Incidental Mutation 'R5050:Syn3'
| ID |
394599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syn3
|
| Ensembl Gene |
ENSMUSG00000059602 |
| Gene Name |
synapsin III |
| Synonyms |
Synapsin IIIa |
| MMRRC Submission |
042640-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5050 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
85890989-86334760 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86243532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 136
(T136A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120638]
[ENSMUST00000121789]
|
| AlphaFold |
Q8JZP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120638
AA Change: T136A
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000113720
Gene: ENSMUSG00000059602
AA Change: T136A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synapsin_N
|
1 |
32 |
8.7e-22 |
PFAM |
|
low complexity region
|
47 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
80 |
88 |
N/A |
INTRINSIC |
|
Pfam:Synapsin
|
89 |
190 |
1.8e-46 |
PFAM |
|
Pfam:Synapsin_C
|
192 |
394 |
6.8e-141 |
PFAM |
|
low complexity region
|
418 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
535 |
551 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121789
AA Change: T136A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000113408
Gene: ENSMUSG00000059602
AA Change: T136A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Synapsin_N
|
1 |
32 |
2.2e-25 |
PFAM |
|
low complexity region
|
47 |
66 |
N/A |
INTRINSIC |
|
Pfam:Synapsin
|
87 |
190 |
3.6e-63 |
PFAM |
|
Pfam:Synapsin_C
|
192 |
242 |
6.7e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139197
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145864
|
| Meta Mutation Damage Score |
0.1439 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
100% (69/69) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display altered neurotransmitter release, reduced synaptic depression, and a specific delay in early axon outgrowth in cultured hippocampal neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,989,822 (GRCm39) |
|
probably benign |
Het |
| Ap3m1 |
A |
G |
14: 21,094,843 (GRCm39) |
I108T |
probably benign |
Het |
| Apobec1 |
T |
C |
6: 122,568,061 (GRCm39) |
M1V |
probably null |
Het |
| Aqr |
A |
T |
2: 113,943,090 (GRCm39) |
L1161* |
probably null |
Het |
| Aqr |
A |
T |
2: 114,000,506 (GRCm39) |
|
probably null |
Het |
| Arhgef37 |
A |
G |
18: 61,637,402 (GRCm39) |
I420T |
probably benign |
Het |
| Cacna1g |
C |
T |
11: 94,350,541 (GRCm39) |
E435K |
probably damaging |
Het |
| Card6 |
G |
T |
15: 5,129,858 (GRCm39) |
H513N |
probably benign |
Het |
| Ccdc158 |
A |
C |
5: 92,814,738 (GRCm39) |
F29L |
probably benign |
Het |
| Ccr6 |
T |
C |
17: 8,474,936 (GRCm39) |
L47S |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,900,018 (GRCm39) |
Y444* |
probably null |
Het |
| Cdh17 |
A |
G |
4: 11,784,654 (GRCm39) |
Y270C |
probably damaging |
Het |
| Cdh9 |
T |
C |
15: 16,778,233 (GRCm39) |
F16S |
probably benign |
Het |
| Cdkl1 |
T |
C |
12: 69,804,014 (GRCm39) |
K141R |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,664,578 (GRCm39) |
I494F |
probably damaging |
Het |
| Chd4 |
T |
C |
6: 125,084,443 (GRCm39) |
Y692H |
probably damaging |
Het |
| Dhrs7 |
T |
A |
12: 72,704,184 (GRCm39) |
D104V |
probably damaging |
Het |
| Dhtkd1 |
A |
T |
2: 5,922,500 (GRCm39) |
L553Q |
probably benign |
Het |
| Dnah7a |
T |
G |
1: 53,536,255 (GRCm39) |
D2596A |
probably benign |
Het |
| Dync1li2 |
T |
C |
8: 105,164,073 (GRCm39) |
K151E |
probably damaging |
Het |
| Eno4 |
C |
T |
19: 58,943,928 (GRCm39) |
H297Y |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,019,156 (GRCm39) |
D976E |
possibly damaging |
Het |
| Fhip2a |
T |
A |
19: 57,371,602 (GRCm39) |
F571L |
probably damaging |
Het |
| Gm4553 |
C |
A |
7: 141,718,773 (GRCm39) |
K218N |
unknown |
Het |
| Gpld1 |
A |
T |
13: 25,146,739 (GRCm39) |
T234S |
probably benign |
Het |
| Gtpbp6 |
A |
T |
5: 110,252,567 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
T |
C |
19: 55,229,367 (GRCm39) |
E101G |
probably benign |
Het |
| Gvin3 |
T |
C |
7: 106,196,179 (GRCm39) |
|
noncoding transcript |
Het |
| Hira |
G |
A |
16: 18,744,609 (GRCm39) |
R442K |
possibly damaging |
Het |
| Hrh3 |
A |
G |
2: 179,742,350 (GRCm39) |
L394P |
probably damaging |
Het |
| Igkv1-110 |
T |
A |
6: 68,248,176 (GRCm39) |
F95Y |
probably damaging |
Het |
| Iqgap3 |
T |
G |
3: 87,997,493 (GRCm39) |
V223G |
probably damaging |
Het |
| Itpk1 |
T |
C |
12: 102,671,069 (GRCm39) |
T3A |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,927,074 (GRCm39) |
V895A |
possibly damaging |
Het |
| Kazn |
G |
A |
4: 141,845,514 (GRCm39) |
|
probably benign |
Het |
| Large2 |
A |
T |
2: 92,198,124 (GRCm39) |
L282Q |
probably benign |
Het |
| Lgmn |
A |
G |
12: 102,369,680 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
