Mutagenetix > Incidental Mutation

Incidental Mutation 'R6505:Sncaip'

523819

Institutional Source

Beutler Lab

Gene Symbol

Sncaip

Ensembl Gene

ENSMUSG00000024534

Gene Name

synuclein, alpha interacting protein (synphilin)

Synonyms

synphilin-1, SYPH1, 4933427B05Rik

MMRRC Submission

044637-MU

Accession Numbers

Essential gene?

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

Stock #

R6505 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52900872-53049007 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 53039609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 189 (S189*)

Ref Sequence

ENSEMBL: ENSMUSP00000137107 (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: S601*

SMART Domains

Protein: ENSMUSP00000025413
Gene: ENSMUSG00000024534
AA Change: S601*

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: S601*

SMART Domains

Protein: ENSMUSP00000111069
Gene: ENSMUSG00000024534
AA Change: S601*

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: S601*

SMART Domains

Protein: ENSMUSP00000127189
Gene: ENSMUSG00000024534
AA Change: S601*

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: S601*

SMART Domains

Protein: ENSMUSP00000137549
Gene: ENSMUSG00000024534
AA Change: S601*

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: S601*

SMART Domains

Protein: ENSMUSP00000137367
Gene: ENSMUSG00000024534
AA Change: S601*

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: S541*

SMART Domains

Protein: ENSMUSP00000136838
Gene: ENSMUSG00000024534
AA Change: S541*

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: S189*

SMART Domains

Protein: ENSMUSP00000137107
Gene: ENSMUSG00000024534
AA Change: S189*

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

0.9754

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (84/84)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	A	T	17: 9,220,772 (GRCm39)	I424L	probably benign	Het
2610028H24Rik	C	T	10: 76,285,115 (GRCm39)	A8V	probably benign	Het
Ago1	G	A	4: 126,357,628 (GRCm39)	P16S	probably benign	Het
Ak5	C	T	3: 152,187,306 (GRCm39)	E394K	probably benign	Het
Aldh7a1	T	C	18: 56,660,068 (GRCm39)	Y498C	probably damaging	Het
Alox12	T	A	11: 70,141,030 (GRCm39)	D335V	probably damaging	Het
Alx4	A	T	2: 93,498,904 (GRCm39)	Y212F	probably damaging	Het
Asb16	A	G	11: 102,167,303 (GRCm39)	E223G	probably damaging	Het
Atg9b	C	T	5: 24,595,575 (GRCm39)	V235M	probably damaging	Het
BB014433	A	G	8: 15,092,304 (GRCm39)	V183A	probably benign	Het
Brca1	T	A	11: 101,414,367 (GRCm39)	M1256L	probably benign	Het
Bst1	A	G	5: 43,977,932 (GRCm39)	I94V	probably benign	Het
C3ar1	A	G	6: 122,827,599 (GRCm39)	L206P	probably benign	Het
Cabs1	T	A	5: 88,128,522 (GRCm39)	M391K	possibly damaging	Het
Cars1	C	T	7: 143,118,744 (GRCm39)	R599Q	probably damaging	Het
Ccdc190	T	A	1: 169,760,592 (GRCm39)	Y73*	probably null	Het
Cd177	A	C	7: 24,443,671 (GRCm39)	L809W	probably benign	Het
Cemip	C	A	7: 83,600,805 (GRCm39)	G939*	probably null	Het
Clca3b	T	A	3: 144,531,020 (GRCm39)	I777F	probably benign	Het
Cma2	T	C	14: 56,211,236 (GRCm39)	I176T	probably damaging	Het
Col12a1	T	A	9: 79,554,887 (GRCm39)	T2064S	probably damaging	Het
Csf1r	A	G	18: 61,262,805 (GRCm39)	N860S	probably damaging	Het
Dab1	T	A	4: 104,369,461 (GRCm39)	C3S	probably benign	Het
Dennd4b	A	G	3: 90,174,918 (GRCm39)	E50G	probably damaging	Het
Dis3l	A	T	9: 64,214,795 (GRCm39)	S925T	probably benign	Het
Disp1	T	C	1: 182,868,076 (GRCm39)	N1448S	probably benign	Het
Dpp10	T	C	1: 123,264,580 (GRCm39)	I747M	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Ephx4	A	T	5: 107,551,522 (GRCm39)	K36*	probably null	Het
Fam135a	C	T	1: 24,053,953 (GRCm39)	V1195I	probably damaging	Het
