Mutagenetix > Incidental Mutation

Incidental Mutation 'R0391:Sympk'

31687

Institutional Source

Beutler Lab

Gene Symbol

Sympk

Ensembl Gene

ENSMUSG00000023118

Gene Name

symplekin

Synonyms

MMRRC Submission

038597-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.971) question?

Stock #

R0391 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19024377-19054618 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19046849 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 759 (L759H)

Ref Sequence

ENSEMBL: ENSMUSP00000023882 (fasta)

Gene Model

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

AlphaFold

Q80X82

Predicted Effect

probably benign
Transcript: ENSMUST00000023882
AA Change: L759H

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
AA Change: L759H

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: 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

Meta Mutation Damage Score

0.1162

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

97% (97/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,701,177		probably benign	Het
Abcc2	G	A	19: 43,821,605		probably benign	Het
Abcc8	C	G	7: 46,122,173	G838A	probably damaging	Het
Akr1c21	G	A	13: 4,581,200	A245T	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,277	E47G	probably damaging	Het
Apoa1	A	G	9: 46,229,842	T79A	probably benign	Het
Atp6v1b1	A	G	6: 83,756,921	H378R	possibly damaging	Het
C4b	A	G	17: 34,735,614		probably benign	Het
Catsperd	A	T	17: 56,662,821	E638D	probably benign	Het
Cckar	C	T	5: 53,706,253		probably null	Het
Cfap100	C	T	6: 90,405,339		probably benign	Het
Chd1	G	T	17: 15,749,894	G970C	probably damaging	Het
Col14a1	A	G	15: 55,446,259		probably benign	Het
Col17a1	C	T	19: 47,663,824	V698M	probably damaging	Het
Cpeb1	T	C	7: 81,361,725	D156G	possibly damaging	Het
Cryl1	A	G	14: 57,303,775	Y151H	possibly damaging	Het
Csmd3	C	A	15: 47,657,573	V1881L	probably damaging	Het
Ctnnal1	C	T	4: 56,847,921	A73T	probably damaging	Het
Cyp2c37	T	C	19: 39,994,506	S180P	probably damaging	Het
Cyp2c54	T	C	19: 40,072,169	T123A	possibly damaging	Het
Dennd6b	T	C	15: 89,187,214	D304G	probably damaging	Het
Dnmt3l	T	C	10: 78,051,916		probably benign	Het
Eci1	G	A	17: 24,433,260		probably null	Het
Efhc1	A	G	1: 20,960,188	Y115C	probably damaging	Het
Ern1	T	A	11: 106,407,178	K706*	probably null	Het
Fam129c	T	A	8: 71,602,499		probably benign	Het
Ghrl	T	C	6: 113,719,338	E31G	probably damaging	Het
Gpr108	A	C	17: 57,243,101	V179G	probably benign	Het
Henmt1	A	G	3: 108,958,535		probably benign	Het
Ift172	A	G	5: 31,286,667	V69A	probably damaging	Het
Il17ra	T	C	6: 120,476,979		probably benign	Het
Il17rb	G	T	14: 30,006,155		probably null	Het
Il17rb	T	C	14: 30,004,347	N95D	probably benign	Het
Iqub	G	A	6: 24,446,155	L757F	probably benign	Het
Itpr1	T	C	6: 108,378,167	V473A	probably benign	Het
Itpr2	T	G	6: 146,229,773	N1978H	probably damaging	Het
Klk1b26	T	A	7: 44,012,727	F3Y	probably damaging	Het
Lars	A	G	18: 42,251,363	V50A	probably benign	Het
