Incidental Mutation 'R9075:Sympk'
ID 689731
Institutional Source Beutler Lab
Gene Symbol Sympk
Ensembl Gene ENSMUSG00000023118
Gene Name symplekin
Synonyms 1500016F02Rik, 4632415H16Rik
MMRRC Submission 068896-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R9075 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 18758321-18788542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18776563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 485 (E485G)
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: E485G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
AA Change: E485G

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:DUF3453 117 230 1.1e-35 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (50/50)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik T G 1: 120,097,014 (GRCm39) S137A Het
Actl6a G T 3: 32,769,641 (GRCm39) C152F possibly damaging Het
Adam26b A T 8: 43,973,405 (GRCm39) D532E probably benign Het
Adamts6 A G 13: 104,598,793 (GRCm39) N878S probably benign Het
Ap1b1 T C 11: 4,975,597 (GRCm39) S387P possibly damaging Het
Cdh23 A G 10: 60,153,541 (GRCm39) S2350P probably damaging Het
Cdh4 A G 2: 179,501,940 (GRCm39) D300G probably damaging Het
Cngb1 T C 8: 95,979,993 (GRCm39) Y969C probably damaging Het
Cog8 C T 8: 107,779,208 (GRCm39) M356I probably damaging Het
Fam168a T A 7: 100,484,582 (GRCm39) V224D probably damaging Het
Fam210a C T 18: 68,405,693 (GRCm39) V177M probably damaging Het
Flnc A T 6: 29,447,646 (GRCm39) I1150F probably damaging Het
Frmd4a G T 2: 4,608,765 (GRCm39) G878W probably damaging Het
Gm11555 C T 11: 99,540,694 (GRCm39) C95Y Het
Gns A G 10: 121,226,542 (GRCm39) N397S probably benign Het
Grin2b CA C 6: 135,709,509 (GRCm39) probably null Het
Ifi204 T A 1: 173,589,282 (GRCm39) N50Y possibly damaging Het
Iqub T A 6: 24,446,124 (GRCm39) I767F probably damaging Het
Lama2 A T 10: 26,857,588 (GRCm39) L3087Q probably damaging Het
Mars2 A G 1: 55,278,154 (GRCm39) T586A probably damaging Het
Mrps28 G T 3: 8,867,312 (GRCm39) S185R probably benign Het
Nphp4 T C 4: 152,591,905 (GRCm39) Y363H probably damaging Het
Nploc4 T C 11: 120,304,526 (GRCm39) T232A possibly damaging Het
Pate3 A G 9: 35,557,893 (GRCm39) probably null Het
Pcdh18 G A 3: 49,699,339 (GRCm39) A1041V probably benign Het
Plpp5 T A 8: 26,210,379 (GRCm39) Y50N probably benign Het
Ppp4r4 G T 12: 103,570,290 (GRCm39) G755* probably null Het
Psmd14 T A 2: 61,607,021 (GRCm39) V156D probably damaging Het
Ptch1 G A 13: 63,681,335 (GRCm39) R651C possibly damaging Het
Rai14 T C 15: 10,589,403 (GRCm39) E265G probably damaging Het
Rbmx G A X: 56,432,717 (GRCm39) P301L probably benign Het
Rimbp2 T A 5: 128,851,312 (GRCm39) D878V probably damaging Het
Sarm1 T C 11: 78,374,023 (GRCm39) K668R probably benign Het
Slc10a2 C A 8: 5,155,267 (GRCm39) probably benign Het
Slc15a3 T C 19: 10,826,094 (GRCm39) S262P probably damaging Het
Slf2 T C 19: 44,930,860 (GRCm39) Y646H probably damaging Het
Smpd4 C T 16: 17,457,849 (GRCm39) P406S unknown Het
Sv2b A G 7: 74,789,845 (GRCm39) V396A possibly damaging Het
Swt1 A G 1: 151,246,245 (GRCm39) probably benign Het
Tbc1d9 T C 8: 83,982,501 (GRCm39) V762A probably benign Het
Thbs2 T A 17: 14,900,587 (GRCm39) H540L probably benign Het
Tie1 C A 4: 118,341,356 (GRCm39) G275V possibly damaging Het
Tmprss15 T C 16: 78,754,259 (GRCm39) Y998C probably damaging Het
Trappc10 A T 10: 78,040,130 (GRCm39) V607E possibly damaging Het
Trim69 A T 2: 122,009,264 (GRCm39) R441S probably benign Het
Trio G T 15: 27,774,022 (GRCm39) S1814* probably null Het
Vmn1r192 C T 13: 22,371,333 (GRCm39) V296I probably benign Het
Vmn1r223 A G 13: 23,433,600 (GRCm39) S65G possibly damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r41 A G 7: 8,141,250 (GRCm39) V738A probably benign Het
Zfp408 A G 2: 91,476,065 (GRCm39) V363A possibly damaging Het
Zfp583 A T 7: 6,319,870 (GRCm39) C381S probably damaging Het
Other mutations in Sympk
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TAGTCTGGCTCCATCCTTGG -3'
(R):5'- GTCCCTGCACTGACTTTGAG -3'

Sequencing Primer
(F):5'- CCATCCTTGGATCATTTGTTAGG -3'
(R):5'- GCCTTACACTCACAGGGC -3'
Posted On 2021-11-19