Mutagenetix > Incidental Mutation

Incidental Mutation 'R7215:Sncaip'

561426

Institutional Source

Beutler Lab

Gene Symbol

Sncaip

Ensembl Gene

ENSMUSG00000024534

Gene Name

synuclein, alpha interacting protein (synphilin)

Synonyms

synphilin-1, SYPH1, 4933427B05Rik

MMRRC Submission

045287-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R7215 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52900872-53049007 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 53040415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 870 (Q870*)

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 null
Transcript: ENSMUST00000025413
AA Change: Q870*

SMART Domains

Protein: ENSMUSP00000025413
Gene: ENSMUSG00000024534
AA Change: Q870*

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 null
Transcript: ENSMUST00000115410
AA Change: Q870*

SMART Domains

Protein: ENSMUSP00000111069
Gene: ENSMUSG00000024534
AA Change: Q870*

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 null
Transcript: ENSMUST00000163742
AA Change: Q870*

SMART Domains

Protein: ENSMUSP00000127189
Gene: ENSMUSG00000024534
AA Change: Q870*

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

probably null
Transcript: ENSMUST00000178011
AA Change: Q870*

SMART Domains

Protein: ENSMUSP00000137549
Gene: ENSMUSG00000024534
AA Change: Q870*

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 null
Transcript: ENSMUST00000178678
AA Change: Q870*

SMART Domains

Protein: ENSMUSP00000137367
Gene: ENSMUSG00000024534
AA Change: Q870*

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 null
Transcript: ENSMUST00000179625
AA Change: Q810*

SMART Domains

Protein: ENSMUSP00000136838
Gene: ENSMUSG00000024534
AA Change: Q810*

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 null
Transcript: ENSMUST00000179689
AA Change: Q458*

