Mutagenetix > Incidental Mutation

Incidental Mutation 'R7246:Syde2'

563527

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

045309-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R7246 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145693625-145727475 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 145694510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 253 (C253S)

Ref Sequence

ENSEMBL: ENSMUSP00000041897 (fasta)

Gene Model

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

AlphaFold

E9PUP1

Predicted Effect

probably benign
Transcript: ENSMUST00000039517
AA Change: C253S

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863
AA Change: C253S

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

SMART Domains

Protein: ENSMUSP00000142954
Gene: ENSMUSG00000036863

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,635,902 (GRCm39)	S318R	probably damaging	Het
Abce1	A	T	8: 80,429,698 (GRCm39)	N74K	probably damaging	Het
Akr1b7	T	A	6: 34,392,404 (GRCm39)	D72E	probably benign	Het
Amer3	T	A	1: 34,625,809 (GRCm39)	I16N	possibly damaging	Het
Atp6v0d1	T	C	8: 106,257,606 (GRCm39)	N108D	probably damaging	Het
Avpr1b	T	C	1: 131,528,008 (GRCm39)	V177A	probably damaging	Het
B020011L13Rik	A	T	1: 117,728,969 (GRCm39)	K159*	probably null	Het
Bpifb1	T	C	2: 154,049,012 (GRCm39)	L172P	probably damaging	Het
Brca1	G	A	11: 101,414,204 (GRCm39)	T1310I	probably benign	Het
C130074G19Rik	C	A	1: 184,615,166 (GRCm39)	R8L	probably damaging	Het
Ccdc178	T	C	18: 22,242,811 (GRCm39)	H268R	possibly damaging	Het
Cdc42ep5	A	G	7: 4,154,473 (GRCm39)	V105A	possibly damaging	Het
Cntn4	T	C	6: 106,483,180 (GRCm39)	L245P	probably damaging	Het
Crtac1	T	C	19: 42,276,365 (GRCm39)	E521G	probably benign	Het
Cts7	T	A	13: 61,503,394 (GRCm39)	N190I	probably damaging	Het
Cul7	A	G	17: 46,972,993 (GRCm39)	E1368G	probably benign	Het
Dhrs7l	A	T	12: 72,666,266 (GRCm39)	M89K	possibly damaging	Het
Dpp10	G	A	1: 123,262,106 (GRCm39)	P759S	probably damaging	Het
Etf1	A	G	18: 35,064,964 (GRCm39)	S11P	unknown	Het
Exd2	G	T	12: 80,527,309 (GRCm39)	L167F	probably damaging	Het
Exoc8	T	A	8: 125,623,156 (GRCm39)	R404*	probably null	Het
Fat2	T	C	11: 55,187,208 (GRCm39)	T1213A	probably benign	Het
Fgfr2	T	C	7: 129,844,136 (GRCm39)			Het
Gtf3c1	T	A	7: 125,268,266 (GRCm39)			Het
Id2	T	A	12: 25,145,820 (GRCm39)	I64F	probably damaging	Het
Idh3a	G	T	9: 54,499,756 (GRCm39)	A75S	probably damaging	Het
Ift70a2	A	G	2: 75,808,023 (GRCm39)	L163P	probably damaging	Het
Itgb8	C	G	12: 119,131,785 (GRCm39)	G620A	probably damaging	Het
