Incidental Mutation 'R9067:Sncaip'
| ID |
689337 |
| Institutional Source |
Beutler Lab
|
| 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: 0.193)
|
| Stock # |
R9067 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
52900872-53049007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 53039973 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 722
(K722N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025413
(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 damaging
Transcript: ENSMUST00000025413
AA Change: K722N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025413
Gene: ENSMUSG00000024534
AA Change: K722N
| 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 damaging
Transcript: ENSMUST00000115410
AA Change: K722N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111069
Gene: ENSMUSG00000024534
AA Change: K722N
| 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 damaging
Transcript: ENSMUST00000163742
AA Change: K722N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127189
Gene: ENSMUSG00000024534
AA Change: K722N
| 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 damaging
Transcript: ENSMUST00000178011
AA Change: K722N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137549
Gene: ENSMUSG00000024534
AA Change: K722N
| 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 damaging
Transcript: ENSMUST00000178678
AA Change: K722N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137367
Gene: ENSMUSG00000024534
AA Change: K722N
| 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 |
probably damaging
Transcript: ENSMUST00000179625
AA Change: K662N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136838
Gene: ENSMUSG00000024534
AA Change: K662N
| 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 damaging
Transcript: ENSMUST00000179689
AA Change: K310N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137107
Gene: ENSMUSG00000024534
AA Change: K310N
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
T |
G |
2: 19,522,493 (GRCm39) |
D202A |
probably damaging |
Het |
| Aass |
T |
A |
6: 23,077,123 (GRCm39) |
R745S |
probably benign |
Het |
| Adamts14 |
C |
T |
10: 61,085,439 (GRCm39) |
R195H |
possibly damaging |
Het |
| Afm |
T |
C |
5: 90,671,674 (GRCm39) |
F119L |
probably benign |
Het |
| Alox5ap |
T |
A |
5: 149,222,190 (GRCm39) |
V93E |
probably damaging |
Het |
| Ascl3 |
G |
A |
7: 109,327,104 (GRCm39) |
P72S |
probably benign |
Het |
| Cacnb1 |
C |
A |
11: 97,896,131 (GRCm39) |
D386Y |
probably damaging |
Het |
| Ccdc121rt3 |
T |
G |
5: 112,502,706 (GRCm39) |
I333L |
possibly damaging |
Het |
| Cep350 |
T |
C |
1: 155,737,485 (GRCm39) |
E2786G |
probably benign |
Het |
| Chd1 |
A |
T |
17: 15,951,107 (GRCm39) |
K227N |
possibly damaging |
Het |
| Cyp4f13 |
C |
G |
17: 33,143,801 (GRCm39) |
E508Q |
probably damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,116,186 (GRCm39) |
L843Q |
probably damaging |
Het |
| Elk4 |
T |
G |
1: 131,942,143 (GRCm39) |
I5S |
possibly damaging |
Het |
| Erc1 |
A |
T |
6: 119,774,036 (GRCm39) |
D306E |
possibly damaging |
Het |
| Fars2 |
G |
A |
13: 36,388,846 (GRCm39) |
V112I |
probably benign |
Het |
| Gdf2 |
A |
T |
14: 33,663,411 (GRCm39) |
T102S |
probably benign |
Het |
| Glb1 |
A |
G |
9: 114,302,922 (GRCm39) |
N586S |
probably damaging |
Het |
| Gm45861 |
T |
A |
8: 27,995,043 (GRCm39) |
S472T |
unknown |
Het |
| Gm5800 |
G |
A |
14: 51,951,995 (GRCm39) |
A89V |
possibly damaging |
Het |
| Gpalpp1 |
A |
G |
14: 76,344,792 (GRCm39) |
S64P |
probably damaging |
Het |
| Hbq1a |
T |
C |
11: 32,250,400 (GRCm39) |
V63A |
probably damaging |
Het |
| Htr7 |
A |
G |
19: 36,034,490 (GRCm39) |
V55A |
probably benign |
Het |
| Ica1 |
T |
A |
6: 8,667,362 (GRCm39) |
D268V |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,678,730 (GRCm39) |
E956G |
probably damaging |
Het |
| Itprid2 |
G |
A |
2: 79,475,180 (GRCm39) |
E380K |
probably benign |
Het |
| Jarid2 |
G |
T |
13: 44,994,326 (GRCm39) |
V13L |
|
Het |
| Kdr |
T |
C |
5: 76,109,428 (GRCm39) |
D983G |
probably damaging |
Het |
| Klhl23 |
C |
G |
2: 69,664,083 (GRCm39) |
I477M |
possibly damaging |
Het |
| Kpna2 |
G |
T |
11: 106,882,039 (GRCm39) |
H262Q |
possibly damaging |
Het |
| Lcor |
C |
T |
19: 41,573,698 (GRCm39) |
R818W |
probably damaging |
Het |
| Lrrc17 |
G |
A |
5: 21,766,033 (GRCm39) |
E172K |
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,606,649 (GRCm39) |
I184F |
possibly damaging |
Het |
| Med11 |
A |
G |
11: 70,342,910 (GRCm39) |
T36A |
probably benign |
Het |
| Mtf2 |
A |
G |
5: 108,252,133 (GRCm39) |
D423G |
probably benign |
Het |
| Ndfip2 |
A |
G |
14: 105,525,157 (GRCm39) |
D146G |
probably benign |
Het |
| Nfat5 |
A |
G |
8: 108,094,536 (GRCm39) |
I926V |
probably benign |
Het |
| Paqr6 |
T |
A |
3: 88,273,328 (GRCm39) |
S107T |
probably damaging |
Het |
| Pdgfrb |
G |
A |
18: 61,201,291 (GRCm39) |
S459N |
probably null |
Het |
| Pld5 |
T |
A |
1: 175,917,474 (GRCm39) |
H153L |
probably benign |
Het |
| Pmfbp1 |
A |
G |
8: 110,263,244 (GRCm39) |
R788G |
possibly damaging |
Het |
| Smok2a |
A |
C |
17: 13,445,825 (GRCm39) |
R467S |
probably damaging |
Het |
| Sycp2 |
A |
G |
2: 177,989,214 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
A |
12: 75,950,994 (GRCm39) |
W382R |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,561,407 (GRCm39) |
V1324A |
probably damaging |
Het |
| Tmem120b |
A |
T |
5: 123,236,307 (GRCm39) |
I47F |
probably damaging |
Het |
| Tubg2 |
G |
A |
11: 101,049,957 (GRCm39) |
C201Y |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,192,677 (GRCm39) |
E268G |
probably damaging |
Het |
| Zfyve26 |
T |
G |
12: 79,318,915 (GRCm39) |
D1141A |
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 |
|
IGL03017:Sncaip
|
APN |
18 |
53,028,009 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAAGCTAGCCAGACTGAG -3'
(R):5'- AGACTTGAGGGCACTCTTGG -3'
Sequencing Primer
(F):5'- CCAGACTGAGGCAGCTGATG -3'
(R):5'- AACTTTCTGGGCAGCGGTAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation