Incidental Mutation 'IGL02658:Sncaip'
| ID |
302454 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sncaip
|
| Ensembl Gene |
ENSMUSG00000024534 |
| Gene Name |
synuclein, alpha interacting protein (synphilin) |
| Synonyms |
synphilin-1, 4933427B05Rik, SYPH1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
IGL02658
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
52767709-52915935 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52894955 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 412
(I412T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136838
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025413]
[ENSMUST00000115410]
[ENSMUST00000163742]
[ENSMUST00000177861]
[ENSMUST00000178011]
[ENSMUST00000178678]
[ENSMUST00000178883]
[ENSMUST00000179625]
[ENSMUST00000179689]
[ENSMUST00000180259]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025413
AA Change: I472T
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000025413
Gene: ENSMUSG00000024534
AA Change: I472T
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
348 |
378 |
2.07e-2 |
SMART |
|
ANK
|
383 |
412 |
1.04e2 |
SMART |
|
ANK
|
418 |
447 |
5.03e2 |
SMART |
|
ANK
|
455 |
484 |
4.26e-4 |
SMART |
|
PDB:2KES|A
|
511 |
549 |
1e-9 |
PDB |
|
low complexity region
|
550 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
656 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
869 |
875 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115410
AA Change: I472T
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000111069
Gene: ENSMUSG00000024534
AA Change: I472T
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
348 |
378 |
2.07e-2 |
SMART |
|
ANK
|
383 |
412 |
1.04e2 |
SMART |
|
ANK
|
418 |
447 |
5.03e2 |
SMART |
|
ANK
|
455 |
484 |
4.26e-4 |
SMART |
|
PDB:2KES|A
|
511 |
549 |
1e-9 |
PDB |
|
low complexity region
|
550 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
656 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
869 |
875 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163742
AA Change: I472T
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000127189
Gene: ENSMUSG00000024534
AA Change: I472T
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
348 |
378 |
2.07e-2 |
SMART |
|
ANK
|
383 |
412 |
1.04e2 |
SMART |
|
ANK
|
418 |
447 |
5.03e2 |
SMART |
|
ANK
|
455 |
484 |
4.26e-4 |
SMART |
|
PDB:2KES|A
|
511 |
549 |
1e-9 |
PDB |
|
low complexity region
|
550 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
656 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
869 |
875 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177861
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178011
AA Change: I472T
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000137549
Gene: ENSMUSG00000024534
AA Change: I472T
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
348 |
378 |
2.07e-2 |
SMART |
|
ANK
|
383 |
412 |
1.04e2 |
SMART |
|
ANK
|
418 |
447 |
5.03e2 |
SMART |
|
ANK
|
455 |
484 |
4.26e-4 |
SMART |
|
PDB:2KES|A
|
511 |
549 |
1e-9 |
PDB |
|
low complexity region
|
550 |
571 |
N/A |
INTRINSIC |
|
low complexity region
|
656 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
869 |
875 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178678
AA Change: I472T
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000137367
Gene: ENSMUSG00000024534
AA Change: I472T
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
348 |
378 |
2.07e-2 |
SMART |
|
ANK
|
383 |
412 |
1.04e2 |
SMART |
|
ANK
|
418 |
447 |
5.03e2 |
SMART |
|
ANK
|
455 |
484 |
4.26e-4 |
SMART |
|
Pfam:SNCAIP_SNCA_bd
|
511 |
556 |
7.9e-30 |
PFAM |
|
low complexity region
|
656 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
745 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
792 |
803 |
N/A |
INTRINSIC |
|
low complexity region
|
869 |
875 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178883
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179625
AA Change: I412T
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136838
Gene: ENSMUSG00000024534
AA Change: I412T
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
358 |
387 |
5.03e2 |
SMART |
|
ANK
|
395 |
424 |
