Mutagenetix > Incidental Mutation

Incidental Mutation 'R7607:Snph'

588347

Institutional Source

Beutler Lab

Gene Symbol

Snph

Ensembl Gene

ENSMUSG00000027457

Gene Name

syntaphilin

Synonyms

MMRRC Submission

045677-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7607 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

151590549-151632593 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 151594586 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 141 (D141N)

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: D141N

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

SMART Domains

Protein: ENSMUSP00000028951
Gene: ENSMUSG00000027457
AA Change: D141N

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: D108N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092026
Gene: ENSMUSG00000027457
AA Change: D108N

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: D141N

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

SMART Domains

Protein: ENSMUSP00000105501
Gene: ENSMUSG00000027457
AA Change: D141N

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: D72N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105503
Gene: ENSMUSG00000027457
AA Change: D72N

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

Meta Mutation Damage Score

0.0775

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (69/70)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010K14Rik	A	T	11: 70,237,557 (GRCm38)	H30Q	probably damaging	Het
A930009A15Rik	G	A	10: 115,581,989 (GRCm38)		probably null	Het
Abca7	T	C	10: 80,011,833 (GRCm38)	L1779P	probably damaging	Het
Aff1	G	A	5: 103,849,459 (GRCm38)	V1140I	possibly damaging	Het
Ano2	C	T	6: 125,712,419 (GRCm38)	A169V	probably damaging	Het
Atat1	T	C	17: 35,909,107 (GRCm38)	Y101C	possibly damaging	Het
Atp6v1c1	T	C	15: 38,683,011 (GRCm38)		probably null	Het
Atp7b	T	G	8: 22,011,506 (GRCm38)	K912T	probably damaging	Het
Ceacam14	T	C	7: 17,814,321 (GRCm38)	V112A	possibly damaging	Het
Cfap107	T	A	4: 144,419,762 (GRCm38)	H107L	probably damaging	Het
Cobll1	T	C	2: 65,095,857 (GRCm38)	N1119S	probably benign	Het
Csmd1	G	T	8: 15,918,331 (GRCm38)	Q3099K	possibly damaging	Het
Cyp3a25	A	G	5: 145,984,981 (GRCm38)	V381A	possibly damaging	Het
Dctn1	C	T	6: 83,195,069 (GRCm38)	R948*	probably null	Het
Dhrs3	A	G	4: 144,923,940 (GRCm38)	T219A	probably benign	Het
Epha7	C	T	4: 28,871,937 (GRCm38)	S422L	probably benign	Het
Esrp1	A	G	4: 11,384,449 (GRCm38)	V78A	probably damaging	Het
Evc2	A	G	5: 37,386,856 (GRCm38)	T650A	possibly damaging	Het
Exoc6b	T	A	6: 84,989,409 (GRCm38)	K194N	possibly damaging	Het
Fer1l6	G	A	15: 58,662,732 (GRCm38)	W1809*	probably null	Het
Frmd4a	T	A	2: 4,591,936 (GRCm38)	L156*	probably null	Het
Gk5	A	T	9: 96,153,210 (GRCm38)		probably null	Het
Gm3573	A	G	14: 42,189,750 (GRCm38)	F8L	probably benign	Het
Gm9767	G	A	10: 26,078,940 (GRCm38)	C130Y	unknown	Het
Grip2	T	C	6: 91,788,412 (GRCm38)	T30A	probably benign	Het
Gskip	C	A	12: 105,698,897 (GRCm38)	A65E	possibly damaging	Het
Gtf2e2	A	G	8: 33,776,465 (GRCm38)	R259G	probably benign	Het
Gucy1b2	T	A	14: 62,419,177 (GRCm38)	I244F	probably damaging	Het
Gxylt2	G	T	6: 100,798,190 (GRCm38)	V357L	possibly damaging	Het
Hivep3	CGG	CG	4: 120,097,911 (GRCm38)	1141	probably null	Het
Igdcc4	C	T	9: 65,133,758 (GRCm38)	P1024S	possibly damaging	Het
Ino80	A	T	2: 119,382,269 (GRCm38)		probably null	Het
Knl1	T	C	2: 119,095,133 (GRCm38)	F1881S	possibly damaging	Het
Mbd6	T	C	10: 127,285,230 (GRCm38)	E518G	unknown	Het
Mlh1	A	G	9: 111,229,890 (GRCm38)	S689P	probably damaging	Het
Mmrn2	T	C	14: 34,398,940 (GRCm38)	I589T	possibly damaging	Het
Mtmr12	C	T	15: 12,257,708 (GRCm38)	Q291*	probably null	Het
Mup8	T	A	4: 60,222,035 (GRCm38)	I33F	probably benign	Het
Mylk	C	T	16: 34,894,814 (GRCm38)	P504L	probably benign	Het
Ntrk3	C	T	7: 78,250,873 (GRCm38)	A573T	probably benign	Het
Obscn	G	T	11: 58,998,265 (GRCm38)	S7560R	unknown	Het
Or1m1	A	G	9: 18,754,882 (GRCm38)	F251S	possibly damaging	Het
Or52z12	A	C	7: 103,584,930 (GRCm38)	T303P	probably damaging	Het
Pde1c	T	C	6: 56,150,628 (GRCm38)	T391A	probably damaging	Het
Pla2g4d	T	A	2: 120,288,976 (GRCm38)	H19L	probably benign	Het
Plce1	C	A	19: 38,524,752 (GRCm38)	A165E	probably benign	Het
Polr1a	T	C	6: 71,913,021 (GRCm38)	S75P	probably benign	Het
Psg21	T	C	7: 18,654,783 (GRCm38)	E128G	probably benign	Het
Radil	A	G	5: 142,506,613 (GRCm38)	I420T	probably damaging	Het
Radil	A	T	5: 142,494,795 (GRCm38)	M635K	probably damaging	Het
Rnase11	G	A	14: 51,049,572 (GRCm38)	T175I	probably damaging	Het
Robo1	C	T	16: 72,563,738 (GRCm38)	P13S		Het
Slc18a2	C	A	19: 59,284,358 (GRCm38)	A364D	probably benign	Het
Snrnp70	T	C	7: 45,392,264 (GRCm38)	K70R	possibly damaging	Het
Snx33	T	C	9: 56,926,713 (GRCm38)	D24G	probably benign	Het
Spag6	T	A	2: 18,731,962 (GRCm38)	D165E	possibly damaging	Het
Spata31	T	G	13: 64,921,592 (GRCm38)	L518R	probably damaging	Het
Spata31e3	T	C	13: 50,250,260 (GRCm38)	E2G	possibly damaging	Het
Sspo	G	A	6: 48,489,727 (GRCm38)	V4059M	probably damaging	Het
St6galnac2	T	C	11: 116,679,979 (GRCm38)	Y261C	probably damaging	Het
Stoml1	A	G	9: 58,256,658 (GRCm38)	R87G	probably damaging	Het
Suv39h2	T	C	2: 3,474,829 (GRCm38)	T40A	unknown	Het
Terb2	G	T	2: 122,186,475 (GRCm38)	G26W	probably damaging	Het
Tmem62	T	C	2: 120,996,440 (GRCm38)	I406T	probably benign	Het
Tnfrsf11a	G	A	1: 105,844,732 (GRCm38)	V582I	probably benign	Het
Tpsg1	G	T	17: 25,373,210 (GRCm38)	G86V	probably damaging	Het
Unc13c	T	C	9: 73,669,535 (GRCm38)	D1480G	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573 (GRCm38)		probably benign	Het
Vmn1r48	C	A	6: 90,035,980 (GRCm38)	V288L	probably benign	Het
Vmn2r13	A	G	5: 109,173,640 (GRCm38)	V397A	probably damaging	Het
Vmn2r98	A	G	17: 19,067,308 (GRCm38)	N468D	possibly damaging	Het
Zfhx2	G	T	14: 55,066,231 (GRCm38)	T1432K	possibly damaging	Het
Zswim5	T	A	4: 116,986,742 (GRCm38)	D992E	possibly damaging	Het

