Incidental Mutation 'R6369:Sncaip'
| ID |
512879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sncaip
|
| Ensembl Gene |
ENSMUSG00000024534 |
| Gene Name |
synuclein, alpha interacting protein (synphilin) |
| Synonyms |
synphilin-1, 4933427B05Rik, SYPH1 |
| MMRRC Submission |
044519-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R6369 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
52767709-52915935 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52868604 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 66
(I66V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136838
(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 |
possibly damaging
Transcript: ENSMUST00000025413
AA Change: I66V
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000025413
Gene: ENSMUSG00000024534
AA Change: I66V
| 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: I66V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111069
Gene: ENSMUSG00000024534
AA Change: I66V
| 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 |
possibly damaging
Transcript: ENSMUST00000163742
AA Change: I66V
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000127189
Gene: ENSMUSG00000024534
AA Change: I66V
| 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 |
possibly damaging
Transcript: ENSMUST00000178011
AA Change: I66V
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000137549
Gene: ENSMUSG00000024534
AA Change: I66V
| 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 |
possibly damaging
Transcript: ENSMUST00000178678
AA Change: I66V
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000137367
Gene: ENSMUSG00000024534
AA Change: I66V
| 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: I66V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136838
Gene: ENSMUSG00000024534
AA Change: I66V
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (54/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
C |
T |
17: 13,835,343 (GRCm38) |
R571* |
probably null |
Het |
| Asb18 |
A |
T |
1: 90,014,471 (GRCm38) |
I36N |
probably damaging |
Het |
| Ascc3 |
G |
A |
10: 50,699,985 (GRCm38) |
G779S |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 79,854,555 (GRCm38) |
Q205R |
probably damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,392,745 (GRCm38) |
I235T |
probably damaging |
Het |
| Bri3bp |
A |
G |
5: 125,454,701 (GRCm38) |
N237S |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,915,485 (GRCm38) |
N256S |
probably benign |
Het |
| Cchcr1 |
T |
C |
17: 35,528,176 (GRCm38) |
I474T |
probably damaging |
Het |
| Cd209c |
T |
C |
8: 3,944,984 (GRCm38) |
Y60C |
probably damaging |
Het |
| Cd300c |
C |
A |
11: 114,957,555 (GRCm38) |
D171Y |
probably damaging |
Het |
| Crb1 |
C |
T |
1: 139,237,462 (GRCm38) |
V975M |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 17,535,004 (GRCm38) |
|
probably benign |
Het |
| Ctnna2 |
A |
G |
6: 76,980,695 (GRCm38) |
S524P |
possibly damaging |
Het |
| Eno1 |
T |
C |
4: 150,239,568 (GRCm38) |
|
probably null |
Het |
| Ero1l |
T |
C |
14: 45,299,958 (GRCm38) |
I170M |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,947,331 (GRCm38) |
M344T |
unknown |
Het |
| Frem1 |
A |
T |
4: 82,913,792 (GRCm38) |
|
probably null |
Het |
| Gjb5 |
G |
T |
4: 127,355,930 (GRCm38) |
D140E |
possibly damaging |
Het |
| Gm11595 |
G |
A |
11: 99,772,555 (GRCm38) |
R100C |
unknown |
Het |
| Hk2 |
G |
T |
6: 82,736,753 (GRCm38) |
S449R |
probably damaging |
Het |
| Hs3st3a1 |
A |
T |
11: 64,520,601 (GRCm38) |
I322F |
probably benign |
Het |
| Itga1 |
T |
C |
13: 114,965,660 (GRCm38) |
I1145V |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,484,694 (GRCm38) |
L1295S |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,410,562 (GRCm38) |
D49G |
possibly damaging |
Het |
| Mef2b |
T |
A |
8: 70,165,559 (GRCm38) |
D96E |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,261,187 (GRCm38) |
D461V |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,101,076 (GRCm38) |
S1104P |
probably damaging |
Het |
| Nab1 |
A |
G |
1: 52,490,222 (GRCm38) |
L172P |
probably damaging |
Het |
| Olfr123 |
T |
G |
17: 37,795,496 (GRCm38) |
D17E |
probably benign |
Het |
| Pate1 |
A |
G |
9: 35,687,028 (GRCm38) |
V18A |
probably benign |
Het |
| Pink1 |
T |
C |
4: 138,320,734 (GRCm38) |
|
probably null |
Het |
| Pnpla1 |
T |
A |
17: 28,878,481 (GRCm38) |
I207N |
probably damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,886,542 (GRCm38) |
E341G |
possibly damaging |
Het |
| Ppp1r21 |
C |
A |
17: 88,582,412 (GRCm38) |
|
probably null |
Het |
| Rad52 |
A |
G |
6: 119,914,207 (GRCm38) |
E76G |
unknown |
Het |
| Rad54l |
A |
G |
4: 116,111,189 (GRCm38) |
|
probably null |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,446 (GRCm38) |
M17V |
probably benign |
Het |
| Rbm42 |
A |
G |
7: 30,641,313 (GRCm38) |
M411T |
unknown |
Het |
| Reln |
A |
G |
5: 22,051,361 (GRCm38) |
I495T |
probably benign |
Het |
| Rnf224 |
A |
G |
2: 25,235,942 (GRCm38) |
F133S |
probably damaging |
Het |
| Rrm1 |
C |
A |
7: 102,446,702 (GRCm38) |
H87Q |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,103,962 (GRCm38) |
D235G |
possibly damaging |
Het |
