Mutagenetix > Incidental Mutation

Incidental Mutation 'R8001:Snap47'

616365

Institutional Source

Beutler Lab

Gene Symbol

Snap47

Ensembl Gene

ENSMUSG00000009894

Gene Name

synaptosomal-associated protein, 47

Synonyms

SNAP-47, 1110031B06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59407134-59451186 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59438354 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 41 (T41S)

Ref Sequence

ENSEMBL: ENSMUSP00000010038 (fasta)

Gene Model

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

AlphaFold

Q8R570

Predicted Effect

probably benign
Transcript: ENSMUST00000010038
AA Change: T41S

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000010038
Gene: ENSMUSG00000009894
AA Change: T41S

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 benign
Transcript: ENSMUST00000120940
AA Change: T41S

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113555
Gene: ENSMUSG00000009894
AA Change: T41S

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
AA Change: T41S

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000116170
Gene: ENSMUSG00000009894
AA Change: T41S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136436
AA Change: T41S

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115762
Gene: ENSMUSG00000009894
AA Change: T41S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145550
AA Change: T41S

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000150297
AA Change: T41S

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000156146
AA Change: T41S

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121880
Gene: ENSMUSG00000009894
AA Change: T41S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	A	G	1: 93,154,599	L266P	probably damaging	Het
Acr	A	G	15: 89,573,962	Y282C	probably damaging	Het
Alkbh4	A	G	5: 136,140,269	R136G	probably damaging	Het
Bptf	C	A	11: 107,047,340	E2*	probably null	Het
Cse1l	T	A	2: 166,939,913	F659Y	probably damaging	Het
Ctrc	A	T	4: 141,840,360	L144Q	probably damaging	Het
Elmo1	A	G	13: 20,286,732	I265V	probably benign	Het
Erich3	T	C	3: 154,713,916	S19P	probably benign	Het
Hmcn1	A	T	1: 150,664,878	C2893*	probably null	Het
Hnrnpll	G	A	17: 80,038,723	Q370*	probably null	Het
Itpkb	T	C	1: 180,332,494	S62P	probably damaging	Het
Lig3	T	A	11: 82,792,076	C501S	probably benign	Het
Nrxn1	C	T	17: 91,088,536	R64H	possibly damaging	Het
Ogfod2	T	G	5: 124,114,883	C319G	probably damaging	Het
Olfr1474	A	G	19: 13,471,422	I109V	probably benign	Het
Olfr201	T	C	16: 59,269,109	N186S	probably benign	Het
Olfr555	A	T	7: 102,659,034	D71V	probably damaging	Het
Olfr827	A	G	10: 130,210,860	V90A	probably benign	Het
Pabpc6	C	A	17: 9,669,373	R83L	probably damaging	Het
Pcdhgb2	A	T	18: 37,690,634	Q226L	probably benign	Het
Pole	A	T	5: 110,312,734	I1127F	probably damaging	Het
Psg22	A	T	7: 18,719,746	Q161L	possibly damaging	Het
Slc17a7	A	T	7: 45,168,788	T46S	probably benign	Het
Smad4	A	G	18: 73,641,810	S473P	probably damaging	Het
Snx21	T	C	2: 164,786,737	L100P	probably benign	Het
Stc1	T	A	14: 69,038,395	N212K	probably benign	Het
Stk32a	A	T	18: 43,315,144	N396I	possibly damaging	Het
Stox2	G	A	8: 47,186,477	P894L	probably benign	Het
Trav16d-dv11	A	G	14: 53,047,287	M1V	probably null	Het
Trim33	T	C	3: 103,311,515		probably null	Het
Tyrp1	T	C	4: 80,840,670	V260A	probably benign	Het
Ush2a	T	C	1: 188,911,064	Y4208H	probably damaging	Het
Vmn1r25	T	A	6: 57,979,080	K75*	probably null	Het
Vmn2r117	T	A	17: 23,479,407	N64I	possibly damaging	Het
Wdfy4	C	T	14: 32,973,535		probably null	Het
Wnt8a	A	T	18: 34,545,516	I128F	probably damaging	Het
Zc3h7b	C	A	15: 81,779,260	Y484*	probably null	Het
Zfp619	A	G	7: 39,535,221	K225R	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
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
R9156:Snap47	UTSW	11	59428464	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCAGCTCCCTCCAGAAATG -3'
(R):5'- AAAGGGATACATTGCAGGCTC -3'

Sequencing Primer
(F):5'- CCTCCAGAAATGTTCGATGACGTTG -3'
(R):5'- AGGGATACATTGCAGGCTCATCTG -3'

Posted On

2020-01-23