Incidental Mutation 'R5977:Sncaip'
ID |
481227 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sncaip
|
Ensembl Gene |
ENSMUSG00000024534 |
Gene Name |
synuclein, alpha interacting protein (synphilin) |
Synonyms |
synphilin-1, SYPH1, 4933427B05Rik |
MMRRC Submission |
044159-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.176)
|
Stock # |
R5977 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
52900872-53049007 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 53002393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 305
(T305A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136838
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025413]
[ENSMUST00000115410]
[ENSMUST00000163742]
[ENSMUST00000177861]
[ENSMUST00000178011]
[ENSMUST00000178678]
[ENSMUST00000178883]
[ENSMUST00000179625]
[ENSMUST00000180259]
[ENSMUST00000179689]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025413
AA Change: T305A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000025413 Gene: ENSMUSG00000024534 AA Change: T305A
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: T305A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000111069 Gene: ENSMUSG00000024534 AA Change: T305A
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: T305A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127189 Gene: ENSMUSG00000024534 AA Change: T305A
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: T305A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000137549 Gene: ENSMUSG00000024534 AA Change: T305A
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: T305A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000137367 Gene: ENSMUSG00000024534 AA Change: T305A
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 benign
Transcript: ENSMUST00000179625
AA Change: T305A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000136838 Gene: ENSMUSG00000024534 AA Change: T305A
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179689
|
SMART Domains |
Protein: ENSMUSP00000137107 Gene: ENSMUSG00000024534
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
Validation Efficiency |
97% (72/74) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
A |
T |
10: 100,451,106 (GRCm39) |
R446S |
probably damaging |
Het |
2900092C05Rik |
A |
T |
7: 12,288,664 (GRCm39) |
H159L |
probably benign |
Het |
4933405O20Rik |
G |
A |
7: 50,249,838 (GRCm39) |
V291I |
probably damaging |
Het |
A2ml1 |
A |
G |
6: 128,558,085 (GRCm39) |
Y24H |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,583,678 (GRCm39) |
|
probably null |
Het |
Ankrd52 |
C |
T |
10: 128,218,566 (GRCm39) |
H351Y |
probably damaging |
Het |
Anks6 |
C |
A |
4: 47,035,748 (GRCm39) |
A588S |
probably benign |
Het |
Arl15 |
T |
G |
13: 114,070,645 (GRCm39) |
V80G |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,904,628 (GRCm39) |
I532T |
possibly damaging |
Het |
Birc6 |
T |
C |
17: 74,910,031 (GRCm39) |
C1475R |
probably damaging |
Het |
Carmil1 |
C |
T |
13: 24,253,719 (GRCm39) |
R394Q |
probably damaging |
Het |
Cbfa2t2 |
T |
C |
2: 154,359,697 (GRCm39) |
I254T |
probably damaging |
Het |
Cemip2 |
A |
G |
19: 21,803,447 (GRCm39) |
T827A |
probably benign |
Het |
Col6a3 |
A |
G |
1: 90,749,571 (GRCm39) |
V421A |
possibly damaging |
Het |
Cped1 |
T |
C |
6: 22,254,607 (GRCm39) |
V1000A |
probably damaging |
Het |
Cr1l |
A |
T |
1: 194,797,076 (GRCm39) |
Y282* |
probably null |
Het |
Cryl1 |
G |
T |
14: 57,620,236 (GRCm39) |
T43K |
probably benign |
Het |
Csmd2 |
C |
T |
4: 127,952,827 (GRCm39) |
P92L |
probably damaging |
Het |
Ddx60 |
G |
A |
8: 62,474,444 (GRCm39) |
|
probably null |
Het |
Dhrs7b |
C |
T |
11: 60,743,328 (GRCm39) |
R187* |
probably null |
Het |
Dmtf1 |
T |
C |
5: 9,190,451 (GRCm39) |
