
probably benign |
Het |
| Six4 |
TG |
T |
12: 73,150,356 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
CAGCGATCCTCCCCAGTCCCGCA |
CAGCGATCCTCCCCAGTCCCGCAGGGCGAGCGATCCTCCCCAGTCCCGCA |
5: 77,164,247 (GRCm39) |
|
probably benign |
Het |
| Stox1 |
T |
A |
10: 62,500,025 (GRCm39) |
H845L |
probably benign |
Het |
| Supt20 |
AGCAGC |
AGCAGCGGCAGC |
3: 54,635,086 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
A |
AGCTGCTGCTGCTGCT |
15: 72,673,132 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,236,408 (GRCm39) |
V506A |
possibly damaging |
Het |
| Uckl1 |
T |
C |
2: 181,211,987 (GRCm39) |
D373G |
probably benign |
Het |
| Vmn2r94 |
G |
T |
17: 18,473,549 (GRCm39) |
C492* |
probably null |
Het |
| Wdr33 |
A |
G |
18: 32,014,326 (GRCm39) |
D396G |
probably damaging |
Het |
| Ypel1 |
C |
T |
16: 16,915,282 (GRCm39) |
V109M |
probably damaging |
Het |
| Zbtb11 |
A |
T |
16: 55,800,960 (GRCm39) |
I105L |
probably damaging |
Het |
| Zbtb40 |
A |
T |
4: 136,744,617 (GRCm39) |
C268S |
probably benign |
Het |
| Zfp36l1 |
T |
A |
12: 80,156,518 (GRCm39) |
M288L |
probably benign |
Het |
| Zfp384 |
CC |
CCAAGGCCCAGGAC |
6: 125,013,429 (GRCm39) |
|
probably benign |
Het |
| Zfp87 |
A |
G |
13: 74,523,173 (GRCm39) |
F15S |
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 |
|
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 |
|
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'- TCCATGCTCATCAGACATGAC -3'
(R):5'- GCCAAGTATACTCATGCCTTCC -3'
Sequencing Primer
(F):5'- GTCTGAAGACAGCTACAGTGTACTC -3'
(R):5'- CTTTCACAGGGGTCACATATCAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation