Mutagenetix > Incidental Mutation

Incidental Mutation 'R5180:Snph'

399688

Institutional Source

Beutler Lab

Gene Symbol

Snph

Ensembl Gene

ENSMUSG00000027457

Gene Name

syntaphilin

Synonyms

MMRRC Submission

042760-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5180 (G1)

Quality Score

151

Status

Validated

Chromosome

Chromosomal Location

151432469-151474513 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 151442307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 43 (R43W)

Ref Sequence

ENSEMBL: ENSMUSP00000105501 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028951] [ENSMUST00000094456] [ENSMUST00000109875] [ENSMUST00000109877] [ENSMUST00000137936] [ENSMUST00000146172] [ENSMUST00000148755]

AlphaFold

Q80U23

Predicted Effect

probably benign
Transcript: ENSMUST00000028951
AA Change: R43W

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000028951
Gene: ENSMUSG00000027457
AA Change: R43W

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 benign
Transcript: ENSMUST00000094456

SMART Domains

Protein: ENSMUSP00000092026
Gene: ENSMUSG00000027457

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 benign
Transcript: ENSMUST00000109875
AA Change: R43W

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000105501
Gene: ENSMUSG00000027457
AA Change: R43W

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 benign
Transcript: ENSMUST00000109877

SMART Domains

Protein: ENSMUSP00000105503
Gene: ENSMUSG00000027457

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145434

Predicted Effect

probably benign
Transcript: ENSMUST00000146172

SMART Domains

Protein: ENSMUSP00000138114
Gene: ENSMUSG00000027457

Domain	Start	End	E-Value	Type
low complexity region	13	30	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148755

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (60/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,416,510 (GRCm39)	T4091A	probably benign	Het
Adgrv1	G	A	13: 81,431,535 (GRCm39)		probably benign	Het
Ago3	C	T	4: 126,261,544 (GRCm39)	V435I	probably benign	Het
Akap10	C	T	11: 61,807,015 (GRCm39)	A72T	probably damaging	Het
Ampd2	G	T	3: 107,986,358 (GRCm39)	Q273K	probably benign	Het
Ankrd35	C	A	3: 96,587,789 (GRCm39)	H109Q	probably damaging	Het
Atpaf2	A	G	11: 60,296,695 (GRCm39)	L153S	possibly damaging	Het
C1qtnf7	G	A	5: 43,773,156 (GRCm39)	V152M	probably benign	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cep295	C	T	9: 15,243,416 (GRCm39)	C1680Y	probably benign	Het
Cyp4f15	A	T	17: 32,909,714 (GRCm39)	I104F	probably benign	Het
Daam1	A	G	12: 71,993,899 (GRCm39)	N434S	unknown	Het
Dab2ip	C	T	2: 35,610,503 (GRCm39)	P782L	possibly damaging	Het
Dhx34	C	A	7: 15,939,405 (GRCm39)	G663*	probably null	Het
Dnah7a	T	C	1: 53,462,446 (GRCm39)	D3715G	probably damaging	Het
Dnajc11	C	T	4: 152,054,396 (GRCm39)	R201C	probably damaging	Het
Erf	A	T	7: 24,945,690 (GRCm39)	I27N	probably damaging	Het
Fbxl7	T	A	15: 26,543,507 (GRCm39)	Y380F	probably damaging	Het
Gm3336	A	G	8: 71,173,110 (GRCm39)		probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm5134	T	C	10: 75,812,200 (GRCm39)	Y152H	probably damaging	Het
Gm6899	A	G	11: 26,543,795 (GRCm39)		probably benign	Het
Gna11	T	C	10: 81,380,707 (GRCm39)	K19E	probably benign	Het
Gpr15	C	A	16: 58,538,248 (GRCm39)	L280F	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
Ino80d	C	A	1: 63,125,488 (GRCm39)		probably benign	Het
Irak3	T	G	10: 119,981,687 (GRCm39)	K406T	probably damaging	Het
Kif15	G	A	9: 122,828,275 (GRCm39)	C634Y	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Macrod2	A	T	2: 140,237,636 (GRCm39)	E14V	probably damaging	Het
Matn3	T	A	12: 9,005,374 (GRCm39)	D261E	probably benign	Het
Mdga1	A	T	17: 30,076,710 (GRCm39)		probably benign	Het
Natd1	G	T	11: 60,804,482 (GRCm39)	R24S	probably benign	Het
Ncapd3	T	A	9: 26,962,941 (GRCm39)	D415E	possibly damaging	Het
Or5b101	A	T	19: 13,004,776 (GRCm39)	S306T	probably benign	Het
Parp9	T	A	16: 35,774,106 (GRCm39)	Y81*	probably null	Het
Pde4d	A	G	13: 109,877,007 (GRCm39)	N73S	probably benign	Het
Pigb	A	T	9: 72,941,872 (GRCm39)	I129N	probably damaging	Het
Plxnb1	C	A	9: 108,940,761 (GRCm39)		probably null	Het
Ppfibp1	G	T	6: 146,928,819 (GRCm39)	R813L	probably damaging	Het
Ramp3	T	A	11: 6,608,619 (GRCm39)	L16Q	unknown	Het
Slc35a4	T	C	18: 36,815,688 (GRCm39)	S173P	probably benign	Het
Slc41a1	T	C	1: 131,772,115 (GRCm39)	V415A	probably damaging	Het
Smarcc2	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	10: 128,323,231 (GRCm39)		probably benign	Het
Sptan1	A	T	2: 29,883,736 (GRCm39)		probably benign	Het
Supt20	C	A	3: 54,616,506 (GRCm39)	H254Q	probably benign	Het
Taar7a	A	G	10: 23,869,046 (GRCm39)	C112R	probably damaging	Het
Tbc1d4	T	C	14: 101,745,008 (GRCm39)	Y206C	probably damaging	Het
Tecta	A	G	9: 42,248,504 (GRCm39)	V1961A	probably damaging	Het
Tgfbr1	T	A	4: 47,383,948 (GRCm39)	Y30*	probably null	Het
Tmem71	C	T	15: 66,427,063 (GRCm39)	S44N	probably benign	Het
Tnfrsf1b	C	A	4: 144,954,067 (GRCm39)	C94F	probably damaging	Het
Ttn	A	G	2: 76,579,740 (GRCm39)	Y23718H	probably damaging	Het
Ube2i	T	C	17: 25,484,268 (GRCm39)		probably benign	Het
Vmn2r16	G	T	5: 109,478,391 (GRCm39)	V49F	probably benign	Het
Vps45	A	G	3: 95,953,683 (GRCm39)	I223T	possibly damaging	Het
Zfp955a	T	C	17: 33,461,592 (GRCm39)	Y180C	probably benign	Het
Zhx1	C	G	15: 57,917,470 (GRCm39)	G259R	probably damaging	Het
Zscan18	T	A	7: 12,509,216 (GRCm39)		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
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'- CATGCCCATCTTTCAGACAGG -3'
(R):5'- TGTTCGCAACCTGTCTAGCC -3'

Sequencing Primer
(F):5'- TGCCAGGAAGCGTGCTAG -3'
(R):5'- ATGTAGGAGGGTCAGCCACC -3'

Posted On

2016-07-06