Mutagenetix > Incidental Mutation

Incidental Mutation 'R9326:Sybu'

706546

Institutional Source

Beutler Lab

Gene Symbol

Sybu

Ensembl Gene

ENSMUSG00000022340

Gene Name

syntabulin (syntaxin-interacting)

Synonyms

5730410E15Rik, A830027B17Rik, Golsyn/Syntabulin

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.426) question?

Stock #

R9326 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44535252-44651459 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44537019 bp (GRCm39)

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

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	T	10: 28,849,882 (GRCm39)	Y230*	probably null	Het
Adamts14	A	G	10: 61,036,238 (GRCm39)	S1015P	probably benign	Het
Adamts8	A	G	9: 30,854,886 (GRCm39)	T252A	probably benign	Het
Adamtsl1	T	A	4: 86,150,804 (GRCm39)	S149T	possibly damaging	Het
Afp	A	G	5: 90,652,205 (GRCm39)	K399E	probably damaging	Het
Atp8b1	T	A	18: 64,706,344 (GRCm39)	S222C	probably damaging	Het
Ccdc88c	C	A	12: 100,995,109 (GRCm39)		probably benign	Het
Cfap276	C	T	3: 108,451,931 (GRCm39)	R159W	probably damaging	Het
Cip2a	G	A	16: 48,834,235 (GRCm39)		probably null	Het
Cluh	A	G	11: 74,554,902 (GRCm39)	K780R	probably benign	Het
Cope	C	A	8: 70,755,516 (GRCm39)	F20L	possibly damaging	Het
Cps1	G	T	1: 67,248,795 (GRCm39)	R1174L	probably damaging	Het
Csmd1	G	A	8: 16,049,803 (GRCm39)	T2271I	probably benign	Het
Ctbp2	A	G	7: 132,616,359 (GRCm39)	I192T	probably benign	Het
Dcun1d4	A	G	5: 73,680,018 (GRCm39)	T106A	probably benign	Het
Ddb2	A	T	2: 91,047,559 (GRCm39)	M240K	probably benign	Het
Ddx20	A	T	3: 105,591,735 (GRCm39)	V145D	probably damaging	Het
Ddx31	A	G	2: 28,749,008 (GRCm39)	D268G	probably damaging	Het
Drc7	A	G	8: 95,801,886 (GRCm39)	I716V	probably benign	Het
Epb41l4a	G	T	18: 33,961,261 (GRCm39)	Y424*	probably null	Het
Exog	A	G	9: 119,291,554 (GRCm39)	N277S	probably damaging	Het
Fzd7	T	C	1: 59,522,837 (GRCm39)	L240P	possibly damaging	Het
Gpr87	T	C	3: 59,086,609 (GRCm39)	T299A	probably damaging	Het
Hecw2	A	G	1: 54,079,369 (GRCm39)	Y95H	probably damaging	Het
Idh1	T	C	1: 65,205,416 (GRCm39)	Y183C	probably damaging	Het
Ighv14-4	T	A	12: 114,140,469 (GRCm39)	I7F	possibly damaging	Het
Il1rap	A	T	16: 26,495,641 (GRCm39)	I83F	probably damaging	Het
Jag1	A	G	2: 136,931,745 (GRCm39)	S609P	probably benign	Het
Klhl33	T	C	14: 51,134,615 (GRCm39)	E9G	possibly damaging	Het
Lama2	A	G	10: 26,906,193 (GRCm39)	F2421L	probably benign	Het
Lmod2	A	T	6: 24,597,999 (GRCm39)	I40F	probably damaging	Het
Lsm5	A	T	6: 56,681,616 (GRCm39)	L13Q	possibly damaging	Het
Man2c1	G	T	9: 57,042,904 (GRCm39)	C258F	probably damaging	Het
Mgst1	T	C	6: 138,120,023 (GRCm39)	S28P	probably benign	Het
Msh3	A	T	13: 92,400,307 (GRCm39)	V744E	probably benign	Het
Mtx2	C	T	2: 74,656,287 (GRCm39)		probably benign	Het
N4bp3	C	T	11: 51,535,313 (GRCm39)	R292H	probably benign	Het
Neto2	A	T	8: 86,369,063 (GRCm39)	W354R	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Nutm1	A	T	2: 112,078,692 (GRCm39)	S1074R	possibly damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or10ag56	T	A	2: 87,139,730 (GRCm39)	M219K	probably benign	Het
Or5aq1	T	C	2: 86,966,647 (GRCm39)	H6R	probably benign	Het
Or7g29	A	T	9: 19,286,346 (GRCm39)	M277K	probably damaging	Het
Or8s8	T	C	15: 98,354,935 (GRCm39)	V248A	probably damaging	Het
Pi4kb	T	A	3: 94,900,506 (GRCm39)		probably null	Het
Rgsl1	C	T	1: 153,679,768 (GRCm39)	D103N	probably benign	Het
Rrbp1	G	A	2: 143,806,744 (GRCm39)	T958M	probably damaging	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Setd2	T	C	9: 110,378,671 (GRCm39)	C829R	probably benign	Het
Snd1	A	T	6: 28,795,842 (GRCm39)	R562*	probably null	Het
Snx27	A	T	3: 94,409,369 (GRCm39)	Y526N	probably damaging	Het
Stab2	A	G	10: 86,791,010 (GRCm39)	L483P	probably damaging	Het
Thy1	A	G	9: 43,957,983 (GRCm39)	D37G	probably damaging	Het
Tmed8	A	T	12: 87,221,395 (GRCm39)	I126N	probably damaging	Het
Tmem161b	T	A	13: 84,440,602 (GRCm39)	L340*	probably null	Het
Tpr	C	T	1: 150,301,407 (GRCm39)	A1331V	possibly damaging	Het
Tprg1	G	A	16: 25,136,107 (GRCm39)	E33K	probably benign	Het
Vps26b	T	C	9: 26,930,627 (GRCm39)	N123D	probably damaging	Het
Wdr7	G	A	18: 63,872,260 (GRCm39)	S398N	probably benign	Het
Zbtb48	T	C	4: 152,111,509 (GRCm39)	D2G	probably damaging	Het
Zfp975	G	A	7: 42,311,837 (GRCm39)	R259*	probably null	Het
Zfp986	T	A	4: 145,626,451 (GRCm39)	H370Q	probably damaging	Het

