Incidental Mutation 'R5645:Sncaip'
ID |
441111 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sncaip
|
Ensembl Gene |
ENSMUSG00000024534 |
Gene Name |
synuclein, alpha interacting protein (synphilin) |
Synonyms |
synphilin-1, SYPH1, 4933427B05Rik |
MMRRC Submission |
043293-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R5645 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
52900872-53049007 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 53028028 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 412
(I412M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136838
(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 |
probably damaging
Transcript: ENSMUST00000025413
AA Change: I472M
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000025413 Gene: ENSMUSG00000024534 AA Change: I472M
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: I472M
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000111069 Gene: ENSMUSG00000024534 AA Change: I472M
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: I472M
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127189 Gene: ENSMUSG00000024534 AA Change: I472M
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: I472M
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000137549 Gene: ENSMUSG00000024534 AA Change: I472M
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: I472M
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000137367 Gene: ENSMUSG00000024534 AA Change: I472M
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: I60M
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000137107 Gene: ENSMUSG00000024534 AA Change: I60M
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 damaging
Transcript: ENSMUST00000179625
AA Change: I412M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000136838 Gene: ENSMUSG00000024534 AA Change: I412M
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700102P08Rik |
A |
G |
9: 108,274,403 (GRCm39) |
I169V |
probably damaging |
Het |
4930503B20Rik |
C |
T |
3: 146,356,264 (GRCm39) |
E215K |
probably damaging |
Het |
Abca6 |
T |
C |
11: 110,141,234 (GRCm39) |
E29G |
probably damaging |
Het |
Acsm1 |
A |
G |
7: 119,239,920 (GRCm39) |
H288R |
probably damaging |
Het |
Adamts12 |
A |
G |
15: 11,277,506 (GRCm39) |
T707A |
possibly damaging |
Het |
Adcy2 |
C |
A |
13: 68,877,321 (GRCm39) |
|
probably null |
Het |
Agbl4 |
A |
T |
4: 111,514,527 (GRCm39) |
I513F |
possibly damaging |
Het |
Ak5 |
A |
T |
3: 152,361,670 (GRCm39) |
M84K |
possibly damaging |
Het |
Akap1 |
T |
C |
11: 88,736,453 (GRCm39) |
T103A |
probably benign |
Het |
Akap9 |
A |
G |
5: 4,100,590 (GRCm39) |
T2751A |
probably benign |
Het |
Amer3 |
A |
T |
1: 34,627,462 (GRCm39) |
H567L |
possibly damaging |
Het |
Ano6 |
A |
G |
15: 95,818,232 (GRCm39) |
Y325C |
probably benign |
Het |
Apba2 |
A |
G |
7: 64,345,554 (GRCm39) |
E248G |
possibly damaging |
Het |
Asap2 |
T |
A |
12: 21,315,983 (GRCm39) |
V967E |
probably damaging |
Het |
Atosa |
T |
A |
9: 74,932,961 (GRCm39) |
V976E |
probably damaging |
Het |
Boc |
A |
G |
16: 44,320,024 (GRCm39) |
V320A |
probably damaging |
Het |
Car13 |
T |
A |
3: 14,710,180 (GRCm39) |
Y41N |
possibly damaging |
Het |
Ccdc162 |
T |
C |
10: 41,428,352 (GRCm39) |
T1976A |
probably benign |
Het |
Cep295 |
A |
T |
9: 15,244,090 (GRCm39) |
H1455Q |
probably damaging |
Het |
Cep295 |
C |
A |
9: 15,246,404 (GRCm39) |
S684I |
possibly damaging |
Het |
Cr2 |
G |
T |
1: 194,836,581 (GRCm39) |
H861N |
probably damaging |
Het |
Cul5 |
T |
C |
9: 53,534,243 (GRCm39) |
I630V |
probably benign |
Het |
Cyp2c37 |
G |
A |
19: 39,982,596 (GRCm39) |
V145I |
probably benign |
Het |
Dnmt1 |
G |
A |
9: 20,833,443 (GRCm39) |
T500M |
probably damaging |
Het |
Elp1 |
T |
C |
4: 56,776,920 (GRCm39) |
T626A |
possibly damaging |
Het |
