Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02113:Snap47'

280232

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snap47

Ensembl Gene

ENSMUSG00000009894

Gene Name

synaptosomal-associated protein, 47

Synonyms

SNAP-47, 1110031B06Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02113

Quality Score

Status

Chromosome

Chromosomal Location

59407134-59451186 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 59428436 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 292 (I292S)

Ref Sequence

ENSEMBL: ENSMUSP00000113555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010038] [ENSMUST00000120940] [ENSMUST00000136436] [ENSMUST00000156146]

Predicted Effect

probably damaging
Transcript: ENSMUST00000010038
AA Change: I292S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000010038
Gene: ENSMUSG00000009894
AA Change: I292S

Domain	Start	End	E-Value	Type
coiled coil region	125	173	N/A	INTRINSIC
SCOP:d1fpza_	181	234	3e-3	SMART
low complexity region	335	349	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120940
AA Change: I292S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113555
Gene: ENSMUSG00000009894
AA Change: I292S

Domain	Start	End	E-Value	Type
coiled coil region	125	173	N/A	INTRINSIC
SCOP:d1fpza_	181	234	3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136436

SMART Domains

Protein: ENSMUSP00000115762
Gene: ENSMUSG00000009894

Domain	Start	End	E-Value	Type
coiled coil region	125	173	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156146

SMART Domains

Protein: ENSMUSP00000121880
Gene: ENSMUSG00000009894

Domain	Start	End	E-Value	Type
coiled coil region	125	173	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 122,110,478	H726L	possibly damaging	Het
Aqr	A	T	2: 114,120,027	Y900*	probably null	Het
Atp11a	G	T	8: 12,865,048	R1155S	probably benign	Het
Bahd1	A	G	2: 118,917,205	D435G	probably benign	Het
Brca2	A	G	5: 150,540,979	T1403A	possibly damaging	Het
Cc2d2a	T	A	5: 43,685,248		probably null	Het
Cog7	A	G	7: 121,925,480	I697T	probably damaging	Het
Dclre1a	A	G	19: 56,541,532	V791A	probably damaging	Het
Dgki	A	G	6: 36,913,625		probably benign	Het
Dpyd	A	G	3: 118,999,219	Y525C	probably benign	Het
Eepd1	T	C	9: 25,482,713	L91P	probably damaging	Het
Foxf1	T	A	8: 121,084,565	L56H	probably damaging	Het
Fry	A	T	5: 150,399,605	M1074L	probably benign	Het
Gbx1	T	C	5: 24,504,876	T324A	probably damaging	Het
Gfpt1	T	A	6: 87,087,367	N646K	probably benign	Het
Gm10258	C	T	3: 30,268,393		probably benign	Het
Gm12887	T	C	4: 121,616,495	M53V	probably benign	Het
Hoxa11	C	T	6: 52,245,317	G135S	probably damaging	Het
Mettl6	A	T	14: 31,482,831	Y211*	probably null	Het
Moxd2	T	C	6: 40,885,404	I160M	probably benign	Het
Mphosph10	G	A	7: 64,376,807		probably benign	Het
Mrpl19	T	A	6: 81,965,915	M5L	probably benign	Het
Nbea	A	G	3: 55,992,492	V1412A	probably benign	Het
Nceh1	G	T	3: 27,222,891	S121I	probably damaging	Het
Ntan1	A	G	16: 13,835,144	T217A	probably damaging	Het
Ogfod1	C	T	8: 94,064,213	A504V	probably damaging	Het
Olfr584	A	T	7: 103,085,850	I111L	possibly damaging	Het
Pde3b	G	A	7: 114,526,906	V792M	probably damaging	Het
Pde9a	A	T	17: 31,459,970	M262L	probably benign	Het
Pi4ka	A	G	16: 17,373,415	V206A	probably benign	Het
Pkp1	A	T	1: 135,883,914	N406K	possibly damaging	Het
Rcn3	A	G	7: 45,083,338	I302T	probably damaging	Het
Rfx6	A	G	10: 51,678,012	Q68R	probably benign	Het
Rpgrip1	A	G	14: 52,133,844	D340G	possibly damaging	Het
Scn10a	C	T	9: 119,609,890	G1638S	probably damaging	Het
Serpinb9f	A	T	13: 33,334,468	H317L	probably damaging	Het
Setdb2	C	T	14: 59,402,315	R709Q	probably damaging	Het
Slc40a1	A	G	1: 45,910,894	I466T	probably benign	Het
Smyd2	A	T	1: 189,882,217	S371R	probably damaging	Het
Tbx4	A	G	11: 85,912,264	E322G	possibly damaging	Het
Tg	A	G	15: 66,705,330	T1501A	probably benign	Het
Tmem259	A	G	10: 79,978,709	V300A	probably benign	Het
Usp7	A	G	16: 8,716,513		probably null	Het
Vmn2r94	G	T	17: 18,257,675	T158K	probably damaging	Het
Vmn2r95	G	T	17: 18,439,907	A194S	possibly damaging	Het
Zfp944	A	T	17: 22,339,066	I400N	possibly damaging	Het
Zmynd12	T	A	4: 119,433,997	I53K	probably damaging	Het

Other mutations in Snap47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01777:Snap47	APN	11	59421651	critical splice acceptor site	probably null
IGL03290:Snap47	APN	11	59428598	missense	probably damaging	1.00
R0126:Snap47	UTSW	11	59437987	missense	probably damaging	0.99
R0582:Snap47	UTSW	11	59428433	nonsense	probably null
R0633:Snap47	UTSW	11	59428613	missense	probably benign	0.25
R0883:Snap47	UTSW	11	59438500	utr 5 prime	probably benign
R1657:Snap47	UTSW	11	59428770	missense	probably benign	0.08
R1855:Snap47	UTSW	11	59428333	unclassified	probably benign
R2761:Snap47	UTSW	11	59438059	missense	probably benign	0.01
R4079:Snap47	UTSW	11	59428551	missense	probably benign	0.38
R4805:Snap47	UTSW	11	59428517	missense	possibly damaging	0.91
R4960:Snap47	UTSW	11	59428543	missense	probably damaging	1.00
R5212:Snap47	UTSW	11	59428352	missense	probably damaging	0.99
R5793:Snap47	UTSW	11	59438192	missense	probably damaging	1.00
R7243:Snap47	UTSW	11	59428722	missense	probably benign	0.04
R7603:Snap47	UTSW	11	59428547	missense	probably damaging	1.00
R7870:Snap47	UTSW	11	59438078	missense	probably benign	0.11
R7953:Snap47	UTSW	11	59438078	missense	probably benign	0.11
R8001:Snap47	UTSW	11	59438354	missense	probably benign	0.20

Posted On

2015-04-16