Itih5	T	A	2: 10,191,873 (GRCm39)		probably null	Het
Lamtor5	A	T	3: 107,189,336 (GRCm39)	D124V	probably damaging	Het
Mast4	T	C	13: 102,930,511 (GRCm39)	E439G	probably damaging	Het
Meltf	T	G	16: 31,713,680 (GRCm39)	L641R	probably damaging	Het
Mesd	G	T	7: 83,541,420 (GRCm39)		probably benign	Het
Nfia	C	T	4: 97,953,579 (GRCm39)	P439L	probably damaging	Het
Nptx1	A	T	11: 119,435,416 (GRCm39)		probably null	Het
Or1o3	A	T	17: 37,573,905 (GRCm39)	C217S	probably benign	Het
Or2j6	T	A	7: 139,980,061 (GRCm39)	R299S	probably benign	Het
Or5t7	A	G	2: 86,507,633 (GRCm39)	F15L	probably benign	Het
Or7g29	G	A	9: 19,286,761 (GRCm39)	Q139*	probably null	Het
Pdss2	T	A	10: 43,248,172 (GRCm39)	H225Q	probably benign	Het
Pik3r5	C	A	11: 68,383,769 (GRCm39)	S529R	probably benign	Het
Plxna2	T	C	1: 194,326,590 (GRCm39)	S175P	possibly damaging	Het
Pom121l12	T	A	11: 14,549,551 (GRCm39)	W86R	probably benign	Het
Ppid	C	T	3: 79,498,740 (GRCm39)		probably benign	Het
Pramel7	T	A	2: 87,322,509 (GRCm39)	D85V	probably damaging	Het
Prune2	C	T	19: 17,098,732 (GRCm39)	T1412I	probably damaging	Het
Ptprd	T	C	4: 76,046,913 (GRCm39)	Y204C	probably damaging	Het
Rasgrp1	G	A	2: 117,168,835 (GRCm39)	R48*	probably null	Het
Rbks	A	G	5: 31,805,127 (GRCm39)	S246P	possibly damaging	Het
Rnf113a2	G	T	12: 84,464,451 (GRCm39)	M114I	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGCCGGCGGCG	7: 97,229,129 (GRCm39)		probably benign	Het
Scara3	A	G	14: 66,169,093 (GRCm39)	S175P	probably damaging	Het
Slc4a4	T	A	5: 89,270,262 (GRCm39)	L261Q	probably damaging	Het
Sparcl1	T	C	5: 104,233,023 (GRCm39)	I593V	probably benign	Het
Suclg1	C	T	6: 73,253,696 (GRCm39)	H115Y	unknown	Het
Tecrl	A	T	5: 83,427,182 (GRCm39)	I322N	probably damaging	Het
Tesmin	C	T	19: 3,456,965 (GRCm39)	A428V	probably damaging	Het
Thbd	T	A	2: 148,248,405 (GRCm39)	T488S	probably benign	Het
Tln2	A	T	9: 67,170,261 (GRCm39)	V876E	probably damaging	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Unc13b	T	A	4: 43,172,910 (GRCm39)	I1246K	unknown	Het
Usp47	T	A	7: 111,715,116 (GRCm39)			Het
Vmn1r192	C	T	13: 22,371,944 (GRCm39)	R92Q	probably damaging	Het
Vmn2r111	T	C	17: 22,767,695 (GRCm39)	T601A	probably damaging	Het
Vmn2r51	A	G	7: 9,836,428 (GRCm39)	F118L	probably benign	Het
Vmn2r74	T	A	7: 85,605,173 (GRCm39)	I492L	probably benign	Het
Vmn2r93	C	T	17: 18,546,012 (GRCm39)	T628I	possibly damaging	Het
Vps13d	C	T	4: 144,882,620 (GRCm39)	R991K		Het
Wdr5b	T	C	16: 35,862,306 (GRCm39)	S142P	probably damaging	Het
Zfp428	G	T	7: 24,215,069 (GRCm39)		probably null	Het