Fap	A	T	2: 62,376,947 (GRCm39)	Y234*	probably null	Het
Fem1c	A	T	18: 46,638,942 (GRCm39)	N353K	possibly damaging	Het
Furin	C	A	7: 80,043,365 (GRCm39)	R282L	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm5930	A	G	14: 44,568,828 (GRCm39)	*265Q	probably null	Het
Hcrtr1	T	A	4: 130,031,379 (GRCm39)	T15S	probably benign	Het
Ifnar1	C	T	16: 91,296,425 (GRCm39)	Q309*	probably null	Het
Il18r1	A	T	1: 40,528,867 (GRCm39)	I304L	probably benign	Het
Ino80	A	T	2: 119,281,922 (GRCm39)	Y185N	probably damaging	Het
Itgb2	G	A	10: 77,395,507 (GRCm39)	C536Y	probably damaging	Het
Ivns1abp	T	C	1: 151,236,744 (GRCm39)	M435T	probably benign	Het
Kcnh4	T	C	11: 100,647,911 (GRCm39)	N151D	probably benign	Het
Lama3	T	C	18: 12,628,405 (GRCm39)	M1499T	probably benign	Het
Lamb1	A	T	12: 31,373,461 (GRCm39)	T1397S	possibly damaging	Het
Leng1	G	A	7: 3,664,211 (GRCm39)	R239*	probably null	Het
Map2k4	A	T	11: 65,584,355 (GRCm39)	N309K	possibly damaging	Het
Mcm3	A	G	1: 20,873,768 (GRCm39)	F784S	probably damaging	Het
Mrgpra9	T	A	7: 46,884,884 (GRCm39)	N260I	probably benign	Het
Mrnip	C	A	11: 50,090,679 (GRCm39)	T281N	possibly damaging	Het
Myo9b	A	G	8: 71,808,501 (GRCm39)	T1715A	possibly damaging	Het
Nectin3	A	G	16: 46,269,184 (GRCm39)	I406T	possibly damaging	Het
Neto1	A	G	18: 86,516,699 (GRCm39)	T339A	possibly damaging	Het
Ntn1	T	C	11: 68,104,025 (GRCm39)	D541G	probably damaging	Het
Nuak2	C	A	1: 132,244,132 (GRCm39)	H55Q	probably damaging	Het
Nufip2	A	G	11: 77,582,439 (GRCm39)	T118A	probably benign	Het
Or11i1	T	G	3: 106,729,638 (GRCm39)	N79T	possibly damaging	Het
Or12e7	T	A	2: 87,288,271 (GRCm39)	V254E	probably damaging	Het
Or51af1	T	A	7: 103,141,858 (GRCm39)	T76S	probably damaging	Het
Or52e19	C	A	7: 102,959,000 (GRCm39)	A24D	probably benign	Het
Or5d16	A	T	2: 87,773,518 (GRCm39)	Y151*	probably null	Het
Or5p59	T	C	7: 107,702,774 (GRCm39)	V86A	probably benign	Het
Or6d13	C	T	6: 116,517,561 (GRCm39)	T49M	probably benign	Het
Or7a40	A	T	16: 16,491,784 (GRCm39)	D20E	probably benign	Het
Or7g29	T	C	9: 19,286,237 (GRCm39)	*313W	probably null	Het
Pcdhb5	T	A	18: 37,453,933 (GRCm39)	H104Q	probably benign	Het
Phf11a	T	C	14: 59,514,986 (GRCm39)	R232G	probably damaging	Het
Pik3r5	C	T	11: 68,383,615 (GRCm39)	T478I	probably benign	Het
Prkacb	T	A	3: 146,438,401 (GRCm39)	E380V	probably damaging	Het
Prl7c1	G	T	13: 27,957,776 (GRCm39)	D221E	probably damaging	Het
Prr11	T	A	11: 86,996,950 (GRCm39)	K5*	probably null	Het
Prrc2b	G	A	2: 32,112,332 (GRCm39)	G1932D	probably damaging	Het
Rexo1	A	T	10: 80,378,845 (GRCm39)	Y1064N	possibly damaging	Het
Rnf182	C	T	13: 43,822,147 (GRCm39)	Q233*	probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Sash1	C	G	10: 8,605,291 (GRCm39)	G1033A	probably benign	Het
Sorl1	T	C	9: 41,982,530 (GRCm39)	Y350C	probably damaging	Het
Speg	T	C	1: 75,383,328 (GRCm39)	V1141A	possibly damaging	Het
Speg	C	A	1: 75,406,167 (GRCm39)	D3091E	possibly damaging	Het
Sucnr1	A	T	3: 59,994,144 (GRCm39)	D224V	probably benign	Het
Tg	G	A	15: 66,631,407 (GRCm39)	A559T	probably damaging	Het
Tmem132d	A	G	5: 127,861,502 (GRCm39)	I873T	probably benign	Het
Tmem229a	C	T	6: 24,954,920 (GRCm39)	C278Y	probably damaging	Het
Togaram1	T	C	12: 65,013,364 (GRCm39)	I205T	possibly damaging	Het
Usp19	T	A	9: 108,374,082 (GRCm39)	L713Q	probably damaging	Het
Vsig10	A	G	5: 117,489,824 (GRCm39)	D530G	possibly damaging	Het
Zfp106	A	G	2: 120,364,983 (GRCm39)	S475P	probably damaging	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
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'- CATATCAAAGGCTATGCAAGGTC -3'
(R):5'- CTCAGTCTGGCTAGCTTCAG -3'

Sequencing Primer
(F):5'- TCAAAGGCTATGCAAGGTCTTATGG -3'
(R):5'- AGTCTGGCTAGCTTCAGTTCCC -3'

Posted On

2018-06-22