Incidental Mutation 'R5052:Sympk'
ID 394697
Institutional Source Beutler Lab
Gene Symbol Sympk
Ensembl Gene ENSMUSG00000023118
Gene Name symplekin
Synonyms 1500016F02Rik, 4632415H16Rik
MMRRC Submission 042642-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R5052 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 18758321-18788542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 18769967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 215 (R215C)
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: R215C

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
AA Change: R215C

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 noncoding transcript
Transcript: ENSMUST00000137287
Predicted Effect probably benign
Transcript: ENSMUST00000146903
AA Change: R215C

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000138740
Gene: ENSMUSG00000023118
AA Change: R215C

DomainStartEndE-ValueType
Pfam:DUF3453 117 230 1.1e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153976
SMART Domains Protein: ENSMUSP00000121540
Gene: ENSMUSG00000023118

DomainStartEndE-ValueType
Pfam:Cohesin_HEAT 48 96 9e-7 PFAM
Pfam:DUF3453 117 198 2.2e-24 PFAM
Meta Mutation Damage Score 0.1910 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.0%
  • 10x: 94.8%
  • 20x: 86.2%
Validation Efficiency 100% (58/58)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 A T 3: 121,563,162 (GRCm39) probably null Het
Adgrv1 T C 13: 81,676,940 (GRCm39) T1964A probably damaging Het
Agbl5 C T 5: 31,048,558 (GRCm39) T210I possibly damaging Het
Ak5 T C 3: 152,366,204 (GRCm39) T66A probably benign Het
Aktip G A 8: 91,856,279 (GRCm39) T66I possibly damaging Het
Aldh1l2 T C 10: 83,344,556 (GRCm39) Y330C possibly damaging Het
Btbd19 T G 4: 116,979,454 (GRCm39) K122Q possibly damaging Het
Cd180 A G 13: 102,841,403 (GRCm39) T150A probably benign Het
Celsr2 A G 3: 108,319,674 (GRCm39) I1046T probably damaging Het
Cep170 C T 1: 176,621,117 (GRCm39) R20Q probably damaging Het
Cercam T A 2: 29,765,639 (GRCm39) N260K probably damaging Het
Cfh T A 1: 140,071,782 (GRCm39) H284L probably damaging Het
Chmp5 A G 4: 40,948,608 (GRCm39) M1V probably null Het
Elp3 A T 14: 65,815,389 (GRCm39) I220N probably damaging Het
Esyt2 A G 12: 116,331,416 (GRCm39) T765A probably damaging Het
Evi5l T C 8: 4,256,019 (GRCm39) probably benign Het
Gm5866 T G 5: 52,740,234 (GRCm39) noncoding transcript Het
Grik1 C A 16: 87,746,986 (GRCm39) G417V probably benign Het
Gtpbp1 T G 15: 79,600,170 (GRCm39) I399R probably damaging Het
Il17rc T C 6: 113,449,284 (GRCm39) C14R probably damaging Het
Ipo9 T C 1: 135,316,349 (GRCm39) probably null Het
Kazn G A 4: 141,845,514 (GRCm39) probably benign Het
Map3k15 T C X: 158,771,742 (GRCm39) V105A possibly damaging Het
Mitf A G 6: 97,987,406 (GRCm39) T320A possibly damaging Het
Ncapd3 T G 9: 26,963,015 (GRCm39) L440R probably damaging Het
Nrxn2 C G 19: 6,505,234 (GRCm39) A359G probably damaging Het
P2rx3 T G 2: 84,829,368 (GRCm39) I371L probably benign Het
Pde1b C A 15: 103,436,075 (GRCm39) Q493K possibly damaging Het
Ptpn13 T C 5: 103,709,846 (GRCm39) F1503S probably damaging Het
Ptprz1 T G 6: 23,045,625 (GRCm39) W1283G probably damaging Het
Rasd2 T A 8: 75,948,564 (GRCm39) D163E possibly damaging Het
Rgs11 A G 17: 26,426,947 (GRCm39) probably benign Het
Scap T C 9: 110,182,220 (GRCm39) I37T possibly damaging Het
Sgms2 C T 3: 131,124,005 (GRCm39) V232M probably benign Het
Slc25a54 A G 3: 109,010,016 (GRCm39) I172V probably benign Het
Tacc2 T A 7: 130,336,744 (GRCm39) D171E probably damaging Het
Tmco4 A G 4: 138,785,817 (GRCm39) E629G probably benign Het
Trav7-1 T G 14: 52,892,765 (GRCm39) L106R possibly damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Utf1 T C 7: 139,524,814 (GRCm39) probably benign Het
Zdhhc13 A G 7: 48,474,479 (GRCm39) N577S possibly damaging Het
Zmym6 A G 4: 127,017,767 (GRCm39) N1183D possibly 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
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'- CATGGTGTCCTCTATGGCTG -3'
(R):5'- GGCAACAGCATTGTGGGATG -3'

Sequencing Primer
(F):5'- CCTCTATGGCTGGGGAAATCATC -3'
(R):5'- TTTACGGCAGGCAAGCACTTTAC -3'
Posted On 2016-06-15