Incidental Mutation 'IGL00976:Synpo'
ID |
29459 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Synpo
|
Ensembl Gene |
ENSMUSG00000043079 |
Gene Name |
synaptopodin |
Synonyms |
9030217H17Rik, 9330140I15Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.238)
|
Stock # |
IGL00976
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
60727045-60793214 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 60736491 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 485
(I485T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115355
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097566]
[ENSMUST00000115318]
[ENSMUST00000123288]
[ENSMUST00000130044]
[ENSMUST00000130360]
[ENSMUST00000143275]
[ENSMUST00000155195]
|
AlphaFold |
Q8CC35 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097566
AA Change: I246T
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000095174 Gene: ENSMUSG00000043079 AA Change: I246T
Domain | Start | End | E-Value | Type |
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
low complexity region
|
328 |
341 |
N/A |
INTRINSIC |
low complexity region
|
428 |
446 |
N/A |
INTRINSIC |
low complexity region
|
571 |
600 |
N/A |
INTRINSIC |
low complexity region
|
607 |
628 |
N/A |
INTRINSIC |
low complexity region
|
714 |
741 |
N/A |
INTRINSIC |
low complexity region
|
769 |
782 |
N/A |
INTRINSIC |
low complexity region
|
786 |
811 |
N/A |
INTRINSIC |
low complexity region
|
830 |
846 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115318
AA Change: I246T
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000110973 Gene: ENSMUSG00000043079 AA Change: I246T
Domain | Start | End | E-Value | Type |
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
low complexity region
|
328 |
341 |
N/A |
INTRINSIC |
low complexity region
|
428 |
446 |
N/A |
INTRINSIC |
low complexity region
|
571 |
600 |
N/A |
INTRINSIC |
low complexity region
|
607 |
628 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123288
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128528
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130044
AA Change: I246T
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000121756 Gene: ENSMUSG00000043079 AA Change: I246T
Domain | Start | End | E-Value | Type |
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
low complexity region
|
328 |
341 |
N/A |
INTRINSIC |
low complexity region
|
428 |
446 |
N/A |
INTRINSIC |
low complexity region
|
571 |
600 |
N/A |
INTRINSIC |
low complexity region
|
607 |
628 |
N/A |
INTRINSIC |
low complexity region
|
714 |
741 |
N/A |
INTRINSIC |
low complexity region
|
769 |
782 |
N/A |
INTRINSIC |
low complexity region
|
786 |
811 |
N/A |
INTRINSIC |
low complexity region
|
830 |
846 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000130360
AA Change: I485T
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000115355 Gene: ENSMUSG00000043079 AA Change: I485T
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
43 |
N/A |
INTRINSIC |
low complexity region
|
208 |
232 |
N/A |
INTRINSIC |
low complexity region
|
317 |
329 |
N/A |
INTRINSIC |
low complexity region
|
567 |
580 |
N/A |
INTRINSIC |
low complexity region
|
667 |
685 |
N/A |
INTRINSIC |
low complexity region
|
810 |
839 |
N/A |
INTRINSIC |
low complexity region
|
846 |
867 |
N/A |
INTRINSIC |
low complexity region
|
913 |
940 |
N/A |
INTRINSIC |
low complexity region
|
968 |
981 |
N/A |
INTRINSIC |
low complexity region
|
985 |
1010 |
N/A |
INTRINSIC |
low complexity region
|
1029 |
1045 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137894
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143275
AA Change: I485T
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000125272 Gene: ENSMUSG00000043079 AA Change: I485T
Domain | Start | End | E-Value | Type |
low complexity region
