Mutagenetix > Incidental Mutation

Incidental Mutation 'R9156:Snap47'

695391

Institutional Source

Beutler Lab

Gene Symbol

Snap47

Ensembl Gene

ENSMUSG00000009894

Gene Name

synaptosomal-associated protein, 47

Synonyms

SNAP-47, 1110031B06Rik

MMRRC Submission

068974-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9156 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59407134-59451186 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59428464 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 283 (S283T)

Ref Sequence

ENSEMBL: ENSMUSP00000010038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010038] [ENSMUST00000120940] [ENSMUST00000136436] [ENSMUST00000156146]

AlphaFold

Q8R570

Predicted Effect

probably damaging
Transcript: ENSMUST00000010038
AA Change: S283T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000010038
Gene: ENSMUSG00000009894
AA Change: S283T

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: S283T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113555
Gene: ENSMUSG00000009894
AA Change: S283T

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,670,998 (GRCm38)	L1150V	probably damaging	Het
AB124611	A	G	9: 21,544,693 (GRCm38)	D194G	possibly damaging	Het
Adgrv1	A	G	13: 81,521,183 (GRCm38)	L2418P	probably benign	Het
Ap3m1	A	G	14: 21,040,084 (GRCm38)	S213P	probably damaging	Het
Apobec2	A	T	17: 48,432,503 (GRCm38)	L36H		Het
Arrb1	A	G	7: 99,588,073 (GRCm38)	D78G		Het
Astn1	A	G	1: 158,510,985 (GRCm38)	Q434R	probably damaging	Het
Cadps	C	G	14: 12,705,676 (GRCm38)	D240H	probably damaging	Het
Cmya5	A	C	13: 93,097,370 (GRCm38)	D403E	unknown	Het
Crxos	A	C	7: 15,897,511 (GRCm38)	I45L	probably benign	Het
Dmxl1	C	G	18: 49,939,572 (GRCm38)	N2744K	probably damaging	Het
Dnah2	A	G	11: 69,422,861 (GRCm38)	I4204T		Het
Ei24	A	G	9: 36,786,031 (GRCm38)	S134P	probably damaging	Het
Eif2ak3	G	T	6: 70,883,630 (GRCm38)	V397F	probably damaging	Het
Eif4g2	T	C	7: 111,073,762 (GRCm38)	I134V		Het
Fam186a	A	G	15: 99,943,278 (GRCm38)	I1695T	possibly damaging	Het
Gcnt3	T	C	9: 70,034,657 (GRCm38)	M210V	probably damaging	Het
Gm21671	CTTT	C	5: 25,950,859 (GRCm38)		probably benign	Het
Gm4788	A	G	1: 139,732,347 (GRCm38)	I680T	probably damaging	Het
Gpatch8	A	G	11: 102,479,473 (GRCm38)	S1080P	probably benign	Het
Gtf3c1	A	G	7: 125,645,777 (GRCm38)	L1695P	possibly damaging	Het
Haus3	A	G	5: 34,167,650 (GRCm38)	F222L	probably damaging	Het
Kbtbd8	C	T	6: 95,122,844 (GRCm38)	Q445*	probably null	Het
Kcnc3	A	G	7: 44,591,168 (GRCm38)	N95D	probably damaging	Het
Krt40	C	T	11: 99,539,867 (GRCm38)		probably null	Het
Lgi1	A	G	19: 38,301,298 (GRCm38)	T271A	probably benign	Het
Ltbp2	G	A	12: 84,791,090 (GRCm38)	P1192L	probably benign	Het
Map3k21	A	G	8: 125,938,724 (GRCm38)	T551A	possibly damaging	Het
Muc5ac	T	C	7: 141,809,792 (GRCm38)	I2280T	unknown	Het
Mug1	C	A	6: 121,874,431 (GRCm38)	D762E	probably damaging	Het
Myo1e	A	T	9: 70,359,323 (GRCm38)	N615I	probably damaging	Het
Olfr1280	T	C	2: 111,315,482 (GRCm38)	M1T	probably null	Het
Olfr564	T	C	7: 102,804,132 (GRCm38)	L218P	probably damaging	Het
Pld5	T	C	1: 175,975,538 (GRCm38)	E387G	possibly damaging	Het
Pld5	A	G	1: 176,074,437 (GRCm38)	V195A	probably benign	Het
Rad54l	T	C	4: 116,123,152 (GRCm38)		probably benign	Het
Rnf123	A	T	9: 108,063,028 (GRCm38)		probably benign	Het
Rnf213	A	G	11: 119,440,748 (GRCm38)	E2262G		Het
Rp1	C	A	1: 4,163,938 (GRCm38)	V910L	unknown	Het
Rpp21	A	T	17: 36,257,515 (GRCm38)	C23S	probably benign	Het
Scn11a	T	C	9: 119,759,923 (GRCm38)	M1306V	possibly damaging	Het
Scn2b	C	T	9: 45,125,436 (GRCm38)	L81F	possibly damaging	Het
Sco2	T	C	15: 89,372,160 (GRCm38)	D97G	probably damaging	Het
Slc25a54	T	C	3: 109,094,232 (GRCm38)	V112A	probably benign	Het
Slc5a11	A	T	7: 123,265,269 (GRCm38)	K363*	probably null	Het
Smg1	G	T	7: 118,154,661 (GRCm38)	T2563K	unknown	Het
Stat1	G	T	1: 52,139,229 (GRCm38)	R274L	probably damaging	Het
Stoml1	A	G	9: 58,257,126 (GRCm38)	T166A		Het
Svs2	G	T	2: 164,237,589 (GRCm38)	Q133K	probably benign	Het
Tas2r107	T	A	6: 131,659,459 (GRCm38)	H209L	probably benign	Het
Tmco3	T	A	8: 13,310,228 (GRCm38)	V477D	possibly damaging	Het
Tmem131	A	T	1: 36,841,686 (GRCm38)	S168T	possibly damaging	Het
Tmem41a	T	C	16: 21,937,109 (GRCm38)	N149S	probably damaging	Het
Ttll4	T	C	1: 74,680,066 (GRCm38)	F359L	probably benign	Het
Ttn	T	A	2: 76,954,818 (GRCm38)	M784L	unknown	Het
Ubr1	A	G	2: 120,873,122 (GRCm38)		probably null	Het
Ubxn2b	C	T	4: 6,214,646 (GRCm38)	P227S	probably damaging	Het
Upb1	C	T	10: 75,430,127 (GRCm38)	L263F	probably benign	Het
Usp15	T	A	10: 123,113,648 (GRCm38)	T935S	probably benign	Het
Zscan4-ps3	G	A	7: 11,613,237 (GRCm38)	C400Y	probably damaging	Het

