Mutagenetix > Incidental Mutation

Incidental Mutation 'R2103:Sympk'

230683

Institutional Source

Beutler Lab

Gene Symbol

Sympk

Ensembl Gene

ENSMUSG00000023118

Gene Name

symplekin

Synonyms

1500016F02Rik, 4632415H16Rik

MMRRC Submission

040107-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R2103 (G1)

Quality Score

169

Status

Not validated

Chromosome

Chromosomal Location

18758321-18788542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18788041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1186 (S1186T)

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: S1186T

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

SMART Domains

Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
AA Change: S1186T

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

noncoding transcript
Transcript: ENSMUST00000131230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138440

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144991

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148861

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	A	3: 59,947,235 (GRCm39)	P311Q	probably damaging	Het
Acoxl	T	A	2: 127,814,526 (GRCm39)	M314K	probably damaging	Het
Agmat	A	T	4: 141,483,214 (GRCm39)	D216V	probably damaging	Het
Aida	A	T	1: 183,094,627 (GRCm39)	E107D	probably benign	Het
Ano5	A	G	7: 51,187,561 (GRCm39)	K50R	possibly damaging	Het
Anxa2	A	T	9: 69,391,098 (GRCm39)	D95V	probably damaging	Het
Aspm	G	A	1: 139,419,403 (GRCm39)	V3023M	probably damaging	Het
Atg16l2	A	G	7: 100,939,568 (GRCm39)		probably null	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
B3galt5	A	T	16: 96,117,225 (GRCm39)	K286M	probably damaging	Het
Best3	A	C	10: 116,838,499 (GRCm39)	I186L	probably benign	Het
Blm	G	T	7: 80,155,697 (GRCm39)		probably null	Het
Cat	A	T	2: 103,293,660 (GRCm39)	D389E	probably damaging	Het
Cert1	T	A	13: 96,771,394 (GRCm39)	N550K	probably damaging	Het
Cluh	C	A	11: 74,550,355 (GRCm39)	C222*	probably null	Het
Cntnap2	G	A	6: 47,275,522 (GRCm39)	E1325K	probably damaging	Het
Col14a1	A	T	15: 55,313,336 (GRCm39)	D1320V	unknown	Het
Cpne7	A	G	8: 123,854,176 (GRCm39)	K288E	possibly damaging	Het
Cyp26b1	A	G	6: 84,552,032 (GRCm39)	S369P	possibly damaging	Het
Cyp2j9	T	A	4: 96,460,201 (GRCm39)	K434M	probably damaging	Het
Dpyd	G	C	3: 118,858,601 (GRCm39)	S605T	probably benign	Het
Dst	A	G	1: 34,229,339 (GRCm39)	T1986A	probably benign	Het
Ebf2	T	A	14: 67,625,391 (GRCm39)	V233D	probably damaging	Het
Ecm2	A	G	13: 49,683,732 (GRCm39)	D570G	probably benign	Het
Efhc1	T	A	1: 21,059,784 (GRCm39)	C611*	probably null	Het
Epop	T	C	11: 97,519,480 (GRCm39)	T210A	probably benign	Het
Fdxacb1	A	T	9: 50,682,946 (GRCm39)	N101I	probably benign	Het
Fezf1	A	G	6: 23,247,331 (GRCm39)	F248S	possibly damaging	Het
Galnt16	A	G	12: 80,630,430 (GRCm39)	D262G	probably damaging	Het
Gm9507	T	A	10: 77,647,500 (GRCm39)		probably benign	Het
Grin2b	A	T	6: 135,757,138 (GRCm39)	I441N	probably benign	Het
H2-Eb2	A	G	17: 34,553,278 (GRCm39)	I155V	probably benign	Het
Hectd4	C	A	5: 121,493,692 (GRCm39)	D3811E	probably benign	Het
Herc4	T	C	10: 63,081,889 (GRCm39)	S71P	probably benign	Het
