Mutagenetix > Incidental Mutations

Incidental Mutation 'R6988:Syde2'

543065

Institutional Source

Beutler Lab

Gene Symbol

Syde2

Ensembl Gene

ENSMUSG00000036863

Gene Name

synapse defective 1, Rho GTPase, homolog 2 (C. elegans)

Synonyms

C430017H16Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R6988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

145987870-146021720 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 146019809 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 885 (R885L)

Ref Sequence

ENSEMBL: ENSMUSP00000148542 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039517] [ENSMUST00000200546] [ENSMUST00000212479]

AlphaFold

E9PUP1

Predicted Effect

probably benign
Transcript: ENSMUST00000039517
AA Change: R1152L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863
AA Change: R1152L

Domain	Start	End	E-Value	Type
low complexity region	65	98	N/A	INTRINSIC
low complexity region	116	128	N/A	INTRINSIC
low complexity region	164	185	N/A	INTRINSIC
low complexity region	197	221	N/A	INTRINSIC
low complexity region	623	636	N/A	INTRINSIC
C2	802	902	1.1e0	SMART
RhoGAP	950	1149	1.23e-57	SMART
Blast:RhoGAP	1151	1299	2e-50	BLAST
low complexity region	1300	1311	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200546
AA Change: R884L

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142954
Gene: ENSMUSG00000036863
AA Change: R884L

Domain	Start	End	E-Value	Type
low complexity region	355	368	N/A	INTRINSIC
C2	534	634	7.2e-3	SMART
RhoGAP	682	881	7.3e-60	SMART
Blast:RhoGAP	883	1031	2e-50	BLAST
low complexity region	1032	1043	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000212479
AA Change: R885L

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	G	4: 137,454,579	L15W	probably damaging	Het
4930550C14Rik	G	A	9: 53,411,756	V31I	possibly damaging	Het
4932415D10Rik	T	C	10: 82,291,899	D1759G	possibly damaging	Het
Adgre1	C	T	17: 57,408,445	S255F	probably benign	Het
Aff4	T	G	11: 53,398,237	S404R	probably damaging	Het
Akr1c19	A	T	13: 4,233,758		probably benign	Het
Ankrd31	T	A	13: 96,878,249	I1342K	probably damaging	Het
Arhgap5	T	A	12: 52,518,125	D626E	possibly damaging	Het
Arhgef1	G	A	7: 24,916,923	V332I	probably benign	Het
AY358078	A	G	14: 51,826,187	E430G	probably damaging	Het
B4gat1	T	A	19: 5,040,434	I395N	probably benign	Het
Bub1b	T	A	2: 118,636,830	I878N	probably damaging	Het
Ccdc150	C	T	1: 54,355,709	Q745*	probably null	Het
Ccl19	A	T	4: 42,754,885	I87N	probably damaging	Het
Ces2g	G	C	8: 104,963,908	G107A	probably benign	Het
Chpt1	A	G	10: 88,488,406	V180A	probably damaging	Het
Col2a1	T	C	15: 98,004,454	T14A	unknown	Het
Dnah7a	T	C	1: 53,582,625	I1114V	possibly damaging	Het
Dnah7c	T	C	1: 46,666,213	I2462T	possibly damaging	Het
Dnah8	T	C	17: 30,643,275	F208S	probably damaging	Het
Dnhd1	A	G	7: 105,714,210	E3993G	probably damaging	Het
Erv3	C	T	2: 131,855,966	D158N	possibly damaging	Het
Exoc6	T	A	19: 37,609,091	F647I	probably damaging	Het
Fbrs	G	A	7: 127,479,508		probably benign	Het
Fgfr1op2	T	C	6: 146,589,965	F109L	probably damaging	Het
Fv1	T	C	4: 147,869,271	F98S	possibly damaging	Het
Gm436	A	G	4: 144,686,325	F15S	probably benign	Het
H2-M10.1	T	C	17: 36,325,592	K107E	probably benign	Het
Hspg2	A	T	4: 137,528,890	Q1436L	probably damaging	Het
Ighv1-74	T	C	12: 115,802,763	Y79C	probably damaging	Het
Kcnj1	G	A	9: 32,396,585	V102I	probably benign	Het
Mnt	C	A	11: 74,842,809		probably benign	Het
Mrpl15	T	C	1: 4,782,660	T112A	probably benign	Het
Ncdn	T	C	4: 126,747,189	D506G	probably benign	Het
Ogdh	C	T	11: 6,313,806	R81*	probably null	Het
Olfr791	T	A	10: 129,526,673	S149T	probably benign	Het
Olfr815	G	C	10: 129,902,409	F100L	probably damaging	Het
Pole	G	T	5: 110,329,583	V1863F	probably damaging	Het
Pramel5	T	C	4: 144,274,007		probably benign	Het
Rabep1	A	G	11: 70,934,537	K636E	probably damaging	Het
Rasgrf2	T	A	13: 91,885,635	Y1151F	probably benign	Het
Rrad	A	G	8: 104,630,636	V93A	probably damaging	Het
Sesn3	A	T	9: 14,310,257	R118*	probably null	Het
Slc27a3	T	C	3: 90,386,290	N596S	probably benign	Het
Snx19	C	A	9: 30,428,935	D456E	probably damaging	Het
Supt20	T	C	3: 54,698,597	S35P	probably damaging	Het
Synm	G	A	7: 67,733,658	L1419F	probably damaging	Het
Tcrg-V6	G	T	13: 19,190,644	G40W	possibly damaging	Het
Tekt2	A	G	4: 126,323,443	F221L	probably benign	Het
Ticam1	C	T	17: 56,269,900	E732K	probably benign	Het
Tmem39b	A	G	4: 129,693,148	I90T	possibly damaging	Het
Trib2	A	G	12: 15,815,338	S79P	probably damaging	Het
Usp32	T	C	11: 85,010,143	M1084V	probably benign	Het
Vmn1r181	T	C	7: 23,984,847	F246L	probably damaging	Het
Wnt16	A	G	6: 22,288,511	D2G	probably damaging	Het
Zfp462	A	G	4: 55,080,716	E1357G	probably benign	Het
Zhx3	A	G	2: 160,779,868	M793T	probably benign	Het

