Incidental Mutation 'R4402:Clstn3'
| ID |
326673 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Clstn3
|
| Ensembl Gene |
ENSMUSG00000008153 |
| Gene Name |
calsyntenin 3 |
| Synonyms |
Cst-3, CSTN3, alcadein-beta |
| MMRRC Submission |
042003-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4402 (G1)
|
| Quality Score |
195 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124407715-124441743 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 124433939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 407
(Y407C)
|
| 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: Y407C
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000008297
Gene: ENSMUSG00000008153
AA Change: Y407C
| 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: Y370C
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000108142
Gene: ENSMUSG00000008153
AA Change: Y370C
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (61/62) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
A |
11: 58,771,020 (GRCm39) |
H167Q |
probably benign |
Het |
| Adamts20 |
T |
C |
15: 94,277,827 (GRCm39) |
T212A |
probably benign |
Het |
| Ap3b1 |
C |
A |
13: 94,554,607 (GRCm39) |
L248I |
probably damaging |
Het |
| Atl1 |
T |
G |
12: 70,005,973 (GRCm39) |
D426E |
probably benign |
Het |
| Cage1 |
T |
A |
13: 38,207,078 (GRCm39) |
I256F |
probably damaging |
Het |
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Canx |
T |
C |
11: 50,195,265 (GRCm39) |
T268A |
probably benign |
Het |
| Chd7 |
A |
T |
4: 8,866,353 (GRCm39) |
M842L |
possibly damaging |
Het |
| Clca4a |
T |
C |
3: 144,658,609 (GRCm39) |
T787A |
probably benign |
Het |
| Copa |
C |
A |
1: 171,929,791 (GRCm39) |
T286N |
probably damaging |
Het |
| Cyb5a |
G |
A |
18: 84,889,718 (GRCm39) |
R49Q |
possibly damaging |
Het |
| Def6 |
A |
G |
17: 28,438,950 (GRCm39) |
K219E |
probably damaging |
Het |
| Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
| Eif5 |
A |
T |
12: 111,508,183 (GRCm39) |
K161N |
probably benign |
Het |
| Fras1 |
C |
A |
5: 96,790,479 (GRCm39) |
T951K |
probably damaging |
Het |
| Gen1 |
A |
T |
12: 11,292,363 (GRCm39) |
N475K |
possibly damaging |
Het |
| Gm14569 |
T |
C |
X: 35,697,146 (GRCm39) |
Y521C |
probably benign |
Het |
| Gm6124 |
T |
A |
7: 38,870,529 (GRCm39) |
|
noncoding transcript |
Het |
| Gpt2 |
A |
T |
8: 86,252,188 (GRCm39) |
D501V |
probably benign |
Het |
| Gstm2 |
T |
C |
3: 107,893,370 (GRCm39) |
K31R |
probably benign |
Het |
| Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
| Itga1 |
T |
A |
13: 115,138,102 (GRCm39) |
M428L |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kcnn4 |
T |
C |
7: 24,076,867 (GRCm39) |
W139R |
probably benign |
Het |
| Kdm7a |
T |
A |
6: 39,143,602 (GRCm39) |
R380W |
probably null |
Het |
| Khdrbs1 |
T |
G |
4: 129,635,889 (GRCm39) |
D22A |
possibly damaging |
Het |
| Liph |
A |
T |
16: 21,795,000 (GRCm39) |
I204N |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,529,456 (GRCm39) |
E2033G |
possibly damaging |
Het |
| M6pr |
C |
T |
6: 122,291,982 (GRCm39) |
|
probably benign |
Het |
| Mrm1 |
A |
G |
11: 84,709,915 (GRCm39) |
I95T |
probably damaging |
Het |
| Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
| Mug1 |
C |
A |
6: 121,856,311 (GRCm39) |
F1030L |
probably damaging |
Het |
| Naca |
C |
T |
10: 127,879,341 (GRCm39) |
|
probably benign |
Het |
| Nob1 |
A |
T |
8: 108,145,120 (GRCm39) |
|
probably benign |
Het |
| Nutm1 |
A |
C |
2: 112,080,154 (GRCm39) |
I587R |
probably damaging |
Het |
| Or1e26 |
A |
G |
11: 73,480,081 (GRCm39) |
V161A |
probably benign |
Het |
| Pcdhb2 |
A |
G |
18: 37,428,455 (GRCm39) |
K143E |
probably benign |
Het |
| Pcnt |
T |
C |
10: 76,228,227 (GRCm39) |
Q1646R |
probably benign |
Het |
| Piwil2 |
A |
T |
14: 70,646,365 (GRCm39) |
D390E |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,309,635 (GRCm39) |
L2771P |
probably damaging |
Het |
| Pla2g1b |
T |
A |
5: 115,608,947 (GRCm39) |
Y47* |
probably null |
Het |
| Plekhn1 |
T |
C |
4: 156,309,813 (GRCm39) |
T135A |
probably damaging |
Het |
| Pola1 |
T |
C |
X: 92,605,029 (GRCm39) |
Y968C |
probably damaging |
Het |
| Ppp1r26 |
C |
A |
2: 28,341,618 (GRCm39) |
T416K |
probably benign |
Het |
| Psmd1 |
A |
G |
1: 86,003,673 (GRCm39) |
I153V |
possibly damaging |
Het |
| Rcan2 |
A |
G |
17: 44,264,361 (GRCm39) |
D7G |
probably benign |
Het |
| Rexo5 |
T |
C |
7: 119,433,599 (GRCm39) |
I326T |
possibly damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,530,802 (GRCm39) |
|
probably benign |
Het |
| Shc1 |
T |
C |
3: 89,333,985 (GRCm39) |
S273P |
probably benign |
Het |
| Slc9b2 |
T |
C |
3: 135,042,305 (GRCm39) |
V528A |
probably benign |
Het |
| Tas2r118 |
T |
C |
6: 23,969,293 (GRCm39) |
K256R |
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tnfaip2 |
T |
C |
12: 111,416,285 (GRCm39) |
F516L |
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,039,981 (GRCm39) |
D362G |
probably damaging |
Het |
| Wwp2 |
T |
C |
8: 108,184,610 (GRCm39) |
V106A |
probably benign |
Het |
| Zfp40 |
T |
A |
17: 23,395,693 (GRCm39) |
H230L |
possibly damaging |
Het |
| Zkscan17 |
T |
A |
11: 59,393,848 (GRCm39) |
M1L |
possibly 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 |
|
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'- GTTCCATCCATCTCAGAGGC -3'
(R):5'- GGATGCAGCAGGACATTGTC -3'
Sequencing Primer
(F):5'- ACTCGTCCACCTCAGAGG -3'
(R):5'- GCAGTTGCCAAATTAGTCTTCCTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation