Mutagenetix > Incidental Mutations

Incidental Mutation 'R0126:Snap47'

21391

Institutional Source

Beutler Lab

Gene Symbol

Snap47

Ensembl Gene

ENSMUSG00000009894

Gene Name

synaptosomal-associated protein, 47

Synonyms

SNAP-47, 1110031B06Rik

MMRRC Submission

038411-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0126 (G1)

Quality Score

179

Status

Validated (trace)

Chromosome

Chromosomal Location

59407134-59451186 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59437987 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 163 (V163A)

Ref Sequence

ENSEMBL: ENSMUSP00000121880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010038] [ENSMUST00000120940] [ENSMUST00000125846] [ENSMUST00000132969] [ENSMUST00000136436] [ENSMUST00000145550] [ENSMUST00000150297] [ENSMUST00000156146]

AlphaFold

Q8R570

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010038
AA Change: V163A

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000010038
Gene: ENSMUSG00000009894
AA Change: V163A

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

possibly damaging
Transcript: ENSMUST00000120940
AA Change: V163A

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113555
Gene: ENSMUSG00000009894
AA Change: V163A

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: ENSMUST00000125846

Predicted Effect

probably benign
Transcript: ENSMUST00000132969

SMART Domains

Protein: ENSMUSP00000116170
Gene: ENSMUSG00000009894

Domain	Start	End	E-Value	Type
coiled coil region	125	147	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000136436
AA Change: V163A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000115762
Gene: ENSMUSG00000009894
AA Change: V163A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145550

Predicted Effect

probably benign
Transcript: ENSMUST00000150297

Predicted Effect

probably damaging
Transcript: ENSMUST00000156146
AA Change: V163A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121880
Gene: ENSMUSG00000009894
AA Change: V163A