Lax1	G	T	1: 133,680,066	H312Q	probably benign	Het
Lctl	T	C	9: 64,122,314		probably benign	Het
Lrp2	G	A	2: 69,460,337		probably benign	Het
Lrp2	T	A	2: 69,456,858	D3745V	probably damaging	Het
Lvrn	A	T	18: 46,850,466	H92L	probably benign	Het
March1	A	G	8: 66,418,973	T385A	probably damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Mbd5	T	C	2: 49,272,416	V970A	possibly damaging	Het
Mccc1	A	G	3: 35,963,570		probably benign	Het
Mpp4	A	T	1: 59,143,829		probably benign	Het
Mrnip	G	A	11: 50,199,920	A304T	probably damaging	Het
Muc5b	T	C	7: 141,865,082	S3922P	possibly damaging	Het
Myh3	T	A	11: 67,096,507		probably benign	Het
Nbea	A	T	3: 56,037,277	H555Q	probably damaging	Het
Nlrp9c	A	T	7: 26,371,476		probably benign	Het
Nmur1	A	T	1: 86,387,678	V178E	probably damaging	Het
Nod2	T	G	8: 88,663,778	S238A	probably benign	Het
Ogfod1	A	T	8: 94,063,023	T451S	probably damaging	Het
Olfr145	G	A	9: 37,897,842	G146D	probably benign	Het
Olfr23	T	C	11: 73,941,109	F288L	probably damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr716	T	A	7: 107,148,187	Y290*	probably null	Het
Pcdh20	T	C	14: 88,468,668	I399V	probably benign	Het
Pdlim1	G	T	19: 40,243,573	H120Q	probably damaging	Het
Plg	T	C	17: 12,419,081	V798A	probably damaging	Het
Polr2c	A	G	8: 94,857,775	I39V	possibly damaging	Het
Ppfia2	C	A	10: 106,830,714		probably benign	Het
Ppp1r3a	A	T	6: 14,719,697	I406N	probably benign	Het
Psg28	A	T	7: 18,426,173	M366K	probably benign	Het
Rad54b	T	C	4: 11,601,702	I419T	probably damaging	Het
Rnf43	A	G	11: 87,731,282	Q403R	possibly damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Slc28a3	A	G	13: 58,569,415		probably benign	Het
Smad2	A	T	18: 76,289,037		probably null	Het
Smad4	G	A	18: 73,658,649	P274S	probably benign	Het
Smchd1	A	T	17: 71,403,154	V906D	probably damaging	Het
Soat2	C	A	15: 102,158,753	R320S	possibly damaging	Het
Spata33	C	T	8: 123,221,887	A57V	probably damaging	Het
Stab1	A	G	14: 31,143,418	L1814P	probably benign	Het
Stab2	T	C	10: 86,947,144	K680R	probably benign	Het
Stil	A	G	4: 115,041,172		probably null	Het
Tet1	A	T	10: 62,814,546		probably null	Het
Tfpi2	A	T	6: 3,965,460	N117K	probably benign	Het
Tle3	A	G	9: 61,416,661	Y766C	probably damaging	Het
Trpt1	C	A	19: 6,997,930		probably null	Het
Tshz1	A	G	18: 84,016,049	F78S	possibly damaging	Het
Ttc1	T	C	11: 43,738,808	D177G	probably damaging	Het
Ttc13	T	A	8: 124,674,401	Y741F	probably damaging	Het
Ulk3	C	T	9: 57,594,832	S462L	probably benign	Het
Utrn	C	T	10: 12,525,333		probably benign	Het
V1rd19	A	C	7: 24,003,585	T159P	probably damaging	Het
Vars	T	C	17: 35,011,486	V515A	possibly damaging	Het
Vmn1r85	A	G	7: 13,084,588	Y210H	probably benign	Het
Vmn2r89	A	G	14: 51,455,978	T262A	probably damaging	Het
Vps53	G	A	11: 76,121,579	T209I	probably benign	Het
Wdfy2	T	C	14: 62,925,133	F95L	possibly damaging	Het
Wwp1	G	T	4: 19,627,911	S694Y	probably damaging	Het
Zbtb8b	T	A	4: 129,432,670	D201V	probably damaging	Het
Zmym5	A	C	14: 56,804,451	N123K	possibly damaging	Het

