Mutagenetix > Incidental Mutation

Incidental Mutation 'R2990:Syde2'

257880

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

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R2990 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

145693625-145727475 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 145707252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 664 (F664S)

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: F664S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863
AA Change: F664S

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

noncoding transcript
Transcript: ENSMUST00000195918

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200546
AA Change: F396S

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142954
Gene: ENSMUSG00000036863
AA Change: F396S

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

possibly damaging
Transcript: ENSMUST00000212479
AA Change: F397S

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cul7	C	G	17: 46,962,526 (GRCm39)	D52E	probably benign	Het
Eipr1	C	T	12: 28,909,267 (GRCm39)	T178I	probably benign	Het
Fzd1	A	G	5: 4,805,758 (GRCm39)	V608A	probably damaging	Het
Gimap3	G	T	6: 48,742,785 (GRCm39)	F48L	probably damaging	Het
Itfg1	T	C	8: 86,561,678 (GRCm39)	T152A	possibly damaging	Het
Katnbl1	G	T	2: 112,234,585 (GRCm39)	K22N	probably damaging	Het
Lipm	A	G	19: 34,093,886 (GRCm39)	I268V	probably benign	Het
Mapk8ip3	T	C	17: 25,124,266 (GRCm39)	I516V	probably benign	Het
Myo9a	T	C	9: 59,832,172 (GRCm39)	L2567P	possibly damaging	Het
Npy	A	G	6: 49,804,492 (GRCm39)	E71G	possibly damaging	Het
Parp2	A	G	14: 51,054,457 (GRCm39)	T203A	probably benign	Het
Rprd1a	A	C	18: 24,639,896 (GRCm39)	L262V	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Stat5b	T	C	11: 100,699,188 (GRCm39)		probably null	Het
Tenm4	G	T	7: 96,542,332 (GRCm39)		probably null	Het
Wapl	A	G	14: 34,458,665 (GRCm39)	N909S	probably damaging	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
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	145,712,881 (GRCm39)	missense	probably damaging	1.00
R5087:Syde2	UTSW	3	145,707,163 (GRCm39)	nonsense	probably null
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
R7246:Syde2	UTSW	3	145,694,510 (GRCm39)	missense	probably benign	0.22
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'- TTAAGGTCCCGGGATCATAGTC -3'
(R):5'- TGCAGGAATACTTCGAGCTCC -3'

Sequencing Primer
(F):5'- AAGGTCCCGGGATCATAGTCTCTAC -3'
(R):5'- GGAATACTTCGAGCTCCCAAGG -3'

Posted On

2015-01-11