Other mutations in Syde2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Syde2	APN	3	145,720,096 (GRCm39)	missense	possibly damaging	0.76
IGL01624:Syde2	APN	3	145,712,790 (GRCm39)	missense	probably damaging	1.00
IGL02059:Syde2	APN	3	145,707,927 (GRCm39)	missense	possibly damaging	0.77
IGL02195:Syde2	APN	3	145,707,911 (GRCm39)	missense	probably damaging	1.00
IGL02498:Syde2	APN	3	145,704,444 (GRCm39)	missense	probably benign	0.08
IGL02609:Syde2	APN	3	145,704,275 (GRCm39)	missense	probably benign	0.00
IGL02721:Syde2	APN	3	145,707,759 (GRCm39)	missense	probably damaging	1.00
IGL02932:Syde2	APN	3	145,707,231 (GRCm39)	missense	possibly damaging	0.79
IGL02957:Syde2	APN	3	145,694,934 (GRCm39)	splice site	probably benign
R0062:Syde2	UTSW	3	145,704,508 (GRCm39)	missense	probably benign	0.00
R0062:Syde2	UTSW	3	145,704,508 (GRCm39)	missense	probably benign	0.00
R0413:Syde2	UTSW	3	145,712,887 (GRCm39)	missense	probably damaging	1.00
R0505:Syde2	UTSW	3	145,720,135 (GRCm39)	missense	possibly damaging	0.85
R0535:Syde2	UTSW	3	145,694,925 (GRCm39)	critical splice donor site	probably null
R0646:Syde2	UTSW	3	145,720,004 (GRCm39)	splice site	probably null
R1535:Syde2	UTSW	3	145,708,176 (GRCm39)	splice site	probably benign
R1914:Syde2	UTSW	3	145,720,071 (GRCm39)	nonsense	probably null
R1915:Syde2	UTSW	3	145,720,071 (GRCm39)	nonsense	probably null
R1997:Syde2	UTSW	3	145,704,746 (GRCm39)	missense	probably benign	0.08
R2012:Syde2	UTSW	3	145,694,163 (GRCm39)	missense	possibly damaging	0.88
R2112:Syde2	UTSW	3	145,704,241 (GRCm39)	missense	possibly damaging	0.52
R2220:Syde2	UTSW	3	145,707,713 (GRCm39)	missense	probably benign	0.07
R2990:Syde2	UTSW	3	145,707,252 (GRCm39)	missense	probably damaging	0.97
R4022:Syde2	UTSW	3	145,721,480 (GRCm39)	missense	probably benign	0.25
R5077:Syde2	UTSW	3	145,707,764 (GRCm39)	missense	probably damaging	1.00
R5084:Syde2	UTSW	3	145,707,163 (GRCm39)	nonsense	probably null
R5084:Syde2	UTSW	3	145,707,164 (GRCm39)	frame shift	probably null
R5086:Syde2	UTSW	3	145,707,163 (GRCm39)	nonsense	probably null
R5087:Syde2	UTSW	3	145,707,163 (GRCm39)	nonsense	probably null
R5087:Syde2	UTSW	3	145,712,881 (GRCm39)	missense	probably damaging	1.00
R5101:Syde2	UTSW	3	145,721,393 (GRCm39)	missense	probably damaging	1.00
R5211:Syde2	UTSW	3	145,707,093 (GRCm39)	missense	probably benign	0.01
R5842:Syde2	UTSW	3	145,704,775 (GRCm39)	missense	probably benign	0.00
R6025:Syde2	UTSW	3	145,712,896 (GRCm39)	splice site	probably null
R6352:Syde2	UTSW	3	145,704,229 (GRCm39)	nonsense	probably null
R6384:Syde2	UTSW	3	145,704,568 (GRCm39)	missense	probably damaging	1.00
R6769:Syde2	UTSW	3	145,704,803 (GRCm39)	missense	probably damaging	0.98
R6771:Syde2	UTSW	3	145,704,803 (GRCm39)	missense	probably damaging	0.98
R6970:Syde2	UTSW	3	145,694,381 (GRCm39)	missense	probably benign	0.15
R6988:Syde2	UTSW	3	145,725,564 (GRCm39)	missense	probably benign	0.31
R7067:Syde2	UTSW	3	145,694,019 (GRCm39)	missense	probably benign	0.00
R7146:Syde2	UTSW	3	145,712,870 (GRCm39)	nonsense	probably null
R7191:Syde2	UTSW	3	145,708,113 (GRCm39)	missense	probably benign	0.04
R7271:Syde2	UTSW	3	145,726,031 (GRCm39)	missense	possibly damaging	0.71
R7307:Syde2	UTSW	3	145,721,553 (GRCm39)	missense	probably damaging	1.00
R7875:Syde2	UTSW	3	145,726,020 (GRCm39)	missense	probably damaging	1.00
R7903:Syde2	UTSW	3	145,704,543 (GRCm39)	missense	probably damaging	1.00
R7918:Syde2	UTSW	3	145,708,170 (GRCm39)	critical splice donor site	probably null
R8016:Syde2	UTSW	3	145,707,727 (GRCm39)	missense	possibly damaging	0.82
R8185:Syde2	UTSW	3	145,694,667 (GRCm39)	missense	probably benign
R8328:Syde2	UTSW	3	145,721,496 (GRCm39)	missense	probably benign	0.31
R8913:Syde2	UTSW	3	145,708,148 (GRCm39)	missense	probably damaging	1.00
R9800:Syde2	UTSW	3	145,704,364 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATCTGCTGATCCAGGCCATG -3'
(R):5'- TATCACAGAGGTCCCCACAG -3'

Sequencing Primer
(F):5'- TGATCCAGGCCATGCACGAC -3'
(R):5'- TCCCCACAGGATCCTTAAAGGG -3'

Posted On

2019-06-26