Other mutations in Snap47

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01777:Snap47	APN	11	59,421,651 (GRCm38)	critical splice acceptor site	probably null
IGL02113:Snap47	APN	11	59,428,436 (GRCm38)	missense	probably damaging	0.99
IGL03290:Snap47	APN	11	59,428,598 (GRCm38)	missense	probably damaging	1.00
R0126:Snap47	UTSW	11	59,437,987 (GRCm38)	missense	probably damaging	0.99
R0582:Snap47	UTSW	11	59,428,433 (GRCm38)	nonsense	probably null
R0633:Snap47	UTSW	11	59,428,613 (GRCm38)	missense	probably benign	0.25
R0883:Snap47	UTSW	11	59,438,500 (GRCm38)	utr 5 prime	probably benign
R1657:Snap47	UTSW	11	59,428,770 (GRCm38)	missense	probably benign	0.08
R1855:Snap47	UTSW	11	59,428,333 (GRCm38)	unclassified	probably benign
R2761:Snap47	UTSW	11	59,438,059 (GRCm38)	missense	probably benign	0.01
R4079:Snap47	UTSW	11	59,428,551 (GRCm38)	missense	probably benign	0.38
R4805:Snap47	UTSW	11	59,428,517 (GRCm38)	missense	possibly damaging	0.91
R4960:Snap47	UTSW	11	59,428,543 (GRCm38)	missense	probably damaging	1.00
R5212:Snap47	UTSW	11	59,428,352 (GRCm38)	missense	probably damaging	0.99
R5793:Snap47	UTSW	11	59,438,192 (GRCm38)	missense	probably damaging	1.00
R7243:Snap47	UTSW	11	59,428,722 (GRCm38)	missense	probably benign	0.04
R7603:Snap47	UTSW	11	59,428,547 (GRCm38)	missense	probably damaging	1.00
R7870:Snap47	UTSW	11	59,438,078 (GRCm38)	missense	probably benign	0.11
R8001:Snap47	UTSW	11	59,438,354 (GRCm38)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- GCCTGCTGAACACGAATCAC -3'
(R):5'- GAGAGCAGAGTCTCATTCCAAGC -3'

Sequencing Primer
(F):5'- CACGAATCACAGCATGCTGAGTG -3'
(R):5'- CTCCTGCACAGATTTGAG -3'

Posted On

2022-01-20