Mutagenetix > Incidental Mutation

Incidental Mutation 'R7319:Sympk'

568056

Institutional Source

Beutler Lab

Gene Symbol

Sympk

Ensembl Gene

ENSMUSG00000023118

Gene Name

symplekin

Synonyms

1500016F02Rik, 4632415H16Rik

MMRRC Submission

045415-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R7319 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18758321-18788542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18769770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 149 (V149A)

Ref Sequence

ENSEMBL: ENSMUSP00000023882 (fasta)

Gene Model

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

AlphaFold

Q80X82

Predicted Effect

probably benign
Transcript: ENSMUST00000023882
AA Change: V149A

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

SMART Domains

Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
AA Change: V149A

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: ENSMUST00000146903
AA Change: V149A

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

SMART Domains

Protein: ENSMUSP00000138740
Gene: ENSMUSG00000023118
AA Change: V149A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153976
AA Change: V149A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000121540
Gene: ENSMUSG00000023118
AA Change: V149A

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (79/82)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	A	T	14: 70,393,635 (GRCm39)	I287N	probably benign	Het
Aco2	G	T	15: 81,787,820 (GRCm39)	E223D	probably damaging	Het
Acsf3	T	A	8: 123,539,770 (GRCm39)	I466N	probably damaging	Het
Albfm1	G	A	5: 90,719,625 (GRCm39)		probably null	Het
Aox3	T	A	1: 58,191,761 (GRCm39)	F438I	probably benign	Het
Arhgap33	T	C	7: 30,225,794 (GRCm39)	T591A	probably benign	Het
Ash1l	C	T	3: 88,888,694 (GRCm39)	A191V	probably benign	Het
Btg2	T	C	1: 134,006,779 (GRCm39)	K5E	probably benign	Het
C1galt1	T	A	6: 7,871,150 (GRCm39)	Y329N	probably damaging	Het
Cacna1h	A	G	17: 25,608,435 (GRCm39)	I824T	possibly damaging	Het
Carmil3	A	G	14: 55,731,817 (GRCm39)	I182V	probably benign	Het
Ccdc150	T	A	1: 54,302,496 (GRCm39)		probably null	Het
Chek1	T	A	9: 36,633,939 (GRCm39)	R129W	probably damaging	Het
Chrna6	A	G	8: 27,896,815 (GRCm39)	M354T	possibly damaging	Het
Cpq	A	G	15: 33,250,185 (GRCm39)	T181A	probably benign	Het
Csmd2	A	T	4: 128,287,472 (GRCm39)	Y1069F		Het
Defb28	T	A	2: 152,361,974 (GRCm39)	C45S	possibly damaging	Het
Dnah1	A	G	14: 31,018,551 (GRCm39)	Y1360H	probably benign	Het
Dnah7c	T	C	1: 46,823,608 (GRCm39)	V3749A	possibly damaging	Het
Dnah7c	T	A	1: 46,819,935 (GRCm39)	D3728E	probably benign	Het
Dym	G	A	18: 75,196,245 (GRCm39)		probably null	Het
Dync2i2	G	A	2: 29,928,341 (GRCm39)	P95L	probably benign	Het
Dzip3	A	G	16: 48,747,903 (GRCm39)		probably null	Het
Eef1akmt4	A	G	16: 20,436,666 (GRCm39)	K163E	probably benign	Het
Fbrs	A	G	7: 127,081,985 (GRCm39)	T242A	possibly damaging	Het
Fgfr3	G	A	5: 33,885,146 (GRCm39)	V87M	possibly damaging	Het
Fst	A	T	13: 114,595,068 (GRCm39)	C19S	probably benign	Het
Gm7276	G	A	18: 77,273,216 (GRCm39)	R173W	unknown	Het
Gm9195	G	A	14: 72,697,929 (GRCm39)	H1284Y	probably benign	Het
Herc6	C	A	6: 57,581,074 (GRCm39)	T258K	probably damaging	Het
Hip1r	A	G	5: 124,137,174 (GRCm39)	Y678C	probably damaging	Het
Ifne	A	T	4: 88,798,243 (GRCm39)	N58K	probably damaging	Het
Ighv1-26	A	T	12: 114,752,163 (GRCm39)	H60Q	possibly damaging	Het