Other mutations in Syde2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Syde2	APN	3	146014341	missense	possibly damaging	0.76
IGL01624:Syde2	APN	3	146007035	missense	probably damaging	1.00
IGL02059:Syde2	APN	3	146002172	missense	possibly damaging	0.77
IGL02195:Syde2	APN	3	146002156	missense	probably damaging	1.00
IGL02498:Syde2	APN	3	145998689	missense	probably benign	0.08
IGL02609:Syde2	APN	3	145998520	missense	probably benign	0.00
IGL02721:Syde2	APN	3	146002004	missense	probably damaging	1.00
IGL02932:Syde2	APN	3	146001476	missense	possibly damaging	0.79
IGL02957:Syde2	APN	3	145989179	splice site	probably benign
R0062:Syde2	UTSW	3	145998753	missense	probably benign	0.00
R0062:Syde2	UTSW	3	145998753	missense	probably benign	0.00
R0413:Syde2	UTSW	3	146007132	missense	probably damaging	1.00
R0505:Syde2	UTSW	3	146014380	missense	possibly damaging	0.85
R0535:Syde2	UTSW	3	145989170	critical splice donor site	probably null
R0646:Syde2	UTSW	3	146014249	splice site	probably null
R1535:Syde2	UTSW	3	146002421	splice site	probably benign
R1914:Syde2	UTSW	3	146014316	nonsense	probably null
R1915:Syde2	UTSW	3	146014316	nonsense	probably null
R1997:Syde2	UTSW	3	145998991	missense	probably benign	0.08
R2012:Syde2	UTSW	3	145988408	missense	possibly damaging	0.88
R2112:Syde2	UTSW	3	145998486	missense	possibly damaging	0.52
R2220:Syde2	UTSW	3	146001958	missense	probably benign	0.07
R2990:Syde2	UTSW	3	146001497	missense	probably damaging	0.97
R4022:Syde2	UTSW	3	146015725	missense	probably benign	0.25
R5077:Syde2	UTSW	3	146002009	missense	probably damaging	1.00
R5084:Syde2	UTSW	3	146001409	frame shift	probably null
R5084:Syde2	UTSW	3	146001408	nonsense	probably null
R5086:Syde2	UTSW	3	146001408	nonsense	probably null
R5087:Syde2	UTSW	3	146001408	nonsense	probably null
R5087:Syde2	UTSW	3	146007126	missense	probably damaging	1.00
R5101:Syde2	UTSW	3	146015638	missense	probably damaging	1.00
R5211:Syde2	UTSW	3	146001338	missense	probably benign	0.01
R5842:Syde2	UTSW	3	145999020	missense	probably benign	0.00
R6025:Syde2	UTSW	3	146007141	splice site	probably null
R6352:Syde2	UTSW	3	145998474	nonsense	probably null
R6384:Syde2	UTSW	3	145998813	missense	probably damaging	1.00
R6769:Syde2	UTSW	3	145999048	missense	probably damaging	0.98
R6771:Syde2	UTSW	3	145999048	missense	probably damaging	0.98
R6970:Syde2	UTSW	3	145988626	missense	probably benign	0.15
R7067:Syde2	UTSW	3	145988264	missense	probably benign	0.00
R7146:Syde2	UTSW	3	146007115	nonsense	probably null
R7191:Syde2	UTSW	3	146002358	missense	probably benign	0.04
R7246:Syde2	UTSW	3	145988755	missense	probably benign	0.22
R7271:Syde2	UTSW	3	146020276	missense	possibly damaging	0.71
R7307:Syde2	UTSW	3	146015798	missense	probably damaging	1.00
R7875:Syde2	UTSW	3	146020265	missense	probably damaging	1.00
R7903:Syde2	UTSW	3	145998788	missense	probably damaging	1.00
R7918:Syde2	UTSW	3	146002415	critical splice donor site	probably null
R8016:Syde2	UTSW	3	146001972	missense	possibly damaging	0.82
R8185:Syde2	UTSW	3	145988912	missense	probably benign
R8328:Syde2	UTSW	3	146015741	missense	probably benign	0.31
R8913:Syde2	UTSW	3	146002393	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTAGCACCTCTGAGTGTTGTAC -3'
(R):5'- TGCTCCAGTCTCCTGCATAG -3'

Sequencing Primer
(F):5'- GTACGCCTAATCCTGATTATATGTGG -3'
(R):5'- CAGTCTCCTGCATAGCGGTTG -3'

Posted On

2018-11-28