Mutagenetix > Incidental Mutation

Incidental Mutation 'R0413:Syde2'

36768

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

038615-MU

Accession Numbers

Essential gene?

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

Stock #

R0413 (G1)

Quality Score

172

Status

Validated

Chromosome

Chromosomal Location

145693625-145727475 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 145712887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1008 (N1008K)

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: N1008K

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

SMART Domains

Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863
AA Change: N1008K

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: N740K

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

SMART Domains

Protein: ENSMUSP00000142954
Gene: ENSMUSG00000036863
AA Change: N740K

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: N741K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Meta Mutation Damage Score

0.7787

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.9%

Validation Efficiency

99% (99/100)

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	G	2: 69,158,355 (GRCm39)		probably benign	Het
Adh1	C	T	3: 137,986,193 (GRCm39)	T60I	probably benign	Het
Agtpbp1	T	A	13: 59,661,966 (GRCm39)	I282F	probably damaging	Het
Arih2	G	T	9: 108,493,916 (GRCm39)	Q166K	probably damaging	Het
Cacna1s	A	G	1: 136,025,947 (GRCm39)	T1031A	probably benign	Het
Ccdc102a	C	A	8: 95,629,914 (GRCm39)	E542D	probably benign	Het
Cdk1	T	C	10: 69,180,929 (GRCm39)	I94V	probably benign	Het
Cep290	C	T	10: 100,359,176 (GRCm39)	Q969*	probably null	Het
Cilp2	A	G	8: 70,335,643 (GRCm39)	S452P	probably benign	Het
Col12a1	T	C	9: 79,606,642 (GRCm39)	T594A	probably damaging	Het
Cpox	A	G	16: 58,491,232 (GRCm39)	T148A	possibly damaging	Het
Csf3r	A	G	4: 125,933,460 (GRCm39)		probably benign	Het
Csmd1	A	T	8: 16,760,530 (GRCm39)	C202S	probably damaging	Het
Dlgap4	T	C	2: 156,604,746 (GRCm39)	S261P	probably damaging	Het
Dnah9	T	A	11: 65,998,961 (GRCm39)	Y1029F	probably damaging	Het
Dok5	T	C	2: 170,671,880 (GRCm39)		probably benign	Het
Dusp11	A	T	6: 85,929,352 (GRCm39)		probably benign	Het
Edar	T	C	10: 58,465,262 (GRCm39)	N34D	probably benign	Het
Efcab7	C	T	4: 99,766,943 (GRCm39)	T56I	probably damaging	Het
Entpd1	G	A	19: 40,699,729 (GRCm39)	V47I	probably benign	Het
Ephx4	A	G	5: 107,551,601 (GRCm39)	N62S	probably benign	Het
Etaa1	A	T	11: 17,896,350 (GRCm39)	L589*	probably null	Het
Fam135b	T	A	15: 71,335,670 (GRCm39)	N508I	probably benign	Het
Fam193a	T	C	5: 34,623,552 (GRCm39)	V27A	possibly damaging	Het
Fmnl1	A	G	11: 103,084,889 (GRCm39)		probably benign	Het
Fstl1	A	C	16: 37,641,516 (GRCm39)		probably null	Het
Gbp4	G	A	5: 105,268,972 (GRCm39)	R394C	possibly damaging	Het
Gemin4	T	C	11: 76,102,148 (GRCm39)	Y871C	probably benign	Het
Get1	T	G	16: 95,954,217 (GRCm39)	S105R	probably benign	Het
Gm7247	T	C	14: 51,760,929 (GRCm39)	V166A	probably benign	Het
Gpcpd1	A	T	2: 132,406,543 (GRCm39)		probably benign	Het
Gpnmb	A	G	6: 49,019,737 (GRCm39)	D36G	probably benign	Het
Ido2	C	T	8: 25,048,159 (GRCm39)		probably null	Het
Igfn1	G	A	1: 135,895,334 (GRCm39)	T1744I	probably benign	Het
Inf2	T	G	12: 112,568,110 (GRCm39)	F221V	probably damaging	Het
Itga10	T	A	3: 96,556,375 (GRCm39)	I170N	probably damaging	Het
Lrp6	A	T	6: 134,484,587 (GRCm39)	D345E	probably damaging	Het
Macf1	A	T	4: 123,366,062 (GRCm39)	S2900T	probably benign	Het
Med13	C	A	11: 86,190,033 (GRCm39)		probably benign	Het
Morc3	T	C	16: 93,667,362 (GRCm39)	V507A	probably damaging	Het
Myadm	AC	ACC	7: 3,345,276 (GRCm39)		probably null	Het
Myl6	C	T	10: 128,328,091 (GRCm39)		probably benign	Het
