Mutagenetix > Incidental Mutation

Incidental Mutation 'R7307:Syde2'

567299

Institutional Source

Beutler Lab

Gene Symbol

Syde2

Ensembl Gene

ENSMUSG00000036863

Gene Name

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

Synonyms

C430017H16Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R7307 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145987870-146021720 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146015798 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1140 (V1140D)

Ref Sequence

ENSEMBL: ENSMUSP00000041897 (fasta)

Gene Model

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

AlphaFold

E9PUP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000039517
AA Change: V1140D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863
AA Change: V1140D

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 damaging
Transcript: ENSMUST00000200546
AA Change: V872D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142954
Gene: ENSMUSG00000036863
AA Change: V872D

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 damaging
Transcript: ENSMUST00000212479
AA Change: V873D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 17,118,395	P155L	probably benign	Het
Adamts12	G	T	15: 11,217,813	L285F	probably damaging	Het
Ankrd6	A	T	4: 32,816,949	Y393N	possibly damaging	Het
Arhgap45	A	G	10: 80,029,182	Q993R	probably benign	Het
Arhgef33	G	C	17: 80,347,120		probably null	Het
B4galnt3	T	C	6: 120,215,431	D448G	probably benign	Het
Capn1	C	G	19: 5,993,908	E564D	possibly damaging	Het
Ccdc85a	A	G	11: 28,399,384	S474P	probably benign	Het
Cdk12	T	A	11: 98,249,800	L1289*	probably null	Het
Cramp1l	A	T	17: 24,974,745	N920K	possibly damaging	Het
Cubn	C	T	2: 13,340,332	S2091N	probably damaging	Het
Ddx1	A	T	12: 13,223,959	I581N	probably damaging	Het
Dnm2	A	T	9: 21,485,687	N487Y	probably damaging	Het
Enc1	A	C	13: 97,245,093	N37T	probably damaging	Het
Ephb3	T	G	16: 21,222,226	I932S	probably benign	Het
Frk	T	A	10: 34,591,938	M316K	probably damaging	Het
Gdap2	C	T	3: 100,202,033	R25C	unknown	Het
Gm10436	A	C	12: 88,181,749	C32W	probably damaging	Het
Gpat2	T	A	2: 127,434,890	D671E	probably damaging	Het
Gpr179	C	T	11: 97,338,846	E828K	probably benign	Het
Greb1l	T	C	18: 10,538,142	Y1052H	probably damaging	Het
Gtf2f1	C	T	17: 57,007,833	S69N	probably damaging	Het
Hid1	A	C	11: 115,348,482	I785S	probably damaging	Het
Hmcn2	T	C	2: 31,343,081	I214T	probably damaging	Het
Hsd3b5	G	T	3: 98,619,769	F120L	probably damaging	Het
Kif16b	C	T	2: 142,712,931	R649Q	probably benign	Het
Kif17	A	T	4: 138,262,643	E47D	probably benign	Het
Kmt2b	T	C	7: 30,580,471	H1368R	probably damaging	Het
Kmt2d	A	T	15: 98,849,418	S3342T	unknown	Het
Krt82	A	G	15: 101,542,907	C356R	probably damaging	Het
Lrit2	A	G	14: 37,072,199	K407E	probably benign	Het
Malt1	T	A	18: 65,451,569	H325Q	possibly damaging	Het
Mccc2	T	G	13: 99,988,600	D187A	possibly damaging	Het
Mgll	T	A	6: 88,814,121		probably null	Het
Mindy2	T	G	9: 70,610,959	E449A	possibly damaging	Het
Muc5b	G	A	7: 141,842,294	V96M	unknown	Het
Nlrp4e	A	G	7: 23,321,528	E480G	probably benign	Het
Nup98	A	G	7: 102,134,795	I1093T	probably benign	Het
Olfr1288	A	T	2: 111,478,760		probably benign	Het
Olfr243	G	T	7: 103,716,966	R124L	probably damaging	Het
Olfr350	G	A	2: 36,850,125	M26I	probably benign	Het
Olfr541	G	A	7: 140,705,147	V299I	probably benign	Het
Pcdhb6	A	T	18: 37,335,478	H484L	probably benign	Het
Phldb1	T	C	9: 44,694,047	T604A	possibly damaging	Het
Pitpnm3	G	T	11: 72,070,964	A275D	probably damaging	Het
Polr2a	A	T	11: 69,747,292		probably null	Het
Polr3a	A	G	14: 24,459,987	C960R	probably benign	Het
Pou6f2	G	A	13: 18,239,713	A159V		Het
Pramef6	A	C	4: 143,896,775	Y276*	probably null	Het
Psmc4	A	G	7: 28,042,660	V303A	probably benign	Het
Ptdss2	A	G	7: 141,151,732	N151S	possibly damaging	Het
Ptprk	T	A	10: 28,589,008	Y1295*	probably null	Het
Rbm19	A	G	5: 120,186,218	K881E	possibly damaging	Het
Rcan2	T	A	17: 44,021,102	Y183*	probably null	Het
Rnd1	T	C	15: 98,670,799	E166G	probably damaging	Het
Rnf113a2	T	A	12: 84,418,179	C282S	probably damaging	Het
S100b	G	A	10: 76,257,092	G20R	probably benign	Het
Sae1	G	T	7: 16,368,544	Y168*	probably null	Het
Samd9l	C	A	6: 3,372,600	G1554*	probably null	Het
Samhd1	T	C	2: 157,135,020	S55G	probably benign	Het
Sgsm1	T	C	5: 113,273,646	D525G	probably benign	Het
Slc28a3	A	T	13: 58,563,172	M512K	probably damaging	Het
Slc9b2	T	A	3: 135,318,390	N67K	probably benign	Het
Smarca4	T	A	9: 21,638,800	I402N	probably damaging	Het
St7l	T	C	3: 104,889,353	F261L	probably benign	Het
Syt6	T	A	3: 103,587,472	I251N	probably damaging	Het
Taok2	T	C	7: 126,866,818	E916G	probably damaging	Het
Tecta	A	G	9: 42,377,992	S426P	probably damaging	Het
Thra	T	C	11: 98,764,308	I338T	probably damaging	Het
Trub1	A	T	19: 57,472,703	Y137F	probably damaging	Het
Vps13b	T	C	15: 35,841,545	F2574L	probably benign	Het
Ythdf3	T	C	3: 16,183,500	S2P	possibly damaging	Het
Zc3h13	T	A	14: 75,330,541	D1091E	probably damaging	Het
Zdhhc6	A	G	19: 55,313,250	Y100H	probably damaging	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
R6988:Syde2	UTSW	3	146019809	missense	probably benign	0.31
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
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
R9800:Syde2	UTSW	3	145998609	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATCTGAAACTGGTGGCCTCC -3'
(R):5'- CGATGGCTCAAATGTCTACAATG -3'

Sequencing Primer
(F):5'- TGGCCTCCTACCACGAAG -3'
(R):5'- TCCAGACATCCCATTGCT -3'

Posted On

2019-06-26