Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0126 (G1)

Quality Score

179

Status

Validated (trace)

Chromosome

Chromosomal Location

59297967-59340868 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59328813 bp (GRCm39)

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: 25,333,742 (GRCm39)	L1730P	possibly damaging	Het
Adam9	T	C	8: 25,460,753 (GRCm39)	N577S	probably damaging	Het
Add1	T	C	5: 34,770,923 (GRCm39)	Y316H	probably benign	Het
Agpat3	T	C	10: 78,113,890 (GRCm39)	D266G	probably null	Het
Aldh3a2	C	A	11: 61,115,384 (GRCm39)	Q524H	probably benign	Het
Alox12b	A	C	11: 69,058,297 (GRCm39)	S550R	probably benign	Het
Ano4	T	A	10: 88,788,154 (GRCm39)	I753F	possibly damaging	Het
AW011738	T	A	4: 156,288,104 (GRCm39)		probably benign	Het
B4galt3	C	T	1: 171,103,738 (GRCm39)	T103M	probably damaging	Het
Cabs1	C	T	5: 88,128,054 (GRCm39)	T235I	probably damaging	Het
Casq2	A	G	3: 102,040,715 (GRCm39)	H272R	probably damaging	Het
Ccdc180	T	C	4: 45,912,866 (GRCm39)		probably null	Het
Cdh12	A	T	15: 21,584,031 (GRCm39)	M624L	probably benign	Het
Cdh5	A	C	8: 104,867,314 (GRCm39)		probably null	Het
Col7a1	A	G	9: 108,798,651 (GRCm39)		probably benign	Het
Cpne2	A	T	8: 95,281,561 (GRCm39)	I199F	probably damaging	Het
Crebbp	A	T	16: 3,901,927 (GRCm39)	F2399L	possibly damaging	Het
Defb36	T	C	2: 152,454,499 (GRCm39)	C53R	probably damaging	Het
Degs1	T	C	1: 182,107,257 (GRCm39)	M1V	probably null	Het
Disp2	T	A	2: 118,620,819 (GRCm39)	F517Y	probably damaging	Het
Dnah5	A	G	15: 28,246,465 (GRCm39)	D601G	probably benign	Het
Dnpep	G	A	1: 75,289,182 (GRCm39)	Q310*	probably null	Het
Dsg1a	A	G	18: 20,473,935 (GRCm39)	T1003A	probably benign	Het
Fbrsl1	C	G	5: 110,543,906 (GRCm39)		probably benign	Het
Foxh1	A	T	15: 76,553,454 (GRCm39)	L116H	probably damaging	Het
Gigyf2	G	A	1: 87,339,597 (GRCm39)		probably benign	Het
Golm2	T	C	2: 121,736,565 (GRCm39)		probably benign	Het
Gp1ba	A	T	11: 70,531,859 (GRCm39)		probably benign	Het
Gucy1b1	A	G	3: 81,945,218 (GRCm39)		probably benign	Het
Gucy2g	T	G	19: 55,229,598 (GRCm39)	D24A	probably benign	Het
Hirip3	A	G	7: 126,462,614 (GRCm39)	K190R	probably damaging	Het
Hmmr	T	C	11: 40,596,781 (GRCm39)	N717D	probably damaging	Het
Il12b	A	T	11: 44,301,045 (GRCm39)	Y187F	probably damaging	Het
Iqgap1	A	G	7: 80,388,070 (GRCm39)	I859T	probably benign	Het
Jmjd1c	T	C	10: 67,055,105 (GRCm39)	L175P	probably damaging	Het
Klc2	T	C	19: 5,162,774 (GRCm39)	M242V	possibly damaging	Het
Klf3	T	C	5: 64,979,446 (GRCm39)	M96T	probably benign	Het
Lrrc66	G	T	5: 73,764,431 (GRCm39)	H871N	probably benign	Het
Ltn1	A	T	16: 87,222,528 (GRCm39)	D168E	probably benign	Het
Mak	T	C	13: 41,186,072 (GRCm39)	D532G	probably damaging	Het
Marchf6	A	G	15: 31,462,151 (GRCm39)	M859T	probably benign	Het
Meak7	T	C	8: 120,489,089 (GRCm39)	D398G	possibly damaging	Het
Mlxipl	C	A	5: 135,161,177 (GRCm39)	N365K	probably damaging	Het