4.26e-4 |
SMART |
|
PDB:2KES|A
|
451 |
489 |
9e-10 |
PDB |
|
low complexity region
|
490 |
511 |
N/A |
INTRINSIC |
|
low complexity region
|
596 |
609 |
N/A |
INTRINSIC |
|
low complexity region
|
613 |
626 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
695 |
N/A |
INTRINSIC |
|
low complexity region
|
732 |
743 |
N/A |
INTRINSIC |
|
low complexity region
|
809 |
815 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179689
AA Change: I60T
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000137107
Gene: ENSMUSG00000024534
AA Change: I60T
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
43 |
72 |
4.26e-4 |
SMART |
|
PDB:2KES|A
|
99 |
137 |
6e-10 |
PDB |
|
low complexity region
|
138 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
274 |
N/A |
INTRINSIC |
|
low complexity region
|
333 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
391 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
463 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180259
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,952,560 (GRCm38) |
Y946F |
probably benign |
Het |
| Abcb4 |
T |
G |
5: 8,934,240 (GRCm38) |
W657G |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,138,279 (GRCm38) |
|
probably benign |
Het |
| Arap3 |
A |
G |
18: 37,990,994 (GRCm38) |
V351A |
probably benign |
Het |
| Bpifb9b |
A |
C |
2: 154,311,281 (GRCm38) |
Y89S |
probably benign |
Het |
| Carns1 |
C |
T |
19: 4,173,084 (GRCm38) |
C47Y |
probably benign |
Het |
| Chd5 |
C |
T |
4: 152,360,593 (GRCm38) |
H344Y |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 76,980,824 (GRCm38) |
T481A |
probably benign |
Het |
| Cyth1 |
T |
A |
11: 118,182,246 (GRCm38) |
D264V |
probably damaging |
Het |
| Dph1 |
C |
A |
11: 75,180,635 (GRCm38) |
L311F |
probably benign |
Het |
| Eif3l |
A |
G |
15: 79,076,942 (GRCm38) |
D65G |
probably damaging |
Het |
| Gtf2a1l |
T |
A |
17: 88,668,718 (GRCm38) |
F3Y |
probably benign |
Het |
| Hcn4 |
A |
T |
9: 58,859,465 (GRCm38) |
T770S |
unknown |
Het |
| Hydin |
A |
T |
8: 110,413,276 (GRCm38) |
I726F |
possibly damaging |
Het |
| Klf2 |
A |
G |
8: 72,319,096 (GRCm38) |
I7V |
probably benign |
Het |
| Ltn1 |
A |
T |
16: 87,415,774 (GRCm38) |
L633H |
probably damaging |
Het |
| Ncoa3 |
A |
G |
2: 166,051,393 (GRCm38) |
D206G |
probably benign |
Het |
| Nlrp4a |
T |
G |
7: 26,449,713 (GRCm38) |
D248E |
probably benign |
Het |
| Nyap1 |
A |
G |
5: 137,735,484 (GRCm38) |
I429T |
probably damaging |
Het |
| Olfr1370 |
G |
A |
13: 21,072,812 (GRCm38) |
T163I |
probably damaging |
Het |
| Olfr285 |
A |
G |
15: 98,313,356 (GRCm38) |
S65P |
probably damaging |
Het |
| Olfr338 |
T |
A |
2: 36,377,060 (GRCm38) |
C95S |
probably damaging |
Het |
| Olfr578 |
A |
G |
7: 102,984,330 (GRCm38) |
M278T |
probably benign |
Het |
| Olfr720 |
T |
A |
14: 14,175,732 (GRCm38) |
M117L |
possibly damaging |
Het |
| Pcf11 |
T |
C |
7: 92,647,046 (GRCm38) |
E1322G |
probably damaging |
Het |
| Plcxd2 |
A |
T |
16: 45,972,326 (GRCm38) |
F217I |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,185,411 (GRCm38) |
I1389N |
probably damaging |
Het |
| Ppp1r15a |
T |
C |
7: 45,524,667 (GRCm38) |
Y239C |
probably benign |
Het |
| Psma6 |
A |
G |
12: 55,412,211 (GRCm38) |
E126G |
probably benign |
Het |
| R3hcc1l |
T |
A |
19: 42,562,702 (GRCm38) |
V46E |
probably damaging |
Het |
| Rap1gds1 |
G |
T |
3: 138,957,479 (GRCm38) |
H320N |
probably damaging |
Het |
| Sdhaf3 |
A |
G |
6: 7,038,992 (GRCm38) |
M105V |
probably damaging |
Het |
| Slc22a26 |
T |
A |
19: 7,788,248 (GRCm38) |
N345I |
probably benign |
Het |
| Sorcs1 |
A |
T |
19: 50,190,092 (GRCm38) |
I864N |
probably damaging |
Het |
| Spag5 |
C |
T |
11: 78,321,331 (GRCm38) |
Q1062* |
probably null |
Het |
| Srrm1 |
G |
A |
4: 135,325,104 (GRCm38) |
P658L |
unknown |
Het |
| Szrd1 |
A |
G |
4: 141,139,746 (GRCm38) |
|
probably benign |
Het |
| Tns2 |
C |
A |
15: 102,107,796 (GRCm38) |
|
probably benign |
Het |
| Trcg1 |
C |
A |
9: 57,242,228 (GRCm38) |
S361* |
probably null |
Het |
| Tshz3 |
T |
C |
7: 36,769,158 (GRCm38) |
F191L |
probably damaging |
Het |
| Ttc39a |
T |
C |
4: 109,422,893 (GRCm38) |
V124A |
probably damaging |
Het |
