Incidental Mutation 'R4694:Sncaip'
ID 355593
Institutional Source Beutler Lab
Gene Symbol Sncaip
Ensembl Gene ENSMUSG00000024534
Gene Name synuclein, alpha interacting protein (synphilin)
Synonyms synphilin-1, SYPH1, 4933427B05Rik
MMRRC Submission 041945-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R4694 (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 C at 53039629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 548 (T548P)
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 benign
Transcript: ENSMUST00000025413
AA Change: T608P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025413
Gene: ENSMUSG00000024534
AA Change: T608P

DomainStartEndE-ValueType
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
AA Change: T608P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111069
Gene: ENSMUSG00000024534
AA Change: T608P

DomainStartEndE-ValueType
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
AA Change: T608P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127189
Gene: ENSMUSG00000024534
AA Change: T608P

DomainStartEndE-ValueType
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
AA Change: T608P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137549
Gene: ENSMUSG00000024534
AA Change: T608P

DomainStartEndE-ValueType
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: T608P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137367
Gene: ENSMUSG00000024534
AA Change: T608P

DomainStartEndE-ValueType
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: ENSMUST00000179689
AA Change: T196P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137107
Gene: ENSMUSG00000024534
AA Change: T196P

DomainStartEndE-ValueType
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: ENSMUST00000179625
AA Change: T548P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136838
Gene: ENSMUSG00000024534
AA Change: T548P

DomainStartEndE-ValueType
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: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 A T 17: 84,979,586 (GRCm39) F258Y probably damaging Het
Adamtsl4 C T 3: 95,587,055 (GRCm39) R765H probably damaging Het
Bicd1 T A 6: 149,311,051 (GRCm39) L42Q probably damaging Het
Cacna1e C T 1: 154,313,012 (GRCm39) probably null Het
Capn1 T A 19: 6,044,761 (GRCm39) K504* probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cep350 T C 1: 155,804,332 (GRCm39) K917R probably damaging Het
Cp A T 3: 20,029,049 (GRCm39) T509S probably benign Het
Cyp2d10 T C 15: 82,288,684 (GRCm39) D266G probably damaging Het
Dhodh C G 8: 110,333,048 (GRCm39) R7P probably damaging Het
Dmxl2 A G 9: 54,354,189 (GRCm39) L419P probably benign Het
Epb41l4b A T 4: 57,019,875 (GRCm39) M84K probably benign Het
Fbln7 A G 2: 128,722,345 (GRCm39) probably null Het
Fbxw11 C T 11: 32,592,820 (GRCm39) probably benign Het
Flnc C A 6: 29,443,447 (GRCm39) P543T probably damaging Het
Grid1 T C 14: 34,748,737 (GRCm39) S186P probably damaging Het
Hcfc2 C T 10: 82,559,534 (GRCm39) T382M probably damaging Het
Hdac9 G T 12: 34,487,246 (GRCm39) L73I probably damaging Het
Hnrnpa2b1 A T 6: 51,441,163 (GRCm39) D302E probably damaging Het
Ifi204 C T 1: 173,576,825 (GRCm39) C592Y probably damaging Het
Jph1 T A 1: 17,067,729 (GRCm39) I653F probably damaging Het
Kcnj3 A G 2: 55,484,918 (GRCm39) K339E probably benign Het
Kcp G A 6: 29,493,196 (GRCm39) T838I probably benign Het
Krtap26-1 A T 16: 88,444,108 (GRCm39) V171E possibly damaging Het
Lck G T 4: 129,442,765 (GRCm39) N452K possibly damaging Het
Madd A G 2: 90,990,673 (GRCm39) L1134S probably damaging Het
Mafk T C 5: 139,786,248 (GRCm39) S149P probably damaging Het
Man1c1 T C 4: 134,430,500 (GRCm39) D94G probably benign Het
Me2 T A 18: 73,934,930 (GRCm39) M38L probably benign Het
Muc2 A C 7: 141,306,082 (GRCm39) D257A probably damaging Het
Myh11 T C 16: 14,018,566 (GRCm39) K1927E probably damaging Het
Naaladl1 C T 19: 6,158,920 (GRCm39) P324S probably damaging Het
Ndufa10 T C 1: 92,379,824 (GRCm39) E303G probably benign Het
Nedd1 C T 10: 92,555,444 (GRCm39) V14I probably benign Het
Nwd1 T G 8: 73,393,958 (GRCm39) V407G probably damaging Het
Or2h15 A C 17: 38,441,748 (GRCm39) C112G probably damaging Het
Or4b1d T A 2: 89,968,593 (GRCm39) K297* probably null Het
Or4k15c T C 14: 50,321,476 (GRCm39) I221V probably benign Het
Or5w13 T A 2: 87,524,104 (GRCm39) T41S probably benign Het
Or7g29 A G 9: 19,286,694 (GRCm39) L161P probably damaging Het
Pgrmc2 T C 3: 41,024,840 (GRCm39) D144G probably damaging Het
Ppp3cb T C 14: 20,551,583 (GRCm39) N516S probably benign Het
Pramel27 T C 4: 143,579,530 (GRCm39) S372P probably damaging Het
Prelp A G 1: 133,842,485 (GRCm39) M220T probably damaging Het
Prss36 A G 7: 127,534,787 (GRCm39) W465R probably damaging Het
Pth2r C A 1: 65,375,920 (GRCm39) F59L probably benign Het
Rab20 C T 8: 11,504,485 (GRCm39) G72R probably damaging Het
Rab4a G T 8: 124,555,769 (GRCm39) G49W probably damaging Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rhox2c A C X: 36,635,351 (GRCm39) Q4H probably benign Het
Rock1 A T 18: 10,136,152 (GRCm39) Y178* probably null Het
Scaf8 C A 17: 3,247,679 (GRCm39) L1001I probably damaging Het
Sema3b G A 9: 107,482,201 (GRCm39) P26S probably benign Het
Slc23a1 A G 18: 35,752,633 (GRCm39) L548P probably damaging Het
Stpg2 C T 3: 139,023,177 (GRCm39) P398S possibly damaging Het
Stpg3 A C 2: 25,103,309 (GRCm39) V260G probably damaging Het
Tbc1d9 T A 8: 83,960,875 (GRCm39) F242I probably damaging Het
Tnks1bp1 G A 2: 84,902,066 (GRCm39) R992Q probably damaging Het
Tom1l1 T G 11: 90,537,675 (GRCm39) H394P possibly damaging Het
Topors T G 4: 40,261,442 (GRCm39) N614T possibly damaging Het
Trank1 A T 9: 111,221,129 (GRCm39) Q2622L probably benign Het
Trub2 A G 2: 29,668,858 (GRCm39) S186P probably damaging Het
Unc13c T A 9: 73,479,636 (GRCm39) H1756L probably benign Het
Vmn1r9 A T 6: 57,048,314 (GRCm39) I130F probably benign Het
Wdr72 A T 9: 74,086,837 (GRCm39) I602F probably damaging Het
Zfand3 T A 17: 30,354,362 (GRCm39) F60I possibly damaging Het
Zfp946 G A 17: 22,674,692 (GRCm39) G482E probably benign Het
Other mutations in Sncaip
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TCATATCAAAGGCTATGCAAGGTC -3'
(R):5'- TCAGTCTGGCTAGCTTCAGTTC -3'

Sequencing Primer
(F):5'- TCAAAGGCTATGCAAGGTCTTATGG -3'
(R):5'- GGCTAGCTTCAGTTCCCTCTTC -3'
Posted On 2015-10-21