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

Meta Mutation Damage Score

0.0774

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 93.2%
20x: 81.8%

Validation Efficiency

98% (102/104)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	T	C	2: 25,443,730	L1730P	possibly damaging	Het
Adam9	T	C	8: 24,970,737	N577S	probably damaging	Het
Add1	T	C	5: 34,613,579	Y316H	probably benign	Het
Agpat3	T	C	10: 78,278,056	D266G	probably null	Het
Aldh3a2	C	A	11: 61,224,558	Q524H	probably benign	Het
Alox12b	A	C	11: 69,167,471	S550R	probably benign	Het
Ano4	T	A	10: 88,952,292	I753F	possibly damaging	Het
AW011738	T	A	4: 156,203,647		probably benign	Het
B4galt3	C	T	1: 171,276,165	T103M	probably damaging	Het
Cabs1	C	T	5: 87,980,195	T235I	probably damaging	Het
Casc4	T	C	2: 121,906,084		probably benign	Het
Casq2	A	G	3: 102,133,399	H272R	probably damaging	Het
Ccdc180	T	C	4: 45,912,866		probably null	Het
Cdh12	A	T	15: 21,583,945	M624L	probably benign	Het
Cdh5	A	C	8: 104,140,682		probably null	Het
Col7a1	A	G	9: 108,969,583		probably benign	Het
Cpne2	A	T	8: 94,554,933	I199F	probably damaging	Het
Crebbp	A	T	16: 4,084,063	F2399L	possibly damaging	Het
Defb36	T	C	2: 152,612,579	C53R	probably damaging	Het
Degs1	T	C	1: 182,279,692	M1V	probably null	Het
Disp2	T	A	2: 118,790,338	F517Y	probably damaging	Het
Dnah5	A	G	15: 28,246,319	D601G	probably benign	Het
Dnpep	G	A	1: 75,312,538	Q310*	probably null	Het
Dsg1a	A	G	18: 20,340,878	T1003A	probably benign	Het
Fbrsl1	C	G	5: 110,396,040		probably benign	Het
Foxh1	A	T	15: 76,669,254	L116H	probably damaging	Het
Gigyf2	G	A	1: 87,411,875		probably benign	Het
Gp1ba	A	T	11: 70,641,033		probably benign	Het
Gucy1b1	A	G	3: 82,037,911		probably benign	Het
Gucy2g	T	G	19: 55,241,166	D24A	probably benign	Het
Hirip3	A	G	7: 126,863,442	K190R	probably damaging	Het
Hmmr	T	C	11: 40,705,954	N717D	probably damaging	Het
Il12b	A	T	11: 44,410,218	Y187F	probably damaging	Het
Iqgap1	A	G	7: 80,738,322	I859T	probably benign	Het
Jmjd1c	T	C	10: 67,219,326	L175P	probably damaging	Het
Klc2	T	C	19: 5,112,746	M242V	possibly damaging	Het
Klf3	T	C	5: 64,822,103	M96T	probably benign	Het
Lrrc66	G	T	5: 73,607,088	H871N	probably benign	Het
Ltn1	A	T	16: 87,425,640	D168E	probably benign	Het
Mak	T	C	13: 41,032,596	D532G	probably damaging	Het
March6	A	G	15: 31,462,005	M859T	probably benign	Het
Mlxipl	C	A	5: 135,132,323	N365K	probably damaging	Het
Mplkip	T	C	13: 17,695,752	S90P	possibly damaging	Het
Myo5c	A	T	9: 75,269,525	H584L	probably benign	Het
Myt1l	A	G	12: 29,851,720	T228A	possibly damaging	Het
Nxpe3	A	T	16: 55,866,229	Y139N	possibly damaging	Het
Olfr1090	T	A	2: 86,754,637	I34L	probably damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr568	A	G	7: 102,877,140	T7A	probably benign	Het
Pak6	C	T	2: 118,690,332	S268F	possibly damaging	Het
Parp10	G	A	15: 76,243,066	A57V	probably damaging	Het
Pik3r3	T	A	4: 116,256,268	D69E	probably damaging	Het
Polr2a	T	G	11: 69,747,425	K105T	probably damaging	Het
Prdm16	A	T	4: 154,328,838		probably benign	Het
Prepl	G	A	17: 85,083,242	T96I	probably benign	Het
Ret	C	T	6: 118,165,995		probably benign	Het
Rgl3	A	T	9: 21,975,812	D541E	probably benign	Het
Rpa1	A	C	11: 75,318,529	Y143D	probably benign	Het
Rps16	T	A	7: 28,351,083	L47Q	probably damaging	Het
Sbno2	A	T	10: 80,068,853		probably null	Het
Scube1	A	T	15: 83,621,063	N385K	probably damaging	Het
Shank2	A	G	7: 144,031,355	E31G	probably damaging	Het
Slc38a9	G	T	13: 112,729,257	C496F	possibly damaging	Het
Sntg2	T	C	12: 30,201,261		probably benign	Het
Sp7	C	A	15: 102,358,460	V322F	probably damaging	Het
Spic	T	C	10: 88,676,062	K111E	probably damaging	Het
Sqor	T	C	2: 122,798,027		probably benign	Het
St6galnac1	T	A	11: 116,766,584	M385L	probably benign	Het
Synpo2	A	T	3: 123,079,862	S1211T	possibly damaging	Het
Sytl2	T	A	7: 90,396,589	V638E	probably damaging	Het
Taar1	T	A	10: 23,920,547	S48T	probably benign	Het
Tbx18	T	A	9: 87,729,653	D108V	possibly damaging	Het
Tdh	C	T	14: 63,497,593		probably benign	Het
Tldc1	T	C	8: 119,762,350	D398G	possibly damaging	Het
Tlr9	T	A	9: 106,225,682	L724Q	probably benign	Het
Tmem270	T	A	5: 134,902,788	Y100F	probably benign	Het
Trim65	G	C	11: 116,124,604		probably benign	Het
Trrap	A	T	5: 144,805,750	K1393*	probably null	Het
Ttc13	A	G	8: 124,683,291	V523A	probably damaging	Het
Utrn	T	A	10: 12,711,475	D939V	probably benign	Het
Vmn1r46	G	T	6: 89,976,953	M261I	probably benign	Het
Vwa5a	A	G	9: 38,737,807		probably null	Het
Zfp108	A	T	7: 24,260,724	T247S	probably benign	Het
Zfp366	A	T	13: 99,228,621	I97F	probably benign	Het
Zfp986	C	T	4: 145,898,943	R58C	probably benign	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
IGL02113:Snap47	APN	11	59428436	missense	probably damaging	0.99
IGL03290:Snap47	APN	11	59428598	missense	probably damaging	1.00
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
R8001:Snap47	UTSW	11	59438354	missense	probably benign	0.20
R9156:Snap47	UTSW	11	59428464	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATGGTGACAGGCAATGTCTCTC -3'
(R):5'- TTTATCTTCGGTGCGATCACAGTCC -3'

Sequencing Primer
(F):5'- TCTCTGGGATGAGTCCCACATAG -3'
(R):5'- CGAAATGTGGTCTTCAACGTC -3'

Posted On

2013-04-11