Mutagenetix > Incidental Mutations

Incidental Mutation 'R7887:Sympk'

609117

Institutional Source

Beutler Lab

Gene Symbol

Sympk

Ensembl Gene

ENSMUSG00000023118

Gene Name

symplekin

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R7887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19024377-19054618 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19034439 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 111 (I111T)

Ref Sequence

ENSEMBL: ENSMUSP00000023882 (fasta)

Gene Model

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

AlphaFold

Q80X82

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023882
AA Change: I111T

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
AA Change: I111T

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

possibly damaging
Transcript: ENSMUST00000146903
AA Change: I111T

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138740
Gene: ENSMUSG00000023118
AA Change: I111T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153976
AA Change: I111T

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121540
Gene: ENSMUSG00000023118
AA Change: I111T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (48/49)

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
Alkbh8	T	A	9: 3,385,343	I580N	probably damaging	Het
Ankrd35	C	T	3: 96,684,900	T834M	probably damaging	Het
Astn2	C	T	4: 65,644,866	V893I	possibly damaging	Het
B4galt1	A	G	4: 40,823,501	Y197H	probably benign	Het
Brdt	T	C	5: 107,359,933	S676P	possibly damaging	Het
Chrdl2	T	C	7: 100,029,250	V343A	possibly damaging	Het
Clcn3	A	T	8: 60,941,399	M59K	probably benign	Het
Cpne4	A	T	9: 105,032,791	N529I	probably damaging	Het
Crcp	G	T	5: 130,037,870	K32N	possibly damaging	Het
Ddx54	C	T	5: 120,627,203	R846C	probably damaging	Het
Dennd6a	T	C	14: 26,599,657	S118P	possibly damaging	Het
Egr3	A	G	14: 70,079,202	Y116C	probably damaging	Het
Fbxw25	A	G	9: 109,649,594		probably null	Het
Focad	T	G	4: 88,182,616	I313M	probably damaging	Het
Gm10272	C	T	10: 77,706,945	P107L	probably benign	Het
Gpr26	A	C	7: 131,966,973	I16L	probably benign	Het
Gpr39	C	A	1: 125,677,542	T69K	probably damaging	Het
Hacl1	C	T	14: 31,634,227	G97S	probably damaging	Het
Idh3b	A	C	2: 130,281,758	D136E	probably damaging	Het
Irf6	G	A	1: 193,167,732	V321M	probably damaging	Het
Klrg2	T	A	6: 38,636,571	T166S	probably damaging	Het
Lnx2	T	C	5: 147,019,043	I648V	probably damaging	Het
Mecr	A	G	4: 131,860,866		probably null	Het
Mnat1	T	A	12: 73,188,191	S205T	probably benign	Het
Mpnd	G	A	17: 56,011,097	G204D	probably benign	Het
Myh7	C	T	14: 54,983,662	E935K	possibly damaging	Het
Nid1	G	T	13: 13,499,733	R899L	possibly damaging	Het
Nisch	C	T	14: 31,176,695	W664*	probably null	Het
Nudt6	C	T	3: 37,412,380	V157I	possibly damaging	Het
Olfr1156	T	C	2: 87,949,880	M118V	probably damaging	Het
Olfr573-ps1	A	C	7: 102,942,151	L142R	possibly damaging	Het
Olfr949-ps1	A	T	9: 39,364,879	M107L	unknown	Het
Onecut2	T	A	18: 64,340,975	M180K	possibly damaging	Het
Parg	T	A	14: 32,217,662	D548E	possibly damaging	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,714,190		probably null	Het
Phf11d	A	G	14: 59,359,580	Y57H	probably damaging	Het
Prkaca	T	C	8: 83,986,895	V99A	probably benign	Het
Rnf144b	T	A	13: 47,239,811	C209S	probably damaging	Het
Scly	G	A	1: 91,300,641		probably null	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Sphkap	T	C	1: 83,277,412	Y872C	probably benign	Het
Ssh1	C	T	5: 113,961,349		probably null	Het
Strap	T	G	6: 137,739,809	L129V	possibly damaging	Het
Tprn	C	A	2: 25,264,012	A442E	probably damaging	Het
Tsen34	T	C	7: 3,694,708	L36P	probably damaging	Het
Ubr4	T	C	4: 139,407,810	F818L	probably damaging	Het
Uggt1	T	C	1: 36,208,034	Y294C	probably damaging	Het
Usp20	A	G	2: 31,020,894	K862E	probably benign	Het
Vmn1r201	A	T	13: 22,474,786	I57F	probably damaging	Het
Wdr64	C	T	1: 175,785,545	A662V	not run	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
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
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
R9075:Sympk	UTSW	7	19042638	missense	probably benign	0.00
R9126:Sympk	UTSW	7	19044948	missense	possibly damaging	0.83
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'- ATGTAGATGGTACCAGGGGC -3'
(R):5'- ATGCCCAGCCTTAACCTCAG -3'

Sequencing Primer
(F):5'- TCCACGATGTAGGGAGGCATC -3'
(R):5'- TTAACCTCAGCAGCCGGC -3'

Posted On

2019-12-20