T88A |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,411,707 (GRCm39) |
E305G |
possibly damaging |
Het |
Dscaml1 |
A |
C |
9: 45,632,596 (GRCm39) |
N1154T |
probably benign |
Het |
Efhc1 |
A |
G |
1: 21,030,442 (GRCm39) |
Y125C |
probably damaging |
Het |
Egflam |
T |
A |
15: 7,347,726 (GRCm39) |
Y68F |
possibly damaging |
Het |
Gcm2 |
A |
G |
13: 41,256,603 (GRCm39) |
V382A |
probably damaging |
Het |
Gm18358 |
A |
G |
7: 84,739,756 (GRCm39) |
|
noncoding transcript |
Het |
Gm3443 |
T |
G |
19: 21,534,960 (GRCm39) |
I75S |
probably benign |
Het |
Gpr182 |
C |
A |
10: 127,586,748 (GRCm39) |
V68F |
possibly damaging |
Het |
Herc1 |
T |
A |
9: 66,340,604 (GRCm39) |
M1651K |
possibly damaging |
Het |
Hey1 |
A |
T |
3: 8,731,418 (GRCm39) |
|
probably null |
Het |
Ighv1-43 |
A |
C |
12: 114,909,829 (GRCm39) |
V31G |
probably benign |
Het |
Il17rc |
T |
C |
6: 113,459,692 (GRCm39) |
V450A |
probably damaging |
Het |
Kbtbd4 |
T |
G |
2: 90,736,487 (GRCm39) |
V166G |
probably benign |
Het |
Marveld2 |
T |
C |
13: 100,748,197 (GRCm39) |
N294S |
possibly damaging |
Het |
Mtdh |
A |
G |
15: 34,099,720 (GRCm39) |
K61E |
probably damaging |
Het |
Muc5ac |
T |
C |
7: 141,350,104 (GRCm39) |
S616P |
possibly damaging |
Het |
Myh15 |
T |
C |
16: 48,973,866 (GRCm39) |
L1292P |
probably damaging |
Het |
Nek8 |
C |
T |
11: 78,058,651 (GRCm39) |
V550M |
probably benign |
Het |
Nup155 |
T |
A |
15: 8,159,721 (GRCm39) |
|
probably null |
Het |
Or2y17 |
G |
A |
11: 49,231,592 (GRCm39) |
V78M |
probably damaging |
Het |
Or7c70 |
A |
T |
10: 78,683,572 (GRCm39) |
M59K |
possibly damaging |
Het |
Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
Papln |
G |
A |
12: 83,831,143 (GRCm39) |
W1099* |
probably null |
Het |
Pcdhb17 |
A |
G |
18: 37,618,720 (GRCm39) |
Y170C |
probably damaging |
Het |
Pramel12 |
T |
C |
4: 143,144,229 (GRCm39) |
Y192H |
probably benign |
Het |
Prss39 |
T |
G |
1: 34,541,783 (GRCm39) |
C287G |
probably damaging |
Het |
Pyroxd2 |
A |
G |
19: 42,723,911 (GRCm39) |
V338A |
probably damaging |
Het |
Rab19 |
T |
A |
6: 39,360,860 (GRCm39) |
F3I |
probably benign |
Het |
Relt |
A |
G |
7: 100,512,355 (GRCm39) |
|
probably benign |
Het |
Sbf2 |
T |
A |
7: 109,977,193 (GRCm39) |
H647L |
probably benign |
Het |
Scube1 |
C |
T |
15: 83,513,689 (GRCm39) |
C327Y |
probably damaging |
Het |
Sec14l4 |
A |
C |
11: 3,990,055 (GRCm39) |
Q118P |
possibly damaging |
Het |
Shisa9 |
C |
G |
16: 12,085,292 (GRCm39) |
D300E |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,740,580 (GRCm39) |
|
probably benign |
Het |
Sorcs3 |
T |
C |
19: 48,784,889 (GRCm39) |
V1104A |
probably damaging |
Het |
Ugt1a6b |
C |
T |
1: 88,143,982 (GRCm39) |
R201C |
probably damaging |
Het |
Unc119b |
A |
G |
5: 115,268,612 (GRCm39) |
V91A |
probably benign |
Het |
Uvssa |
A |
G |
5: 33,547,204 (GRCm39) |
K257E |
probably damaging |
Het |
Vmn1r199 |
A |
C |
13: 22,567,416 (GRCm39) |
M237L |
probably benign |
Het |
Vmn1r69 |
G |
A |
7: 10,314,417 (GRCm39) |
R26W |
probably damaging |
Het |
Vmn2r54 |
A |
G |
7: 12,366,143 (GRCm39) |
F264L |
probably damaging |
Het |
Vmn2r7 |
C |
T |
3: 64,623,464 (GRCm39) |
W285* |
probably null |
Het |
Vmn2r78 |
T |
A |
7: 86,569,541 (GRCm39) |
S145T |
possibly damaging |
Het |
Vmn2r78 |
T |
A |
7: 86,604,115 (GRCm39) |
N764K |
probably benign |
Het |
Wdr5b |
T |
G |
16: 35,862,374 (GRCm39) |
H164Q |
probably damaging |
Het |
Zcchc7 |
G |
A |
4: 44,894,982 (GRCm39) |
V236I |
possibly damaging |
Het |
Zfp729b |
G |
A |
13: 67,739,740 (GRCm39) |
R842C |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCCCTGCATATGAATCAG -3'
(R):5'- AGCCACAGGTCAAGATTTAGC -3'
Sequencing Primer
(F):5'- TGGCCCTGCATATGAATCAGAAAAC -3'
(R):5'- CAAGACACATTGTGGGAAATTCTC -3'
|
Posted On |
2017-06-26 |