Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Sybu'

34427

Institutional Source

Beutler Lab

Gene Symbol

Sybu

Ensembl Gene

ENSMUSG00000022340

Gene Name

syntabulin (syntaxin-interacting)

Synonyms

A830027B17Rik, Golsyn/Syntabulin, 5730410E15Rik

MMRRC Submission

038356-MU

Accession Numbers

Genbank: NM_176998 ; MGI: 2442392

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R0064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44671856-44788063 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44672993 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 646 (T646S)

Ref Sequence

ENSEMBL: ENSMUSP00000087511 (fasta)

Gene Model

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

AlphaFold

Q8BHS8

Predicted Effect

probably benign
Transcript: ENSMUST00000090057
AA Change: T646S

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

SMART Domains

Protein: ENSMUSP00000087511
Gene: ENSMUSG00000022340
AA Change: T646S

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: T518S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105896
Gene: ENSMUSG00000022340
AA Change: T518S

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: T446S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105898
Gene: ENSMUSG00000022340
AA Change: T446S

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: T517S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000228057
AA Change: T518S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	C	11: 110,144,871	L641R	probably damaging	Het
Abca9	G	T	11: 110,144,872	L641M	probably damaging	Het
Abhd18	A	G	3: 40,933,853	I377M	probably benign	Het
Arhgef17	C	A	7: 100,881,354	M1408I	probably benign	Het
Bcl2a1a	G	C	9: 88,957,463	G138A	probably damaging	Het
C4b	A	G	17: 34,738,856	L617P	probably damaging	Het
Ccdc25	T	A	14: 65,854,112	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,345,077	D101G	probably benign	Het
Cdon	A	G	9: 35,489,227	H1079R	probably benign	Het
Cep126	A	T	9: 8,130,182		probably benign	Het
Cic	T	A	7: 25,287,140	S1299T	probably damaging	Het
Cic	C	A	7: 25,287,141	S1299Y	probably damaging	Het
Clstn1	G	A	4: 149,634,796	V361M	probably damaging	Het
Crlf3	A	G	11: 80,057,902	I239T	possibly damaging	Het
Cstf2t	T	A	19: 31,083,299	N78K	probably damaging	Het
Cul1	A	G	6: 47,502,415		probably benign	Het
D430041D05Rik	T	G	2: 104,249,157	T1194P	probably damaging	Het
Fbp2	A	T	13: 62,854,048	F118I	probably damaging	Het
Fbxw14	A	T	9: 109,287,592	Y16*	probably null	Het
Fgd3	T	G	13: 49,296,425	D116A	possibly damaging	Het
Gm7168	C	T	17: 13,949,859	T496I	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Klhl5	T	A	5: 65,141,288	S137T	probably benign	Het
Knl1	T	A	2: 119,076,243	N1604K	probably benign	Het
Lpcat1	T	A	13: 73,514,466	N463K	probably damaging	Het
Lpl	A	G	8: 68,892,704	H120R	probably damaging	Het
Man1a2	A	T	3: 100,591,883	S412T	possibly damaging	Het
Mcc	C	G	18: 44,519,516		probably benign	Het
Myo18a	G	T	11: 77,847,344	R1704L	probably damaging	Het
Nlrc3	G	T	16: 3,964,087	T486K	possibly damaging	Het
Nrip1	T	A	16: 76,294,670		probably benign	Het
Nutf2	A	G	8: 105,878,809	D92G	probably damaging	Het
Obscn	A	C	11: 59,027,466	V6260G	probably damaging	Het
Olfr320	G	A	11: 58,684,475	V201M	probably benign	Het
Olfr714	T	C	7: 107,074,280	F151L	probably benign	Het
Plce1	T	C	19: 38,780,784		probably null	Het
Pmpca	C	A	2: 26,395,507	D498E	probably benign	Het
Pnpla7	G	T	2: 24,997,227	E28*	probably null	Het
Polg	C	A	7: 79,461,884	W206C	probably damaging	Het
Ptprt	C	T	2: 161,927,791		probably benign	Het
Slc7a14	T	C	3: 31,227,060	D367G	probably damaging	Het
Spata31	T	C	13: 64,922,098	Y687H	probably damaging	Het
Thbs1	A	T	2: 118,123,914		probably null	Het
Tie1	A	G	4: 118,489,701	V2A	possibly damaging	Het
Tma16	A	T	8: 66,476,805	I179K	possibly damaging	Het
Tns3	G	A	11: 8,435,856	Q1381*	probably null	Het
Trank1	A	G	9: 111,343,195	D84G	probably damaging	Het
Ttc3	A	T	16: 94,422,247	H197L	possibly damaging	Het
Urb1	A	G	16: 90,779,140	F843L	probably benign	Het
Vmn1r24	T	G	6: 57,956,018	I172L	probably benign	Het
Vmn2r1	T	A	3: 64,104,788	I690N	possibly damaging	Het
Vmn2r111	T	A	17: 22,572,072	I82L	probably benign	Het
Zfp287	A	T	11: 62,714,938	L370H	possibly damaging	Het
Zfp608	A	T	18: 54,898,816	I684N	probably benign	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
IGL02303:Sybu	APN	15	44673223	missense	probably benign	0.03
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
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
R7851:Sybu	UTSW	15	44746456	nonsense	probably null
R7909:Sybu	UTSW	15	44673037	nonsense	probably null
R8823:Sybu	UTSW	15	44677602	missense	possibly damaging	0.91
R9326:Sybu	UTSW	15	44673623	missense	probably damaging	1.00
Z1177:Sybu	UTSW	15	44673062	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGATCCACCAAGAAATTGCTGCTCC -3'
(R):5'- TTCATTCCACTCCAGGGCCACAAG -3'

Sequencing Primer
(F):5'- GTAGGCTGCAAAATCTAGCTCTC -3'
(R):5'- AGCCCTCAAGGCTCTCC -3'

Posted On

2013-05-09