Mutagenetix > Incidental Mutations

Incidental Mutation 'R1147:Sybu'

102501

Institutional Source

Beutler Lab

Gene Symbol

Sybu

Ensembl Gene

ENSMUSG00000022340

Gene Name

syntabulin (syntaxin-interacting)

Synonyms

A830027B17Rik, Golsyn/Syntabulin, 5730410E15Rik

MMRRC Submission

039220-MU

Accession Numbers

Genbank: NM_176998 ; MGI: 2442392

Is this an essential gene?

Possibly non essential (E-score: 0.336) question?

Stock #

R1147 (G1)

Quality Score

213

Status

Not validated

Chromosome

Chromosomal Location

44671856-44788063 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44746255 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 78 (F78I)

Ref Sequence

ENSEMBL: ENSMUSP00000153759 (fasta)

Gene Model

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

AlphaFold

Q8BHS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000090057
AA Change: F206I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087511
Gene: ENSMUSG00000022340
AA Change: F206I

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 damaging
Transcript: ENSMUST00000110267
AA Change: F78I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105896
Gene: ENSMUSG00000022340
AA Change: F78I

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

SMART Domains

Protein: ENSMUSP00000105898
Gene: ENSMUSG00000022340

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 damaging
Transcript: ENSMUST00000227305
AA Change: F77I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228057
AA Change: F78I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.1390

Coding Region Coverage

1x: 99.4%
3x: 97.7%
10x: 89.5%
20x: 66.1%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530032D15Rik	C	G	1: 85,099,505	K113N	probably benign	Het
Adam20	T	C	8: 40,795,618	I255T	possibly damaging	Het
Aknad1	T	A	3: 108,752,541	N290K	possibly damaging	Het
Als2cr12	A	T	1: 58,669,463	Y215N	probably damaging	Het
Ano8	C	A	8: 71,482,017	V447F	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Ash1l	A	T	3: 88,984,887	M1358L	possibly damaging	Het
Ccdc110	A	G	8: 45,944,084	K837E	possibly damaging	Het
Cd19	T	A	7: 126,411,045	D384V	possibly damaging	Het
Ces1f	C	T	8: 93,258,281	V473I	possibly damaging	Het
Chd6	C	T	2: 160,990,271	E994K	probably damaging	Het
Col5a2	G	T	1: 45,376,771	N1405K	probably damaging	Het
Dnah7b	A	G	1: 46,340,266	D3720G	probably damaging	Het
Dsel	T	C	1: 111,862,209	T199A	possibly damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Hrg	G	T	16: 22,961,004	C344F	probably damaging	Het
Htt	T	C	5: 34,851,252	Y1462H	probably damaging	Het
Kcnh2	T	A	5: 24,324,387	I784F	probably damaging	Het
Kifc3	T	C	8: 95,137,918	T55A	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Olfr434	A	T	6: 43,217,212	T100S	probably damaging	Het
Olfr692	G	A	7: 105,369,277	R308Q	probably benign	Het
Oog3	A	G	4: 144,158,412	F318S	possibly damaging	Het
Pde5a	C	T	3: 122,794,313	T376M	probably damaging	Het
Pkhd1l1	A	G	15: 44,537,441	I2204V	probably null	Het
Ppp1r13l	A	G	7: 19,375,847	D731G	probably damaging	Het
Ptk6	C	T	2: 181,195,797	G443D	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,423,504	D749G	probably damaging	Het
Ralgapa1	A	T	12: 55,702,480	D1212E	probably damaging	Het
Rsad1	T	C	11: 94,544,140	Y290C	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,177,419		probably benign	Het
Slc6a11	T	A	6: 114,244,870	I507N	possibly damaging	Het
Tox	A	T	4: 6,823,055	N87K	possibly damaging	Het
Trrap	G	A	5: 144,804,766	G1308R	probably damaging	Het
Trub2	A	G	2: 29,787,632		probably benign	Het
Vmn2r114	A	T	17: 23,311,063	H123Q	probably benign	Het
Vmn2r15	T	A	5: 109,293,206	Y262F	probably damaging	Het
Vmn2r33	C	T	7: 7,554,145	E519K	probably benign	Het
Zfp106	A	T	2: 120,520,536	C1545S	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
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
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
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

Posted On

2014-01-15