Mutagenetix > Incidental Mutation

Incidental Mutation 'R9326:Sybu'

706546

Institutional Source

Beutler Lab

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?

Possibly non essential (E-score: 0.383) question?

Stock #

R9326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44671856-44788063 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44673623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 436 (S436P)

Ref Sequence

ENSEMBL: ENSMUSP00000087511 (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: S436P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000087511
Gene: ENSMUSG00000022340
AA Change: S436P

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: S308P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105896
Gene: ENSMUSG00000022340
AA Change: S308P

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 damaging
Transcript: ENSMUST00000110269
AA Change: S236P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105898
Gene: ENSMUSG00000022340
AA Change: S236P

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

probably damaging
Transcript: ENSMUST00000227305
AA Change: S307P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228057
AA Change: S308P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013F07Rik	C	T	3: 108,544,615	R159W	probably damaging	Het
2310057J18Rik	A	T	10: 28,973,886	Y230*	probably null	Het
Adamts14	A	G	10: 61,200,459	S1015P	probably benign	Het
Adamts8	A	G	9: 30,943,590	T252A	probably benign	Het
Adamtsl1	T	A	4: 86,232,567	S149T	possibly damaging	Het
Afp	A	G	5: 90,504,346	K399E	probably damaging	Het
Atp8b1	T	A	18: 64,573,273	S222C	probably damaging	Het
C330027C09Rik	G	A	16: 49,013,872		probably null	Het
Ccdc88c	C	A	12: 101,028,850		probably benign	Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 115,012,431		probably benign	Het
Cluh	A	G	11: 74,664,076	K780R	probably benign	Het
Cope	C	A	8: 70,302,866	F20L	possibly damaging	Het
Cps1	G	T	1: 67,209,636	R1174L	probably damaging	Het
Csmd1	G	A	8: 15,999,803	T2271I	probably benign	Het
Ctbp2	A	G	7: 133,014,630	I192T	probably benign	Het
Dcun1d4	A	G	5: 73,522,675	T106A	probably benign	Het
Ddb2	A	T	2: 91,217,214	M240K	probably benign	Het
Ddx20	A	T	3: 105,684,419	V145D	probably damaging	Het
Ddx31	A	G	2: 28,858,996	D268G	probably damaging	Het
Drc7	A	G	8: 95,075,258	I716V	probably benign	Het
Epb41l4a	G	T	18: 33,828,208	Y424*	probably null	Het
Exog	A	G	9: 119,462,488	N277S	probably damaging	Het
Fzd7	T	C	1: 59,483,678	L240P	possibly damaging	Het
Gpr87	T	C	3: 59,179,188	T299A	probably damaging	Het
Hecw2	A	G	1: 54,040,210	Y95H	probably damaging	Het
Idh1	T	C	1: 65,166,257	Y183C	probably damaging	Het
Ighv14-4	T	A	12: 114,176,849	I7F	possibly damaging	Het
Il1rap	A	T	16: 26,676,891	I83F	probably damaging	Het
Jag1	A	G	2: 137,089,825	S609P	probably benign	Het
Klhl33	T	C	14: 50,897,158	E9G	possibly damaging	Het
Lama2	A	G	10: 27,030,197	F2421L	probably benign	Het
Lmod2	A	T	6: 24,598,000	I40F	probably damaging	Het
Lsm5	A	T	6: 56,704,631	L13Q	possibly damaging	Het
Man2c1	G	T	9: 57,135,620	C258F	probably damaging	Het
Mgst1	T	C	6: 138,143,025	S28P	probably benign	Het
Msh3	A	T	13: 92,263,799	V744E	probably benign	Het
Mtx2	C	T	2: 74,825,943		probably benign	Het
N4bp3	C	T	11: 51,644,486	R292H	probably benign	Het
Neto2	A	T	8: 85,642,434	W354R	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nos1	G	C	5: 117,879,337	R255P	probably benign	Het
Nup98	C	A	7: 102,138,830	R1011L	probably benign	Het
Nutm1	A	T	2: 112,248,347	S1074R	possibly damaging	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Olfr1110	T	C	2: 87,136,303	H6R	probably benign	Het
Olfr1118	T	A	2: 87,309,386	M219K	probably benign	Het
Olfr281	T	C	15: 98,457,054	V248A	probably damaging	Het
Olfr847	A	T	9: 19,375,050	M277K	probably damaging	Het
Pi4kb	T	A	3: 94,993,195		probably null	Het
Rgsl1	C	T	1: 153,804,022	D103N	probably benign	Het
Rrbp1	G	A	2: 143,964,824	T958M	probably damaging	Het
S100a13	G	T	3: 90,515,863	D54Y	unknown	Het
Setd2	T	C	9: 110,549,603	C829R	probably benign	Het
Snd1	A	T	6: 28,795,843	R562*	probably null	Het
Snx27	A	T	3: 94,502,062	Y526N	probably damaging	Het
Stab2	A	G	10: 86,955,146	L483P	probably damaging	Het
Thy1	A	G	9: 44,046,686	D37G	probably damaging	Het
Tmed8	A	T	12: 87,174,621	I126N	probably damaging	Het
Tmem161b	T	A	13: 84,292,483	L340*	probably null	Het
Tpr	C	T	1: 150,425,656	A1331V	possibly damaging	Het
Tprg	G	A	16: 25,317,357	E33K	probably benign	Het
Vps26b	T	C	9: 27,019,331	N123D	probably damaging	Het
Wdr7	G	A	18: 63,739,189	S398N	probably benign	Het
Zbtb48	T	C	4: 152,027,052	D2G	probably damaging	Het
Zfp975	G	A	7: 42,662,413	R259*	probably null	Het
Zfp986	T	A	4: 145,899,881	H370Q	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
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
Z1177:Sybu	UTSW	15	44673062	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGCCATCTCCATGCTTTGAAG -3'
(R):5'- AGTTCCCTGGCTAATACTTGC -3'

Sequencing Primer
(F):5'- GAAGCAGAGACTCCAGTTTCTTG -3'
(R):5'- GTTCCCTGGCTAATACTTGCCAAAAC -3'

Posted On

2022-04-18