Incidental Mutation 'R7234:Sncaip'
ID |
562731 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sncaip
|
Ensembl Gene |
ENSMUSG00000024534 |
Gene Name |
synuclein, alpha interacting protein (synphilin) |
Synonyms |
synphilin-1, SYPH1, 4933427B05Rik |
MMRRC Submission |
045304-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R7234 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
52900872-53049007 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 53048416 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 951
(H951Y)
|
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 benign
Transcript: ENSMUST00000025413
AA Change: H951Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000025413 Gene: ENSMUSG00000024534 AA Change: H951Y
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
|
SMART Domains |
Protein: ENSMUSP00000111069 Gene: ENSMUSG00000024534
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
|
SMART Domains |
Protein: ENSMUSP00000127189 Gene: ENSMUSG00000024534
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
|
SMART Domains |
Protein: ENSMUSP00000137549 Gene: ENSMUSG00000024534
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: H951Y
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000137367 Gene: ENSMUSG00000024534 AA Change: H951Y
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
|
SMART Domains |
Protein: ENSMUSP00000136838 Gene: ENSMUSG00000024534
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
|
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180259
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
100% (66/66) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acy3 |
T |
A |
19: 4,037,758 (GRCm39) |
Y88* |
probably null |
Het |
AI606181 |
T |
A |
19: 41,582,076 (GRCm39) |
I82N |
unknown |
Het |
Akap1 |
T |
C |
11: 88,729,808 (GRCm39) |
Y638C |
probably damaging |
Het |
Angpt1 |
T |
C |
15: 42,323,121 (GRCm39) |
N383D |
probably benign |
Het |
Ank |
T |
C |
15: 27,571,742 (GRCm39) |
|
probably null |
Het |
Aoc1 |
C |
T |
6: 48,882,750 (GRCm39) |
Q209* |
probably null |
Het |
Apol7c |
A |
T |
15: 77,409,875 (GRCm39) |
L357* |
probably null |
Het |
Atxn2l |
A |
G |
7: 126,092,373 (GRCm39) |
L958P |
probably damaging |
Het |
Cab39l |
T |
A |
14: 59,734,395 (GRCm39) |
|
probably null |
Het |
Cdk5rap2 |
A |
G |
4: 70,295,024 (GRCm39) |
|
probably null |
Het |
Cdkn3 |
T |
C |
14: 47,008,918 (GRCm39) |
S204P |
unknown |
Het |
Cds2 |
T |
C |
2: 132,146,400 (GRCm39) |
|
probably null |
Het |
Cideb |
C |
T |
14: 55,992,017 (GRCm39) |
R179H |
probably benign |
Het |
Cped1 |
A |
G |
6: 22,254,625 (GRCm39) |
Q1006R |
probably damaging |
Het |
Csmd2 |
A |
G |
4: 128,350,572 (GRCm39) |
Y1547C |
|
Het |
Dicer1 |
A |
G |
12: 104,675,108 (GRCm39) |
L718S |
probably damaging |
Het |
Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
Dyrk2 |
T |
C |
10: 118,696,136 (GRCm39) |
H374R |
possibly damaging |
Het |
Edem2 |
A |
T |
2: 155,552,886 (GRCm39) |
Y283N |
probably benign |
Het |
Ero1b |
A |
T |
13: 12,615,203 (GRCm39) |
S345C |
possibly damaging |
Het |
Fam83g |
T |
C |
11: 61,593,342 (GRCm39) |
V292A |
possibly damaging |
Het |
Farp2 |
A |
G |
1: 93,507,841 (GRCm39) |
D513G |
possibly damaging |
Het |
Fbxl5 |
A |
G |
5: 43,915,562 (GRCm39) |
W617R |
probably benign |
Het |
Fzd7 |
G |
A |
1: 59,522,443 (GRCm39) |
V109M |
