Incidental Mutation 'IGL01808:Synpo'
| ID |
155734 |
| 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 # |
IGL01808
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
60727045-60793214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60735280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 650
(I650V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097566]
[ENSMUST00000115318]
[ENSMUST00000123288]
[ENSMUST00000130044]
[ENSMUST00000130360]
[ENSMUST00000143275]
[ENSMUST00000155195]
|
| AlphaFold |
Q8CC35 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097566
AA Change: I650V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000095174
Gene: ENSMUSG00000043079
AA Change: I650V
| 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 benign
Transcript: ENSMUST00000115318
AA Change: I650V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000110973
Gene: ENSMUSG00000043079
AA Change: I650V
| 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 benign
Transcript: ENSMUST00000130044
AA Change: I650V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000121756
Gene: ENSMUSG00000043079
AA Change: I650V
| 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 benign
Transcript: ENSMUST00000130360
|
| SMART Domains |
Protein: ENSMUSP00000115355
Gene: ENSMUSG00000043079
| 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 benign
Transcript: ENSMUST00000143275
AA Change: I889V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000125272
Gene: ENSMUSG00000043079
AA Change: I889V
| 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 benign
Transcript: ENSMUST00000155195
AA Change: I650V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000117897
Gene: ENSMUSG00000043079
AA Change: I650V
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ager |
A |
T |
17: 34,818,431 (GRCm39) |
Q266L |
probably damaging |
Het |
| Amz1 |
A |
G |
5: 140,727,034 (GRCm39) |
|
probably benign |
Het |
| Ebf2 |
C |
T |
14: 67,651,932 (GRCm39) |
A488V |
probably benign |
Het |
| Gm5885 |
A |
T |
6: 133,508,181 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
T |
C |
2: 174,140,490 (GRCm39) |
S220P |
probably damaging |
Het |
| Gpr171 |
G |
A |
3: 59,005,572 (GRCm39) |
P68S |
probably damaging |
Het |
| H2ax |
T |
C |
9: 44,246,246 (GRCm39) |
I63T |
possibly damaging |
Het |
| H2-M9 |
A |
T |
17: 36,952,711 (GRCm39) |
|
probably null |
Het |
| Igsf9 |
T |
C |
1: 172,312,370 (GRCm39) |
V27A |
probably benign |
Het |
| Kcnh6 |
G |
T |
11: 105,914,753 (GRCm39) |
|
probably benign |
Het |
| Mapkbp1 |
A |
G |
2: 119,853,650 (GRCm39) |
|
probably null |
Het |
| Mllt6 |
C |
A |
11: 97,563,310 (GRCm39) |
H298N |
possibly damaging |
Het |
| Mtmr3 |
A |
G |
11: 4,447,404 (GRCm39) |
I352T |
probably damaging |
Het |
| Mtrr |
T |
C |
13: 68,714,212 (GRCm39) |
D509G |
probably benign |
Het |
| Ncan |
C |
T |
8: 70,560,090 (GRCm39) |
|
probably null |
Het |
| Or51aa2 |
T |
A |
7: 103,187,781 (GRCm39) |
Y220F |
probably damaging |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,067 (GRCm39) |
V459A |
probably damaging |
Het |
| Phrf1 |
C |
A |
7: 140,840,879 (GRCm39) |
P1274Q |
probably damaging |
Het |
| Slc4a2 |
T |
C |
5: 24,645,205 (GRCm39) |
L1125P |
probably damaging |
Het |
| Tsc1 |
G |
A |
2: 28,552,519 (GRCm39) |
R86H |
probably damaging |
Het |
| Ugt2a3 |
A |
G |
5: 87,473,414 (GRCm39) |
V501A |
probably benign |
Het |
| Vmn1r203 |
T |
C |
13: 22,708,717 (GRCm39) |
I166T |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,687,650 (GRCm39) |
C933R |
probably damaging |
Het |
| Zfp142 |
A |
T |
1: 74,615,184 (GRCm39) |
F342Y |
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 |
|
IGL00976:Synpo
|
APN |
18 |
60,736,491 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
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 |
2014-02-04 |
Incidental Mutation