Incidental Mutation 'R5977:Sncaip'
ID 481227
Institutional Source Beutler Lab
Gene Symbol Sncaip
Ensembl Gene ENSMUSG00000024534
Gene Name synuclein, alpha interacting protein (synphilin)
Synonyms synphilin-1, SYPH1, 4933427B05Rik
MMRRC Submission 044159-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R5977 (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 G at 53002393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 305 (T305A)
Ref Sequence ENSEMBL: ENSMUSP00000136838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025413] [ENSMUST00000115410] [ENSMUST00000163742] [ENSMUST00000177861] [ENSMUST00000178011] [ENSMUST00000178678] [ENSMUST00000178883] [ENSMUST00000179625] [ENSMUST00000180259] [ENSMUST00000179689]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025413
AA Change: T305A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025413
Gene: ENSMUSG00000024534
AA Change: T305A

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: T305A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111069
Gene: ENSMUSG00000024534
AA Change: T305A

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: T305A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127189
Gene: ENSMUSG00000024534
AA Change: T305A

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: T305A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137549
Gene: ENSMUSG00000024534
AA Change: T305A

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: T305A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137367
Gene: ENSMUSG00000024534
AA Change: T305A

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
AA Change: T305A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136838
Gene: ENSMUSG00000024534
AA Change: T305A

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
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 97% (72/74)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A T 10: 100,451,106 (GRCm39) R446S probably damaging Het
2900092C05Rik A T 7: 12,288,664 (GRCm39) H159L probably benign Het
4933405O20Rik G A 7: 50,249,838 (GRCm39) V291I probably damaging Het
A2ml1 A G 6: 128,558,085 (GRCm39) Y24H probably damaging Het
Adgrv1 C T 13: 81,583,678 (GRCm39) probably null Het
Ankrd52 C T 10: 128,218,566 (GRCm39) H351Y probably damaging Het
Anks6 C A 4: 47,035,748 (GRCm39) A588S probably benign Het
Arl15 T G 13: 114,070,645 (GRCm39) V80G probably damaging Het
Atp8a1 A G 5: 67,904,628 (GRCm39) I532T possibly damaging Het
Birc6 T C 17: 74,910,031 (GRCm39) C1475R probably damaging Het
Carmil1 C T 13: 24,253,719 (GRCm39) R394Q probably damaging Het
Cbfa2t2 T C 2: 154,359,697 (GRCm39) I254T probably damaging Het
Cemip2 A G 19: 21,803,447 (GRCm39) T827A probably benign Het
Col6a3 A G 1: 90,749,571 (GRCm39) V421A possibly damaging Het
Cped1 T C 6: 22,254,607 (GRCm39) V1000A probably damaging Het
Cr1l A T 1: 194,797,076 (GRCm39) Y282* probably null Het
Cryl1 G T 14: 57,620,236 (GRCm39) T43K probably benign Het
Csmd2 C T 4: 127,952,827 (GRCm39) P92L probably damaging Het
Ddx60 G A 8: 62,474,444 (GRCm39) probably null Het
Dhrs7b C T 11: 60,743,328 (GRCm39) R187* probably null Het
Dmtf1 T C 5: 9,190,451 (GRCm39) T88A probably damaging Het
Dnah2 T C 11: 69,411,707 (GRCm39) E305G possibly damaging Het
Dscaml1 A C 9: 45,632,596 (GRCm39) N1154T probably benign Het
Efhc1 A G 1: 21,030,442 (GRCm39) Y125C probably damaging Het
Egflam T A 15: 7,347,726 (GRCm39) Y68F possibly damaging Het
Gcm2 A G 13: 41,256,603 (GRCm39) V382A probably damaging Het
Gm18358 A G 7: 84,739,756 (GRCm39) noncoding transcript Het
Gm3443 T G 19: 21,534,960 (GRCm39) I75S probably benign Het
Gpr182 C A 10: 127,586,748 (GRCm39) V68F possibly damaging Het
Herc1 T A 9: 66,340,604 (GRCm39) M1651K possibly damaging Het
Hey1 A T 3: 8,731,418 (GRCm39) probably null Het
Ighv1-43 A C 12: 114,909,829 (GRCm39) V31G probably benign Het
Il17rc T C 6: 113,459,692 (GRCm39) V450A probably damaging Het
Kbtbd4 T G 2: 90,736,487 (GRCm39) V166G probably benign Het
Marveld2 T C 13: 100,748,197 (GRCm39) N294S possibly damaging Het
Mtdh A G 15: 34,099,720 (GRCm39) K61E probably damaging Het
Muc5ac T C 7: 141,350,104 (GRCm39) S616P possibly damaging Het
Myh15 T C 16: 48,973,866 (GRCm39) L1292P probably damaging Het
Nek8 C T 11: 78,058,651 (GRCm39) V550M probably benign Het
Nup155 T A 15: 8,159,721 (GRCm39) probably null Het
Or2y17 G A 11: 49,231,592 (GRCm39) V78M probably damaging Het
Or7c70 A T 10: 78,683,572 (GRCm39) M59K possibly damaging Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Papln G A 12: 83,831,143 (GRCm39) W1099* probably null Het
Pcdhb17 A G 18: 37,618,720 (GRCm39) Y170C probably damaging Het
Pramel12 T C 4: 143,144,229 (GRCm39) Y192H probably benign Het
Prss39 T G 1: 34,541,783 (GRCm39) C287G probably damaging Het
Pyroxd2 A G 19: 42,723,911 (GRCm39) V338A probably damaging Het
Rab19 T A 6: 39,360,860 (GRCm39) F3I probably benign Het
Relt A G 7: 100,512,355 (GRCm39) probably benign Het
Sbf2 T A 7: 109,977,193 (GRCm39) H647L probably benign Het
Scube1 C T 15: 83,513,689 (GRCm39) C327Y probably damaging Het
Sec14l4 A C 11: 3,990,055 (GRCm39) Q118P possibly damaging Het
Shisa9 C G 16: 12,085,292 (GRCm39) D300E probably benign Het
Smg1 A G 7: 117,740,580 (GRCm39) probably benign Het
Sorcs3 T C 19: 48,784,889 (GRCm39) V1104A probably damaging Het
Ugt1a6b C T 1: 88,143,982 (GRCm39) R201C probably damaging Het
Unc119b A G 5: 115,268,612 (GRCm39) V91A probably benign Het
Uvssa A G 5: 33,547,204 (GRCm39) K257E probably damaging Het
Vmn1r199 A C 13: 22,567,416 (GRCm39) M237L probably benign Het
Vmn1r69 G A 7: 10,314,417 (GRCm39) R26W probably damaging Het
Vmn2r54 A G 7: 12,366,143 (GRCm39) F264L probably damaging Het
Vmn2r7 C T 3: 64,623,464 (GRCm39) W285* probably null Het
Vmn2r78 T A 7: 86,569,541 (GRCm39) S145T possibly damaging Het
Vmn2r78 T A 7: 86,604,115 (GRCm39) N764K probably benign Het
Wdr5b T G 16: 35,862,374 (GRCm39) H164Q probably damaging Het
Zcchc7 G A 4: 44,894,982 (GRCm39) V236I possibly damaging Het
Zfp729b G A 13: 67,739,740 (GRCm39) R842C 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
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
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'- TGGCCCTGCATATGAATCAG -3'
(R):5'- AGCCACAGGTCAAGATTTAGC -3'

Sequencing Primer
(F):5'- TGGCCCTGCATATGAATCAGAAAAC -3'
(R):5'- CAAGACACATTGTGGGAAATTCTC -3'
Posted On 2017-06-26