Ints1	A	G	5: 139,746,520 (GRCm39)	F1276L	probably damaging	Het
Itprid2	A	T	2: 79,466,416 (GRCm39)	D82V	probably damaging	Het
Kcnc4	T	A	3: 107,366,100 (GRCm39)	E36V	probably benign	Het
Kcnq2	C	T	2: 180,750,895 (GRCm39)	G315S	probably damaging	Het
Kdm4c	G	A	4: 74,255,200 (GRCm39)	V585M	probably damaging	Het
Klhl26	C	T	8: 70,905,592 (GRCm39)	R106H	probably damaging	Het
Kmo	T	C	1: 175,481,221 (GRCm39)	F313S	probably damaging	Het
Lmtk3	T	A	7: 45,443,740 (GRCm39)	S808T	unknown	Het
Lrch3	A	G	16: 32,815,363 (GRCm39)	T585A	probably benign	Het
Lrch4	T	A	5: 137,637,977 (GRCm39)	H86Q		Het
Map3k20	A	G	2: 72,195,062 (GRCm39)	D113G	probably damaging	Het
Mbd3l1	T	C	9: 18,396,417 (GRCm39)	S181P	probably benign	Het
Mccc2	T	C	13: 100,104,241 (GRCm39)	T303A	probably benign	Het
Med27	A	G	2: 29,303,490 (GRCm39)	R147G	possibly damaging	Het
Mrps5	T	A	2: 127,437,762 (GRCm39)	S196R	possibly damaging	Het
Muc21	GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG	GGGGTGGG	17: 35,932,935 (GRCm39)		probably benign	Het
Myo16	A	T	8: 10,526,185 (GRCm39)		probably null	Het
Nudt2	A	T	4: 41,477,575 (GRCm39)	M19L	probably benign	Het
Pcdha11	C	T	18: 37,146,245 (GRCm39)	P779S	probably benign	Het
Phykpl	A	G	11: 51,489,530 (GRCm39)	T379A	probably benign	Het
Plekha8	A	C	6: 54,601,206 (GRCm39)	M270L	probably benign	Het
Plekhg5	A	G	4: 152,192,885 (GRCm39)	H593R	probably benign	Het
Polr2a	T	C	11: 69,637,196 (GRCm39)	N293S	possibly damaging	Het
Pramel32	G	A	4: 88,548,184 (GRCm39)	P74S	probably benign	Het
Prex2	T	A	1: 11,232,532 (GRCm39)	N866K	probably benign	Het
Psme4	A	T	11: 30,757,790 (GRCm39)	I308L	probably benign	Het
Ptprb	T	C	10: 116,177,309 (GRCm39)	V1003A	probably benign	Het
Rbbp8	T	A	18: 11,865,269 (GRCm39)	D719E	probably damaging	Het
Rnaset2b	A	T	17: 7,259,166 (GRCm39)	D144V	probably benign	Het
Senp6	T	G	9: 80,033,481 (GRCm39)	D662E	probably damaging	Het
Serpinb3c	T	C	1: 107,200,817 (GRCm39)	N200S	possibly damaging	Het
Serpinb9g	C	G	13: 33,672,543 (GRCm39)	Y113*	probably null	Het
Sgf29	T	C	7: 126,270,821 (GRCm39)	I134T	probably benign	Het
Sh3bp4	T	G	1: 89,080,824 (GRCm39)		probably null	Het
Stab1	G	A	14: 30,862,783 (GRCm39)	L2243F	probably damaging	Het
Syt3	C	T	7: 44,041,953 (GRCm39)	Q271*	probably null	Het
Tas2r109	A	G	6: 132,957,663 (GRCm39)	I89T	probably benign	Het
Tgif1	A	G	17: 71,151,847 (GRCm39)	S255P	probably damaging	Het
Tm9sf1	G	A	14: 55,875,432 (GRCm39)		probably benign	Het
Tnf	A	G	17: 35,419,347 (GRCm39)	F161S	possibly damaging	Het
Topaz1	T	A	9: 122,579,428 (GRCm39)	S779R	possibly damaging	Het
Topors	A	G	4: 40,260,540 (GRCm39)	S915P	unknown	Het
Tpm4	C	T	8: 72,900,321 (GRCm39)	L161F	probably damaging	Het
Trim38	C	T	13: 23,975,384 (GRCm39)	T441I	probably damaging	Het
Trpv1	A	G	11: 73,141,620 (GRCm39)	M548V	probably benign	Het
Vmn2r68	T	A	7: 84,883,042 (GRCm39)	T237S	probably benign	Het
Zc3hav1	A	G	6: 38,309,209 (GRCm39)	S538P	probably benign	Het
Zfp541	C	T	7: 15,813,294 (GRCm39)	T649I	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
R2103:Sympk	UTSW	7	18,788,041 (GRCm39)	missense	probably benign
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
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'- ACTACTCCAGCGTCTTAGGCAC -3'
(R):5'- TAGGGGTGATCTCGAGGAATGC -3'

Sequencing Primer
(F):5'- AGCGTCTTAGGCACCCTTG -3'
(R):5'- AATGCGGTCCAGACTGATGTC -3'

Posted On

2019-06-26