Mutagenetix > Incidental Mutation

Incidental Mutation 'R4491:Syde1'

330739

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

041747-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4491 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78420337-78427798 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78426062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 35 (R35H)

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: R35H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000043085
Gene: ENSMUSG00000032714
AA Change: R35H

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

0.0713

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	A	5: 64,055,812 (GRCm39)	P183T	probably damaging	Het
Bcan	G	A	3: 87,897,540 (GRCm39)	R682*	probably null	Het
Bzw1	T	A	1: 58,443,418 (GRCm39)	L410Q	probably damaging	Het
Cdh5	A	T	8: 104,839,672 (GRCm39)	I48F	probably damaging	Het
Cdhr5	T	C	7: 140,853,970 (GRCm39)	N173D	possibly damaging	Het
Cfap74	T	C	4: 155,513,628 (GRCm39)	M480T	probably benign	Het
Col6a5	C	T	9: 105,817,211 (GRCm39)	A367T	unknown	Het
Cpsf1	A	C	15: 76,481,922 (GRCm39)	Y1064D	possibly damaging	Het
Defb6	A	T	8: 19,278,090 (GRCm39)	H54L	probably benign	Het
Dmtf1	A	G	5: 9,190,379 (GRCm39)		probably benign	Het
Dnah12	T	C	14: 26,455,758 (GRCm39)	L827S	possibly damaging	Het
Dnai4	T	C	4: 102,923,596 (GRCm39)	E411G	probably benign	Het
Dsc3	T	C	18: 20,134,922 (GRCm39)	T21A	probably benign	Het
Epb41l1	G	T	2: 156,364,088 (GRCm39)	D866Y	probably benign	Het
Epha1	T	C	6: 42,337,600 (GRCm39)	M860V	probably damaging	Het
Far2	T	C	6: 148,074,907 (GRCm39)	L380P	possibly damaging	Het
Fgd5	A	G	6: 91,966,280 (GRCm39)	I680V	possibly damaging	Het
Fnbp4	T	C	2: 90,583,312 (GRCm39)		probably null	Het
Focad	G	A	4: 88,278,142 (GRCm39)		probably null	Het
Gm14180	T	A	11: 99,621,139 (GRCm39)		probably benign	Het
Hbb-bh2	T	C	7: 103,489,622 (GRCm39)	T5A	probably benign	Het
Ighv7-2	A	G	12: 113,876,100 (GRCm39)	F2L	probably benign	Het
Igsf5	A	G	16: 96,165,281 (GRCm39)	T19A	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Klb	A	G	5: 65,533,137 (GRCm39)	N482S	probably benign	Het
Lipo2	A	C	19: 33,699,100 (GRCm39)	L310R	probably damaging	Het
Mc3r	A	G	2: 172,091,123 (GRCm39)	H115R	possibly damaging	Het
Meioc	A	G	11: 102,565,746 (GRCm39)	D398G	possibly damaging	Het
Or10ag60	G	A	2: 87,437,736 (GRCm39)	M1I	probably null	Het
Or56a5	A	T	7: 104,792,983 (GRCm39)	C172*	probably null	Het
Or7a37	T	C	10: 78,806,151 (GRCm39)	S223P	probably damaging	Het
Pds5a	T	C	5: 65,792,780 (GRCm39)	T718A	probably benign	Het
Pdzd2	C	T	15: 12,385,723 (GRCm39)	D1016N	possibly damaging	Het
Pla2g2c	T	C	4: 138,461,719 (GRCm39)		probably null	Het
Plch1	T	C	3: 63,648,160 (GRCm39)	I404V	probably damaging	Het
Pou2af3	A	G	9: 51,181,955 (GRCm39)	F206L	probably benign	Het
Ppp2r5c	A	T	12: 110,546,956 (GRCm39)	D522V	possibly damaging	Het
Prex2	T	A	1: 11,232,487 (GRCm39)	S851R	probably benign	Het
Rapgef1	C	T	2: 29,609,668 (GRCm39)	P702S	possibly damaging	Het
Rasal3	T	A	17: 32,610,359 (GRCm39)	D976V	probably damaging	Het
Rasef	A	C	4: 73,652,740 (GRCm39)	L587R	probably damaging	Het
Rptn	A	T	3: 93,303,818 (GRCm39)	R384*	probably null	Het
Sema6a	G	A	18: 47,439,524 (GRCm39)		probably benign	Het
Sycp2	G	T	2: 178,016,778 (GRCm39)	T608K	probably damaging	Het
Taf1	G	T	X: 100,586,665 (GRCm39)	M313I	possibly damaging	Het
Taf15	A	T	11: 83,375,520 (GRCm39)	T31S	probably benign	Het
Tktl2	T	C	8: 66,964,664 (GRCm39)	V74A	probably damaging	Het
Tle4	A	G	19: 14,432,229 (GRCm39)	V489A	probably damaging	Het
Tmem30a	T	C	9: 79,684,567 (GRCm39)	H95R	probably damaging	Het
Trmt9b	G	A	8: 36,972,760 (GRCm39)	C70Y	probably damaging	Het
Vmn1r75	C	A	7: 11,614,909 (GRCm39)	Q214K	probably damaging	Het
Vps13c	C	T	9: 67,817,475 (GRCm39)	T1049M	probably benign	Het
Zfp37	T	C	4: 62,110,365 (GRCm39)	Q274R	probably benign	Het
Zfp648	T	G	1: 154,080,873 (GRCm39)	L344R	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
R4846:Syde1	UTSW	10	78,424,731 (GRCm39)	missense	probably damaging	0.99
R5092:Syde1	UTSW	10	78,425,252 (GRCm39)	missense	probably benign
R5287:Syde1	UTSW	10	78,425,871 (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'- GTTGTACCAAATCTCACCAGC -3'
(R):5'- TGGTTCCAAAGGAGGCAGTG -3'

Sequencing Primer
(F):5'- GTGTCCTAGGCCCCAAAGAGATC -3'
(R):5'- TGGCTCCAGGCTAGCAAAG -3'

Posted On

2015-07-21