Incidental Mutation 'IGL03017:Sncaip'
| ID |
407930 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sncaip
|
| Ensembl Gene |
ENSMUSG00000024534 |
| Gene Name |
synuclein, alpha interacting protein (synphilin) |
| Synonyms |
synphilin-1, SYPH1, 4933427B05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
IGL03017
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
52900872-53049007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53028009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 466
(H466L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025413]
[ENSMUST00000115410]
[ENSMUST00000163742]
[ENSMUST00000177861]
[ENSMUST00000178011]
[ENSMUST00000178678]
[ENSMUST00000178883]
[ENSMUST00000179689]
[ENSMUST00000179625]
[ENSMUST00000180259]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025413
AA Change: H466L
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000025413
Gene: ENSMUSG00000024534
AA Change: H466L
| 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 |
possibly damaging
Transcript: ENSMUST00000115410
AA Change: H466L
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111069
Gene: ENSMUSG00000024534
AA Change: H466L
| 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 |
possibly damaging
Transcript: ENSMUST00000163742
AA Change: H466L
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127189
Gene: ENSMUSG00000024534
AA Change: H466L
| 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 |
possibly damaging
Transcript: ENSMUST00000178011
AA Change: H466L
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000137549
Gene: ENSMUSG00000024534
AA Change: H466L
| 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 |
possibly damaging
Transcript: ENSMUST00000178678
AA Change: H466L
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137367
Gene: ENSMUSG00000024534
AA Change: H466L
| 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: ENSMUST00000179689
AA Change: H54L
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000137107
Gene: ENSMUSG00000024534
AA Change: H54L
| 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: ENSMUST00000179625
AA Change: H406L
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000136838
Gene: ENSMUSG00000024534
AA Change: H406L
| 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: 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef11 |
C |
A |
3: 87,624,367 (GRCm39) |
Y519* |
probably null |
Het |
| Arhgef26 |
T |
A |
3: 62,355,702 (GRCm39) |
M758K |
possibly damaging |
Het |
| Ccdc187 |
T |
C |
2: 26,170,978 (GRCm39) |
Y500C |
probably benign |
Het |
| Cul5 |
A |
T |
9: 53,555,785 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
C |
15: 28,340,471 (GRCm39) |
I2293L |
possibly damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Gpr45 |
C |
T |
1: 43,071,516 (GRCm39) |
T53M |
possibly damaging |
Het |
| Hoxd3 |
T |
A |
2: 74,577,050 (GRCm39) |
M310K |
possibly damaging |
Het |
| Mtr |
A |
G |
13: 12,262,777 (GRCm39) |
|
probably null |
Het |
| Mup4 |
T |
A |
4: 59,957,890 (GRCm39) |
N171I |
probably damaging |
Het |
| Myo15b |
T |
A |
11: 115,778,743 (GRCm39) |
I1157N |
possibly damaging |
Het |
| Myo1d |
C |
T |
11: 80,492,452 (GRCm39) |
V768I |
probably benign |
Het |
| Nlrp4c |
T |
C |
7: 6,087,679 (GRCm39) |
C771R |
probably benign |
Het |
| Or1e30 |
C |
A |
11: 73,678,344 (GRCm39) |
H193Q |
probably benign |
Het |
| Patj |
G |
A |
4: 98,353,264 (GRCm39) |
|
probably benign |
Het |
| Pkp3 |
C |
A |
7: 140,663,283 (GRCm39) |
A376D |
probably benign |
Het |
| Pkp4 |
T |
C |
2: 59,096,769 (GRCm39) |
V57A |
probably benign |
Het |
| Poteg |
A |
T |
8: 27,952,069 (GRCm39) |
K232N |
probably benign |
Het |
| Psat1 |
G |
T |
19: 15,894,499 (GRCm39) |
A168E |
possibly damaging |
Het |
| Rassf8 |
T |
A |
6: 145,762,924 (GRCm39) |
|
probably null |
Het |
| Slc37a3 |
T |
A |
6: 39,326,315 (GRCm39) |
I281L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,698,646 (GRCm39) |
T30A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,617,460 (GRCm39) |
E16337G |
probably damaging |
Het |
| Usp13 |
G |
A |
3: 32,969,861 (GRCm39) |
M662I |
