Mutagenetix > Incidental Mutation

Incidental Mutation 'R9728:Syde1'

731174

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9728 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

78420337-78427798 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

AGCCCGAAAACACGGGGCTCTGC to AGC at 78424638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000043085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040580] [ENSMUST00000105384] [ENSMUST00000218215] [ENSMUST00000218875] [ENSMUST00000218885]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000040580

SMART Domains

Protein: ENSMUSP00000043085
Gene: ENSMUSG00000032714

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

probably benign
Transcript: ENSMUST00000105384

SMART Domains

Protein: ENSMUSP00000101023
Gene: ENSMUSG00000032763

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
Pfam:TPP_enzyme_N	52	220	1.4e-53	PFAM
Pfam:TPP_enzyme_M	273	405	2.1e-16	PFAM
Pfam:TPP_enzyme_C	467	618	3.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218215

Predicted Effect

probably benign
Transcript: ENSMUST00000218875

Predicted Effect

probably benign
Transcript: ENSMUST00000218885

Predicted Effect

probably benign
Transcript: ENSMUST00000219588

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atr	G	A	9: 95,797,050 (GRCm39)	A1698T	probably benign	Het
Caml	T	A	13: 55,779,670 (GRCm39)	S248T	possibly damaging	Het
Copg1	A	G	6: 87,879,225 (GRCm39)	I424V	probably damaging	Het
Cwh43	A	T	5: 73,565,629 (GRCm39)	N65Y	possibly damaging	Het
Defb1	A	G	8: 22,284,486 (GRCm39)	Y35C	probably damaging	Het
Disc1	A	T	8: 125,959,795 (GRCm39)	E769V	probably null	Het
Egln1	G	A	8: 125,675,093 (GRCm39)	T234I	possibly damaging	Het
Esco2	A	T	14: 66,069,069 (GRCm39)	F80L	probably benign	Het
Frem2	C	T	3: 53,564,052 (GRCm39)	A152T	probably benign	Het
Gcc1	T	C	6: 28,420,544 (GRCm39)	R258G	probably damaging	Het
Gm19410	A	G	8: 36,247,594 (GRCm39)	T469A	possibly damaging	Het
Gm4884	A	T	7: 40,692,689 (GRCm39)	Q219H	probably benign	Het
Gpr160	A	G	3: 30,950,144 (GRCm39)	N72S	probably damaging	Het
Hps3	C	A	3: 20,065,128 (GRCm39)	A771S	probably benign	Het
Igkv12-46	G	T	6: 69,741,967 (GRCm39)	P4T	possibly damaging	Het
Iqcf5	A	T	9: 106,393,168 (GRCm39)	I142L	probably damaging	Het
Kcna10	A	T	3: 107,101,513 (GRCm39)	N48I	possibly damaging	Het
Klhdc9	A	G	1: 171,187,357 (GRCm39)	S214P	probably damaging	Het
Knop1	C	T	7: 118,451,840 (GRCm39)	S293N		Het
Lgr6	A	G	1: 134,915,245 (GRCm39)	L778P	probably damaging	Het
Lrrk2	A	G	15: 91,618,228 (GRCm39)	N909S	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mei1	G	A	15: 81,966,098 (GRCm39)	G240D		Het
Miox	A	T	15: 89,218,703 (GRCm39)		probably benign	Het
Myo1e	A	G	9: 70,223,924 (GRCm39)	Y128C	probably damaging	Het
Nlrp9a	T	A	7: 26,256,915 (GRCm39)	Y178N	probably damaging	Het
Or14a259	A	G	7: 86,012,771 (GRCm39)	L258P	probably damaging	Het
Or5m13	A	G	2: 85,748,887 (GRCm39)	N206S	possibly damaging	Het
Or8u8	A	T	2: 86,011,636 (GRCm39)	M273K	possibly damaging	Het
Pde11a	C	A	2: 76,121,608 (GRCm39)	L324F	probably damaging	Het
Pprc1	T	C	19: 46,060,639 (GRCm39)	V1568A	probably damaging	Het
Ralgps1	C	T	2: 33,163,626 (GRCm39)	V144M	probably damaging	Het
Rgs22	A	T	15: 36,040,856 (GRCm39)	V1001E	probably benign	Het
Sapcd2	C	A	2: 25,262,669 (GRCm39)	A76D	probably damaging	Het
Sec24b	A	G	3: 129,790,422 (GRCm39)	I701T	probably damaging	Het
Sema4a	T	C	3: 88,348,187 (GRCm39)		probably null	Het
Setd5	G	T	6: 113,128,366 (GRCm39)	V1440L	probably benign	Het
Sik3	A	G	9: 46,106,142 (GRCm39)	K337E	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc23a2	G	T	2: 131,900,130 (GRCm39)	N568K	probably damaging	Het
Spag16	A	G	1: 69,962,842 (GRCm39)	R330G	probably benign	Het
Sspo	G	A	6: 48,432,707 (GRCm39)	G861D	probably damaging	Het
Sun5	T	A	2: 153,709,466 (GRCm39)	M75L	probably benign	Het
Synrg	A	G	11: 83,915,117 (GRCm39)	Y963C	probably damaging	Het
Tdpoz6	A	T	3: 93,599,807 (GRCm39)	C187*	probably null	Het
Trbv15	A	T	6: 41,118,550 (GRCm39)	E102V	possibly damaging	Het
Trim43b	G	T	9: 88,973,395 (GRCm39)	H113N	probably benign	Het
Trrap	G	T	5: 144,726,193 (GRCm39)	D381Y	probably benign	Het
Tubb6	A	G	18: 67,534,671 (GRCm39)	H190R	probably benign	Het
Unc45a	G	T	7: 79,978,448 (GRCm39)	L667I	probably benign	Het
Vav1	A	G	17: 57,612,459 (GRCm39)	D570G	probably benign	Het
Vmn1r214	T	C	13: 23,219,007 (GRCm39)	V167A	probably benign	Het
Vmn2r112	G	A	17: 22,824,108 (GRCm39)	M454I	probably damaging	Het
Vwf	C	A	6: 125,568,670 (GRCm39)	L398I	possibly damaging	Het
Zfp13	C	T	17: 23,799,788 (GRCm39)	R107K	possibly damaging	Het
Zfp318	G	A	17: 46,707,713 (GRCm39)	R257Q	probably benign	Het
Zfp9	G	T	6: 118,443,851 (GRCm39)	A58E	probably benign	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
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
Z1176:Syde1	UTSW	10	78,421,965 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TGAGCTCCATGAGGGCTAAG -3'
(R):5'- GAGTCAGGACACAGAAACTTTTAGG -3'

Sequencing Primer
(F):5'- ACAGATGATCCGTGGGTCCTG -3'
(R):5'- TAGGATAAAATTGCCTCAGTCCTCC -3'

Posted On

2022-10-06