Mutagenetix > Incidental Mutation

Incidental Mutation 'R9126:Sympk'

693245

Institutional Source

Beutler Lab

Gene Symbol

Sympk

Ensembl Gene

ENSMUSG00000023118

Gene Name

symplekin

Synonyms

1500016F02Rik, 4632415H16Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.970) question?

Stock #

R9126 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18758321-18788542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18778873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 588 (I588T)

Ref Sequence

ENSEMBL: ENSMUSP00000023882 (fasta)

Gene Model

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

AlphaFold

Q80X82

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023882
AA Change: I588T

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
AA Change: I588T

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

SMART Domains

Protein: ENSMUSP00000138740
Gene: ENSMUSG00000023118

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	G	T	3: 98,068,307 (GRCm39)	V47L	probably benign	Het
Atm	T	C	9: 53,370,134 (GRCm39)	K2323R	probably benign	Het
Bbx	A	G	16: 50,020,813 (GRCm39)	L865P	probably damaging	Het
C2cd3	T	A	7: 100,081,430 (GRCm39)	I1024N		Het
Cacna1e	A	T	1: 154,343,510 (GRCm39)	C1161S	probably benign	Het
Caskin2	A	T	11: 115,702,730 (GRCm39)	V26E	possibly damaging	Het
Ccnb3	T	G	X: 6,874,413 (GRCm39)	D722A	probably damaging	Het
Cep135	C	A	5: 76,781,550 (GRCm39)	Q846K	probably benign	Het
Cfap44	A	T	16: 44,295,619 (GRCm39)	D1639V	possibly damaging	Het
Cfh	G	T	1: 140,014,111 (GRCm39)	R1238S	probably damaging	Het
Dctn1	A	T	6: 83,169,835 (GRCm39)	D712V	probably damaging	Het
Ddx21	T	C	10: 62,424,479 (GRCm39)	D574G	probably damaging	Het
Dele1	A	G	18: 38,384,210 (GRCm39)	T35A	probably benign	Het
Dipk1b	A	G	2: 26,525,989 (GRCm39)	T308A	probably benign	Het
Dlgap5	A	G	14: 47,638,989 (GRCm39)	I443T	probably damaging	Het
Dusp7	G	A	9: 106,250,966 (GRCm39)	V364I		Het
Entpd1	G	T	19: 40,714,608 (GRCm39)	R268L	possibly damaging	Het
Fermt3	C	T	19: 6,979,745 (GRCm39)	A463T	probably benign	Het
Frat2	T	C	19: 41,836,106 (GRCm39)	D82G	probably damaging	Het
Git1	T	A	11: 77,390,380 (GRCm39)	I75N	probably damaging	Het
Gpr171	T	A	3: 59,005,488 (GRCm39)	I96F	probably damaging	Het
Gzmb	G	T	14: 56,497,845 (GRCm39)	R132S	probably benign	Het
Hecw1	C	T	13: 14,546,608 (GRCm39)	R132H	probably damaging	Het
Hey1	T	G	3: 8,729,651 (GRCm39)	S269R	probably benign	Het
Hgf	T	A	5: 16,765,979 (GRCm39)	N38K	possibly damaging	Het
Lag3	T	C	6: 124,881,809 (GRCm39)	R467G	probably damaging	Het
Lama3	A	T	18: 12,583,527 (GRCm39)	H705L	probably damaging	Het
Lce3f	T	G	3: 92,900,327 (GRCm39)	S49R	unknown	Het
Lrrc49	T	C	9: 60,578,594 (GRCm39)	D250G	probably damaging	Het
Lzts3	T	C	2: 130,477,248 (GRCm39)	K400R	possibly damaging	Het
Macc1	T	C	12: 119,409,711 (GRCm39)	S160P	probably benign	Het
