Mutagenetix > Incidental Mutation

Incidental Mutation 'R7169:Snph'

558102

Institutional Source

Beutler Lab

Gene Symbol

Snph

Ensembl Gene

ENSMUSG00000027457

Gene Name

syntaphilin

Synonyms

MMRRC Submission

045229-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7169 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

151432469-151474513 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 151436307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 207 (N207I)

Ref Sequence

ENSEMBL: ENSMUSP00000028951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028950] [ENSMUST00000028951] [ENSMUST00000094456] [ENSMUST00000109875] [ENSMUST00000109877] [ENSMUST00000137936]

AlphaFold

Q80U23

Predicted Effect

probably benign
Transcript: ENSMUST00000028950

SMART Domains

Protein: ENSMUSP00000028950
Gene: ENSMUSG00000027456

Domain	Start	End	E-Value	Type
low complexity region	23	40	N/A	INTRINSIC
PDZ	117	188	2.13e-9	SMART
PDZ	201	267	1.99e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000028951
AA Change: N207I

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

SMART Domains

Protein: ENSMUSP00000028951
Gene: ENSMUSG00000027457
AA Change: N207I

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
Pfam:Syntaphilin	50	367	9.3e-141	PFAM
low complexity region	436	449	N/A	INTRINSIC
low complexity region	466	476	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000094456
AA Change: N174I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092026
Gene: ENSMUSG00000027457
AA Change: N174I

Domain	Start	End	E-Value	Type
Pfam:Syntaphilin	17	334	7.7e-141	PFAM
low complexity region	403	416	N/A	INTRINSIC
low complexity region	433	443	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109875
AA Change: N207I

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

SMART Domains

Protein: ENSMUSP00000105501
Gene: ENSMUSG00000027457
AA Change: N207I

Domain	Start	End	E-Value	Type
low complexity region	4	27	N/A	INTRINSIC
Pfam:Syntaphilin	51	366	1.7e-145	PFAM
low complexity region	436	449	N/A	INTRINSIC
low complexity region	466	476	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109877
AA Change: N138I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105503
Gene: ENSMUSG00000027457
AA Change: N138I

Domain	Start	End	E-Value	Type
Pfam:Syntaphilin	2	298	3.2e-125	PFAM
low complexity region	367	380	N/A	INTRINSIC
low complexity region	397	407	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137936

