Mutagenetix > Incidental Mutation

Incidental Mutation 'R2761:Snap47'

254058

Institutional Source

Beutler Lab

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 #

R2761 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59297967-59340868 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59328885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 139 (D139G)

Ref Sequence

ENSEMBL: ENSMUSP00000116170 (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: D139G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000010038
Gene: ENSMUSG00000009894
AA Change: D139G

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: D139G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000113555
Gene: ENSMUSG00000009894
AA Change: D139G

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: D139G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000116170
Gene: ENSMUSG00000009894
AA Change: D139G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136436
AA Change: D139G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000115762
Gene: ENSMUSG00000009894
AA Change: D139G

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 benign
Transcript: ENSMUST00000156146
AA Change: D139G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000121880
Gene: ENSMUSG00000009894
AA Change: D139G

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,773,541 (GRCm39)	V910A	probably damaging	Het
1700123K08Rik	T	C	5: 138,562,436 (GRCm39)	T102A	possibly damaging	Het
Acoxl	T	C	2: 127,719,733 (GRCm39)	Y165H	probably benign	Het
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Cdh1	T	A	8: 107,380,481 (GRCm39)	I208N	possibly damaging	Het
Col11a2	A	G	17: 34,270,000 (GRCm39)	I477V	probably damaging	Het
Cpa2	A	G	6: 30,554,193 (GRCm39)	D271G	probably damaging	Het
Dzank1	T	C	2: 144,355,369 (GRCm39)	M109V	probably benign	Het
Hdac3	A	T	18: 38,078,779 (GRCm39)	S111T	probably benign	Het
Kremen1	GGG	GGGTGG	11: 5,151,792 (GRCm39)		probably benign	Het
Krt31	T	C	11: 99,938,691 (GRCm39)	T301A	probably benign	Het
Rad21	T	A	15: 51,846,039 (GRCm39)	K10N	probably damaging	Het
Tango6	C	A	8: 107,425,664 (GRCm39)	T408N	possibly 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
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
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
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'- GCAATGTCTCTCTGGGATGAGTC -3'
(R):5'- CAAGCACTGGTTCAGCTCAC -3'

Sequencing Primer
(F):5'- TGAGTCCCACATAGTCCACCTAGTAG -3'
(R):5'- CACTGCAGCCTAGTCGAAATGTG -3'

Posted On

2014-12-04