Macf1	T	C	4: 123,276,193 (GRCm39)	T6155A	possibly damaging	Het
Mboat4	C	T	8: 34,582,348 (GRCm39)	T34I	probably benign	Het
Nav3	T	A	10: 109,541,524 (GRCm39)	Q1913L	probably benign	Het
Notch4	T	C	17: 34,800,080 (GRCm39)	S1014P	probably benign	Het
Or1o4	T	C	17: 37,590,745 (GRCm39)	T189A	probably benign	Het
Or2h1b	T	C	17: 37,462,123 (GRCm39)	T247A	possibly damaging	Het
Or52z1	T	G	7: 103,437,002 (GRCm39)	I161L	probably benign	Het
Orc2	A	C	1: 58,515,628 (GRCm39)	H293Q	probably benign	Het
Otoa	A	G	7: 120,693,845 (GRCm39)	Y75C	probably damaging	Het
Pate2	T	A	9: 35,581,908 (GRCm39)		probably null	Het
Phldb3	G	A	7: 24,326,726 (GRCm39)	V585I	probably damaging	Het
Plk3	ACACTCAC	ACAC	4: 116,989,090 (GRCm39)		probably benign	Het
Pou2f1	A	T	1: 165,722,603 (GRCm39)	N443K	unknown	Het
Prkci	T	A	3: 31,072,793 (GRCm39)	F66I	probably damaging	Het
Ptprz1	C	T	6: 23,002,334 (GRCm39)	Q1475*	probably null	Het
Qars1	C	T	9: 108,386,399 (GRCm39)	R143C	probably damaging	Het
Reln	T	C	5: 22,160,194 (GRCm39)	D2125G	probably damaging	Het
Rp1	A	T	1: 4,417,136 (GRCm39)	D1325E	probably damaging	Het
Rpl36a-ps1	A	T	14: 99,231,694 (GRCm39)	C15S	probably damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Scn9a	A	G	2: 66,314,744 (GRCm39)	I1658T	probably damaging	Het
Serinc1	C	T	10: 57,395,577 (GRCm39)	G370S	probably benign	Het
Spef1	G	T	2: 131,013,829 (GRCm39)	T197K	probably damaging	Het
Spmap2l	A	G	5: 77,164,453 (GRCm39)	Y152C	probably damaging	Het
Sptan1	G	A	2: 29,920,597 (GRCm39)	V2363I	probably damaging	Het
Ssh2	T	A	11: 77,346,102 (GRCm39)	C1362*	probably null	Het
Star	T	C	8: 26,302,832 (GRCm39)	V258A	probably benign	Het
Tas2r136	T	C	6: 132,754,584 (GRCm39)	N181S	probably damaging	Het
Tbc1d4	A	T	14: 101,724,952 (GRCm39)	V555E	probably benign	Het
Topaz1	G	A	9: 122,625,228 (GRCm39)	V1438I	probably benign	Het
Trmt112	T	A	19: 6,887,786 (GRCm39)	M45K		Het
Tshr	G	A	12: 91,503,992 (GRCm39)	R310H	probably damaging	Het
Ulk4	G	T	9: 121,090,988 (GRCm39)	P238Q	probably damaging	Het
Unc5a	T	C	13: 55,145,774 (GRCm39)	L312P	possibly damaging	Het
Urb1	T	C	16: 90,566,290 (GRCm39)	D1499G	possibly damaging	Het
Ushbp1	A	G	8: 71,843,653 (GRCm39)	S262P	probably damaging	Het
Vmn1r173	G	A	7: 23,402,008 (GRCm39)	R81K	probably benign	Het
Vmn2r5	G	A	3: 64,399,159 (GRCm39)	P607S	probably benign	Het
Vtn	G	T	11: 78,391,256 (GRCm39)	G223V	probably damaging	Het
Zfhx4	T	C	3: 5,394,589 (GRCm39)	V1061A	probably damaging	Het
Zfp169	T	C	13: 48,644,557 (GRCm39)	E190G	unknown	Het
Zfp616	T	A	11: 73,976,280 (GRCm39)	C850S	probably damaging	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
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
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'- AGAATGTCTCACCAGGCTGG -3'
(R):5'- TTTCTCTTGTAGTCCAGAGAGCAG -3'

Sequencing Primer
(F):5'- AGGCTGGCCTTCAACTTGAG -3'
(R):5'- CAGGCAGATGAGGCAATCC -3'

Posted On

2022-01-20