Mutagenetix > Incidental Mutation

Incidental Mutation 'R5287:Syde1'

424416

Institutional Source

Beutler Lab

Gene Symbol

Syde1

Ensembl Gene

ENSMUSG00000032714

Gene Name

synapse defective 1, Rho GTPase, homolog 1 (C. elegans)

Synonyms

1200008N06Rik, mSYD1A

MMRRC Submission

042871-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5287 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78420337-78427798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78425871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 99 (R99G)

Ref Sequence

ENSEMBL: ENSMUSP00000043085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040580]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040580
AA Change: R99G

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

SMART Domains

Protein: ENSMUSP00000043085
Gene: ENSMUSG00000032714
AA Change: R99G

Domain	Start	End	E-Value	Type
low complexity region	37	45	N/A	INTRINSIC
low complexity region	56	69	N/A	INTRINSIC
low complexity region	114	127	N/A	INTRINSIC
low complexity region	147	160	N/A	INTRINSIC
low complexity region	176	191	N/A	INTRINSIC
low complexity region	321	335	N/A	INTRINSIC
RhoGAP	411	601	1.49e-56	SMART
low complexity region	638	652	N/A	INTRINSIC
low complexity region	681	694	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218641

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a Rho GTPase-activating protein highly expressed in placenta. The encoded protein is involved in cytoskeletal remodeling and trophoblast cell migration. Decreased expression of this gene has been associated with intrauterine growth restriction (IUGR). [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced miniature excitatory postsynaptic current freuqency and docked vesciles in CA1 synpases. Mice homozygous for another allele exhibit reduced embryos and placental weight with abnormal placenta morphology and placental vasculature. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	C	2: 93,666,298 (GRCm39)	D463G	probably damaging	Het
Acsbg3	G	T	17: 57,183,221 (GRCm39)		probably benign	Het
Adcy8	C	T	15: 64,588,001 (GRCm39)	V929I	probably benign	Het
Anp32a	A	T	9: 62,249,275 (GRCm39)	I16F	possibly damaging	Het
Arpin	T	C	7: 79,577,997 (GRCm39)	E144G	probably damaging	Het
Asb18	T	C	1: 89,942,110 (GRCm39)	T64A	probably benign	Het
Asxl2	A	G	12: 3,546,893 (GRCm39)	N559S	probably benign	Het
Brd7	G	T	8: 89,084,169 (GRCm39)	Q148K	probably damaging	Het
Brinp1	A	G	4: 68,711,201 (GRCm39)	W336R	probably benign	Het
Btnl9	A	G	11: 49,060,434 (GRCm39)	V438A	probably benign	Het
Cat	T	C	2: 103,304,705 (GRCm39)	T107A	probably damaging	Het
Catsperg2	T	C	7: 29,397,263 (GRCm39)	Y1080C	possibly damaging	Het
Ccdc138	T	A	10: 58,411,527 (GRCm39)	F632I	possibly damaging	Het
Cd46	C	T	1: 194,744,719 (GRCm39)	V340I	possibly damaging	Het
Celf1	T	C	2: 90,839,552 (GRCm39)	S326P	possibly damaging	Het
Ces1e	T	G	8: 93,935,240 (GRCm39)	D404A	probably benign	Het
Chd3	A	T	11: 69,239,895 (GRCm39)		probably null	Het
Clhc1	A	G	11: 29,528,244 (GRCm39)		probably benign	Het
Cops8	C	T	1: 90,534,342 (GRCm39)		probably benign	Het
Cpox	G	A	16: 58,495,649 (GRCm39)	G322D	probably damaging	Het
Csmd2	C	T	4: 128,380,677 (GRCm39)	R2078C	probably benign	Het
Dnm1l	A	C	16: 16,151,732 (GRCm39)	V240G	probably damaging	Het
Fezf1	C	T	6: 23,248,010 (GRCm39)	V22M	probably benign	Het
Gm6818	T	G	7: 38,099,911 (GRCm39)		noncoding transcript	Het
Hand2	C	T	8: 57,775,080 (GRCm39)	L47F	probably damaging	Het
Insyn2b	A	T	11: 34,353,058 (GRCm39)	T367S	probably benign	Het
Itga7	C	A	10: 128,779,027 (GRCm39)	R351S	probably benign	Het
Mmp8	G	T	9: 7,567,507 (GRCm39)	A456S	probably benign	Het
Mroh5	TGGAG	TG	15: 73,654,923 (GRCm39)		probably benign	Het
Opn4	T	C	14: 34,314,894 (GRCm39)	T460A	probably benign	Het
Or6b2	A	T	1: 92,408,019 (GRCm39)	V108E	possibly damaging	Het
Otog	T	C	7: 45,918,753 (GRCm39)	F943S	probably damaging	Het
Pcnx1	A	T	12: 82,028,825 (GRCm39)	Y1668F	probably damaging	Het
Pheta1	A	G	5: 121,990,794 (GRCm39)	E52G	possibly damaging	Het
Phf24	A	T	4: 42,933,831 (GRCm39)		probably null	Het
Phkg2	GCTGCCGGACGAGTGGCCT	GCT	7: 127,181,929 (GRCm39)		probably null	Het
Ppargc1a	G	A	5: 51,620,167 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 75,872,405 (GRCm39)	R1355*	probably null	Het
Ptprn2	A	T	12: 117,175,482 (GRCm39)	M721L	probably damaging	Het
Sec23ip	A	G	7: 128,367,860 (GRCm39)	E624G	probably benign	Het
Sfmbt1	G	A	14: 30,538,777 (GRCm39)	V799M	probably damaging	Het
Snrnp200	T	C	2: 127,073,607 (GRCm39)	V1335A	probably benign	Het
Sp140	G	A	1: 85,538,545 (GRCm39)		probably null	Het
Spdye4c	T	C	2: 128,434,560 (GRCm39)	S46P	possibly damaging	Het
T2	A	T	17: 8,636,835 (GRCm39)	M57L	probably benign	Het
Tasor2	G	A	13: 3,625,744 (GRCm39)	S1402L	probably benign	Het
Tfap2e	T	C	4: 126,628,439 (GRCm39)	I172M	probably benign	Het
Tk1	A	T	11: 117,707,367 (GRCm39)	V140E	probably damaging	Het
Tln2	G	A	9: 67,149,641 (GRCm39)	T1192M	probably damaging	Het
Tmed8	C	A	12: 87,220,957 (GRCm39)	A210S	probably damaging	Het
Tnip2	A	G	5: 34,671,108 (GRCm39)	L45P	probably damaging	Het
Ttc3	T	C	16: 94,260,703 (GRCm39)	V1396A	probably benign	Het
Ttn	G	T	2: 76,562,436 (GRCm39)	S28803Y	probably damaging	Het
Wdr90	A	T	17: 26,080,441 (GRCm39)		probably benign	Het
Zfp7	G	A	15: 76,775,422 (GRCm39)	R488Q	probably damaging	Het