Other mutations in Sybu

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01453:Sybu	APN	15	44,536,201 (GRCm39)	missense	probably damaging	1.00
IGL02211:Sybu	APN	15	44,536,862 (GRCm39)	missense	probably damaging	1.00
IGL02303:Sybu	APN	15	44,536,619 (GRCm39)	missense	probably benign	0.03
E7848:Sybu	UTSW	15	44,536,818 (GRCm39)	missense	probably benign	0.32
R0015:Sybu	UTSW	15	44,536,896 (GRCm39)	missense	probably damaging	0.99
R0015:Sybu	UTSW	15	44,536,896 (GRCm39)	missense	probably damaging	0.99
R0064:Sybu	UTSW	15	44,536,389 (GRCm39)	missense	probably benign	0.00
R0064:Sybu	UTSW	15	44,536,389 (GRCm39)	missense	probably benign	0.00
R0413:Sybu	UTSW	15	44,536,668 (GRCm39)	missense	probably damaging	1.00
R0650:Sybu	UTSW	15	44,536,664 (GRCm39)	missense	probably benign	0.08
R1147:Sybu	UTSW	15	44,609,651 (GRCm39)	missense	probably damaging	1.00
R1147:Sybu	UTSW	15	44,609,651 (GRCm39)	missense	probably damaging	1.00
R1307:Sybu	UTSW	15	44,538,786 (GRCm39)	missense	probably damaging	1.00
R1568:Sybu	UTSW	15	44,582,228 (GRCm39)	nonsense	probably null
R2112:Sybu	UTSW	15	44,536,731 (GRCm39)	missense	probably benign	0.06
R2967:Sybu	UTSW	15	44,609,752 (GRCm39)	missense	probably damaging	1.00
R3120:Sybu	UTSW	15	44,536,355 (GRCm39)	missense	possibly damaging	0.88
R3429:Sybu	UTSW	15	44,609,854 (GRCm39)	missense	probably damaging	0.98
R3508:Sybu	UTSW	15	44,536,478 (GRCm39)	missense	probably damaging	1.00
R3720:Sybu	UTSW	15	44,536,028 (GRCm39)	missense	possibly damaging	0.89
R4080:Sybu	UTSW	15	44,582,339 (GRCm39)	missense	probably damaging	1.00
R4898:Sybu	UTSW	15	44,538,895 (GRCm39)	missense	probably benign	0.02
R4975:Sybu	UTSW	15	44,541,063 (GRCm39)	missense	probably damaging	1.00
R5066:Sybu	UTSW	15	44,541,040 (GRCm39)	missense	probably damaging	1.00
R5783:Sybu	UTSW	15	44,609,810 (GRCm39)	missense	probably damaging	0.96
R5913:Sybu	UTSW	15	44,651,017 (GRCm39)	missense	probably damaging	1.00
R6977:Sybu	UTSW	15	44,541,091 (GRCm39)	missense	probably benign	0.00
R7044:Sybu	UTSW	15	44,541,091 (GRCm39)	missense	possibly damaging	0.79
R7139:Sybu	UTSW	15	44,541,110 (GRCm39)	missense	possibly damaging	0.93
R7328:Sybu	UTSW	15	44,651,190 (GRCm39)	missense	not run
R7543:Sybu	UTSW	15	44,546,848 (GRCm39)	critical splice acceptor site	probably null
R7851:Sybu	UTSW	15	44,609,852 (GRCm39)	nonsense	probably null
R7909:Sybu	UTSW	15	44,536,433 (GRCm39)	nonsense	probably null
R8823:Sybu	UTSW	15	44,540,998 (GRCm39)	missense	possibly damaging	0.91
Z1177:Sybu	UTSW	15	44,536,458 (GRCm39)	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