|
33 |
43 |
N/A |
INTRINSIC |
low complexity region
|
208 |
232 |
N/A |
INTRINSIC |
low complexity region
|
317 |
329 |
N/A |
INTRINSIC |
low complexity region
|
567 |
580 |
N/A |
INTRINSIC |
low complexity region
|
667 |
685 |
N/A |
INTRINSIC |
low complexity region
|
810 |
839 |
N/A |
INTRINSIC |
low complexity region
|
846 |
867 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155195
AA Change: I246T
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000117897 Gene: ENSMUSG00000043079 AA Change: I246T
Domain | Start | End | E-Value | Type |
low complexity region
|
78 |
90 |
N/A |
INTRINSIC |
low complexity region
|
328 |
341 |
N/A |
INTRINSIC |
low complexity region
|
428 |
446 |
N/A |
INTRINSIC |
low complexity region
|
571 |
600 |
N/A |
INTRINSIC |
low complexity region
|
607 |
628 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160395
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synaptopodin is an actin-associated protein that may play a role in actin-based cell shape and motility. The name synaptopodin derives from the protein's associations with postsynaptic densities and dendritic spines and with renal podocytes (Mundel et al., 1997 [PubMed 9314539]).[supplied by OMIM, Mar 2008] PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in telencephalic neurons, reduced long term potentiation, and behavioral abnormalities including hypoactivity, reduced anxiety, and learning deficiencies. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519F16Rik |
A |
G |
X: 102,226,868 (GRCm39) |
|
probably benign |
Het |
Aldob |
C |
A |
4: 49,541,220 (GRCm39) |
V151L |
probably damaging |
Het |
Cacna1i |
G |
A |
15: 80,239,846 (GRCm39) |
M298I |
probably benign |
Het |
Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
Ccdc186 |
G |
A |
19: 56,785,932 (GRCm39) |
T701M |
probably damaging |
Het |
Ccdc190 |
A |
T |
1: 169,761,309 (GRCm39) |
H137L |
probably benign |
Het |
Clhc1 |
G |
A |
11: 29,511,389 (GRCm39) |
D278N |
probably benign |
Het |
Cntnap3 |
T |
C |
13: 64,942,166 (GRCm39) |
Y188C |
probably damaging |
Het |
Dnah1 |
A |
C |
14: 31,000,095 (GRCm39) |
V2466G |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 31,070,684 (GRCm39) |
T4457A |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,487,169 (GRCm39) |
Q3388R |
probably benign |
Het |
Hecw1 |
T |
A |
13: 14,493,557 (GRCm39) |
D316V |
probably damaging |
Het |
Il1rap |
T |
C |
16: 26,517,589 (GRCm39) |
V263A |
probably benign |
Het |
Il6 |
G |
A |
5: 30,219,839 (GRCm39) |
G72S |
probably benign |
Het |
Katnal2 |
T |
C |
18: 77,105,189 (GRCm39) |
Y86C |
probably damaging |
Het |
Kdm7a |
G |
T |
6: 39,121,332 (GRCm39) |
S874R |
possibly damaging |
Het |
Mybpc2 |
T |
C |
7: 44,171,741 (GRCm39) |
|
probably null |
Het |
Nphs1 |
T |
G |
7: 30,160,110 (GRCm39) |
S130A |
possibly damaging |
Het |
Ntrk3 |
C |
T |
7: 78,100,701 (GRCm39) |
V444I |
probably benign |
Het |
Numbl |
T |
C |
7: 26,968,235 (GRCm39) |
V144A |
possibly damaging |
Het |
Or8g33 |
T |
A |
9: 39,337,953 (GRCm39) |
Y138F |
probably benign |
Het |
P2rx1 |
T |
C |
11: 72,903,826 (GRCm39) |
|
probably null |
Het |
Pcdhb3 |
G |
A |
18: 37,436,001 (GRCm39) |
V656I |
probably benign |
Het |
Pole |
A |
G |
5: 110,471,438 (GRCm39) |
Y1394C |
probably benign |
Het |
Pramel24 |
T |
A |
4: 143,453,585 (GRCm39) |
M231K |
probably damaging |
Het |
Rbm47 |
A |
G |
5: 66,184,081 (GRCm39) |
V174A |
possibly damaging |
Het |
Rhox4f |
T |
C |
X: 36,786,048 (GRCm39) |
|
probably benign |
Het |
Serpina12 |
T |
C |
12: 103,998,787 (GRCm39) |
Y317C |
probably damaging |
Het |
Slc12a5 |
T |
A |
2: 164,821,224 (GRCm39) |
I236N |
probably damaging |
Het |
Slc4a4 |
G |
A |
5: 89,102,657 (GRCm39) |
G32R |
probably damaging |
Het |
Slco1a4 |
T |
C |
6: 141,752,908 (GRCm39) |
|
probably null |
Het |
Sorcs3 |
A |
T |
