Mutagenetix > Incidental Mutation

Incidental Mutation 'R4619:Snph'

345154

Institutional Source

Beutler Lab

Gene Symbol

Snph

Ensembl Gene

ENSMUSG00000027457

Gene Name

syntaphilin

Synonyms

MMRRC Submission

041885-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4619 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

151432469-151474513 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 151436434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 96 (Q96*)

Ref Sequence

ENSEMBL: ENSMUSP00000105503 (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 null
Transcript: ENSMUST00000028951
AA Change: Q165*

SMART Domains

Protein: ENSMUSP00000028951
Gene: ENSMUSG00000027457
AA Change: Q165*

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 null
Transcript: ENSMUST00000094456
AA Change: Q132*

SMART Domains

Protein: ENSMUSP00000092026
Gene: ENSMUSG00000027457
AA Change: Q132*

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 null
Transcript: ENSMUST00000109875
AA Change: Q165*

SMART Domains

Protein: ENSMUSP00000105501
Gene: ENSMUSG00000027457
AA Change: Q165*

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 null
Transcript: ENSMUST00000109877
AA Change: Q96*

SMART Domains

Protein: ENSMUSP00000105503
Gene: ENSMUSG00000027457
AA Change: Q96*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (74/74)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	A	3: 137,775,520 (GRCm39)	V1570I	probably damaging	Het
Alx4	A	G	2: 93,473,106 (GRCm39)	R35G	probably damaging	Het
Apod	T	C	16: 31,116,211 (GRCm39)	D173G	probably benign	Het
Atp8b3	G	A	10: 80,361,858 (GRCm39)	T731I	possibly damaging	Het
Birc6	A	C	17: 74,947,145 (GRCm39)	T2955P	probably benign	Het
Cdh15	G	A	8: 123,587,612 (GRCm39)	D179N	probably damaging	Het
Cntnap5c	G	T	17: 58,717,263 (GRCm39)	V1282L	probably benign	Het
Crocc2	G	A	1: 93,141,372 (GRCm39)	R1175H	probably benign	Het
Dbh	A	G	2: 27,064,836 (GRCm39)	D349G	probably damaging	Het
Dync1h1	A	G	12: 110,605,278 (GRCm39)	I2372V	probably benign	Het
Fer1l4	A	T	2: 155,889,007 (GRCm39)	W389R	probably damaging	Het
Fndc1	T	C	17: 7,984,036 (GRCm39)	T1297A	unknown	Het
Gart	T	C	16: 91,422,321 (GRCm39)	N732S	probably damaging	Het
Gas2l2	T	C	11: 83,313,924 (GRCm39)	I463V	probably benign	Het
Gm5591	G	A	7: 38,220,072 (GRCm39)	S267L	probably benign	Het
Gzmk	A	G	13: 113,309,657 (GRCm39)	V92A	probably damaging	Het
Hspg2	C	T	4: 137,273,884 (GRCm39)	R2680W	probably damaging	Het
Insyn2a	A	G	7: 134,520,270 (GRCm39)	Y87H	probably damaging	Het
Kcnh3	G	A	15: 99,131,982 (GRCm39)	V646M	probably damaging	Het
Kcnk7	A	C	19: 5,756,463 (GRCm39)	I230L	probably benign	Het
Kif3b	C	T	2: 153,158,594 (GRCm39)	R132*	probably null	Het
Klra5	T	C	6: 129,885,776 (GRCm39)	S128G	probably benign	Het
Krba1	C	T	6: 48,383,282 (GRCm39)	R4*	probably null	Het
Krt1c	T	A	15: 101,726,026 (GRCm39)	I171F	probably damaging	Het
Lss	A	G	10: 76,372,089 (GRCm39)	D148G	probably benign	Het
Mavs	G	T	2: 131,082,370 (GRCm39)	A85S	probably damaging	Het
Mipep	T	C	14: 61,140,865 (GRCm39)	C566R	probably damaging	Het
Myocd	T	A	11: 65,069,254 (GRCm39)		probably benign	Het
Ndufa9	C	T	6: 126,804,498 (GRCm39)		probably null	Het
Nolc1	G	A	19: 46,071,959 (GRCm39)	G583D	probably damaging	Het
Nucb2	T	C	7: 116,127,059 (GRCm39)		probably null	Het
Or1i2	T	C	10: 78,448,409 (GRCm39)	D22G	probably benign	Het
Or52e19	C	T	7: 102,959,165 (GRCm39)	T79I	probably benign	Het
Or5p63	A	T	7: 107,811,301 (GRCm39)	I145N	possibly damaging	Het
Pank4	C	A	4: 155,061,076 (GRCm39)	D508E	probably benign	Het
Phb1	T	A	11: 95,562,416 (GRCm39)		probably benign	Het
Pign	T	A	1: 105,449,715 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,076,382 (GRCm39)	K349E	probably benign	Het
Ppp1r3c	A	T	19: 36,711,743 (GRCm39)	V9E	possibly damaging	Het
Rap1gap	T	A	4: 137,443,422 (GRCm39)	V130D	probably damaging	Het
Senp3	T	A	11: 69,567,944 (GRCm39)	Y432F	probably benign	Het
Serpina3f	T	C	12: 104,183,549 (GRCm39)	I137T	possibly damaging	Het
Slc46a3	T	A	5: 147,823,540 (GRCm39)	K101*	probably null	Het
Sptb	A	T	12: 76,630,581 (GRCm39)	C2244*	probably null	Het
Srbd1	A	T	17: 86,416,693 (GRCm39)	F488L	probably benign	Het
Ssc5d	A	T	7: 4,932,524 (GRCm39)	H396L	probably damaging	Het
Sulf1	A	C	1: 12,856,876 (GRCm39)	R42S	probably damaging	Het
Taf1a	T	A	1: 183,181,752 (GRCm39)		probably benign	Het
Thoc5	T	A	11: 4,876,218 (GRCm39)	M609K	probably damaging	Het
Tiam2	A	T	17: 3,568,617 (GRCm39)	I1588F	probably damaging	Het
Tmcc1	C	T	6: 116,020,247 (GRCm39)	V402I	probably damaging	Het
Tmprss15	T	C	16: 78,818,358 (GRCm39)	D524G	probably damaging	Het
Trbv31	T	C	6: 41,534,901 (GRCm39)	I21V	probably benign	Het
Vmn1r74	A	T	7: 11,581,398 (GRCm39)	T233S	possibly damaging	Het
Vmn1r74	G	C	7: 11,581,403 (GRCm39)	Q234H	probably damaging	Het
Vsx1	A	T	2: 150,530,529 (GRCm39)	S118T	probably benign	Het
Wnt9b	G	A	11: 103,621,949 (GRCm39)	T236I	probably benign	Het
Zbtb21	T	C	16: 97,751,092 (GRCm39)	T1092A	possibly damaging	Het
Zc3hc1	G	A	6: 30,387,523 (GRCm39)	T52I	probably benign	Het
Zfp558	T	A	9: 18,367,577 (GRCm39)	N404Y	possibly damaging	Het
Zfp735	A	T	11: 73,602,031 (GRCm39)	D325V	probably damaging	Het
Zhx3	A	T	2: 160,623,879 (GRCm39)	M96K	probably damaging	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
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
R7169:Snph	UTSW	2	151,436,307 (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'- CACTCAGCTTGGTGTAGGTG -3'
(R):5'- TAGCTTTGAACCACCCCGTC -3'

Sequencing Primer
(F):5'- CTTGGCGACTCCATTCTGGG -3'
(R):5'- GCCATCCGTGCGTGGTG -3'

Posted On

2015-09-25