Mutagenetix > Incidental Mutations

Incidental Mutation 'R5050:Sympk'

394593

Institutional Source

Beutler Lab

Gene Symbol

Sympk

Ensembl Gene

ENSMUSG00000023118

Gene Name

symplekin

Synonyms

MMRRC Submission

042640-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R5050 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19024377-19054618 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19036042 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 215 (R215C)

Ref Sequence

ENSEMBL: ENSMUSP00000023882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023882] [ENSMUST00000146903] [ENSMUST00000153976]

Predicted Effect

probably benign
Transcript: ENSMUST00000023882
AA Change: R215C

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
AA Change: R215C

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

noncoding transcript
Transcript: ENSMUST00000137287

Predicted Effect

probably benign
Transcript: ENSMUST00000146903
AA Change: R215C

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000138740
Gene: ENSMUSG00000023118
AA Change: R215C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153976

SMART Domains

Protein: ENSMUSP00000121540
Gene: ENSMUSG00000023118

Domain	Start	End	E-Value	Type
Pfam:Cohesin_HEAT	48	96	9e-7	PFAM
Pfam:DUF3453	117	198	2.2e-24	PFAM

Meta Mutation Damage Score

0.1910

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (69/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 9,012,458		probably benign	Het
Ap3m1	A	G	14: 21,044,775	I108T	probably benign	Het
Apobec1	T	C	6: 122,591,102	M1V	probably null	Het
Aqr	A	T	2: 114,112,609	L1161*	probably null	Het
Aqr	A	T	2: 114,170,025		probably null	Het
Arhgef37	A	G	18: 61,504,331	I420T	probably benign	Het
Cacna1g	C	T	11: 94,459,715	E435K	probably damaging	Het
Card6	G	T	15: 5,100,376	H513N	probably benign	Het
Ccdc158	A	C	5: 92,666,879	F29L	probably benign	Het
Ccr6	T	C	17: 8,256,104	L47S	probably damaging	Het
Cdc42bpa	T	A	1: 180,072,453	Y444*	probably null	Het
Cdh17	A	G	4: 11,784,654	Y270C	probably damaging	Het
Cdh9	T	C	15: 16,778,147	F16S	probably benign	Het
Cdkl1	T	C	12: 69,757,240	K141R	probably damaging	Het
Chd4	T	C	6: 125,107,480	Y692H	probably damaging	Het
Dhrs7	T	A	12: 72,657,410	D104V	probably damaging	Het
Dhtkd1	A	T	2: 5,917,689	L553Q	probably benign	Het
Dnah7a	T	G	1: 53,497,096	D2596A	probably benign	Het
Dync1li2	T	C	8: 104,437,441	K151E	probably damaging	Het
Eno4	C	T	19: 58,955,496	H297Y	probably benign	Het
Epg5	T	A	18: 77,975,941	D976E	possibly damaging	Het
Fam160b1	T	A	19: 57,383,170	F571L	probably damaging	Het
Gm1966	T	C	7: 106,596,972		noncoding transcript	Het
Gm4553	C	A	7: 142,165,036	K218N	unknown	Het
Gm4788	T	A	1: 139,736,840	I494F	probably damaging	Het
Gpld1	A	T	13: 24,962,756	T234S	probably benign	Het
Gtpbp6	A	T	5: 110,104,701		probably benign	Het
Gucy2g	T	C	19: 55,240,935	E101G	probably benign	Het
Hira	G	A	16: 18,925,859	R442K	possibly damaging	Het
Hrh3	A	G	2: 180,100,557	L394P	probably damaging	Het
Igkv1-110	T	A	6: 68,271,192	F95Y	probably damaging	Het
Iqgap3	T	G	3: 88,090,186	V223G	probably damaging	Het
Itpk1	T	C	12: 102,704,810	T3A	probably damaging	Het
Jag1	A	G	2: 137,085,154	V895A	possibly damaging	Het
Kazn	G	A	4: 142,118,203		probably benign	Het
Large2	A	T	2: 92,367,779	L282Q	probably benign	Het
Lgmn	A	G	12: 102,403,421		probably null	Het
Lrp4	A	T	2: 91,492,422	I1119F	probably benign	Het
Map3k19	T	C	1: 127,823,562	H684R	probably benign	Het
Mier3	C	T	13: 111,714,573	A367V	possibly damaging	Het
Mpdz	A	G	4: 81,295,448	V1579A	probably benign	Het
Mroh2b	A	T	15: 4,900,450	D6V	possibly damaging	Het
Myh7b	A	G	2: 155,631,750	I1568V	probably benign	Het
Olfr675	T	A	7: 105,024,387	I198F	probably damaging	Het
Plch2	C	T	4: 155,043,309		probably benign	Het
Plek	T	C	11: 16,995,216	D38G	probably damaging	Het
Polr2f	A	G	15: 79,144,662		probably benign	Het
Samsn1	A	G	16: 75,888,757	S38P	probably benign	Het
Sf1	C	T	19: 6,372,559	T248I	probably damaging	Het
Sgms2	C	T	3: 131,330,356	V232M	probably benign	Het
Sharpin	A	T	15: 76,348,330	L160H	probably damaging	Het
Syn3	T	C	10: 86,407,668	T136A	probably benign	Het
Tcam1	G	A	11: 106,285,452	V335M	possibly damaging	Het
Tedc1	G	T	12: 113,156,705	V56L	possibly damaging	Het
Tenm4	T	C	7: 96,895,788	L2337P	probably damaging	Het
Ttn	G	A	2: 76,884,811		probably benign	Het
Tysnd1	T	A	10: 61,696,271	I234N	probably damaging	Het
Vmn2r51	T	C	7: 10,100,422	K230E	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
IGL02601:Sympk	APN	7	19048869	missense	probably benign	0.31
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
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
R7887:Sympk	UTSW	7	19034439	missense	possibly damaging	0.69
R8094:Sympk	UTSW	7	19053448	critical splice donor site	probably null
R8147:Sympk	UTSW	7	19036793	missense	probably damaging	0.98
R8409:Sympk	UTSW	7	19052438	missense	probably benign	0.11
RF064:Sympk	UTSW	7	19034395	frame shift	probably null
X0017:Sympk	UTSW	7	19040663	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- ACATGGTGTCCTCTATGGCTG -3'
(R):5'- ACAGGCAACAGCATTGTGGG -3'

Sequencing Primer
(F):5'- CCTCTATGGCTGGGGAAATCATC -3'
(R):5'- TTTACGGCAGGCAAGCACTTTAC -3'

Posted On

2016-06-15