Incidental Mutation 'R8719:Sncaip'
ID |
670045 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sncaip
|
Ensembl Gene |
ENSMUSG00000024534 |
Gene Name |
synuclein, alpha interacting protein (synphilin) |
Synonyms |
synphilin-1, SYPH1, 4933427B05Rik |
MMRRC Submission |
068614-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R8719 (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 T
at 53027910 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 433
(K433M)
|
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: K433M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000025413 Gene: ENSMUSG00000024534 AA Change: K433M
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: K433M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111069 Gene: ENSMUSG00000024534 AA Change: K433M
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: K433M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127189 Gene: ENSMUSG00000024534 AA Change: K433M
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
AA Change: K45N
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178011
AA Change: K433M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137549 Gene: ENSMUSG00000024534 AA Change: K433M
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: K433M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000137367 Gene: ENSMUSG00000024534 AA Change: K433M
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: K373M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136838 Gene: ENSMUSG00000024534 AA Change: K373M
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: K21M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000137107 Gene: ENSMUSG00000024534 AA Change: K21M
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: 99.2%
|
Validation Efficiency |
100% (61/61) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl1 |
T |
C |
8: 46,966,700 (GRCm39) |
I224T |
probably benign |
Het |
Adamts20 |
C |
G |
15: 94,241,903 (GRCm39) |
A702P |
probably damaging |
Het |
Ahdc1 |
T |
A |
4: 132,791,533 (GRCm39) |
Y925N |
possibly damaging |
Het |
Anapc1 |
T |
C |
2: 128,483,369 (GRCm39) |
E1242G |
probably damaging |
Het |
Angptl2 |
A |
G |
2: 33,133,914 (GRCm39) |
N412S |
possibly damaging |
Het |
Aox3 |
T |
C |
1: 58,158,696 (GRCm39) |
V89A |
probably damaging |
Het |
Atxn1l |
A |
T |
8: 110,459,861 (GRCm39) |
S134T |
possibly damaging |
Het |
Brf1 |
C |
A |
12: 112,943,304 (GRCm39) |
|
probably benign |
Het |
Cab39l |
A |
T |
14: 59,734,314 (GRCm39) |
H11L |
probably benign |
Het |
Cabcoco1 |
A |
G |
10: 68,272,671 (GRCm39) |
|
probably benign |
Het |
Ccdc150 |
C |
A |
1: 54,302,668 (GRCm39) |
P96Q |
probably benign |
Het |
Chek2 |
T |
C |
5: 111,014,908 (GRCm39) |
V459A |
probably damaging |
Het |
Cntnap2 |
A |
T |
6: 45,978,161 (GRCm39) |
D272V |
probably damaging |
Het |
Cspp1 |
T |
C |
1: 10,160,516 (GRCm39) |
S572P |
possibly damaging |
Het |
Cysltr2 |
T |
C |
14: 73,267,111 (GRCm39) |
T200A |
possibly damaging |
Het |
Dglucy |
T |
C |
12: 100,804,821 (GRCm39) |
L104P |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,960,289 (GRCm39) |
M2222K |
probably damaging |
Het |
Dync2h1 |
C |
A |
9: 7,041,641 (GRCm39) |
V3334F |
probably benign |
Het |
Ear2 |
A |
T |
14: 44,340,734 (GRCm39) |
T131S |
possibly damaging |
Het |
Eef1akmt2 |
A |
T |
7: 132,452,340 (GRCm39) |
V92D |
probably damaging |