Mplkip	T	C	13: 17,870,337 (GRCm39)	S90P	possibly damaging	Het
Myo5c	A	T	9: 75,176,807 (GRCm39)	H584L	probably benign	Het
Myt1l	A	G	12: 29,901,719 (GRCm39)	T228A	possibly damaging	Het
Nxpe3	A	T	16: 55,686,592 (GRCm39)	Y139N	possibly damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or51f2	A	G	7: 102,526,347 (GRCm39)	T7A	probably benign	Het
Or8k40	T	A	2: 86,584,981 (GRCm39)	I34L	probably damaging	Het
Pak6	C	T	2: 118,520,813 (GRCm39)	S268F	possibly damaging	Het
Parp10	G	A	15: 76,127,266 (GRCm39)	A57V	probably damaging	Het
Pik3r3	T	A	4: 116,113,465 (GRCm39)	D69E	probably damaging	Het
Polr2a	T	G	11: 69,638,251 (GRCm39)	K105T	probably damaging	Het
Prdm16	A	T	4: 154,413,295 (GRCm39)		probably benign	Het
Prepl	G	A	17: 85,390,670 (GRCm39)	T96I	probably benign	Het
Ret	C	T	6: 118,142,956 (GRCm39)		probably benign	Het
Rgl3	A	T	9: 21,887,108 (GRCm39)	D541E	probably benign	Het
Rpa1	A	C	11: 75,209,355 (GRCm39)	Y143D	probably benign	Het
Rps16	T	A	7: 28,050,508 (GRCm39)	L47Q	probably damaging	Het
Sbno2	A	T	10: 79,904,687 (GRCm39)		probably null	Het
Scube1	A	T	15: 83,505,264 (GRCm39)	N385K	probably damaging	Het
Shank2	A	G	7: 143,585,092 (GRCm39)	E31G	probably damaging	Het
Slc38a9	G	T	13: 112,865,791 (GRCm39)	C496F	possibly damaging	Het
Sntg2	T	C	12: 30,251,260 (GRCm39)		probably benign	Het
Sp7	C	A	15: 102,266,895 (GRCm39)	V322F	probably damaging	Het
Spic	T	C	10: 88,511,924 (GRCm39)	K111E	probably damaging	Het
Sqor	T	C	2: 122,639,947 (GRCm39)		probably benign	Het
St6galnac1	T	A	11: 116,657,410 (GRCm39)	M385L	probably benign	Het
Synpo2	A	T	3: 122,873,511 (GRCm39)	S1211T	possibly damaging	Het
Sytl2	T	A	7: 90,045,797 (GRCm39)	V638E	probably damaging	Het
Taar1	T	A	10: 23,796,445 (GRCm39)	S48T	probably benign	Het
Tbx18	T	A	9: 87,611,706 (GRCm39)	D108V	possibly damaging	Het
Tdh	C	T	14: 63,735,042 (GRCm39)		probably benign	Het
Tlr9	T	A	9: 106,102,881 (GRCm39)	L724Q	probably benign	Het
Tmem270	T	A	5: 134,931,642 (GRCm39)	Y100F	probably benign	Het
Trim65	G	C	11: 116,015,430 (GRCm39)		probably benign	Het
Trrap	A	T	5: 144,742,560 (GRCm39)	K1393*	probably null	Het
Ttc13	A	G	8: 125,410,030 (GRCm39)	V523A	probably damaging	Het
Utrn	T	A	10: 12,587,219 (GRCm39)	D939V	probably benign	Het
Vmn1r46	G	T	6: 89,953,935 (GRCm39)	M261I	probably benign	Het
Vwa5a	A	G	9: 38,649,103 (GRCm39)		probably null	Het
Zfp108	A	T	7: 23,960,149 (GRCm39)	T247S	probably benign	Het
Zfp366	A	T	13: 99,365,129 (GRCm39)	I97F	probably benign	Het
Zfp986	C	T	4: 145,625,513 (GRCm39)	R58C	probably benign	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
IGL02113:Snap47	APN	11	59,319,262 (GRCm39)	missense	probably damaging	0.99
IGL03290:Snap47	APN	11	59,319,424 (GRCm39)	missense	probably damaging	1.00
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

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