| Ttf1 |
T |
C |
2: 29,074,011 (GRCm38) |
I633T |
probably damaging |
Het |
| Zfp691 |
A |
G |
4: 119,170,507 (GRCm38) |
F176S |
probably damaging |
Het |
|
| Other mutations in Sncaip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Sncaip
|
APN |
18 |
52,884,963 (GRCm38) |
splice site |
probably null |
|
|
IGL01554:Sncaip
|
APN |
18 |
52,868,934 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01802:Sncaip
|
APN |
18 |
52,869,037 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02737:Sncaip
|
APN |
18 |
52,907,056 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL03017:Sncaip
|
APN |
18 |
52,894,937 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
PIT4445001:Sncaip
|
UTSW |
18 |
52,868,944 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0218:Sncaip
|
UTSW |
18 |
52,907,328 (GRCm38) |
missense |
probably benign |
0.18 |
|
R0325:Sncaip
|
UTSW |
18 |
52,905,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0450:Sncaip
|
UTSW |
18 |
52,868,709 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0469:Sncaip
|
UTSW |
18 |
52,868,709 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1494:Sncaip
|
UTSW |
18 |
52,868,886 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1897:Sncaip
|
UTSW |
18 |
52,894,790 (GRCm38) |
splice site |
probably null |
|
|
R1962:Sncaip
|
UTSW |
18 |
52,871,362 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2238:Sncaip
|
UTSW |
18 |
52,868,547 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2935:Sncaip
|
UTSW |
18 |
52,838,032 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4044:Sncaip
|
UTSW |
18 |
52,907,403 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4694:Sncaip
|
UTSW |
18 |
52,906,557 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4810:Sncaip
|
UTSW |
18 |
52,907,199 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4850:Sncaip
|
UTSW |
18 |
52,871,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4857:Sncaip
|
UTSW |
18 |
52,869,225 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4939:Sncaip
|
UTSW |
18 |
52,907,263 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R5384:Sncaip
|
UTSW |
18 |
52,885,041 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5610:Sncaip
|
UTSW |
18 |
52,868,919 (GRCm38) |
missense |
probably benign |
|
|
R5645:Sncaip
|
UTSW |
18 |
52,894,956 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5797:Sncaip
|
UTSW |
18 |
52,898,204 (GRCm38) |
missense |
probably benign |
0.28 |
|
R5977:Sncaip
|
UTSW |
18 |
52,869,321 (GRCm38) |
missense |
probably benign |
|
|
R6197:Sncaip
|
UTSW |
18 |
52,906,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6369:Sncaip
|
UTSW |
18 |
52,868,604 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6505:Sncaip
|
UTSW |
18 |
52,906,537 (GRCm38) |
nonsense |
probably null |
|
|
R6604:Sncaip
|
UTSW |
18 |
52,905,846 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R6880:Sncaip
|
UTSW |
18 |
52,869,064 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7215:Sncaip
|
UTSW |
18 |
52,907,343 (GRCm38) |
nonsense |
probably null |
|
|
R7234:Sncaip
|
UTSW |
18 |
52,915,344 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8523:Sncaip
|
UTSW |
18 |
52,838,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8719:Sncaip
|
UTSW |
18 |
52,894,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8781:Sncaip
|
UTSW |
18 |
52,906,542 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8786:Sncaip
|
UTSW |
18 |
52,898,262 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8826:Sncaip
|
UTSW |
18 |
52,915,309 (GRCm38) |
missense |
probably benign |
|
|
R8985:Sncaip
|
UTSW |
18 |
52,869,097 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9067:Sncaip
|
UTSW |
18 |
52,906,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9187:Sncaip
|
UTSW |
18 |
52,906,939 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9632:Sncaip
|
UTSW |
18 |
52,906,654 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9696:Sncaip
|
UTSW |
18 |
52,905,843 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Sncaip
|
UTSW |
18 |
52,907,425 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
| Posted On |
2015-04-16 |
Incidental Mutation