Hhipl1	A	G	12: 108,293,977 (GRCm39)	T628A	probably benign	Het
Hoga1	A	C	19: 42,048,459 (GRCm39)		probably null	Het
Igf2bp1	A	G	11: 95,866,122 (GRCm39)	V122A	probably damaging	Het
Il10ra	C	A	9: 45,167,109 (GRCm39)	A481S	probably benign	Het
Klk1b26	A	T	7: 43,666,324 (GRCm39)	T256S	probably damaging	Het
Kndc1	C	T	7: 139,501,150 (GRCm39)	T813I	probably benign	Het
Limch1	A	G	5: 67,156,072 (GRCm39)	K394R	probably benign	Het
Lrrc37a	T	C	11: 103,391,087 (GRCm39)	E1446G	probably benign	Het
Lrrc47	C	T	4: 154,100,350 (GRCm39)	R287W	probably damaging	Het
Mdn1	T	A	4: 32,738,712 (GRCm39)	L3555Q	possibly damaging	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Mei1	G	T	15: 81,991,237 (GRCm39)	V472F	probably damaging	Het
Mrps34	T	A	17: 25,114,464 (GRCm39)		probably null	Het
Myom3	A	G	4: 135,503,723 (GRCm39)	T391A	probably benign	Het
Nfib	G	A	4: 82,248,645 (GRCm39)	T314I	possibly damaging	Het
Or5b99	T	C	19: 12,976,866 (GRCm39)	V172A	possibly damaging	Het
Or5p73	A	G	7: 108,064,810 (GRCm39)	N93S	probably benign	Het
Or6c5	T	C	10: 129,074,368 (GRCm39)	S117P	probably damaging	Het
Or9a2	A	G	6: 41,748,939 (GRCm39)	I98T	probably benign	Het
Pdia3	G	C	2: 121,264,474 (GRCm39)	G346A	probably damaging	Het
Plce1	T	C	19: 38,766,368 (GRCm39)	F2117S	probably damaging	Het
Plec	A	G	15: 76,057,743 (GRCm39)	F4055L	probably damaging	Het
Ppip5k1	A	T	2: 121,152,134 (GRCm39)		probably null	Het
Psma6	T	C	12: 55,454,842 (GRCm39)	I57T	probably benign	Het
Psme2	A	T	14: 55,828,297 (GRCm39)		probably null	Het
Reln	A	T	5: 22,174,358 (GRCm39)	D1948E	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sbno1	G	T	5: 124,532,000 (GRCm39)	S727R	probably damaging	Het
Serpina3m	C	A	12: 104,355,958 (GRCm39)	Y208*	probably null	Het
Serpind1	T	C	16: 17,160,808 (GRCm39)	V446A	probably benign	Het
Shc3	T	A	13: 51,596,872 (GRCm39)	M384L	probably benign	Het
Slc38a11	A	G	2: 65,160,683 (GRCm39)	F304L	probably benign	Het
Slc4a5	A	C	6: 83,201,663 (GRCm39)	D4A	probably benign	Het
Slc4a5	G	A	6: 83,274,360 (GRCm39)	A1076T	probably benign	Het
Slpi	C	T	2: 164,197,463 (GRCm39)	C28Y	probably damaging	Het
Sptan1	T	C	2: 29,920,483 (GRCm39)	S2320P	probably damaging	Het
Stim2	A	G	5: 54,262,591 (GRCm39)	T278A	possibly damaging	Het
Tbrg1	T	C	9: 37,560,715 (GRCm39)	D387G	probably benign	Het
Tns2	A	T	15: 102,021,100 (GRCm39)		probably null	Het
Tnxb	A	G	17: 34,901,225 (GRCm39)	Y1013C	probably damaging	Het
Tpsg1	T	C	17: 25,592,267 (GRCm39)	S41P	possibly damaging	Het
Trim36	T	C	18: 46,329,149 (GRCm39)	N85S	probably benign	Het
Trpm6	A	T	19: 18,773,648 (GRCm39)	H380L	probably benign	Het
Tssk4	A	G	14: 55,888,997 (GRCm39)	I174M	probably damaging	Het
Ttn	C	T	2: 76,776,735 (GRCm39)		probably null	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r4	T	A	3: 64,322,704 (GRCm39)	N5I	possibly damaging	Het
Vps11	G	A	9: 44,270,524 (GRCm39)	H183Y	probably damaging	Het
Vsig10l	A	G	7: 43,116,892 (GRCm39)	T476A	possibly damaging	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Vwf	G	A	6: 125,623,293 (GRCm39)	V1797I	probably benign	Het
Wasl	A	T	6: 24,618,377 (GRCm39)	S447T	unknown	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Zfp874a	T	A	13: 67,590,623 (GRCm39)	I354F	probably benign	Het