possibly damaging |
Het |
| Vmn2r111 |
A |
T |
17: 22,789,839 (GRCm39) |
M389K |
probably damaging |
Het |
| Vmn2r39 |
A |
C |
7: 9,017,940 (GRCm39) |
Y799D |
probably damaging |
Het |
|
| Other mutations in Sncaip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Sncaip
|
APN |
18 |
53,018,035 (GRCm39) |
splice site |
probably null |
|
|
IGL01554:Sncaip
|
APN |
18 |
53,002,006 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01802:Sncaip
|
APN |
18 |
53,002,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02658:Sncaip
|
APN |
18 |
53,028,027 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02737:Sncaip
|
APN |
18 |
53,040,128 (GRCm39) |
missense |
probably benign |
0.10 |
|
PIT4445001:Sncaip
|
UTSW |
18 |
53,002,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0218:Sncaip
|
UTSW |
18 |
53,040,400 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0325:Sncaip
|
UTSW |
18 |
53,038,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0450:Sncaip
|
UTSW |
18 |
53,001,781 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0469:Sncaip
|
UTSW |
18 |
53,001,781 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1494:Sncaip
|
UTSW |
18 |
53,001,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1897:Sncaip
|
UTSW |
18 |
53,027,862 (GRCm39) |
splice site |
probably null |
|
|
R1962:Sncaip
|
UTSW |
18 |
53,004,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2238:Sncaip
|
UTSW |
18 |
53,001,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2935:Sncaip
|
UTSW |
18 |
52,971,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4044:Sncaip
|
UTSW |
18 |
53,040,475 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4694:Sncaip
|
UTSW |
18 |
53,039,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4810:Sncaip
|
UTSW |
18 |
53,040,271 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4850:Sncaip
|
UTSW |
18 |
53,004,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4857:Sncaip
|
UTSW |
18 |
53,002,297 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4939:Sncaip
|
UTSW |
18 |
53,040,335 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5384:Sncaip
|
UTSW |
18 |
53,018,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5610:Sncaip
|
UTSW |
18 |
53,001,991 (GRCm39) |
missense |
probably benign |
|
|
R5645:Sncaip
|
UTSW |
18 |
53,028,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5797:Sncaip
|
UTSW |
18 |
53,031,276 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5977:Sncaip
|
UTSW |
18 |
53,002,393 (GRCm39) |
missense |
probably benign |
|
|
R6197:Sncaip
|
UTSW |
18 |
53,039,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6369:Sncaip
|
UTSW |
18 |
53,001,676 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6505:Sncaip
|
UTSW |
18 |
53,039,609 (GRCm39) |
nonsense |
probably null |
|
|
R6604:Sncaip
|
UTSW |
18 |
53,038,918 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6880:Sncaip
|
UTSW |
18 |
53,002,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7215:Sncaip
|
UTSW |
18 |
53,040,415 (GRCm39) |
nonsense |
probably null |
|
|
R7234:Sncaip
|
UTSW |
18 |
53,048,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8523:Sncaip
|
UTSW |
18 |
52,971,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8719:Sncaip
|
UTSW |
18 |
53,027,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8781:Sncaip
|
UTSW |
18 |
53,039,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8786:Sncaip
|
UTSW |
18 |
53,031,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8826:Sncaip
|
UTSW |
18 |
53,048,381 (GRCm39) |
missense |
probably benign |
|
|
R8985:Sncaip
|
UTSW |
18 |
53,002,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9067:Sncaip
|
UTSW |
18 |
53,039,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9187:Sncaip
|
UTSW |
18 |
53,040,011 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9632:Sncaip
|
UTSW |
18 |
53,039,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9696:Sncaip
|
UTSW |
18 |
53,038,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Sncaip
|
UTSW |
18 |
53,040,497 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Posted On |
2016-08-02 |
Incidental Mutation