| Serpinb3d |
G |
T |
1: 107,080,753 (GRCm38) |
N127K |
probably benign |
Het |
| Skint7 |
A |
T |
4: 111,980,293 (GRCm38) |
E89D |
probably benign |
Het |
| Slc22a5 |
T |
G |
11: 53,891,370 (GRCm38) |
N57T |
probably damaging |
Het |
| Smarcd3 |
A |
T |
5: 24,594,984 (GRCm38) |
F263I |
probably damaging |
Het |
| Syngr1 |
A |
C |
15: 80,115,590 (GRCm38) |
|
probably benign |
Het |
| Tbc1d2 |
A |
G |
4: 46,614,420 (GRCm38) |
Y554H |
probably benign |
Het |
| Tmem198 |
T |
C |
1: 75,479,743 (GRCm38) |
V44A |
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,512,285 (GRCm38) |
|
probably null |
Het |
| Uox |
C |
T |
3: 146,624,577 (GRCm38) |
R163* |
probably null |
Het |
| Vmn2r111 |
C |
T |
17: 22,548,602 (GRCm38) |
C638Y |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,574,444 (GRCm38) |
Y632C |
probably damaging |
Het |
| Zfp212 |
T |
C |
6: 47,930,897 (GRCm38) |
V270A |
probably benign |
Het |
| Zfp92 |
G |
A |
X: 73,421,968 (GRCm38) |
R189H |
possibly damaging |
Homo |
|
| Other mutations in Sncaip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00504:Sncaip
|
APN |
18 |
52,884,963 (GRCm38) |
splice site |
probably null |
|
|
IGL01554:Sncaip
|
APN |
18 |
52,868,934 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01802:Sncaip
|
APN |
18 |
52,869,037 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02658:Sncaip
|
APN |
18 |
52,894,955 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL02737:Sncaip
|
APN |
18 |
52,907,056 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL03017:Sncaip
|
APN |
18 |
52,894,937 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
PIT4445001:Sncaip
|
UTSW |
18 |
52,868,944 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0218:Sncaip
|
UTSW |
18 |
52,907,328 (GRCm38) |
missense |
probably benign |
0.18 |
|
R0325:Sncaip
|
UTSW |
18 |
52,905,809 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0450:Sncaip
|
UTSW |
18 |
52,868,709 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0469:Sncaip
|
UTSW |
18 |
52,868,709 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1494:Sncaip
|
UTSW |
18 |
52,868,886 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1897:Sncaip
|
UTSW |
18 |
52,894,790 (GRCm38) |
splice site |
probably null |
|
|
R1962:Sncaip
|
UTSW |
18 |
52,871,362 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2238:Sncaip
|
UTSW |
18 |
52,868,547 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2935:Sncaip
|
UTSW |
18 |
52,838,032 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4044:Sncaip
|
UTSW |
18 |
52,907,403 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4694:Sncaip
|
UTSW |
18 |
52,906,557 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4810:Sncaip
|
UTSW |
18 |
52,907,199 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R4850:Sncaip
|
UTSW |
18 |
52,871,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4857:Sncaip
|
UTSW |
18 |
52,869,225 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4939:Sncaip
|
UTSW |
18 |
52,907,263 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R5384:Sncaip
|
UTSW |
18 |
52,885,041 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5610:Sncaip
|
UTSW |
18 |
52,868,919 (GRCm38) |
missense |
probably benign |
|
|
R5645:Sncaip
|
UTSW |
18 |
52,894,956 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5797:Sncaip
|
UTSW |
18 |
52,898,204 (GRCm38) |
missense |
probably benign |
0.28 |
|
R5977:Sncaip
|
UTSW |
18 |
52,869,321 (GRCm38) |
missense |
probably benign |
|
|
R6197:Sncaip
|
UTSW |
18 |
52,906,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6505:Sncaip
|
UTSW |
18 |
52,906,537 (GRCm38) |
nonsense |
probably null |
|
|
R6604:Sncaip
|
UTSW |
18 |
52,905,846 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R6880:Sncaip
|
UTSW |
18 |
52,869,064 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7215:Sncaip
|
UTSW |
18 |
52,907,343 (GRCm38) |
nonsense |
probably null |
|
|
R7234:Sncaip
|
UTSW |
18 |
52,915,344 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8523:Sncaip
|
UTSW |
18 |
52,838,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8719:Sncaip
|
UTSW |
18 |
52,894,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8781:Sncaip
|
UTSW |
18 |
52,906,542 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8786:Sncaip
|
UTSW |
18 |
52,898,262 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8826:Sncaip
|
UTSW |
18 |
52,915,309 (GRCm38) |
missense |
probably benign |
|
|
R8985:Sncaip
|
UTSW |
18 |
52,869,097 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9067:Sncaip
|
UTSW |
18 |
52,906,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9187:Sncaip
|
UTSW |
18 |
52,906,939 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9632:Sncaip
|
UTSW |
18 |
52,906,654 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9696:Sncaip
|
UTSW |
18 |
52,905,843 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Sncaip
|
UTSW |
18 |
52,907,425 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATGGAGACCTACTGTGAAC -3'
(R):5'- TGTCGAGGTCATAGTGCTCCAG -3'
Sequencing Primer
(F):5'- TGGAGACCTACTGTGAACATAAC -3'
(R):5'- GTCATAGTGCTCCAGCTCGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation