Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02601:Sympk'

300061

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sympk

Ensembl Gene

ENSMUSG00000023118

Gene Name

symplekin

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.964) question?

Stock #

IGL02601

Quality Score

Status

Chromosome

Chromosomal Location

19024377-19054618 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19048869 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 877 (V877I)

Ref Sequence

ENSEMBL: ENSMUSP00000023882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023882] [ENSMUST00000146903]

Predicted Effect

probably benign
Transcript: ENSMUST00000023882
AA Change: V877I

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
AA Change: V877I

Domain	Start	End	E-Value	Type
low complexity region	106	118	N/A	INTRINSIC
Pfam:DUF3453	119	352	1.1e-63	PFAM
low complexity region	473	485	N/A	INTRINSIC
Pfam:Symplekin_C	887	1068	4.3e-78	PFAM
low complexity region	1123	1149	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130328

SMART Domains

Protein: ENSMUSP00000115900
Gene: ENSMUSG00000023118

Domain	Start	End	E-Value	Type
Pfam:Symplekin_C	1	92	3.9e-44	PFAM
low complexity region	125	143	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138440

Predicted Effect

probably benign
Transcript: ENSMUST00000146903

SMART Domains

Protein: ENSMUSP00000138740
Gene: ENSMUSG00000023118

Domain	Start	End	E-Value	Type
Pfam:DUF3453	117	230	1.1e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148861

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that functions in the regulation of polyadenylation and promotes gene expression. The protein forms a high-molecular weight complex with components of the polyadenylation machinery. It is thought to serve as a scaffold for recruiting regulatory factors to the polyadenylation complex. It also participates in 3'-end maturation of histone mRNAs, which do not undergo polyadenylation. The protein also localizes to the cytoplasmic plaques of tight junctions in some cell types. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous ofr a transgenic gene disruption exhibit anemia at E15 and hydrops fetalis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap1	C	T	5: 139,307,786	V57M	probably damaging	Het
Agap3	A	G	5: 24,483,371	K23E	possibly damaging	Het
Anln	A	T	9: 22,338,035	I132K	probably damaging	Het
Anxa4	T	C	6: 86,760,701	T13A	probably benign	Het
Bdp1	A	T	13: 100,098,514	Y191N	possibly damaging	Het
Carm1	G	A	9: 21,586,908	V403M	probably damaging	Het
Cbx7	A	G	15: 79,923,470		probably null	Het
Chd8	A	C	14: 52,214,300	N16K	possibly damaging	Het
Crtc3	A	T	7: 80,592,567	D499E	probably damaging	Het
Cul3	A	G	1: 80,271,715		probably benign	Het
D430041D05Rik	T	C	2: 104,230,286	D1421G	probably damaging	Het
Fgb	T	A	3: 83,045,060	E167D	probably benign	Het
Gimap6	T	A	6: 48,702,475	Q209L	probably damaging	Het
Gm3604	G	A	13: 62,370,176	H123Y	possibly damaging	Het
Gm5884	A	T	6: 128,645,786		noncoding transcript	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Obox3	T	C	7: 15,626,923	E97G	probably damaging	Het
Obsl1	T	C	1: 75,489,620	H1488R	probably benign	Het
Olfr1508	A	T	14: 52,463,345	Y221*	probably null	Het
Olfr790	A	G	10: 129,501,854	*323W	probably null	Het
Pak7	T	A	2: 136,116,935	K78*	probably null	Het
Paqr9	A	G	9: 95,560,824	N289S	probably damaging	Het
Pde3b	G	A	7: 114,523,342	R715H	probably damaging	Het
Pglyrp2	T	C	17: 32,415,861	H509R	probably benign	Het
Pik3ap1	A	C	19: 41,302,442	N550K	probably benign	Het
Pon3	A	G	6: 5,221,671	Y320H	probably damaging	Het
Ptprt	T	A	2: 161,766,307	T690S	probably benign	Het
Ptprz1	T	A	6: 23,000,687	D925E	probably benign	Het
Rag1	T	C	2: 101,642,673	D708G	probably damaging	Het
Rbm12	C	T	2: 156,095,560		probably benign	Het
Rbmy1b	A	G	Y: 3,774,885	I27M	probably benign	Het
Rfx2	G	A	17: 56,785,354	H315Y	possibly damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sis	T	C	3: 72,913,210	N1407S	probably benign	Het
Slco1c1	T	A	6: 141,544,829	L261Q	probably damaging	Het
Sox30	T	G	11: 45,984,762	L447R	possibly damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Ssu72	A	G	4: 155,705,425	N15S	possibly damaging	Het
Stat4	C	T	1: 52,098,415	S455F	probably damaging	Het
Stk4	T	A	2: 164,086,542	L97Q	probably damaging	Het
Sulf1	A	T	1: 12,786,645	N40I	probably damaging	Het
Taar7b	A	T	10: 24,000,306	H123L	probably damaging	Het
Teddm1b	A	G	1: 153,874,616	Y57C	probably damaging	Het
Tep1	A	T	14: 50,833,478	C2121*	probably null	Het
Tnfsf11	T	A	14: 78,299,945	R93*	probably null	Het
Tspan12	A	C	6: 21,835,379		probably benign	Het
Tyrp1	A	G	4: 80,840,775	E295G	probably null	Het
Vps4a	T	C	8: 107,043,061	I334T	probably damaging	Het
Zfhx3	T	C	8: 108,856,830	S1110P	probably damaging	Het
Zfp507	A	G	7: 35,791,711	S716P	probably damaging	Het