SMART Domains

Protein: ENSMUSP00000123255
Gene: ENSMUSG00000027457

Domain	Start	End	E-Value	Type
Pfam:Syntaphilin	17	87	4.6e-39	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Syntaxin-1, synaptobrevin/VAMP, and SNAP25 interact to form the SNARE complex, which is required for synaptic vesicle docking and fusion. The protein encoded by this gene is membrane-associated and inhibits SNARE complex formation by binding free syntaxin-1. Expression of this gene appears to be brain-specific. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice with disruptions in this gene are viable, fertile, and morphologically normal. However, they do display subtile deficiencies in coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	A	G	10: 61,040,707 (GRCm39)	V870A	probably damaging	Het
Ahi1	T	G	10: 20,930,918 (GRCm39)	D919E	probably damaging	Het
Angptl6	T	A	9: 20,786,475 (GRCm39)	R390S	probably damaging	Het
Arhgef11	A	G	3: 87,634,755 (GRCm39)	I873V	possibly damaging	Het
BC024063	T	C	10: 81,946,293 (GRCm39)	Y638H	possibly damaging	Het
Brsk1	T	C	7: 4,718,403 (GRCm39)	S751P	probably benign	Het
Calhm5	T	A	10: 33,968,160 (GRCm39)	T298S	probably damaging	Het
Cdh20	G	A	1: 104,875,078 (GRCm39)	A287T	possibly damaging	Het
Clic3	G	A	2: 25,348,731 (GRCm39)	R237H	probably benign	Het
Cog6	G	T	3: 52,897,387 (GRCm39)	P562H	possibly damaging	Het
Csnk2a2	A	G	8: 96,215,006 (GRCm39)	Y24H		Het
Ctif	T	C	18: 75,605,087 (GRCm39)	D484G	probably damaging	Het
Cyria	A	G	12: 12,409,233 (GRCm39)	D71G	possibly damaging	Het
Dennd6b	A	T	15: 89,073,055 (GRCm39)	F161I	possibly damaging	Het
Dnah14	G	T	1: 181,529,930 (GRCm39)	V2235L	probably benign	Het
Dnah6	A	T	6: 73,015,729 (GRCm39)	V3636D	probably damaging	Het
Dpm1	A	T	2: 168,053,343 (GRCm39)	Y207*	probably null	Het
Eml3	A	G	19: 8,910,828 (GRCm39)	T227A	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Eppk1	C	A	15: 75,990,114 (GRCm39)	A2256S	probably benign	Het
Etnppl	A	T	3: 130,414,345 (GRCm39)	N80I	probably damaging	Het
Eya4	A	T	10: 23,031,845 (GRCm39)	N236K	probably benign	Het
Gm12886	T	G	4: 121,273,948 (GRCm39)	Q89H	probably damaging	Het
Gsdme	T	C	6: 50,204,358 (GRCm39)	T200A	probably benign	Het
Hipk1	C	T	3: 103,651,533 (GRCm39)	A1122T	probably benign	Het
Icos	A	G	1: 61,034,705 (GRCm39)	D176G	probably damaging	Het
Igkv5-43	T	A	6: 69,800,519 (GRCm39)	Y56F	probably damaging	Het
Il1r1	T	C	1: 40,332,519 (GRCm39)		probably null	Het
Ildr2	G	A	1: 166,135,503 (GRCm39)		probably null	Het
Ilf3	T	A	9: 21,306,722 (GRCm39)	H305Q	probably damaging	Het
Insrr	A	G	3: 87,715,901 (GRCm39)	H532R	probably benign	Het
Lmbr1l	CACTACATACTACATACTACATACTACATACTACATACTACATAC	CACTACATACTACATACTACATACTACATACTACATACTACATACTACATAC	15: 98,807,039 (GRCm39)		probably null	Het
Lmbr1l	ACTACAT	ACTACATGCTACAT	15: 98,807,075 (GRCm39)		probably benign	Het
Lratd1	A	G	12: 14,200,619 (GRCm39)	F36S	probably damaging	Het
Lrrc25	T	G	8: 71,070,437 (GRCm39)	S73A	probably benign	Het
Lrrn1	T	C	6: 107,544,565 (GRCm39)	L121P	probably damaging	Het
Ly6c1	C	A	15: 74,916,495 (GRCm39)	V116L	probably benign	Het
Meltf	A	G	16: 31,698,980 (GRCm39)	D30G	probably benign	Het
Mroh7	T	A	4: 106,548,836 (GRCm39)	D1009V	probably damaging	Het
Mybpc3	T	C	2: 90,948,524 (GRCm39)	V4A	possibly damaging	Het
Mycbp2	A	G	14: 103,497,636 (GRCm39)	S979P	possibly damaging	Het
Ntn5	C	T	7: 45,336,198 (GRCm39)	R210*	probably null	Het
Nuak1	T	C	10: 84,210,609 (GRCm39)	D493G	probably damaging	Het
Oprk1	T	A	1: 5,659,304 (GRCm39)	D11E	probably benign	Het
Or13a1	G	T	6: 116,471,025 (GRCm39)	A152S	probably benign	Het
Or4f14	A	G	2: 111,742,939 (GRCm39)	M112T	possibly damaging	Het
Or4k37	T	A	2: 111,158,943 (GRCm39)	Y60N	probably damaging	Het
Or56a41	T	C	7: 104,740,397 (GRCm39)	I150V	possibly damaging	Het
Pkd1l2	T	A	8: 117,767,574 (GRCm39)	T1239S	possibly damaging	Het
Pkm	A	G	9: 59,578,908 (GRCm39)	D296G	possibly damaging	Het
Pof1b	A	G	X: 111,554,042 (GRCm39)	I544T	probably benign	Het
Pop5	T	A	5: 115,378,287 (GRCm39)	V77E	possibly damaging	Het
Ppp1r10	T	C	17: 36,240,365 (GRCm39)	S552P	probably damaging	Het
Rabggta	C	G	14: 55,958,358 (GRCm39)	R101P	probably damaging	Het
Rorc	A	T	3: 94,296,487 (GRCm39)	E243V	probably benign	Het
Setmar	C	A	6: 108,042,049 (GRCm39)	A3E	possibly damaging	Het
Skor2	T	A	18: 76,948,681 (GRCm39)	V801E	probably benign	Het
Slc12a7	G	A	13: 73,932,679 (GRCm39)	V56M	probably benign	Het
Snx14	A	G	9: 88,280,362 (GRCm39)	V531A	probably damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tlr3	A	T	8: 45,850,056 (GRCm39)	M871K	probably damaging	Het
Tnfrsf11a	A	T	1: 105,772,421 (GRCm39)	R569S	possibly damaging	Het
Trim66	A	G	7: 109,054,328 (GRCm39)	V1294A	probably benign	Het
Vldlr	G	A	19: 27,221,728 (GRCm39)	V698I	probably benign	Het
Vmn2r73	G	A	7: 85,507,663 (GRCm39)	Q550*	probably null	Het
Zdhhc5	A	T	2: 84,532,675 (GRCm39)		probably null	Het
Zfhx3	T	A	8: 109,678,030 (GRCm39)	Y3027N	possibly damaging	Het
Zfp663	C	T	2: 165,194,359 (GRCm39)	S620N	probably benign	Het