Mylk	T	C	16: 34,742,314 (GRCm39)	V942A	probably benign	Het
Myorg	G	T	4: 41,498,585 (GRCm39)	H348Q	probably benign	Het
Ncdn	G	T	4: 126,644,327 (GRCm39)	T165K	possibly damaging	Het
Ncf1	T	C	5: 134,251,656 (GRCm39)		probably benign	Het
Neb	T	C	2: 52,180,751 (GRCm39)		probably benign	Het
Nid1	T	A	13: 13,656,681 (GRCm39)	I604N	probably benign	Het
Nsrp1	T	C	11: 76,936,997 (GRCm39)	R400G	probably benign	Het
Nup43	T	G	10: 7,546,791 (GRCm39)	I137S	probably benign	Het
Nynrin	A	G	14: 56,109,648 (GRCm39)	N1585S	possibly damaging	Het
Obscn	T	A	11: 58,893,823 (GRCm39)	Y6748F	probably benign	Het
Omg	A	G	11: 79,393,661 (GRCm39)	S66P	possibly damaging	Het
Or13a27	A	T	7: 139,925,108 (GRCm39)	S265T	possibly damaging	Het
Or2y1d	T	C	11: 49,322,212 (GRCm39)	V303A	possibly damaging	Het
Or4c15	A	G	2: 88,759,906 (GRCm39)	V251A	probably benign	Het
Or51b6b	A	T	7: 103,309,957 (GRCm39)	F167I	possibly damaging	Het
Or52z1	A	G	7: 103,437,362 (GRCm39)	Y41H	probably damaging	Het
Or5ak22	T	C	2: 85,230,019 (GRCm39)	N286S	probably damaging	Het
Or8g27	A	G	9: 39,129,566 (GRCm39)	I304M	probably benign	Het
Or8k24	G	A	2: 86,216,058 (GRCm39)	R235C	probably benign	Het
Ormdl1	C	T	1: 53,347,978 (GRCm39)		probably benign	Het
Ovch2	T	A	7: 107,381,243 (GRCm39)	I552L	probably benign	Het
Pcare	T	G	17: 72,059,212 (GRCm39)	D155A	probably benign	Het
Pcsk9	G	T	4: 106,311,538 (GRCm39)	T231N	probably damaging	Het
Pgpep1	T	C	8: 71,110,100 (GRCm39)	N22S	probably damaging	Het
Plb1	T	C	5: 32,512,706 (GRCm39)	F1355L	probably damaging	Het
Plcg1	G	T	2: 160,603,349 (GRCm39)	L1173F	probably damaging	Het
Plch2	A	T	4: 155,091,373 (GRCm39)		probably null	Het
Ppp1r3g	T	A	13: 36,153,331 (GRCm39)	F250L	probably damaging	Het
Prkcg	A	G	7: 3,368,095 (GRCm39)	I381V	probably benign	Het
Pum2	C	T	12: 8,763,464 (GRCm39)	A207V	probably benign	Het
Rabac1	T	C	7: 24,669,607 (GRCm39)	E166G	probably damaging	Het
Rad21l	G	A	2: 151,493,851 (GRCm39)	S450L	probably benign	Het
Rangap1	ACACTCA	ACA	15: 81,600,876 (GRCm39)		probably null	Het
Reg3b	G	T	6: 78,348,824 (GRCm39)	C40F	probably damaging	Het
Rfx2	A	G	17: 57,091,418 (GRCm39)		probably benign	Het
Rrp15	G	A	1: 186,481,346 (GRCm39)		probably benign	Het
Schip1	G	T	3: 68,401,946 (GRCm39)	G36C	probably damaging	Het
Sec61a2	A	T	2: 5,881,165 (GRCm39)		probably benign	Het
Sema5a	A	G	15: 32,669,590 (GRCm39)	K705E	probably damaging	Het
Setx	A	G	2: 29,029,290 (GRCm39)	Y186C	probably damaging	Het
Slc22a23	T	C	13: 34,367,115 (GRCm39)	E631G	probably damaging	Het
Slc5a5	T	C	8: 71,344,319 (GRCm39)	T134A	possibly damaging	Het
Stx7	T	C	10: 24,057,492 (GRCm39)	S173P	probably damaging	Het
Sybu	T	C	15: 44,536,668 (GRCm39)	T353A	probably damaging	Het
Tiam1	T	C	16: 89,606,253 (GRCm39)		probably benign	Het
Timm10b	G	A	7: 105,327,537 (GRCm39)	E61K	probably benign	Het
Tm2d1	A	G	4: 98,253,810 (GRCm39)	I121T	probably damaging	Het
Trim75	T	C	8: 65,435,892 (GRCm39)	E186G	probably benign	Het
Tti1	T	C	2: 157,837,396 (GRCm39)	K895E	probably benign	Het
Vmn1r43	A	G	6: 89,846,830 (GRCm39)	S219P	probably damaging	Het
Vmn2r73	A	T	7: 85,521,087 (GRCm39)	S294T	possibly damaging	Het
Vmn2r94	A	T	17: 18,464,080 (GRCm39)	F737I	probably damaging	Het
Vsx2	A	T	12: 84,616,777 (GRCm39)	T21S	probably benign	Het
Zfp462	G	T	4: 55,010,534 (GRCm39)	R833S	probably damaging	Het
Zfpl1	G	A	19: 6,132,482 (GRCm39)	P143L	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
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	145,712,881 (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'- CGTCTCTGTAACGCGGCATTTTG -3'
(R):5'- AGTTCCCTTGGATGTGTGTACCCTC -3'

Sequencing Primer
(F):5'- GCATTTTGTTTCTAGGTTGTAGGC -3'
(R):5'- GATCCTCTGCCGAGTAAGTCTAAG -3'

Posted On

2013-05-09