probably damaging |
Het |
Gbp5 |
A |
T |
3: 142,226,898 (GRCm39) |
H583L |
probably benign |
Het |
Gm10306 |
T |
A |
4: 94,445,032 (GRCm39) |
L84M |
unknown |
Het |
Gsap |
A |
G |
5: 21,391,433 (GRCm39) |
T25A |
probably benign |
Het |
Hectd4 |
G |
T |
5: 121,467,136 (GRCm39) |
R2466L |
possibly damaging |
Het |
Ide |
C |
A |
19: 37,268,184 (GRCm39) |
C557F |
|
Het |
Ift70a2 |
A |
T |
2: 75,806,540 (GRCm39) |
Y657* |
probably null |
Het |
Igdcc4 |
T |
A |
9: 65,042,750 (GRCm39) |
C1234* |
probably null |
Het |
Ints4 |
A |
G |
7: 97,179,507 (GRCm39) |
I701V |
probably benign |
Het |
Kalrn |
T |
A |
16: 33,996,792 (GRCm39) |
I1467F |
possibly damaging |
Het |
Kcnip3 |
C |
A |
2: 127,363,256 (GRCm39) |
R2M |
unknown |
Het |
Kcnrg |
A |
T |
14: 61,845,531 (GRCm39) |
E190D |
unknown |
Het |
Klk13 |
T |
C |
7: 43,370,841 (GRCm39) |
L131P |
probably damaging |
Het |
Lhcgr |
A |
T |
17: 89,099,359 (GRCm39) |
L14Q |
possibly damaging |
Het |
Mdm4 |
A |
T |
1: 132,938,853 (GRCm39) |
D80E |
probably damaging |
Het |
Mib2 |
G |
T |
4: 155,742,350 (GRCm39) |
Q311K |
probably damaging |
Het |
Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,452,773 (GRCm39) |
S1703T |
probably damaging |
Het |
Naip6 |
A |
T |
13: 100,452,011 (GRCm39) |
C200* |
probably null |
Het |
Ncapd3 |
T |
A |
9: 26,961,655 (GRCm39) |
I361N |
probably damaging |
Het |
Nom1 |
A |
G |
5: 29,640,451 (GRCm39) |
E259G |
probably benign |
Het |
Or10j5 |
T |
A |
1: 172,784,673 (GRCm39) |
F104I |
probably damaging |
Het |
Or51v14 |
A |
G |
7: 103,261,089 (GRCm39) |
L157P |
probably damaging |
Het |
Plxna2 |
A |
T |
1: 194,488,698 (GRCm39) |
H1658L |
probably damaging |
Het |
Ranbp6 |
T |
C |
19: 29,789,462 (GRCm39) |
T297A |
possibly damaging |
Het |
Rap1gap |
T |
A |
4: 137,455,851 (GRCm39) |
C722* |
probably null |
Het |
Ribc2 |
A |
G |
15: 85,019,733 (GRCm39) |
K172E |
probably benign |
Het |
Scamp5 |
C |
A |
9: 57,354,423 (GRCm39) |
W77L |
probably damaging |
Het |
Scin |
T |
A |
12: 40,130,957 (GRCm39) |
K319* |
probably null |
Het |
Sec16a |
G |
T |
2: 26,329,780 (GRCm39) |
T745K |
probably damaging |
Het |
Slc15a2 |
G |
A |
16: 36,578,173 (GRCm39) |
A403V |
probably benign |
Het |
Slco6c1 |
A |
G |
1: 97,053,466 (GRCm39) |
V145A |
probably benign |
Het |
Spem1 |
A |
G |
11: 69,712,630 (GRCm39) |
|
probably null |
Het |
Spen |
C |
T |
4: 141,206,446 (GRCm39) |
R727Q |
unknown |
Het |
Thra |
T |
C |
11: 98,654,544 (GRCm39) |
S305P |
probably damaging |
Het |
Tlr1 |
A |
G |
5: 65,084,067 (GRCm39) |
V170A |
probably damaging |
Het |
Tmem260 |
T |
A |
14: 48,742,786 (GRCm39) |
C388* |
probably null |
Het |
Tmem60 |
T |
A |
5: 21,091,619 (GRCm39) |
V128D |
possibly damaging |
Het |
Tpo |
G |
A |
12: 30,142,685 (GRCm39) |
P680S |
probably benign |
Het |
Umodl1 |
A |
G |
17: 31,205,595 (GRCm39) |
E730G |
possibly damaging |
Het |
Vmn2r69 |
T |
C |
7: 85,056,315 (GRCm39) |
T608A |
probably benign |
Het |
Xrra1 |
G |
A |
7: 99,563,456 (GRCm39) |
S481N |
possibly damaging |
Het |
Zc3h4 |
G |
A |
7: 16,162,961 (GRCm39) |
V446I |
unknown |
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 |
|
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'- ATTCGAATGTGTTCAGTAAGTGTGC -3'
(R):5'- AGGCATCCAGATATTCTGCTC -3'
Sequencing Primer
(F):5'- AATAATTTGCCTCCTGGAATGAAAGG -3'
(R):5'- ATCCAGATATTCTGCTCGACTGGTG -3'
|
Posted On |
2019-06-26 |