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) question?
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

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
SMART Domains Protein: ENSMUSP00000111069
Gene: ENSMUSG00000024534

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
SMART Domains Protein: ENSMUSP00000127189
Gene: ENSMUSG00000024534

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
SMART Domains Protein: ENSMUSP00000137549
Gene: ENSMUSG00000024534

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: H951Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137367
Gene: ENSMUSG00000024534
AA Change: H951Y

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: ENSMUST00000179625
SMART Domains Protein: ENSMUSP00000136838
Gene: ENSMUSG00000024534

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: ENSMUST00000179689
SMART Domains Protein: ENSMUSP00000137107
Gene: ENSMUSG00000024534

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: 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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