Other mutations in Sympk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Sympk	APN	7	19047573	missense	probably benign	0.14
IGL01834:Sympk	APN	7	19043435	missense	probably benign	0.02
IGL02588:Sympk	APN	7	19042625	missense	probably benign
IGL02645:Sympk	APN	7	19052424	missense	probably damaging	0.99
IGL02698:Sympk	APN	7	19045634	missense	probably benign	0.35
IGL02709:Sympk	APN	7	19047538	missense	probably benign	0.26
IGL02814:Sympk	APN	7	19053273	missense	probably damaging	1.00
IGL03198:Sympk	APN	7	19044996	missense	possibly damaging	0.92
butterfinger	UTSW	7	19048453	missense	probably damaging	0.98
fifth_avenue	UTSW	7	19043460	missense	possibly damaging	0.83
IGL02991:Sympk	UTSW	7	19030577	missense	probably damaging	1.00
R0391:Sympk	UTSW	7	19046849	missense	probably benign	0.06
R1036:Sympk	UTSW	7	19048453	missense	probably damaging	0.98
R1872:Sympk	UTSW	7	19029145	missense	probably benign
R2058:Sympk	UTSW	7	19043529	missense	probably damaging	1.00
R2103:Sympk	UTSW	7	19054116	missense	probably benign
R2966:Sympk	UTSW	7	19030544	missense	probably damaging	1.00
R3110:Sympk	UTSW	7	19034484	missense	possibly damaging	0.69
R3112:Sympk	UTSW	7	19034484	missense	possibly damaging	0.69
R3703:Sympk	UTSW	7	19040561	missense	probably damaging	0.99
R3775:Sympk	UTSW	7	19035955	missense	probably damaging	1.00
R3930:Sympk	UTSW	7	19047522	missense	possibly damaging	0.90
R4638:Sympk	UTSW	7	19043460	missense	possibly damaging	0.83
R4639:Sympk	UTSW	7	19043460	missense	possibly damaging	0.83
R4645:Sympk	UTSW	7	19043460	missense	possibly damaging	0.83
R4688:Sympk	UTSW	7	19054410	missense	probably benign
R5050:Sympk	UTSW	7	19036042	missense	probably benign	0.19
R5051:Sympk	UTSW	7	19036042	missense	probably benign	0.19
R5052:Sympk	UTSW	7	19036042	missense	probably benign	0.19
R5092:Sympk	UTSW	7	19042659	missense	probably benign	0.17
R5211:Sympk	UTSW	7	19035889	missense	probably benign	0.22
R5591:Sympk	UTSW	7	19054039	missense	probably damaging	1.00
R5678:Sympk	UTSW	7	19049472	critical splice donor site	probably null
R5972:Sympk	UTSW	7	19046824	missense	probably benign
R6387:Sympk	UTSW	7	19052498	missense	possibly damaging	0.94
R6543:Sympk	UTSW	7	19036830	missense	probably damaging	1.00
R6984:Sympk	UTSW	7	19038043	missense	probably benign	0.00
R7141:Sympk	UTSW	7	19054092	missense	probably benign
R7292:Sympk	UTSW	7	19036030	missense	probably benign	0.01
R7319:Sympk	UTSW	7	19035845	missense	probably benign
X0017:Sympk	UTSW	7	19040663	missense	probably benign	0.31

Posted On

2015-04-16