Mutagenetix > Incidental Mutation

Incidental Mutation 'R2112:Sybu'

232697

Institutional Source

Beutler Lab

Gene Symbol

Sybu

Ensembl Gene

ENSMUSG00000022340

Gene Name

syntabulin (syntaxin-interacting)

Synonyms

5730410E15Rik, A830027B17Rik, Golsyn/Syntabulin

MMRRC Submission

040116-MU

Accession Numbers

Essential gene?

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

Stock #

R2112 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44535252-44651459 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44536731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 532 (S532G)

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: S532G

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000087511
Gene: ENSMUSG00000022340
AA Change: S532G

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: S404G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105896
Gene: ENSMUSG00000022340
AA Change: S404G

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: S332G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000105898
Gene: ENSMUSG00000022340
AA Change: S332G

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: S403G

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000228057
AA Change: S404G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1b	A	G	5: 121,638,777 (GRCm39)		probably benign	Het
Adprhl1	A	G	8: 13,298,694 (GRCm39)	Y79H	probably damaging	Het
Ambra1	T	A	2: 91,706,132 (GRCm39)	W746R	probably damaging	Het
Ankhd1	A	T	18: 36,774,679 (GRCm39)	K1420I	probably damaging	Het
Ap1b1	T	C	11: 4,965,613 (GRCm39)	F51L	probably damaging	Het
Arhgap24	A	C	5: 103,040,366 (GRCm39)	R434S	probably damaging	Het
Arhgap29	T	C	3: 121,805,210 (GRCm39)	L525P	probably benign	Het
Arpc1b	T	C	5: 145,060,579 (GRCm39)	Y124H	probably damaging	Het
Arr3	T	A	X: 99,658,247 (GRCm39)	F269L	possibly damaging	Het
Atp11b	G	T	3: 35,891,677 (GRCm39)	V830F	probably damaging	Het
Ccdc71l	T	A	12: 32,429,229 (GRCm39)	F83I	probably damaging	Het
Cdh23	G	T	10: 60,141,362 (GRCm39)	F3127L	probably damaging	Het
Cfap251	G	A	5: 123,392,438 (GRCm39)		probably benign	Het
Cldn15	T	A	5: 136,997,016 (GRCm39)	M19K	possibly damaging	Het
Cog4	A	G	8: 111,585,214 (GRCm39)	Y292C	possibly damaging	Het
Col12a1	A	G	9: 79,551,181 (GRCm39)	V2145A	possibly damaging	Het
Col5a3	T	C	9: 20,721,073 (GRCm39)	I110V	unknown	Het
Cps1	T	A	1: 67,216,139 (GRCm39)	D821E	probably benign	Het
Crnkl1	A	T	2: 145,772,617 (GRCm39)	Y153*	probably null	Het
Dock10	T	A	1: 80,483,359 (GRCm39)	K2082M	probably damaging	Het
Dock10	T	C	1: 80,483,360 (GRCm39)	K2083E	probably damaging	Het
Dst	T	C	1: 34,208,259 (GRCm39)	S737P	probably damaging	Het
Dthd1	T	C	5: 63,000,222 (GRCm39)	S515P	probably damaging	Het
Dthd1	T	C	5: 62,979,251 (GRCm39)	Y304H	probably damaging	Het
Etf1	A	T	18: 35,042,154 (GRCm39)		probably null	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Galt	A	G	4: 41,758,245 (GRCm39)	T337A	probably benign	Het
Gbp4	A	G	5: 105,283,042 (GRCm39)	L76P	possibly damaging	Het
Gcfc2	C	A	6: 81,900,759 (GRCm39)	D24E	probably benign	Het
Gigyf2	A	G	1: 87,368,452 (GRCm39)	H1044R	probably damaging	Het
Glg1	T	C	8: 111,919,178 (GRCm39)	D315G	probably damaging	Het
Gm4787	C	T	12: 81,424,607 (GRCm39)	C517Y	probably damaging	Het
Gnl3l	A	G	X: 149,780,290 (GRCm39)	S217P	probably damaging	Het
Gpr37	T	C	6: 25,669,380 (GRCm39)	Y488C	possibly damaging	Het
Hap1	T	C	11: 100,244,825 (GRCm39)	D240G	probably benign	Het
Hhla1	C	G	15: 65,808,232 (GRCm39)	W271S	probably benign	Het
Hmgxb3	T	C	18: 61,288,458 (GRCm39)	R470G	possibly damaging	Het
Inpp5a	A	G	7: 139,154,877 (GRCm39)	D332G	probably damaging	Het
Insr	A	G	8: 3,219,748 (GRCm39)	S925P	probably benign	Het
Isoc2b	T	A	7: 4,852,474 (GRCm39)	D171V	probably damaging	Het
