Incidental Mutation 'IGL00725:Synpo'
ID |
14325 |
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 # |
IGL00725
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
60727045-60793214 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 60737149 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 27
(V27I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121756
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097566]
[ENSMUST00000115318]
[ENSMUST00000123288]
[ENSMUST00000130044]
[ENSMUST00000130360]
[ENSMUST00000143275]
[ENSMUST00000155195]
|
AlphaFold |
Q8CC35 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097566
AA Change: V27I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095174 Gene: ENSMUSG00000043079 AA Change: V27I
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 |
probably damaging
Transcript: ENSMUST00000115318
AA Change: V27I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110973 Gene: ENSMUSG00000043079 AA Change: V27I
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 |
probably damaging
Transcript: ENSMUST00000130044
AA Change: V27I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121756 Gene: ENSMUSG00000043079 AA Change: V27I
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 |
probably damaging
Transcript: ENSMUST00000130360
AA Change: V266I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000115355 Gene: ENSMUSG00000043079 AA Change: V266I
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 |
probably damaging
Transcript: ENSMUST00000143275
AA Change: V266I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125272 Gene: ENSMUSG00000043079 AA Change: V266I
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 |
probably damaging
Transcript: ENSMUST00000155195
AA Change: V27I
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117897 Gene: ENSMUSG00000043079 AA Change: V27I
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp11b |
G |
T |
3: 35,881,222 (GRCm39) |
R593L |
probably damaging |
Het |
Axl |
A |
T |
7: 25,463,908 (GRCm39) |
D566E |
probably damaging |
Het |
Ccp110 |
A |
G |
7: 118,329,946 (GRCm39) |
D912G |
probably damaging |
Het |
Clca3b |
C |
T |
3: 144,544,923 (GRCm39) |
D355N |
probably benign |
Het |
Clock |
A |
C |
5: 76,402,260 (GRCm39) |
Y133* |
probably null |
Het |
Cntn4 |
T |
A |
6: 106,639,616 (GRCm39) |
V582E |
probably damaging |
Het |
Ddx1 |
A |
G |
12: 13,277,460 (GRCm39) |
|
probably benign |
Het |
Ddx1 |
A |
G |
12: 13,295,691 (GRCm39) |
L43P |
probably damaging |
Het |
Dnase2b |
G |
A |
3: 146,302,133 (GRCm39) |
T8I |
probably benign |
Het |
Ermard |
T |
C |
17: 15,208,328 (GRCm39) |
|
probably benign |
Het |
Gtf3c2 |
A |
G |
5: 31,331,752 (GRCm39) |
V22A |
probably damaging |
Het |
Ifi208 |
T |
C |
1: 173,510,427 (GRCm39) |
I194T |
possibly damaging |
Het |
Krt9 |
T |
A |
11: 100,080,832 (GRCm39) |
E340V |
probably damaging |
Het |
Nup58 |
G |
T |
14: 60,480,889 (GRCm39) |
T152K |
possibly damaging |
Het |
Otog |
A |
G |
7: 45,923,516 (GRCm39) |
S1050G |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,634,503 (GRCm39) |
N3580S |
probably benign |
Het |
Rsbn1 |
T |
C |
3: 103,836,137 (GRCm39) |
S392P |
probably damaging |
Het |
Sestd1 |
T |
C |
2: 77,018,866 (GRCm39) |
I647V |
probably benign |
Het |
Sugct |
A |
T |
13: 17,837,357 (GRCm39) |
S91R |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,344,922 (GRCm38) |
Y1227S |
possibly damaging |
Het |
Tcp11l2 |
T |
C |
10: 84,430,574 (GRCm39) |
I233T |
possibly damaging |
Het |
Vwde |
A |
G |
6: 13,187,411 (GRCm39) |
V692A |
probably benign |
Het |
|
Other mutations in Synpo |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00976:Synpo
|
APN |
18 |
60,736,491 (GRCm39) |
missense |
possibly damaging |
0.74 |
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 |
2012-12-06 |