Other mutations in Sympk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Sympk	APN	7	19,047,573 (GRCm38)	missense	probably benign	0.14
IGL01834:Sympk	APN	7	19,043,435 (GRCm38)	missense	probably benign	0.02
IGL02588:Sympk	APN	7	19,042,625 (GRCm38)	missense	probably benign
IGL02601:Sympk	APN	7	19,048,869 (GRCm38)	missense	probably benign	0.31
IGL02645:Sympk	APN	7	19,052,424 (GRCm38)	missense	probably damaging	0.99
IGL02698:Sympk	APN	7	19,045,634 (GRCm38)	missense	probably benign	0.35
IGL02709:Sympk	APN	7	19,047,538 (GRCm38)	missense	probably benign	0.26
IGL02814:Sympk	APN	7	19,053,273 (GRCm38)	missense	probably damaging	1.00
IGL03198:Sympk	APN	7	19,044,996 (GRCm38)	missense	possibly damaging	0.92
butterfinger	UTSW	7	19,048,453 (GRCm38)	missense	probably damaging	0.98
fifth_avenue	UTSW	7	19,043,460 (GRCm38)	missense	possibly damaging	0.83
IGL02991:Sympk	UTSW	7	19,030,577 (GRCm38)	missense	probably damaging	1.00
R1036:Sympk	UTSW	7	19,048,453 (GRCm38)	missense	probably damaging	0.98
R1872:Sympk	UTSW	7	19,029,145 (GRCm38)	missense	probably benign
R2058:Sympk	UTSW	7	19,043,529 (GRCm38)	missense	probably damaging	1.00
R2103:Sympk	UTSW	7	19,054,116 (GRCm38)	missense	probably benign
R2966:Sympk	UTSW	7	19,030,544 (GRCm38)	missense	probably damaging	1.00
R3110:Sympk	UTSW	7	19,034,484 (GRCm38)	missense	possibly damaging	0.69
R3112:Sympk	UTSW	7	19,034,484 (GRCm38)	missense	possibly damaging	0.69
R3703:Sympk	UTSW	7	19,040,561 (GRCm38)	missense	probably damaging	0.99
R3775:Sympk	UTSW	7	19,035,955 (GRCm38)	missense	probably damaging	1.00
R3930:Sympk	UTSW	7	19,047,522 (GRCm38)	missense	possibly damaging	0.90
R4638:Sympk	UTSW	7	19,043,460 (GRCm38)	missense	possibly damaging	0.83
R4639:Sympk	UTSW	7	19,043,460 (GRCm38)	missense	possibly damaging	0.83
R4645:Sympk	UTSW	7	19,043,460 (GRCm38)	missense	possibly damaging	0.83
R4688:Sympk	UTSW	7	19,054,410 (GRCm38)	missense	probably benign
R5050:Sympk	UTSW	7	19,036,042 (GRCm38)	missense	probably benign	0.19
R5051:Sympk	UTSW	7	19,036,042 (GRCm38)	missense	probably benign	0.19
R5052:Sympk	UTSW	7	19,036,042 (GRCm38)	missense	probably benign	0.19
R5092:Sympk	UTSW	7	19,042,659 (GRCm38)	missense	probably benign	0.17
R5211:Sympk	UTSW	7	19,035,889 (GRCm38)	missense	probably benign	0.22
R5591:Sympk	UTSW	7	19,054,039 (GRCm38)	missense	probably damaging	1.00
R5678:Sympk	UTSW	7	19,049,472 (GRCm38)	critical splice donor site	probably null
R5972:Sympk	UTSW	7	19,046,824 (GRCm38)	missense	probably benign
R6387:Sympk	UTSW	7	19,052,498 (GRCm38)	missense	possibly damaging	0.94
R6543:Sympk	UTSW	7	19,036,830 (GRCm38)	missense	probably damaging	1.00
R6984:Sympk	UTSW	7	19,038,043 (GRCm38)	missense	probably benign	0.00
R7141:Sympk	UTSW	7	19,054,092 (GRCm38)	missense	probably benign
R7292:Sympk	UTSW	7	19,036,030 (GRCm38)	missense	probably benign	0.01
R7319:Sympk	UTSW	7	19,035,845 (GRCm38)	missense	probably benign
R7887:Sympk	UTSW	7	19,034,439 (GRCm38)	missense	possibly damaging	0.69
R8094:Sympk	UTSW	7	19,053,448 (GRCm38)	critical splice donor site	probably null
R8147:Sympk	UTSW	7	19,036,793 (GRCm38)	missense	probably damaging	0.98
R8409:Sympk	UTSW	7	19,052,438 (GRCm38)	missense	probably benign	0.11
R9075:Sympk	UTSW	7	19,042,638 (GRCm38)	missense	probably benign	0.00
R9126:Sympk	UTSW	7	19,044,948 (GRCm38)	missense	possibly damaging	0.83
R9482:Sympk	UTSW	7	19,038,061 (GRCm38)	missense	possibly damaging	0.50
RF064:Sympk	UTSW	7	19,034,395 (GRCm38)	frame shift	probably null
X0017:Sympk	UTSW	7	19,040,663 (GRCm38)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- AGTCATCGTACCATTAGCACAGCAC -3'
(R):5'- TGGCAGGATCTGGGACTATGCTAAG -3'

Sequencing Primer
(F):5'- GGTACAAACTCGTGTTTCAGACC -3'
(R):5'- ATCTGGGACTATGCTAAGTTTGCTC -3'

Posted On

2013-04-24