Other mutations in Syde1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Syde1	APN	10	78,421,643 (GRCm39)	missense	probably damaging	1.00
IGL01285:Syde1	APN	10	78,424,721 (GRCm39)	missense	probably damaging	1.00
IGL01529:Syde1	APN	10	78,426,015 (GRCm39)	missense	probably benign
IGL01869:Syde1	APN	10	78,424,753 (GRCm39)	missense	possibly damaging	0.93
IGL02098:Syde1	APN	10	78,425,205 (GRCm39)	missense	probably damaging	1.00
IGL03187:Syde1	APN	10	78,424,943 (GRCm39)	missense	possibly damaging	0.79
R0014:Syde1	UTSW	10	78,425,868 (GRCm39)	missense	probably benign
R0561:Syde1	UTSW	10	78,425,210 (GRCm39)	missense	probably damaging	1.00
R0605:Syde1	UTSW	10	78,424,929 (GRCm39)	unclassified	probably benign
R1713:Syde1	UTSW	10	78,421,530 (GRCm39)	missense	probably damaging	1.00
R1756:Syde1	UTSW	10	78,422,814 (GRCm39)	missense	probably benign
R4491:Syde1	UTSW	10	78,426,062 (GRCm39)	missense	probably benign	0.00
R4846:Syde1	UTSW	10	78,424,731 (GRCm39)	missense	probably damaging	0.99
R5092:Syde1	UTSW	10	78,425,252 (GRCm39)	missense	probably benign
R5611:Syde1	UTSW	10	78,421,725 (GRCm39)	missense	probably benign
R5951:Syde1	UTSW	10	78,425,150 (GRCm39)	missense	possibly damaging	0.87
R5957:Syde1	UTSW	10	78,425,951 (GRCm39)	missense	probably damaging	1.00
R6169:Syde1	UTSW	10	78,421,938 (GRCm39)	missense	probably damaging	1.00
R7083:Syde1	UTSW	10	78,422,903 (GRCm39)	missense	probably benign	0.44
R7150:Syde1	UTSW	10	78,422,032 (GRCm39)	nonsense	probably null
R7239:Syde1	UTSW	10	78,424,615 (GRCm39)	missense	probably damaging	1.00
R7799:Syde1	UTSW	10	78,425,741 (GRCm39)	missense	probably benign
R7947:Syde1	UTSW	10	78,425,916 (GRCm39)	missense	probably damaging	1.00
R8876:Syde1	UTSW	10	78,425,325 (GRCm39)	missense	probably damaging	1.00
R8946:Syde1	UTSW	10	78,424,683 (GRCm39)	missense	probably damaging	0.99
R9104:Syde1	UTSW	10	78,421,670 (GRCm39)	missense	probably benign	0.01
R9132:Syde1	UTSW	10	78,425,340 (GRCm39)	missense	probably benign
R9703:Syde1	UTSW	10	78,421,557 (GRCm39)	missense	probably damaging	1.00
R9728:Syde1	UTSW	10	78,424,638 (GRCm39)	frame shift	probably null
Z1176:Syde1	UTSW	10	78,421,965 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AATCTTATGGTCCTTGCGGG -3'
(R):5'- AGAACCTCGTGTCCTTGAAG -3'

Sequencing Primer
(F):5'- AACACCTGGAGTATAGGGTTTG -3'
(R):5'- TCCTTGAAGGGTCTCAGGC -3'

Posted On

2016-08-04