A |
T |
2: 91,322,767 (GRCm39) |
I1119F |
probably benign |
Het |
| Map3k19 |
T |
C |
1: 127,751,299 (GRCm39) |
H684R |
probably benign |
Het |
| Mier3 |
C |
T |
13: 111,851,107 (GRCm39) |
A367V |
possibly damaging |
Het |
| Mpdz |
A |
G |
4: 81,213,685 (GRCm39) |
V1579A |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,929,932 (GRCm39) |
D6V |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,473,670 (GRCm39) |
I1568V |
probably benign |
Het |
| Or52e8b |
T |
A |
7: 104,673,594 (GRCm39) |
I198F |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,127,766 (GRCm39) |
|
probably benign |
Het |
| Plek |
T |
C |
11: 16,945,216 (GRCm39) |
D38G |
probably damaging |
Het |
| Polr2f |
A |
G |
15: 79,028,862 (GRCm39) |
|
probably benign |
Het |
| Samsn1 |
A |
G |
16: 75,685,645 (GRCm39) |
S38P |
probably benign |
Het |
| Sf1 |
C |
T |
19: 6,422,589 (GRCm39) |
T248I |
probably damaging |
Het |
| Sgms2 |
C |
T |
3: 131,124,005 (GRCm39) |
V232M |
probably benign |
Het |
| Sharpin |
A |
T |
15: 76,232,530 (GRCm39) |
L160H |
probably damaging |
Het |
| Sympk |
C |
T |
7: 18,769,967 (GRCm39) |
R215C |
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,176,278 (GRCm39) |
V335M |
possibly damaging |
Het |
| Tedc1 |
G |
T |
12: 113,120,325 (GRCm39) |
V56L |
possibly damaging |
Het |
| Tenm4 |
T |
C |
7: 96,544,995 (GRCm39) |
L2337P |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,715,155 (GRCm39) |
|
probably benign |
Het |
| Tysnd1 |
T |
A |
10: 61,532,050 (GRCm39) |
I234N |
probably damaging |
Het |
| Vmn2r51 |
T |
C |
7: 9,834,349 (GRCm39) |
K230E |
probably damaging |
Het |
|
| Other mutations in Syn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Syn3
|
APN |
10 |
86,190,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02391:Syn3
|
APN |
10 |
85,900,770 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02598:Syn3
|
APN |
10 |
86,303,063 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03007:Syn3
|
APN |
10 |
85,900,778 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL03379:Syn3
|
APN |
10 |
85,900,736 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0234:Syn3
|
UTSW |
10 |
86,284,750 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0234:Syn3
|
UTSW |
10 |
86,284,750 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1577:Syn3
|
UTSW |
10 |
86,284,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1597:Syn3
|
UTSW |
10 |
85,970,908 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1699:Syn3
|
UTSW |
10 |
85,916,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Syn3
|
UTSW |
10 |
86,190,208 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2006:Syn3
|
UTSW |
10 |
85,909,097 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2025:Syn3
|
UTSW |
10 |
86,302,846 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4413:Syn3
|
UTSW |
10 |
85,891,456 (GRCm39) |
unclassified |
probably benign |
|
|
R4904:Syn3
|
UTSW |
10 |
86,302,950 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5286:Syn3
|
UTSW |
10 |
86,187,428 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5449:Syn3
|
UTSW |
10 |
86,187,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5507:Syn3
|
UTSW |
10 |
85,916,090 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5792:Syn3
|
UTSW |
10 |
86,130,492 (GRCm39) |
makesense |
probably null |
|
|
R6525:Syn3
|
UTSW |
10 |
86,302,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6605:Syn3
|
UTSW |
10 |
85,893,428 (GRCm39) |
missense |
unknown |
|
|
R7000:Syn3
|
UTSW |
10 |
85,916,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7619:Syn3
|
UTSW |
10 |
85,893,428 (GRCm39) |
missense |
unknown |
|
|
R7661:Syn3
|
UTSW |
10 |
85,904,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7710:Syn3
|
UTSW |
10 |
86,243,534 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7730:Syn3
|
UTSW |
10 |
86,284,773 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7798:Syn3
|
UTSW |
10 |
85,916,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7819:Syn3
|
UTSW |
10 |
85,891,404 (GRCm39) |
unclassified |
probably benign |
|
|
R7899:Syn3
|
UTSW |
10 |
85,900,793 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8248:Syn3
|
UTSW |
10 |
85,970,885 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8342:Syn3
|
UTSW |
10 |
86,302,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8494:Syn3
|
UTSW |
10 |
86,190,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9000:Syn3
|
UTSW |
10 |
85,893,489 (GRCm39) |
missense |
unknown |
|
|
X0023:Syn3
|
UTSW |
10 |
86,190,341 (GRCm39) |
missense |
probably benign |
0.35 |
|
Z1177:Syn3
|
UTSW |
10 |
85,916,073 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAAATCATTTGGCAAAAGCAGC -3'
(R):5'- TCAGAGACTCAAGGGTTTCAC -3'
Sequencing Primer
(F):5'- GTCTGCTTACCGCACAAT -3'
(R):5'- GAGACTCAAGGGTTTCACTATGATG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation