Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02303:Sybu'

287482

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sybu

Ensembl Gene

ENSMUSG00000022340

Gene Name

syntabulin (syntaxin-interacting)

Synonyms

A830027B17Rik, Golsyn/Syntabulin, 5730410E15Rik

Accession Numbers

Genbank: NM_176998 ; MGI: 2442392

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

IGL02303

Quality Score

Status

Chromosome

Chromosomal Location

44671856-44788063 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44673223 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 441 (E441G)

Ref Sequence

ENSEMBL: ENSMUSP00000153759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090057] [ENSMUST00000110267] [ENSMUST00000110269] [ENSMUST00000226214] [ENSMUST00000227305] [ENSMUST00000228057]

Predicted Effect

probably benign
Transcript: ENSMUST00000090057
AA Change: E569G

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

SMART Domains

Protein: ENSMUSP00000087511
Gene: ENSMUSG00000022340
AA Change: E569G

Domain	Start	End	E-Value	Type
low complexity region	51	61	N/A	INTRINSIC
low complexity region	112	120	N/A	INTRINSIC
low complexity region	148	163	N/A	INTRINSIC
low complexity region	174	205	N/A	INTRINSIC
low complexity region	264	275	N/A	INTRINSIC
low complexity region	276	290	N/A	INTRINSIC
low complexity region	320	331	N/A	INTRINSIC
Pfam:Syntaphilin	343	638	3.5e-142	PFAM
low complexity region	738	755	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110267
AA Change: E441G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105896
Gene: ENSMUSG00000022340
AA Change: E441G

Domain	Start	End	E-Value	Type
low complexity region	20	35	N/A	INTRINSIC
low complexity region	46	77	N/A	INTRINSIC
low complexity region	136	147	N/A	INTRINSIC
low complexity region	148	162	N/A	INTRINSIC
low complexity region	192	203	N/A	INTRINSIC
Pfam:Syntaphilin	214	511	5.8e-140	PFAM
low complexity region	610	627	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110269
AA Change: E369G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105898
Gene: ENSMUSG00000022340
AA Change: E369G

Domain	Start	End	E-Value	Type
low complexity region	64	75	N/A	INTRINSIC
low complexity region	76	90	N/A	INTRINSIC
low complexity region	120	131	N/A	INTRINSIC
Pfam:Syntaphilin	142	439	4.4e-140	PFAM
low complexity region	538	555	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226214

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226825

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227081

Predicted Effect

probably benign
Transcript: ENSMUST00000227305
AA Change: E440G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000228057
AA Change: E441G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Syntabulin/GOLSYN is part of a kinesin motor-adaptor complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development (Cai et al., 2007 [PubMed 17611281]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,154,550	F319S	probably damaging	Het
Ap3b1	A	G	13: 94,528,319	D922G	unknown	Het
Bhlhe41	A	T	6: 145,864,156	H107Q	probably damaging	Het
Csmd2	C	A	4: 128,369,008	H662Q	probably benign	Het
Dnah8	T	C	17: 30,713,047	V1463A	probably benign	Het
Ebf3	A	T	7: 137,309,365	V140E	probably benign	Het
Havcr2	T	A	11: 46,479,281		probably benign	Het
Hexb	G	A	13: 97,176,893	A485V	probably damaging	Het
Igkv5-37	T	A	6: 69,963,489	Q57L	probably damaging	Het
Ipo5	T	A	14: 120,917,383	S40T	probably benign	Het
Kcnj8	A	G	6: 142,570,111	M90T	probably benign	Het
Kif21b	T	A	1: 136,159,757	L937Q	probably damaging	Het
Kmt2c	A	C	5: 25,310,157	L2896R	probably damaging	Het
Ldlrap1	A	T	4: 134,757,395	I96N	probably damaging	Het
Leo1	A	G	9: 75,445,999		probably benign	Het
Mbnl2	T	C	14: 120,404,647	M341T	probably benign	Het
Nfatc2	G	A	2: 168,506,901	R669*	probably null	Het
Nhlrc2	T	A	19: 56,574,848	V293E	probably damaging	Het
Olfr23	T	C	11: 73,940,450	F68S	possibly damaging	Het
Olfr521	A	G	7: 99,767,972	D270G	possibly damaging	Het
Olfr610	A	T	7: 103,506,088	M286K	probably benign	Het
Olfr632	A	G	7: 103,937,563	Q61R	possibly damaging	Het
Otoa	T	A	7: 121,132,924		probably null	Het
Pcnt	T	C	10: 76,442,559		probably benign	Het
Recql4	G	T	15: 76,708,571	Q307K	possibly damaging	Het
Sp140	T	A	1: 85,643,009	Y453*	probably null	Het
Sspo	G	A	6: 48,484,705	V3600I	possibly damaging	Het
Syne3	A	T	12: 104,963,294	H222Q	probably damaging	Het
Tef	T	C	15: 81,821,295	V173A	probably benign	Het
Tlcd1	A	G	11: 78,180,334		probably null	Het
Tmod4	C	A	3: 95,125,642	Q30K	probably benign	Het
Tpgs1	T	C	10: 79,675,488	Y155H	probably damaging	Het
Trib3	G	A	2: 152,343,150	P60S	probably benign	Het
Ttn	T	A	2: 76,730,206	T20957S	probably damaging	Het
Vars	T	C	17: 35,015,484		probably benign	Het
Vps13c	T	C	9: 67,945,481		probably benign	Het
Zc3h4	T	C	7: 16,434,077	S704P	unknown	Het
Zfp644	G	A	5: 106,637,314	R456W	probably damaging	Het