Other mutations in Snph

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01736:Snph	APN	2	151,594,173 (GRCm38)	nonsense	probably null
IGL02017:Snph	APN	2	151,600,982 (GRCm38)	missense	probably damaging	1.00
IGL02029:Snph	APN	2	151,593,607 (GRCm38)	missense	probably damaging	1.00
IGL02186:Snph	APN	2	151,594,343 (GRCm38)	missense	possibly damaging	0.67
R0621:Snph	UTSW	2	151,593,722 (GRCm38)	missense	probably damaging	1.00
R1311:Snph	UTSW	2	151,597,202 (GRCm38)	missense	probably damaging	1.00
R1660:Snph	UTSW	2	151,594,478 (GRCm38)	nonsense	probably null
R3753:Snph	UTSW	2	151,593,454 (GRCm38)	missense	probably benign	0.00
R3923:Snph	UTSW	2	151,593,511 (GRCm38)	missense	probably damaging	1.00
R4081:Snph	UTSW	2	151,593,802 (GRCm38)	missense	probably damaging	1.00
R4082:Snph	UTSW	2	151,593,802 (GRCm38)	missense	probably damaging	1.00
R4461:Snph	UTSW	2	151,593,847 (GRCm38)	missense	probably benign	0.00
R4462:Snph	UTSW	2	151,594,115 (GRCm38)	missense	probably damaging	1.00
R4463:Snph	UTSW	2	151,594,115 (GRCm38)	missense	probably damaging	1.00
R4619:Snph	UTSW	2	151,594,514 (GRCm38)	nonsense	probably null
R5042:Snph	UTSW	2	151,601,057 (GRCm38)	missense	possibly damaging	0.66
R5180:Snph	UTSW	2	151,600,387 (GRCm38)	missense	probably benign	0.05
R5184:Snph	UTSW	2	151,594,544 (GRCm38)	missense	probably damaging	1.00
R5925:Snph	UTSW	2	151,594,231 (GRCm38)	missense	probably damaging	1.00
R7169:Snph	UTSW	2	151,594,387 (GRCm38)	missense	probably damaging	1.00
R7243:Snph	UTSW	2	151,594,253 (GRCm38)	missense	probably damaging	0.99
R7417:Snph	UTSW	2	151,600,343 (GRCm38)	missense	probably damaging	1.00
R8517:Snph	UTSW	2	151,593,721 (GRCm38)	missense	probably damaging	0.99
R9325:Snph	UTSW	2	151,594,288 (GRCm38)	missense	probably damaging	0.99
R9617:Snph	UTSW	2	151,593,502 (GRCm38)	missense	probably damaging	1.00
R9671:Snph	UTSW	2	151,594,411 (GRCm38)	missense	probably damaging	1.00
X0024:Snph	UTSW	2	151,594,204 (GRCm38)	missense	probably benign	0.37
Z1177:Snph	UTSW	2	151,593,634 (GRCm38)	missense	possibly damaging	0.47

Predicted Primers

PCR Primer
(F):5'- AAAGTACTTCTGCAGCCCC -3'
(R):5'- AACGATCCTGTTTTGGCCC -3'

Sequencing Primer
(F):5'- CTTGTCCTTGTCAATCAGGTTG -3'
(R):5'- TTACTCCTCTCCCTGTGGG -3'

Posted On

2019-10-24