Incidental Mutation 'R4850:Sncaip'
| ID |
373505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sncaip
|
| Ensembl Gene |
ENSMUSG00000024534 |
| Gene Name |
synuclein, alpha interacting protein (synphilin) |
| Synonyms |
synphilin-1, SYPH1, 4933427B05Rik |
| MMRRC Submission |
042462-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R4850 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
52900872-53049007 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53004456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 361
(H361L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137367
(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: H361L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025413
Gene: ENSMUSG00000024534
AA Change: H361L
| 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: H361L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111069
Gene: ENSMUSG00000024534
AA Change: H361L
| 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: H361L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127189
Gene: ENSMUSG00000024534
AA Change: H361L
| 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: H361L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137549
Gene: ENSMUSG00000024534
AA Change: H361L
| 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: H361L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137367
Gene: ENSMUSG00000024534
AA Change: H361L
| 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
|
| Meta Mutation Damage Score |
0.5644 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
99% (79/80) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
C |
T |
8: 124,709,429 (GRCm39) |
A42T |
probably benign |
Het |
| Acsf3 |
T |
C |
8: 123,544,175 (GRCm39) |
V551A |
probably damaging |
Het |
| Adgrl2 |
G |
A |
3: 148,564,656 (GRCm39) |
T304I |
probably damaging |
Het |
| Akr1d1 |
A |
G |
6: 37,531,522 (GRCm39) |
|
probably null |
Het |
| Ankrd17 |
A |
T |
5: 90,412,645 (GRCm39) |
H1226Q |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,047,998 (GRCm39) |
I847T |
probably damaging |
Het |
| Atad2b |
G |
A |
12: 4,993,251 (GRCm39) |
G257S |
probably benign |
Het |
| Cand2 |
A |
T |
6: 115,778,909 (GRCm39) |
T1158S |
probably benign |
Het |
| Cic |
G |
A |
7: 24,972,327 (GRCm39) |
R686H |
probably damaging |
Het |
| Cldn1 |
T |
A |
16: 26,181,913 (GRCm39) |
T99S |
probably benign |
Het |
| Cnga3 |
G |
T |
1: 37,297,087 (GRCm39) |
E173* |
probably null |
Het |
| Cplane1 |
T |
C |
15: 8,292,422 (GRCm39) |
S3012P |
unknown |
Het |
| Cryge |
G |
T |
1: 65,090,211 (GRCm39) |
|
probably benign |
Het |
| Dsp |
T |
A |
13: 38,376,445 (GRCm39) |
L1410H |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,134,364 (GRCm39) |
T1548A |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,756,878 (GRCm39) |
D1917G |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fn3krp |
A |
T |
11: 121,315,879 (GRCm39) |
H90L |
possibly damaging |
Het |
| Garin2 |
A |
G |
12: 78,761,927 (GRCm39) |
D197G |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,023,716 (GRCm39) |
T56S |
probably benign |
Het |
| Gm4847 |
A |
T |
1: 166,469,908 (GRCm39) |
I55K |
probably damaging |
Het |
| Gsn |
T |
A |
2: 35,173,912 (GRCm39) |
|
probably null |
Het |
| H2bc11 |
G |
T |
13: 22,227,421 (GRCm39) |
|
probably benign |
Het |
| Haghl |
T |
C |
17: 26,001,980 (GRCm39) |
|
probably benign |
Het |
| Hmg20b |
T |
A |