Other mutations in Snph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01736:Snph	APN	2	151,436,093 (GRCm39)	nonsense	probably null
IGL02017:Snph	APN	2	151,442,902 (GRCm39)	missense	probably damaging	1.00
IGL02029:Snph	APN	2	151,435,527 (GRCm39)	missense	probably damaging	1.00
IGL02186:Snph	APN	2	151,436,263 (GRCm39)	missense	possibly damaging	0.67
R0621:Snph	UTSW	2	151,435,642 (GRCm39)	missense	probably damaging	1.00
R1311:Snph	UTSW	2	151,439,122 (GRCm39)	missense	probably damaging	1.00
R1660:Snph	UTSW	2	151,436,398 (GRCm39)	nonsense	probably null
R3753:Snph	UTSW	2	151,435,374 (GRCm39)	missense	probably benign	0.00
R3923:Snph	UTSW	2	151,435,431 (GRCm39)	missense	probably damaging	1.00
R4081:Snph	UTSW	2	151,435,722 (GRCm39)	missense	probably damaging	1.00
R4082:Snph	UTSW	2	151,435,722 (GRCm39)	missense	probably damaging	1.00
R4461:Snph	UTSW	2	151,435,767 (GRCm39)	missense	probably benign	0.00
R4462:Snph	UTSW	2	151,436,035 (GRCm39)	missense	probably damaging	1.00
R4463:Snph	UTSW	2	151,436,035 (GRCm39)	missense	probably damaging	1.00
R4619:Snph	UTSW	2	151,436,434 (GRCm39)	nonsense	probably null
R5042:Snph	UTSW	2	151,442,977 (GRCm39)	missense	possibly damaging	0.66
R5180:Snph	UTSW	2	151,442,307 (GRCm39)	missense	probably benign	0.05
R5184:Snph	UTSW	2	151,436,464 (GRCm39)	missense	probably damaging	1.00
R5925:Snph	UTSW	2	151,436,151 (GRCm39)	missense	probably damaging	1.00
R7243:Snph	UTSW	2	151,436,173 (GRCm39)	missense	probably damaging	0.99
R7417:Snph	UTSW	2	151,442,263 (GRCm39)	missense	probably damaging	1.00
R7607:Snph	UTSW	2	151,436,506 (GRCm39)	missense	probably damaging	1.00
R8517:Snph	UTSW	2	151,435,641 (GRCm39)	missense	probably damaging	0.99
R9325:Snph	UTSW	2	151,436,208 (GRCm39)	missense	probably damaging	0.99
R9617:Snph	UTSW	2	151,435,422 (GRCm39)	missense	probably damaging	1.00
R9671:Snph	UTSW	2	151,436,331 (GRCm39)	missense	probably damaging	1.00
X0024:Snph	UTSW	2	151,436,124 (GRCm39)	missense	probably benign	0.37
Z1177:Snph	UTSW	2	151,435,554 (GRCm39)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- ACTATCAGCTCCATCCTCGG -3'
(R):5'- ACCTTAAGACGCAGCTGTCC -3'

Sequencing Primer
(F):5'- CAGAGGTGTTGGAGGGATCCC -3'
(R):5'- TGTCCCGCATGCAAGAG -3'

Posted On

2019-06-26