Other mutations in Sympk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Sympk	APN	7	18,781,498 (GRCm39)	missense	probably benign	0.14
IGL01834:Sympk	APN	7	18,777,360 (GRCm39)	missense	probably benign	0.02
IGL02588:Sympk	APN	7	18,776,550 (GRCm39)	missense	probably benign
IGL02601:Sympk	APN	7	18,782,794 (GRCm39)	missense	probably benign	0.31
IGL02645:Sympk	APN	7	18,786,349 (GRCm39)	missense	probably damaging	0.99
IGL02698:Sympk	APN	7	18,779,559 (GRCm39)	missense	probably benign	0.35
IGL02709:Sympk	APN	7	18,781,463 (GRCm39)	missense	probably benign	0.26
IGL02814:Sympk	APN	7	18,787,198 (GRCm39)	missense	probably damaging	1.00
IGL03198:Sympk	APN	7	18,778,921 (GRCm39)	missense	possibly damaging	0.92
butterfinger	UTSW	7	18,782,378 (GRCm39)	missense	probably damaging	0.98
fifth_avenue	UTSW	7	18,777,385 (GRCm39)	missense	possibly damaging	0.83
IGL02991:Sympk	UTSW	7	18,764,502 (GRCm39)	missense	probably damaging	1.00
R0391:Sympk	UTSW	7	18,780,774 (GRCm39)	missense	probably benign	0.06
R1036:Sympk	UTSW	7	18,782,378 (GRCm39)	missense	probably damaging	0.98
R1872:Sympk	UTSW	7	18,763,070 (GRCm39)	missense	probably benign
R2058:Sympk	UTSW	7	18,777,454 (GRCm39)	missense	probably damaging	1.00
R2966:Sympk	UTSW	7	18,764,469 (GRCm39)	missense	probably damaging	1.00
R3110:Sympk	UTSW	7	18,768,409 (GRCm39)	missense	possibly damaging	0.69
R3112:Sympk	UTSW	7	18,768,409 (GRCm39)	missense	possibly damaging	0.69
R3703:Sympk	UTSW	7	18,774,486 (GRCm39)	missense	probably damaging	0.99
R3775:Sympk	UTSW	7	18,769,880 (GRCm39)	missense	probably damaging	1.00
R3930:Sympk	UTSW	7	18,781,447 (GRCm39)	missense	possibly damaging	0.90
R4638:Sympk	UTSW	7	18,777,385 (GRCm39)	missense	possibly damaging	0.83
R4639:Sympk	UTSW	7	18,777,385 (GRCm39)	missense	possibly damaging	0.83
R4645:Sympk	UTSW	7	18,777,385 (GRCm39)	missense	possibly damaging	0.83
R4688:Sympk	UTSW	7	18,788,335 (GRCm39)	missense	probably benign
R5050:Sympk	UTSW	7	18,769,967 (GRCm39)	missense	probably benign	0.19
R5051:Sympk	UTSW	7	18,769,967 (GRCm39)	missense	probably benign	0.19
R5052:Sympk	UTSW	7	18,769,967 (GRCm39)	missense	probably benign	0.19
R5092:Sympk	UTSW	7	18,776,584 (GRCm39)	missense	probably benign	0.17
R5211:Sympk	UTSW	7	18,769,814 (GRCm39)	missense	probably benign	0.22
R5591:Sympk	UTSW	7	18,787,964 (GRCm39)	missense	probably damaging	1.00
R5678:Sympk	UTSW	7	18,783,397 (GRCm39)	critical splice donor site	probably null
R5972:Sympk	UTSW	7	18,780,749 (GRCm39)	missense	probably benign
R6387:Sympk	UTSW	7	18,786,423 (GRCm39)	missense	possibly damaging	0.94
R6543:Sympk	UTSW	7	18,770,755 (GRCm39)	missense	probably damaging	1.00
R6984:Sympk	UTSW	7	18,771,968 (GRCm39)	missense	probably benign	0.00
R7141:Sympk	UTSW	7	18,788,017 (GRCm39)	missense	probably benign
R7292:Sympk	UTSW	7	18,769,955 (GRCm39)	missense	probably benign	0.01
R7319:Sympk	UTSW	7	18,769,770 (GRCm39)	missense	probably benign
R7887:Sympk	UTSW	7	18,768,364 (GRCm39)	missense	possibly damaging	0.69
R8094:Sympk	UTSW	7	18,787,373 (GRCm39)	critical splice donor site	probably null
R8147:Sympk	UTSW	7	18,770,718 (GRCm39)	missense	probably damaging	0.98
R8409:Sympk	UTSW	7	18,786,363 (GRCm39)	missense	probably benign	0.11
R9075:Sympk	UTSW	7	18,776,563 (GRCm39)	missense	probably benign	0.00
R9126:Sympk	UTSW	7	18,778,873 (GRCm39)	missense	possibly damaging	0.83
R9482:Sympk	UTSW	7	18,771,986 (GRCm39)	missense	possibly damaging	0.50
RF064:Sympk	UTSW	7	18,768,320 (GRCm39)	frame shift	probably null
X0017:Sympk	UTSW	7	18,774,588 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- TACCCTTCCTGAGCTGAGTG -3'
(R):5'- TCGAGACTAGAGTCCAGCAG -3'

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

Posted On

2014-09-18