19: 48,755,542 (GRCm39) |
N894I |
probably damaging |
Het |
Stk38l |
A |
G |
6: 146,676,900 (GRCm39) |
E393G |
probably benign |
Het |
Tenm3 |
T |
A |
8: 48,709,876 (GRCm39) |
M1687L |
probably benign |
Het |
Ttc39c |
T |
C |
18: 12,817,952 (GRCm39) |
|
probably benign |
Het |
Unc13d |
T |
C |
11: 115,961,293 (GRCm39) |
E378G |
probably damaging |
Het |
Vmn2r118 |
T |
A |
17: 55,900,204 (GRCm39) |
N567Y |
probably damaging |
Het |
|
Other mutations in Synpo |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00725:Synpo
|
APN |
18 |
60,737,149 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01808:Synpo
|
APN |
18 |
60,735,280 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02116:Synpo
|
APN |
18 |
60,736,528 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02444:Synpo
|
APN |
18 |
60,735,502 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02838:Synpo
|
APN |
18 |
60,736,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R0420:Synpo
|
UTSW |
18 |
60,735,490 (GRCm39) |
missense |
probably damaging |
0.97 |
R0650:Synpo
|
UTSW |
18 |
60,735,412 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0790:Synpo
|
UTSW |
18 |
60,736,575 (GRCm39) |
missense |
probably damaging |
0.98 |
R1213:Synpo
|
UTSW |
18 |
60,735,525 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1695:Synpo
|
UTSW |
18 |
60,736,459 (GRCm39) |
missense |
probably benign |
0.00 |
R1763:Synpo
|
UTSW |
18 |
60,735,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R1920:Synpo
|
UTSW |
18 |
60,736,661 (GRCm39) |
missense |
probably benign |
0.00 |
R1921:Synpo
|
UTSW |
18 |
60,736,661 (GRCm39) |
missense |
probably benign |
0.00 |
R2133:Synpo
|
UTSW |
18 |
60,735,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R3757:Synpo
|
UTSW |
18 |
60,736,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R4796:Synpo
|
UTSW |
18 |
60,737,386 (GRCm39) |
missense |
probably damaging |
0.97 |
R4841:Synpo
|
UTSW |
18 |
60,736,684 (GRCm39) |
missense |
probably damaging |
0.99 |
R4842:Synpo
|
UTSW |
18 |
60,736,684 (GRCm39) |
missense |
probably damaging |
0.99 |
R4911:Synpo
|
UTSW |
18 |
60,762,936 (GRCm39) |
utr 5 prime |
probably benign |
|
R5091:Synpo
|
UTSW |
18 |
60,735,831 (GRCm39) |
nonsense |
probably null |
|
R5327:Synpo
|
UTSW |
18 |
60,736,918 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5354:Synpo
|
UTSW |
18 |
60,735,303 (GRCm39) |
critical splice donor site |
probably null |
|
R5671:Synpo
|
UTSW |
18 |
60,729,022 (GRCm39) |
missense |
probably damaging |
0.99 |
R5868:Synpo
|
UTSW |
18 |
60,737,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R6007:Synpo
|
UTSW |
18 |
60,736,687 (GRCm39) |
missense |
probably benign |
0.35 |
R7266:Synpo
|
UTSW |
18 |
60,762,631 (GRCm39) |
missense |
probably benign |
0.00 |
R7472:Synpo
|
UTSW |
18 |
60,762,895 (GRCm39) |
missense |
probably benign |
0.00 |
R7509:Synpo
|
UTSW |
18 |
60,736,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R7554:Synpo
|
UTSW |
18 |
60,736,405 (GRCm39) |
missense |
probably benign |
0.21 |
R7584:Synpo
|
UTSW |
18 |
60,729,349 (GRCm39) |
missense |
probably damaging |
0.96 |
R7615:Synpo
|
UTSW |
18 |
60,737,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R7633:Synpo
|
UTSW |
18 |
60,736,500 (GRCm39) |
missense |
probably damaging |
1.00 |
R8499:Synpo
|
UTSW |
18 |
60,736,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R8512:Synpo
|
UTSW |
18 |
60,735,483 (GRCm39) |
missense |
probably damaging |
0.99 |
R8996:Synpo
|
UTSW |
18 |
60,737,230 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9116:Synpo
|
UTSW |
18 |
60,735,599 (GRCm39) |
missense |
probably damaging |
0.98 |
R9336:Synpo
|
UTSW |
18 |
60,735,472 (GRCm39) |
missense |
probably damaging |
0.96 |
R9798:Synpo
|
UTSW |
18 |
60,736,832 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Posted On |
2013-04-17 |