SMART Domains

Protein: ENSMUSP00000137107
Gene: ENSMUSG00000024534
AA Change: Q458*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (79/81)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	A	13: 77,471,690 (GRCm39)	V1032M	possibly damaging	Het
Abca13	T	A	11: 9,238,405 (GRCm39)		probably null	Het
Adamts14	T	A	10: 61,047,375 (GRCm39)	H739L	possibly damaging	Het
Adgrl3	A	G	5: 81,841,397 (GRCm39)	E758G	probably damaging	Het
Ano3	T	A	2: 110,496,277 (GRCm39)	T826S	probably damaging	Het
Arhgap45	C	T	10: 79,861,316 (GRCm39)	T493I	possibly damaging	Het
Atg9b	A	C	5: 24,593,039 (GRCm39)	W455G	probably damaging	Het
Atp4a	A	G	7: 30,416,785 (GRCm39)	N496S	possibly damaging	Het
Bckdk	T	A	7: 127,504,282 (GRCm39)	D60E	possibly damaging	Het
Blmh	A	T	11: 76,856,725 (GRCm39)	K244*	probably null	Het
Btbd17	T	C	11: 114,682,291 (GRCm39)	I474V	possibly damaging	Het
C87436	A	G	6: 86,439,662 (GRCm39)	E451G	possibly damaging	Het
Camta1	T	C	4: 151,229,194 (GRCm39)	E546G	probably damaging	Het
Casp1	A	G	9: 5,298,523 (GRCm39)		probably null	Het
Ccdc116	A	G	16: 16,957,792 (GRCm39)	Y456H	probably damaging	Het
Cep350	A	C	1: 155,770,453 (GRCm39)	S1812R	possibly damaging	Het
Chrna10	A	G	7: 101,761,415 (GRCm39)	L392P	possibly damaging	Het
Col22a1	A	T	15: 71,842,181 (GRCm39)	C434*	probably null	Het
Cxcl9	G	A	5: 92,471,747 (GRCm39)	Q98*	probably null	Het
Cyp2c54	G	A	19: 40,034,626 (GRCm39)	T348I	probably damaging	Het
Dnah7a	G	A	1: 53,657,509 (GRCm39)	R756C	probably damaging	Het
Dnajc18	T	C	18: 35,815,034 (GRCm39)	T239A	probably benign	Het
Dnase2a	A	T	8: 85,636,399 (GRCm39)		probably null	Het
Dpyd	A	G	3: 119,059,681 (GRCm39)	T793A	probably benign	Het
Edil3	T	C	13: 88,970,169 (GRCm39)		probably null	Het
Ehd1	T	A	19: 6,347,672 (GRCm39)	I342N	possibly damaging	Het
Erbb4	A	T	1: 68,378,619 (GRCm39)	S341T	probably benign	Het
Ezh1	T	A	11: 101,106,125 (GRCm39)	T87S	probably benign	Het
Fam20b	A	T	1: 156,518,123 (GRCm39)	W224R	probably damaging	Het
Galns	A	T	8: 123,326,087 (GRCm39)		probably null	Het
Gm13283	C	T	4: 88,678,967 (GRCm39)		probably benign	Het
Gm49342	A	T	14: 51,182,040 (GRCm39)	M23L	probably benign	Het
Gm5114	T	A	7: 39,060,795 (GRCm39)	H18L	probably benign	Het
Gpr89	A	G	3: 96,787,404 (GRCm39)	W299R	probably damaging	Het
Hadha	G	T	5: 30,324,840 (GRCm39)	N755K	probably benign	Het
Inpp5d	A	T	1: 87,628,940 (GRCm39)	H620L	probably benign	Het
Klk1b3	T	A	7: 43,849,828 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,401,097 (GRCm39)	T663A	probably damaging	Het
Man1b1	A	G	2: 25,240,402 (GRCm39)	N601S	probably benign	Het
Mbtps1	A	G	8: 120,251,307 (GRCm39)	V605A	possibly damaging	Het
Med23	C	G	10: 24,764,327 (GRCm39)	D311E	probably benign	Het
Myo3a	G	T	2: 22,250,378 (GRCm39)	D82Y	possibly damaging	Het
Nsd1	T	A	13: 55,395,454 (GRCm39)	D1121E	probably benign	Het
Odad1	C	T	7: 45,586,046 (GRCm39)	R148C	probably damaging	Het
Or4c116	G	A	2: 88,942,845 (GRCm39)	Q4*	probably null	Het
Or5al1	C	T	2: 85,989,800 (GRCm39)	V305I	probably benign	Het
Or8b3b	A	G	9: 38,584,743 (GRCm39)	I12T	probably benign	Het
Otoa	T	C	7: 120,717,795 (GRCm39)	V19A	unknown	Het
Pcdhb20	A	T	18: 37,638,439 (GRCm39)	T322S	probably benign	Het
Pecam1	T	C	11: 106,586,745 (GRCm39)	T257A	probably benign	Het
Pi16	G	T	17: 29,538,072 (GRCm39)		probably benign	Het
Pik3c2g	C	T	6: 139,700,589 (GRCm39)	T293M		Het
Pira13	C	T	7: 3,825,310 (GRCm39)	C444Y	unknown	Het
Pkhd1l1	T	A	15: 44,391,559 (GRCm39)	C1542S	possibly damaging	Het
Prrc2b	G	A	2: 32,119,309 (GRCm39)	G2172R	probably damaging	Het
Prrt1	A	T	17: 34,848,677 (GRCm39)		probably null	Het
Ptprb	T	A	10: 116,174,681 (GRCm39)	N784K	possibly damaging	Het
Rem1	C	A	2: 152,470,069 (GRCm39)	S18R	probably damaging	Het
Ripk4	G	A	16: 97,548,523 (GRCm39)		probably null	Het
Scn8a	G	A	15: 100,927,711 (GRCm39)	V1397I	possibly damaging	Het
Setbp1	T	A	18: 78,900,052 (GRCm39)	H1205L	probably damaging	Het
Shmt1	T	C	11: 60,692,361 (GRCm39)	I132V	probably damaging	Het
Slc24a1	T	A	9: 64,835,785 (GRCm39)	T781S	unknown	Het
Stab1	A	T	14: 30,882,754 (GRCm39)	N416K	possibly damaging	Het
Tcea1	A	G	1: 4,937,706 (GRCm39)	D26G	probably damaging	Het
Tcf20	A	T	15: 82,737,690 (GRCm39)	S1254T	probably benign	Het
Tead4	T	A	6: 128,205,641 (GRCm39)	I354F	probably damaging	Het
Tex36	G	A	7: 133,189,147 (GRCm39)	R142*	probably null	Het
Trav6d-3	T	A	14: 52,962,799 (GRCm39)	L12Q	probably damaging	Het
Trpc4	A	G	3: 54,102,317 (GRCm39)	T72A	possibly damaging	Het
Trrap	G	A	5: 144,733,945 (GRCm39)	A933T	probably benign	Het
Tspoap1	T	A	11: 87,661,315 (GRCm39)	I589N	probably benign	Het
Ttll5	T	A	12: 85,980,170 (GRCm39)	V918E	probably benign	Het
Tut4	T	C	4: 108,384,205 (GRCm39)	Y1091H	probably damaging	Het
Txn2	A	G	15: 77,811,886 (GRCm39)		probably null	Het
Ucn3	T	G	13: 3,991,365 (GRCm39)	T96P	probably benign	Het
Usp36	T	C	11: 118,155,980 (GRCm39)	E764G	possibly damaging	Het
Vmn2r23	A	T	6: 123,681,323 (GRCm39)	H77L	probably benign	Het
Vmn2r57	T	C	7: 41,049,710 (GRCm39)	T680A	probably benign	Het
Vwa3a	T	C	7: 120,394,853 (GRCm39)	I891T	possibly damaging	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	probably benign	Het
Zhx2	A	G	15: 57,687,039 (GRCm39)	I803V	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
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'- TGACCTTTGAGGAACCTGTCG -3'
(R):5'- AATTTCTGAATTTTGGGGTGACCTC -3'

Sequencing Primer
(F):5'- CTTTGAGGAACCTGTCGTACAAATGG -3'
(R):5'- GCCAGTAACCAGGGTTTTAAC -3'

Posted On

2019-06-26