Other mutations in Sybu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01453:Sybu	APN	15	44672805	missense	probably damaging	1.00
IGL02211:Sybu	APN	15	44673466	missense	probably damaging	1.00
E7848:Sybu	UTSW	15	44673422	missense	probably benign	0.32
R0015:Sybu	UTSW	15	44673500	missense	probably damaging	0.99
R0015:Sybu	UTSW	15	44673500	missense	probably damaging	0.99
R0064:Sybu	UTSW	15	44672993	missense	probably benign	0.00
R0064:Sybu	UTSW	15	44672993	missense	probably benign	0.00
R0413:Sybu	UTSW	15	44673272	missense	probably damaging	1.00
R0650:Sybu	UTSW	15	44673268	missense	probably benign	0.08
R1147:Sybu	UTSW	15	44746255	missense	probably damaging	1.00
R1147:Sybu	UTSW	15	44746255	missense	probably damaging	1.00
R1307:Sybu	UTSW	15	44675390	missense	probably damaging	1.00
R1568:Sybu	UTSW	15	44718832	nonsense	probably null
R2112:Sybu	UTSW	15	44673335	missense	probably benign	0.06
R2967:Sybu	UTSW	15	44746356	missense	probably damaging	1.00
R3120:Sybu	UTSW	15	44672959	missense	possibly damaging	0.88
R3429:Sybu	UTSW	15	44746458	missense	probably damaging	0.98
R3508:Sybu	UTSW	15	44673082	missense	probably damaging	1.00
R3720:Sybu	UTSW	15	44672632	missense	possibly damaging	0.89
R4080:Sybu	UTSW	15	44718943	missense	probably damaging	1.00
R4898:Sybu	UTSW	15	44675499	missense	probably benign	0.02
R4975:Sybu	UTSW	15	44677667	missense	probably damaging	1.00
R5066:Sybu	UTSW	15	44677644	missense	probably damaging	1.00
R5783:Sybu	UTSW	15	44746414	missense	probably damaging	0.96
R5913:Sybu	UTSW	15	44787621	missense	probably damaging	1.00
R6977:Sybu	UTSW	15	44677695	missense	probably benign	0.00
R7044:Sybu	UTSW	15	44677695	missense	possibly damaging	0.79
R7139:Sybu	UTSW	15	44677714	missense	possibly damaging	0.93
R7328:Sybu	UTSW	15	44787794	missense	not run
R7543:Sybu	UTSW	15	44683452	critical splice acceptor site	probably null

Posted On

2015-04-16