Fam161a |
T |
A |
11: 22,965,725 (GRCm39) |
I6N |
probably damaging |
Het |
Fry |
T |
C |
5: 150,304,332 (GRCm39) |
V574A |
probably damaging |
Het |
Glb1l3 |
G |
T |
9: 26,736,122 (GRCm39) |
L553I |
probably benign |
Het |
Gm1123 |
T |
C |
9: 98,896,244 (GRCm39) |
D212G |
probably benign |
Het |
Grin2a |
T |
A |
16: 9,810,090 (GRCm39) |
D103V |
probably damaging |
Het |
Heg1 |
A |
G |
16: 33,527,333 (GRCm39) |
I98V |
probably benign |
Het |
Hmcn2 |
C |
A |
2: 31,310,824 (GRCm39) |
T3356N |
possibly damaging |
Het |
Hpf1 |
T |
G |
8: 61,349,834 (GRCm39) |
I154S |
possibly damaging |
Het |
Ifnar2 |
A |
G |
16: 91,201,115 (GRCm39) |
D452G |
possibly damaging |
Het |
Iqcc |
A |
T |
4: 129,510,320 (GRCm39) |
H398Q |
possibly damaging |
Het |
Iqgap3 |
T |
C |
3: 88,025,006 (GRCm39) |
I669T |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,020,074 (GRCm39) |
T859A |
probably damaging |
Het |
Kansl1l |
T |
C |
1: 66,840,503 (GRCm39) |
M266V |
probably benign |
Het |
Kbtbd3 |
A |
G |
9: 4,331,426 (GRCm39) |
D600G |
possibly damaging |
Het |
Klf13 |
G |
A |
7: 63,541,348 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
A |
G |
15: 98,742,278 (GRCm39) |
|
probably benign |
Het |
Lama1 |
A |
G |
17: 68,109,943 (GRCm39) |
D2188G |
probably damaging |
Het |
Leng8 |
A |
G |
7: 4,148,273 (GRCm39) |
T682A |
probably damaging |
Het |
Mab21l4 |
T |
C |
1: 93,080,668 (GRCm39) |
T413A |
probably damaging |
Het |
Mslnl |
G |
T |
17: 25,956,816 (GRCm39) |
G34V |
possibly damaging |
Het |
Mycbp2 |
A |
T |
14: 103,426,044 (GRCm39) |
S2360R |
probably damaging |
Het |
Mycbp2 |
C |
A |
14: 103,426,051 (GRCm39) |
|
probably null |
Het |
Nkx2-2 |
T |
C |
2: 147,026,319 (GRCm39) |
T140A |
probably damaging |
Het |
Or11h6 |
T |
C |
14: 50,880,524 (GRCm39) |
V262A |
probably benign |
Het |
Or4c125 |
A |
T |
2: 89,170,049 (GRCm39) |
V199E |
possibly damaging |
Het |
Oser1 |
C |
T |
2: 163,248,965 (GRCm39) |
R79H |
probably damaging |
Het |
Pfas |
A |
G |
11: 68,881,958 (GRCm39) |
V909A |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,396,388 (GRCm39) |
E1970G |
probably benign |
Het |
Prph2 |
G |
T |
17: 47,221,593 (GRCm39) |
|
probably benign |
Het |
Rusc2 |
G |
T |
4: 43,425,758 (GRCm39) |
A1288S |
probably benign |
Het |
Scart2 |
G |
A |
7: 139,828,853 (GRCm39) |
V171I |
possibly damaging |
Het |
Sdha |
A |
G |
13: 74,471,958 (GRCm39) |
|
probably null |
Het |
Sec16a |
T |
G |
2: 26,329,907 (GRCm39) |
T703P |
probably benign |
Het |
Senp7 |
T |
A |
16: 55,993,571 (GRCm39) |
N724K |
possibly damaging |
Het |
Skint1 |
A |
G |
4: 111,882,699 (GRCm39) |
I248V |
probably benign |
Het |
Slc9a5 |
T |
C |
8: 106,083,645 (GRCm39) |
V395A |
probably benign |
Het |
Slco1a4 |
T |
C |
6: 141,780,385 (GRCm39) |
N135S |
possibly damaging |
Het |
Tacc2 |
A |
T |
7: 130,225,781 (GRCm39) |
D841V |
possibly damaging |
Het |
Tekt1 |
A |
T |
11: 72,242,663 (GRCm39) |
H281Q |
probably benign |
Het |
Tex46 |
G |
T |
4: 136,340,228 (GRCm39) |
M104I |
probably benign |
Het |
Tjp3 |
T |
C |
10: 81,114,454 (GRCm39) |
|
probably null |
Het |
Treh |
A |
G |
9: 44,593,975 (GRCm39) |
Y154C |
probably damaging |
Het |
Trim80 |
T |
A |
11: 115,337,611 (GRCm39) |
L428Q |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,830,968 (GRCm39) |
K1278E |
probably damaging |
Het |
Tut4 |
G |
A |
4: 108,414,570 (GRCm39) |
R49H |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,325,024 (GRCm39) |
M990T |
possibly damaging |
Het |
Vps9d1 |
A |
G |
8: 123,974,487 (GRCm39) |
S267P |
probably benign |
Het |
Ywhae |
T |
C |
11: 75,647,750 (GRCm39) |
M160T |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCAGAGGTTTTCAATGCGC -3'
(R):5'- GTGCATTTATGAAGCCCAGTCC -3'
Sequencing Primer
(F):5'- GAGGTTTTCAATGCGCACTAAATAGG -3'
(R):5'- TTTATGAAGCCCAGTCCTACCACAG -3'
|
Posted On |
2016-11-08 |