Mutagenetix > Incidental Mutation

Incidental Mutation 'R7141:Sympk'

553338

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 #

R7141 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19024377-19054618 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19054092 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1178 (I1178F)

Ref Sequence

ENSEMBL: ENSMUSP00000023882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023882] [ENSMUST00000035521] [ENSMUST00000076887] [ENSMUST00000146903]

AlphaFold

Q80X82

Predicted Effect

probably benign
Transcript: ENSMUST00000023882
AA Change: I1178F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
AA Change: I1178F

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: ENSMUST00000035521

SMART Domains

Protein: ENSMUSP00000046526
Gene: ENSMUSG00000040866

Domain	Start	End	E-Value	Type
low complexity region	42	56	N/A	INTRINSIC
Pfam:Radial_spoke	191	685	2.3e-200	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076887

SMART Domains

Protein: ENSMUSP00000076153
Gene: ENSMUSG00000040866

Domain	Start	End	E-Value	Type
low complexity region	42	56	N/A	INTRINSIC
Pfam:Radial_spoke	188	287	3e-18	PFAM
Pfam:Radial_spoke	285	433	4.6e-53	PFAM

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

probably benign
Transcript: ENSMUST00000146903

SMART Domains

Protein: ENSMUSP00000138740
Gene: ENSMUSG00000023118

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (56/56)

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
Aamp	A	C	1: 74,284,111		probably null	Het
Abhd10	C	T	16: 45,742,806	R29Q	probably benign	Het
Adgrv1	A	G	13: 81,492,501	Y3369H	probably benign	Het
Agl	A	G	3: 116,753,286	I1305T	probably benign	Het
Apba3	A	G	10: 81,273,055	I551V	probably damaging	Het
Appbp2	A	T	11: 85,191,751	Y551*	probably null	Het
Btbd17	T	C	11: 114,791,815	N357S	possibly damaging	Het
Casp2	T	C	6: 42,280,395	F426S	possibly damaging	Het
Cdh5	A	G	8: 104,113,001	N35D	probably benign	Het
Cep350	G	T	1: 155,914,748	Q1354K	probably damaging	Het
Cep44	A	G	8: 56,539,851	C243R	probably damaging	Het
Chst4	A	T	8: 110,030,839	S131T	probably damaging	Het
Cox15	T	C	19: 43,736,747	N406D	probably benign	Het
Cttnbp2	C	T	6: 18,380,468	R1467H	probably benign	Het
Dock8	A	G	19: 25,181,620	D1714G	probably null	Het
Erbb2	G	T	11: 98,427,309	R457L	probably damaging	Het
Esyt3	T	C	9: 99,321,440	N463S	probably benign	Het
Fam171a1	C	T	2: 3,225,152	Q441*	probably null	Het
Fam186b	T	A	15: 99,283,892	M142L	probably benign	Het
Git2	G	T	5: 114,769,698	C35*	probably null	Het
Gm21103	T	G	14: 6,301,807	Q202P	probably damaging	Het
Gm5622	G	T	14: 51,655,882	E89*	probably null	Het
Hmcn2	C	A	2: 31,360,896	T790K	probably benign	Het
Hspg2	T	A	4: 137,552,116	L3114H	probably damaging	Het
Igkv3-10	A	T	6: 70,572,981	Q37L	possibly damaging	Het
Kcp	G	T	6: 29,487,512	Y1106*	probably null	Het
Khsrp	T	C	17: 57,025,602	D226G	possibly damaging	Het
Klre1	T	A	6: 129,583,166	W134R	probably damaging	Het
Lrrc66	A	G	5: 73,629,977	I10T	probably benign	Het
Map4	T	C	9: 109,978,870	M1T	probably null	Het
Met	T	A	6: 17,527,155	I535K	probably benign	Het
Mrgprb1	A	G	7: 48,447,687	V159A	possibly damaging	Het
Mrpl41	A	G	2: 24,974,456	L68P	probably damaging	Het
Mtmr4	T	C	11: 87,600,613	W135R	probably damaging	Het
Mut	T	C	17: 40,952,839	V500A	possibly damaging	Het
Myh10	A	G	11: 68,802,139	D1420G	probably benign	Het
Naglu	A	C	11: 101,072,230	D229A	probably benign	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Ncln	G	T	10: 81,487,849	Y517*	probably null	Het
Nr1h4	G	A	10: 89,498,229	R100*	probably null	Het
Olfr173	G	A	16: 58,797,408	T146M	probably benign	Het
P2rx5	A	T	11: 73,160,648	T18S	probably damaging	Het
Pclo	T	C	5: 14,679,257	S2710P	unknown	Het
Pdhx	A	T	2: 103,073,314	F46I	probably benign	Het
Piezo2	A	T	18: 63,145,110	L241*	probably null	Het
Pitpnm1	G	A	19: 4,102,787	V65M	probably damaging	Het
Rgs3	A	G	4: 62,690,487	D330G	probably damaging	Het
Scaf8	T	C	17: 3,159,182	V60A	unknown	Het
Sema4c	A	G	1: 36,553,020	Y249H	probably damaging	Het
Spp2	T	C	1: 88,407,328	Y27H	probably damaging	Het
Sugct	T	A	13: 17,644,787	I158F	possibly damaging	Het
Tmppe	T	C	9: 114,404,968	Y112H	probably benign	Het
Trp53bp2	A	G	1: 182,448,508	T187A		Het
Tspoap1	A	G	11: 87,774,697	S754G	probably damaging	Het
Vmn1r214	C	T	13: 23,034,669	A111V	probably benign	Het
Vmn2r70	G	C	7: 85,558,836	S811C	probably benign	Het
Zfp638	T	C	6: 83,867,199	S15P	unknown	Het
Zfp763	A	G	17: 33,018,795	S459P	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
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
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
R9075:Sympk	UTSW	7	19042638	missense	probably benign	0.00
R9126:Sympk	UTSW	7	19044948	missense	possibly damaging	0.83
R9482:Sympk	UTSW	7	19038061	missense	possibly damaging	0.50
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'- TGTACCCTTCCTGAGCTGAG -3'
(R):5'- ACTAGAGTCCAGCAGTGTGG -3'

Sequencing Primer
(F):5'- TTCTCCCACCCCAGGATGAC -3'
(R):5'- CAGCAGTGTGGTTTCAGCCAG -3'

Posted On

2019-05-15