Het |
Fam83c |
T |
A |
2: 155,671,128 (GRCm39) |
Q769L |
probably benign |
Het |
Fanca |
A |
T |
8: 124,014,867 (GRCm39) |
C812S |
probably benign |
Het |
Gm21663 |
T |
G |
5: 26,146,162 (GRCm39) |
R50S |
probably damaging |
Het |
Gm5591 |
T |
G |
7: 38,221,614 (GRCm39) |
S152R |
probably benign |
Het |
Gm6370 |
T |
G |
5: 146,430,626 (GRCm39) |
D270E |
probably damaging |
Het |
H2-T22 |
T |
C |
17: 36,352,835 (GRCm39) |
I91V |
probably benign |
Het |
Hdac5 |
T |
C |
11: 102,097,963 (GRCm39) |
M61V |
probably benign |
Het |
Hsd17b6 |
A |
G |
10: 127,829,492 (GRCm39) |
S237P |
possibly damaging |
Het |
Khk |
T |
A |
5: 31,088,374 (GRCm39) |
F294I |
possibly damaging |
Het |
Klc1 |
G |
A |
12: 111,772,509 (GRCm39) |
|
probably benign |
Het |
Lamb3 |
T |
C |
1: 193,006,099 (GRCm39) |
W143R |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,264 (GRCm39) |
I171T |
probably damaging |
Het |
Meis1 |
A |
G |
11: 18,835,587 (GRCm39) |
S344P |
probably benign |
Het |
Nf1 |
C |
A |
11: 79,281,119 (GRCm39) |
R125S |
possibly damaging |
Het |
Nrcam |
A |
G |
12: 44,586,325 (GRCm39) |
E105G |
probably benign |
Het |
Nudt22 |
T |
C |
19: 6,972,638 (GRCm39) |
D150G |
possibly damaging |
Het |
Or14j8 |
T |
C |
17: 38,263,895 (GRCm39) |
T7A |
probably damaging |
Het |
Or5an1 |
A |
G |
19: 12,260,792 (GRCm39) |
I127V |
probably benign |
Het |
Or5b109 |
A |
G |
19: 13,211,836 (GRCm39) |
Y74C |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,763,778 (GRCm39) |
R799* |
probably null |
Het |
Pelp1 |
T |
C |
11: 70,292,789 (GRCm39) |
N175S |
probably damaging |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Pik3r4 |
C |
A |
9: 105,559,394 (GRCm39) |
S1162R |
probably benign |
Het |
Pkd1l3 |
A |
T |
8: 110,341,255 (GRCm39) |
N36I |
unknown |
Het |
Pomk |
T |
A |
8: 26,473,503 (GRCm39) |
Y150F |
possibly damaging |
Het |
Rdh11 |
T |
A |
12: 79,229,574 (GRCm39) |
H233L |
probably benign |
Het |
Rln1 |
A |
T |
19: 29,309,281 (GRCm39) |
M166K |
probably benign |
Het |
Rnf40 |
T |
A |
7: 127,191,834 (GRCm39) |
L356Q |
probably damaging |
Het |
Sin3b |
G |
T |
8: 73,450,139 (GRCm39) |
G19W |
unknown |
Het |
Slc6a15 |
A |
G |
10: 103,240,176 (GRCm39) |
R300G |
probably damaging |
Het |
Tead2 |
A |
T |
7: 44,882,316 (GRCm39) |
|
probably benign |
Het |
Tespa1 |
A |
G |
10: 130,184,108 (GRCm39) |
D63G |
probably benign |
Het |
Tmem117 |
T |
C |
15: 94,992,248 (GRCm39) |
F303L |
probably damaging |
Het |
Tmem270 |
T |
G |
5: 134,930,650 (GRCm39) |
T204P |
probably damaging |
Het |
Trip12 |
A |
G |
1: 84,722,790 (GRCm39) |
V1320A |
probably damaging |
Het |
Ttc7b |
A |
G |
12: 100,267,812 (GRCm39) |
L843P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,543,041 (GRCm39) |
Y33315C |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,607,146 (GRCm39) |
V17959A |
possibly damaging |
Het |
Vmn2r73 |
A |
G |
7: 85,521,095 (GRCm39) |
V291A |
probably damaging |
Het |
Ywhag |
T |
A |
5: 135,939,998 (GRCm39) |
T199S |
probably benign |
Het |
Zfp810 |
T |
C |
9: 22,190,571 (GRCm39) |
T77A |
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 |
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 |
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'- TCATTTCAGTTAGACCCAGAGG -3'
(R):5'- CAAAAGTTCTCCCTTCCCACTATGG -3'
Sequencing Primer
(F):5'- CAGAGGTTTTCAATGCGCAC -3'
(R):5'- CCTTCCCACTATGGTTCCTTC -3'
|
Posted On |
2021-04-30 |