Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02113

Quality Score

Status

Chromosome

Chromosomal Location

59297967-59340868 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 59319262 bp (GRCm39)

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]

AlphaFold

Q8R570

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: 121,904,127 (GRCm39)	H726L	possibly damaging	Het
Aqr	A	T	2: 113,950,508 (GRCm39)	Y900*	probably null	Het
Atp11a	G	T	8: 12,915,048 (GRCm39)	R1155S	probably benign	Het
Bahd1	A	G	2: 118,747,686 (GRCm39)	D435G	probably benign	Het
Brca2	A	G	5: 150,464,444 (GRCm39)	T1403A	possibly damaging	Het
Cc2d2a	T	A	5: 43,842,590 (GRCm39)		probably null	Het
Cog7	A	G	7: 121,524,703 (GRCm39)	I697T	probably damaging	Het
Dclre1a	A	G	19: 56,529,964 (GRCm39)	V791A	probably damaging	Het
Dgki	A	G	6: 36,890,560 (GRCm39)		probably benign	Het
Dpyd	A	G	3: 118,792,868 (GRCm39)	Y525C	probably benign	Het
Eepd1	T	C	9: 25,394,009 (GRCm39)	L91P	probably damaging	Het
Foxf1	T	A	8: 121,811,304 (GRCm39)	L56H	probably damaging	Het
Fry	A	T	5: 150,323,070 (GRCm39)	M1074L	probably benign	Het
Gbx1	T	C	5: 24,709,874 (GRCm39)	T324A	probably damaging	Het
Gfpt1	T	A	6: 87,064,349 (GRCm39)	N646K	probably benign	Het
Gm10258	C	T	3: 30,322,542 (GRCm39)		probably benign	Het
Gm12887	T	C	4: 121,473,692 (GRCm39)	M53V	probably benign	Het
Hoxa11	C	T	6: 52,222,297 (GRCm39)	G135S	probably damaging	Het
Mettl6	A	T	14: 31,204,788 (GRCm39)	Y211*	probably null	Het
Moxd2	T	C	6: 40,862,338 (GRCm39)	I160M	probably benign	Het
Mphosph10	G	A	7: 64,026,555 (GRCm39)		probably benign	Het
Mrpl19	T	A	6: 81,942,896 (GRCm39)	M5L	probably benign	Het
Nbea	A	G	3: 55,899,913 (GRCm39)	V1412A	probably benign	Het
Nceh1	G	T	3: 27,277,040 (GRCm39)	S121I	probably damaging	Het
Ntan1	A	G	16: 13,653,008 (GRCm39)	T217A	probably damaging	Het
Ogfod1	C	T	8: 94,790,841 (GRCm39)	A504V	probably damaging	Het
Or52r1c	A	T	7: 102,735,057 (GRCm39)	I111L	possibly damaging	Het
Pde3b	G	A	7: 114,126,141 (GRCm39)	V792M	probably damaging	Het
Pde9a	A	T	17: 31,678,944 (GRCm39)	M262L	probably benign	Het
Pi4ka	A	G	16: 17,191,279 (GRCm39)	V206A	probably benign	Het
Pkp1	A	T	1: 135,811,652 (GRCm39)	N406K	possibly damaging	Het
Rcn3	A	G	7: 44,732,762 (GRCm39)	I302T	probably damaging	Het
Rfx6	A	G	10: 51,554,108 (GRCm39)	Q68R	probably benign	Het
Rpgrip1	A	G	14: 52,371,301 (GRCm39)	D340G	possibly damaging	Het
Scn10a	C	T	9: 119,438,956 (GRCm39)	G1638S	probably damaging	Het
Serpinb9f	A	T	13: 33,518,451 (GRCm39)	H317L	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Slc40a1	A	G	1: 45,950,054 (GRCm39)	I466T	probably benign	Het
Smyd2	A	T	1: 189,614,414 (GRCm39)	S371R	probably damaging	Het
Tbx4	A	G	11: 85,803,090 (GRCm39)	E322G	possibly damaging	Het
Tg	A	G	15: 66,577,179 (GRCm39)	T1501A	probably benign	Het
Tmem259	A	G	10: 79,814,543 (GRCm39)	V300A	probably benign	Het
Usp7	A	G	16: 8,534,377 (GRCm39)		probably null	Het
Vmn2r94	G	T	17: 18,477,937 (GRCm39)	T158K	probably damaging	Het
Vmn2r95	G	T	17: 18,660,169 (GRCm39)	A194S	possibly damaging	Het
Zfp944	A	T	17: 22,558,047 (GRCm39)	I400N	possibly damaging	Het
Zmynd12	T	A	4: 119,291,194 (GRCm39)	I53K	probably damaging	Het

Other mutations in Snap47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01777:Snap47	APN	11	59,312,477 (GRCm39)	critical splice acceptor site	probably null
IGL03290:Snap47	APN	11	59,319,424 (GRCm39)	missense	probably damaging	1.00
R0126:Snap47	UTSW	11	59,328,813 (GRCm39)	missense	probably damaging	0.99
R0582:Snap47	UTSW	11	59,319,259 (GRCm39)	nonsense	probably null
R0633:Snap47	UTSW	11	59,319,439 (GRCm39)	missense	probably benign	0.25
R0883:Snap47	UTSW	11	59,329,326 (GRCm39)	utr 5 prime	probably benign
R1657:Snap47	UTSW	11	59,319,596 (GRCm39)	missense	probably benign	0.08
R1855:Snap47	UTSW	11	59,319,159 (GRCm39)	unclassified	probably benign
R2761:Snap47	UTSW	11	59,328,885 (GRCm39)	missense	probably benign	0.01
R4079:Snap47	UTSW	11	59,319,377 (GRCm39)	missense	probably benign	0.38
R4805:Snap47	UTSW	11	59,319,343 (GRCm39)	missense	possibly damaging	0.91
R4960:Snap47	UTSW	11	59,319,369 (GRCm39)	missense	probably damaging	1.00
R5212:Snap47	UTSW	11	59,319,178 (GRCm39)	missense	probably damaging	0.99
R5793:Snap47	UTSW	11	59,329,018 (GRCm39)	missense	probably damaging	1.00
R7243:Snap47	UTSW	11	59,319,548 (GRCm39)	missense	probably benign	0.04
R7603:Snap47	UTSW	11	59,319,373 (GRCm39)	missense	probably damaging	1.00
R7870:Snap47	UTSW	11	59,328,904 (GRCm39)	missense	probably benign	0.11
R8001:Snap47	UTSW	11	59,329,180 (GRCm39)	missense	probably benign	0.20
R9156:Snap47	UTSW	11	59,319,290 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16