Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02186:Snph'

283619

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Snph

Ensembl Gene

ENSMUSG00000027457

Gene Name

syntaphilin

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02186

Quality Score

Status

Chromosome

Chromosomal Location

151432469-151474513 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 151436263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 222 (N222D)

Ref Sequence

ENSEMBL: ENSMUSP00000105501 (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

possibly damaging
Transcript: ENSMUST00000028951
AA Change: N222D

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028951
Gene: ENSMUSG00000027457
AA Change: N222D

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
AA Change: N189D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000092026
Gene: ENSMUSG00000027457
AA Change: N189D

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

possibly damaging
Transcript: ENSMUST00000109875
AA Change: N222D

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105501
Gene: ENSMUSG00000027457
AA Change: N222D

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
AA Change: N153D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000105503
Gene: ENSMUSG00000027457
AA Change: N153D

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

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 66,145,811 (GRCm39)	F100S	unknown	Het
Abca3	A	G	17: 24,596,714 (GRCm39)	Y389C	possibly damaging	Het
Acrbp	G	T	6: 125,031,773 (GRCm39)		probably null	Het
Adam21	G	A	12: 81,605,983 (GRCm39)	T593I	possibly damaging	Het
Adipor1	T	A	1: 134,353,698 (GRCm39)	M161K	probably benign	Het
Agrp	A	T	8: 106,293,821 (GRCm39)	N48K	probably benign	Het
Asprv1	A	T	6: 86,605,900 (GRCm39)	M249L	probably damaging	Het
Begain	A	G	12: 108,999,278 (GRCm39)	Y703H	probably damaging	Het
Bspry	T	A	4: 62,414,226 (GRCm39)		probably benign	Het
Cct8l1	T	G	5: 25,721,836 (GRCm39)	S184A	probably benign	Het
Cdk13	C	T	13: 17,947,112 (GRCm39)	V549I	probably benign	Het
Cdyl2	C	T	8: 117,306,025 (GRCm39)	R412Q	possibly damaging	Het
Celf6	T	C	9: 59,510,808 (GRCm39)	S205P	probably damaging	Het
Cltc	G	A	11: 86,595,811 (GRCm39)	A1263V	possibly damaging	Het
Cltc	C	A	11: 86,595,812 (GRCm39)	A1263S	possibly damaging	Het
Ctnnd2	T	A	15: 30,480,939 (GRCm39)	F62L	probably damaging	Het
Dlec1	T	A	9: 118,972,695 (GRCm39)	C1473S	probably benign	Het
Dmbt1	T	A	7: 130,694,986 (GRCm39)		probably benign	Het
Dnase1	G	A	16: 3,856,896 (GRCm39)	V176I	probably benign	Het
Dusp1	G	T	17: 26,726,032 (GRCm39)	Y220*	probably null	Het
Enpp3	A	C	10: 24,667,881 (GRCm39)		probably benign	Het
Exosc10	T	C	4: 148,649,755 (GRCm39)	L395P	probably damaging	Het
Fn1	T	C	1: 71,677,693 (GRCm39)	K533R	probably damaging	Het
Gcm2	T	A	13: 41,258,125 (GRCm39)	T168S	possibly damaging	Het
Gm9924	C	A	5: 31,252,491 (GRCm39)		probably benign	Het
Ifrd1	A	G	12: 40,264,092 (GRCm39)	V101A	probably benign	Het
Iqsec1	G	T	6: 90,653,859 (GRCm39)	Q629K	probably damaging	Het
Kcnma1	T	A	14: 23,576,881 (GRCm39)	M254L	probably benign	Het
Krit1	T	C	5: 3,859,733 (GRCm39)		probably benign	Het
Letm1	T	C	5: 33,902,391 (GRCm39)	K633E	probably benign	Het
Mfsd1	A	G	3: 67,503,928 (GRCm39)	I307V	probably benign	Het
Mtrr	T	C	13: 68,712,476 (GRCm39)	T637A	probably benign	Het
Naxe	C	A	3: 87,964,305 (GRCm39)	D212Y	probably damaging	Het
Nlk	A	T	11: 78,477,762 (GRCm39)	V327D	probably damaging	Het
Or2f1b	A	G	6: 42,739,880 (GRCm39)	K298R	probably null	Het
Or5w11	A	T	2: 87,459,715 (GRCm39)	I187F	probably benign	Het
Pdzd8	C	T	19: 59,289,060 (GRCm39)	G780D	probably damaging	Het
Prune1	T	C	3: 95,166,548 (GRCm39)		probably benign	Het
Qser1	A	T	2: 104,618,606 (GRCm39)	H645Q	probably damaging	Het
Rd3l	A	G	12: 111,945,901 (GRCm39)	Y193H	probably benign	Het
Reln	A	G	5: 22,114,956 (GRCm39)	Y3119H	probably damaging	Het
Scel	C	T	14: 103,802,257 (GRCm39)	A219V	probably benign	Het
Skint11	A	T	4: 114,101,833 (GRCm39)	Q91L	possibly damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Slc5a5	C	A	8: 71,338,764 (GRCm39)	D516Y	possibly damaging	Het
Slc8b1	G	A	5: 120,665,928 (GRCm39)		probably null	Het
Slc9a3	A	G	13: 74,311,233 (GRCm39)	E576G	possibly damaging	Het
Slco1b2	A	T	6: 141,580,271 (GRCm39)		probably benign	Het
Smc5	A	G	19: 23,209,223 (GRCm39)	V647A	probably damaging	Het
Srbd1	A	G	17: 86,416,659 (GRCm39)	F500L	probably benign	Het
Stxbp6	T	C	12: 44,948,806 (GRCm39)	D101G	probably damaging	Het
Taar7b	A	G	10: 23,875,879 (GRCm39)	I15V	probably benign	Het
Tdrd12	G	T	7: 35,200,826 (GRCm39)	N338K	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Tmem219	A	T	7: 126,495,988 (GRCm39)	D128E	probably benign	Het
Togaram2	A	G	17: 71,992,166 (GRCm39)	T3A	possibly damaging	Het
Ttn	C	T	2: 76,724,627 (GRCm39)		probably benign	Het
Uchl1	C	A	5: 66,834,382 (GRCm39)	C47*	probably null	Het
Unc79	T	G	12: 102,977,542 (GRCm39)	S182A	probably benign	Het
Vmn2r1	A	G	3: 63,989,138 (GRCm39)	T26A	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Vps54	T	C	11: 21,256,947 (GRCm39)	V685A	probably damaging	Het
Zcchc7	T	G	4: 44,762,250 (GRCm39)	V126G	possibly damaging	Het
Zmym2	A	G	14: 57,180,808 (GRCm39)	T907A	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
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
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

Posted On

2015-04-16