10: 81,182,761 (GRCm39) |
E139V |
probably damaging |
Het |
| Hsd3b6 |
G |
A |
3: 98,715,221 (GRCm39) |
T57I |
probably benign |
Het |
| Igkv5-48 |
A |
G |
6: 69,703,780 (GRCm39) |
S42P |
probably damaging |
Het |
| Igsf23 |
T |
C |
7: 19,687,859 (GRCm39) |
|
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,798,112 (GRCm39) |
F874L |
probably damaging |
Het |
| Maf1 |
T |
C |
15: 76,237,162 (GRCm39) |
F110L |
possibly damaging |
Het |
| Mtpap |
C |
T |
18: 4,387,044 (GRCm39) |
R365W |
probably damaging |
Het |
| Mtus1 |
A |
C |
8: 41,537,507 (GRCm39) |
S70A |
possibly damaging |
Het |
| Nfatc1 |
T |
A |
18: 80,741,080 (GRCm39) |
T307S |
probably benign |
Het |
| Nphs1 |
T |
G |
7: 30,162,657 (GRCm39) |
S379A |
possibly damaging |
Het |
| Nup205 |
A |
G |
6: 35,207,465 (GRCm39) |
T1506A |
probably benign |
Het |
| Or13f5 |
T |
C |
4: 52,825,450 (GRCm39) |
S18P |
possibly damaging |
Het |
| Or8u9 |
T |
A |
2: 86,002,015 (GRCm39) |
I49F |
probably damaging |
Het |
| Pcdhga8 |
A |
T |
18: 37,860,762 (GRCm39) |
Y606F |
probably damaging |
Het |
| Pde7a |
A |
G |
3: 19,297,281 (GRCm39) |
V123A |
probably benign |
Het |
| Pex1 |
C |
T |
5: 3,674,426 (GRCm39) |
T809I |
probably benign |
Het |
| Prdm13 |
C |
A |
4: 21,678,243 (GRCm39) |
R749L |
possibly damaging |
Het |
| Prkcd |
A |
G |
14: 30,321,700 (GRCm39) |
L498P |
probably damaging |
Het |
| Pros1 |
A |
T |
16: 62,705,887 (GRCm39) |
E67V |
probably damaging |
Het |
| Rab44 |
A |
G |
17: 29,359,063 (GRCm39) |
E417G |
possibly damaging |
Het |
| Rangrf |
A |
G |
11: 68,864,466 (GRCm39) |
|
probably null |
Het |
| Rp1 |
T |
A |
1: 4,418,898 (GRCm39) |
K738M |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,683,706 (GRCm39) |
D3119E |
probably damaging |
Het |
| Ryr2 |
G |
A |
13: 11,760,638 (GRCm39) |
R1482C |
probably damaging |
Het |
| Sbspon |
T |
A |
1: 15,929,192 (GRCm39) |
T200S |
probably damaging |
Het |
| Sfxn5 |
T |
C |
6: 85,309,358 (GRCm39) |
|
probably benign |
Het |
| Slc26a8 |
T |
A |
17: 28,873,857 (GRCm39) |
I377F |
probably benign |
Het |
| Slc30a7 |
A |
G |
3: 115,786,657 (GRCm39) |
F72L |
probably damaging |
Het |
| Slc32a1 |
T |
C |
2: 158,456,112 (GRCm39) |
F256L |
possibly damaging |
Het |
| Slco6b1 |
T |
C |
1: 96,839,558 (GRCm39) |
|
noncoding transcript |
Het |
| Smpd1 |
A |
G |
7: 105,205,192 (GRCm39) |
H357R |
probably benign |
Het |
| Tenm2 |
A |
C |
11: 35,914,315 (GRCm39) |
Y2406* |
probably null |
Het |
| Terb1 |
T |
A |
8: 105,212,057 (GRCm39) |
H308L |
probably benign |
Het |
| Trim61 |
A |
T |
8: 65,466,070 (GRCm39) |
L397H |
probably damaging |
Het |
| Trp53bp1 |
T |
A |
2: 121,035,594 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
G |
2: 76,611,899 (GRCm39) |
E9007D |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,592,302 (GRCm39) |
C319* |
probably null |
Het |
| Vmn2r95 |
T |
C |
17: 18,671,915 (GRCm39) |
Y551H |
probably damaging |
Het |
| Vwde |
A |
T |
6: 13,196,047 (GRCm39) |
V326D |
possibly damaging |
Het |
| Xdh |
A |
G |
17: 74,205,330 (GRCm39) |
L1045P |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,956,457 (GRCm39) |
I1688T |
possibly damaging |
Het |
| Zwint |
T |
A |
10: 72,491,788 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGAACTGTTGGTCCCCTG -3'
(R):5'- CAGCGTGGTAGTGAATGACATG -3'
Sequencing Primer
(F):5'- TGTGCCCAGTGTAGACCCTG -3'
(R):5'- CTTTCCAATAGCTTAGCTCACAAG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation