Mutagenetix > Incidental Mutations

Incidental Mutation 'R7234:Sncaip'

562731

Institutional Source

Beutler Lab

Gene Symbol

Sncaip

Ensembl Gene

ENSMUSG00000024534

Gene Name

synuclein, alpha interacting protein (synphilin)

Synonyms

synphilin-1, 4933427B05Rik, SYPH1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R7234 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52767709-52915935 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 52915344 bp

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]

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

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: ENSMUST00000115410

SMART Domains

Protein: ENSMUSP00000111069
Gene: ENSMUSG00000024534

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: ENSMUST00000163742

SMART Domains

Protein: ENSMUSP00000127189
Gene: ENSMUSG00000024534

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 benign
Transcript: ENSMUST00000178011

SMART Domains

Protein: ENSMUSP00000137549
Gene: ENSMUSG00000024534

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: ENSMUST00000178678
AA Change: H951Y

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000137367
Gene: ENSMUSG00000024534
AA Change: H951Y

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 benign
Transcript: ENSMUST00000179625

SMART Domains

Protein: ENSMUSP00000136838
Gene: ENSMUSG00000024534

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: 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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Acy3	T	A	19: 3,987,758	Y88*	probably null	Het
AI606181	T	A	19: 41,593,637	I82N	unknown	Het
Akap1	T	C	11: 88,838,982	Y638C	probably damaging	Het
Angpt1	T	C	15: 42,459,725	N383D	probably benign	Het
Ank	T	C	15: 27,571,656		probably null	Het
Aoc1	C	T	6: 48,905,816	Q209*	probably null	Het
Apol7c	A	T	15: 77,525,675	L357*	probably null	Het
Atxn2l	A	G	7: 126,493,201	L958P	probably damaging	Het
Cab39l	T	A	14: 59,496,946		probably null	Het
Cdk5rap2	A	G	4: 70,376,787		probably null	Het
Cdkn3	T	C	14: 46,771,461	S204P	unknown	Het
Cds2	T	C	2: 132,304,480		probably null	Het
Cideb	C	T	14: 55,754,560	R179H	probably benign	Het
Cped1	A	G	6: 22,254,626	Q1006R	probably damaging	Het
Csmd2	A	G	4: 128,456,779	Y1547C		Het
Dicer1	A	G	12: 104,708,849	L718S	probably damaging	Het
Dyrk2	T	C	10: 118,860,231	H374R	possibly damaging	Het
Edem2	A	T	2: 155,710,966	Y283N	probably benign	Het
Ero1lb	A	T	13: 12,600,314	S345C	possibly damaging	Het
Fam83g	T	C	11: 61,702,516	V292A	possibly damaging	Het
Farp2	A	G	1: 93,580,119	D513G	possibly damaging	Het
Fbxl5	A	G	5: 43,758,220	W617R	probably benign	Het
Fzd7	G	A	1: 59,483,284	V109M	probably damaging	Het
Gbp5	A	T	3: 142,521,137	H583L	probably benign	Het
Gm10306	T	A	4: 94,556,795	L84M	unknown	Het
Gm11756	G	T	4: 73,917,571	L219M	probably benign	Het
Gsap	A	G	5: 21,186,435	T25A	probably benign	Het
Hectd4	G	T	5: 121,329,073	R2466L	possibly damaging	Het
Ide	C	A	19: 37,290,785	C557F		Het
Igdcc4	T	A	9: 65,135,468	C1234*	probably null	Het
Ints4	A	G	7: 97,530,300	I701V	probably benign	Het
Kalrn	T	A	16: 34,176,422	I1467F	possibly damaging	Het
Kcnip3	C	A	2: 127,521,336	R2M	unknown	Het
Kcnrg	A	T	14: 61,608,082	E190D	unknown	Het
Klk13	T	C	7: 43,721,417	L131P	probably damaging	Het
Lhcgr	A	T	17: 88,791,931	L14Q	possibly damaging	Het
Mdm4	A	T	1: 133,011,115	D80E	probably damaging	Het
Mib2	G	T	4: 155,657,893	Q311K	probably damaging	Het
Mycbp2	A	T	14: 103,215,337	S1703T	probably damaging	Het
Naip6	A	T	13: 100,315,503	C200*	probably null	Het
Ncapd3	T	A	9: 27,050,359	I361N	probably damaging	Het
Nom1	A	G	5: 29,435,453	E259G	probably benign	Het
Olfr16	T	A	1: 172,957,106	F104I	probably damaging	Het
Olfr620	A	G	7: 103,611,882	L157P	probably damaging	Het
Plxna2	A	T	1: 194,806,390	H1658L	probably damaging	Het
Ranbp6	T	C	19: 29,812,062	T297A	possibly damaging	Het
Rap1gap	T	A	4: 137,728,540	C722*	probably null	Het
Ribc2	A	G	15: 85,135,532	K172E	probably benign	Het
Scamp5	C	A	9: 57,447,140	W77L	probably damaging	Het
Scin	T	A	12: 40,080,958	K319*	probably null	Het
Sec16a	G	T	2: 26,439,768	T745K	probably damaging	Het
Slc15a2	G	A	16: 36,757,811	A403V	probably benign	Het
Slco6c1	A	G	1: 97,125,741	V145A	probably benign	Het
Spem1	A	G	11: 69,821,804		probably null	Het
Spen	C	T	4: 141,479,135	R727Q	unknown	Het
Thra	T	C	11: 98,763,718	S305P	probably damaging	Het
Tlr1	A	G	5: 64,926,724	V170A	probably damaging	Het
Tmem260	T	A	14: 48,505,329	C388*	probably null	Het
Tmem60	T	A	5: 20,886,621	V128D	possibly damaging	Het
Tpo	G	A	12: 30,092,686	P680S	probably benign	Het
Ttc30a2	A	T	2: 75,976,196	Y657*	probably null	Het
Umodl1	A	G	17: 30,986,621	E730G	possibly damaging	Het
Vmn2r69	T	C	7: 85,407,107	T608A	probably benign	Het
Xrra1	G	A	7: 99,914,249	S481N	possibly damaging	Het
Zc3h4	G	A	7: 16,429,036	V446I	unknown	Het