Kif20b	T	C	19: 34,909,132 (GRCm39)	I223T	probably benign	Het
Krt6b	T	C	15: 101,586,999 (GRCm39)	T258A	possibly damaging	Het
Lipo4	G	A	19: 33,488,926 (GRCm39)	P219L	probably benign	Het
Luc7l	T	C	17: 26,474,101 (GRCm39)		probably null	Het
Madd	T	C	2: 91,007,321 (GRCm39)	K264E	possibly damaging	Het
Mcf2l	A	T	8: 13,051,867 (GRCm39)	K433N	probably damaging	Het
Mob3b	A	T	4: 35,083,795 (GRCm39)	N131K	probably damaging	Het
Mtus1	G	T	8: 41,475,608 (GRCm39)	P819T	probably damaging	Het
Myo15a	T	C	11: 60,384,994 (GRCm39)	F1699L	probably damaging	Het
Nav1	C	T	1: 135,376,742 (GRCm39)	R1694Q	probably damaging	Het
Neb	G	C	2: 52,218,776 (GRCm39)	T78S	probably damaging	Het
Nek2	T	C	1: 191,559,320 (GRCm39)	V275A	probably benign	Het
Nfatc1	A	T	18: 80,678,879 (GRCm39)	C836*	probably null	Het
Nos1	T	C	5: 118,074,636 (GRCm39)	V1060A	probably benign	Het
Notch3	T	A	17: 32,363,584 (GRCm39)	I1160F	probably benign	Het
Nox4	T	C	7: 87,021,216 (GRCm39)	L476P	probably damaging	Het
Npc1	A	T	18: 12,346,529 (GRCm39)	N222K	possibly damaging	Het
Nrn1l	C	A	8: 106,621,378 (GRCm39)	H109Q	possibly damaging	Het
Or4c11	T	C	2: 88,695,545 (GRCm39)	S199P	possibly damaging	Het
Or4k15	G	T	14: 50,364,080 (GRCm39)	L15F	probably damaging	Het
Or6d13	T	C	6: 116,517,611 (GRCm39)	Y66H	possibly damaging	Het
Or7a41	T	C	10: 78,871,248 (GRCm39)	L206P	probably damaging	Het
Or8g27	T	C	9: 39,129,075 (GRCm39)	Y141H	probably benign	Het
Or8g33	C	A	9: 39,337,966 (GRCm39)	V134L	probably benign	Het
Pcnt	T	C	10: 76,256,360 (GRCm39)	K627E	probably damaging	Het
Plch1	T	A	3: 63,630,227 (GRCm39)	T514S	probably damaging	Het
Ppargc1b	G	A	18: 61,444,321 (GRCm39)	P297S	probably benign	Het
Ppig	A	G	2: 69,580,451 (GRCm39)	T662A	unknown	Het
Prdm2	A	C	4: 142,858,506 (GRCm39)	S1595A	probably benign	Het
Ptpn5	T	A	7: 46,732,890 (GRCm39)	T318S	probably benign	Het
Ralgps2	A	G	1: 156,660,278 (GRCm39)	Y265H	probably damaging	Het
Seh1l	T	C	18: 67,920,249 (GRCm39)	I182T	probably damaging	Het
Slc12a6	T	C	2: 112,186,830 (GRCm39)	I943T	probably damaging	Het
Slc5a5	A	T	8: 71,342,395 (GRCm39)		probably null	Het
Sparcl1	T	A	5: 104,236,289 (GRCm39)	Q488L	probably damaging	Het
Sphkap	T	G	1: 83,253,602 (GRCm39)	K1382N	probably benign	Het
Syde2	G	A	3: 145,704,241 (GRCm39)	G131S	possibly damaging	Het
Taok1	C	T	11: 77,462,472 (GRCm39)	V206I	probably benign	Het
Tas1r2	G	T	4: 139,382,666 (GRCm39)	M101I	probably benign	Het
Trpc6	C	T	9: 8,656,613 (GRCm39)	T680I	probably damaging	Het
Trub1	T	C	19: 57,473,646 (GRCm39)		probably null	Het
Tspan1	G	T	4: 116,020,885 (GRCm39)		probably null	Het
Ttc28	G	A	5: 111,424,139 (GRCm39)	E1438K	probably damaging	Het
Ubr3	A	G	2: 69,808,136 (GRCm39)	T1206A	possibly damaging	Het
Ulbp3	C	T	10: 3,076,459 (GRCm39)		noncoding transcript	Het
Usp40	A	G	1: 87,877,936 (GRCm39)	I1117T	probably benign	Het
Usp43	G	T	11: 67,812,536 (GRCm39)	N113K	probably damaging	Het
Vcan	T	A	13: 89,841,422 (GRCm39)	D414V	probably damaging	Het
Vmn1r202	T	A	13: 22,685,904 (GRCm39)	Y171F	possibly damaging	Het
Zfp142	A	G	1: 74,612,795 (GRCm39)	S451P	probably damaging	Het
Zfp516	A	G	18: 82,975,536 (GRCm39)	D578G	probably damaging	Het
Zfp90	G	A	8: 107,152,120 (GRCm39)	C611Y	probably damaging	Het
Zfp954	A	G	7: 7,118,609 (GRCm39)	C312R	probably damaging	Het
Zmym3	A	T	X: 100,450,993 (GRCm39)	V1208D	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
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
R9326:Sybu	UTSW	15	44,537,019 (GRCm39)	missense	probably damaging	1.00
Z1177:Sybu	UTSW	15	44,536,458 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGGAATGAACAAACTCCAGGCC -3'
(R):5'- GTTGGCACTCAAAGAAGCCAG -3'

Sequencing Primer
(F):5'- CAGGCCACTGGATTCTGTG -3'
(R):5'- GCTCAAACAGGTCATCGAGACTATG -3'

Posted On

2014-09-18