Other mutations in Sncaip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Sncaip	APN	18	52884963	splice site	probably null
IGL01554:Sncaip	APN	18	52868934	missense	possibly damaging	0.94
IGL01802:Sncaip	APN	18	52869037	missense	probably damaging	1.00
IGL02658:Sncaip	APN	18	52894955	missense	possibly damaging	0.50
IGL02737:Sncaip	APN	18	52907056	missense	probably benign	0.10
IGL03017:Sncaip	APN	18	52894937	missense	possibly damaging	0.82
PIT4445001:Sncaip	UTSW	18	52868944	missense	probably damaging	1.00
R0218:Sncaip	UTSW	18	52907328	missense	probably benign	0.18
R0325:Sncaip	UTSW	18	52905809	missense	probably damaging	1.00
R0450:Sncaip	UTSW	18	52868709	missense	probably benign	0.08
R0469:Sncaip	UTSW	18	52868709	missense	probably benign	0.08
R1494:Sncaip	UTSW	18	52868886	missense	probably damaging	0.99
R1897:Sncaip	UTSW	18	52894790	splice site	probably null
R1962:Sncaip	UTSW	18	52871362	missense	probably damaging	1.00
R2238:Sncaip	UTSW	18	52868547	missense	probably damaging	1.00
R2935:Sncaip	UTSW	18	52838032	missense	probably damaging	1.00
R4044:Sncaip	UTSW	18	52907403	missense	probably benign	0.01
R4694:Sncaip	UTSW	18	52906557	missense	probably benign	0.00
R4810:Sncaip	UTSW	18	52907199	missense	possibly damaging	0.47
R4850:Sncaip	UTSW	18	52871384	missense	probably damaging	1.00
R4857:Sncaip	UTSW	18	52869225	missense	probably benign	0.00
R4939:Sncaip	UTSW	18	52907263	missense	possibly damaging	0.53
R5384:Sncaip	UTSW	18	52885041	missense	probably damaging	1.00
R5610:Sncaip	UTSW	18	52868919	missense	probably benign
R5645:Sncaip	UTSW	18	52894956	missense	probably damaging	1.00
R5797:Sncaip	UTSW	18	52898204	missense	probably benign	0.28
R5977:Sncaip	UTSW	18	52869321	missense	probably benign
R6197:Sncaip	UTSW	18	52906894	missense	probably damaging	1.00
R6369:Sncaip	UTSW	18	52868604	missense	probably damaging	0.98
R6505:Sncaip	UTSW	18	52906537	nonsense	probably null
R6604:Sncaip	UTSW	18	52905846	missense	possibly damaging	0.71
R6880:Sncaip	UTSW	18	52869064	missense	probably damaging	1.00
R7215:Sncaip	UTSW	18	52907343	nonsense	probably null
R8523:Sncaip	UTSW	18	52838016	missense	probably damaging	1.00
Z1177:Sncaip	UTSW	18	52907425	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