Incidental Mutation 'IGL02991:Sympk'
ID 452922
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 # IGL02991 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 18758321-18788542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 18764502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 69 (L69Q)
Ref Sequence ENSEMBL: ENSMUSP00000121540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023882] [ENSMUST00000146903] [ENSMUST00000153976]
AlphaFold Q80X82
Predicted Effect probably damaging
Transcript: ENSMUST00000023882
AA Change: L69Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
AA Change: L69Q

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 damaging
Transcript: ENSMUST00000146903
AA Change: L69Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138740
Gene: ENSMUSG00000023118
AA Change: L69Q

DomainStartEndE-ValueType
Pfam:DUF3453 117 230 1.1e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153976
AA Change: L69Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121540
Gene: ENSMUSG00000023118
AA Change: L69Q

DomainStartEndE-ValueType
Pfam:Cohesin_HEAT 48 96 9e-7 PFAM
Pfam:DUF3453 117 198 2.2e-24 PFAM
Meta Mutation Damage Score 0.5090 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 95% (73/77)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Adam23 T C 1: 63,586,978 (GRCm39) probably null Het
Aptx C A 4: 40,686,687 (GRCm39) G199C probably damaging Het
Asap2 T C 12: 21,299,294 (GRCm39) probably benign Het
Atp11b A G 3: 35,881,140 (GRCm39) T566A probably benign Het
Bcas3 C T 11: 85,348,713 (GRCm39) Q202* probably null Het
Cacna1h C A 17: 25,610,286 (GRCm39) R740L possibly damaging Het
Casp8 T A 1: 58,866,438 (GRCm39) N146K probably benign Het
Ccdc63 T C 5: 122,246,275 (GRCm39) M549V probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh20 T C 1: 104,861,972 (GRCm39) S51P probably benign Het
Chd7 T C 4: 8,828,398 (GRCm39) M1113T possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 ACC AC 1: 139,164,822 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Cxcl11 C T 5: 92,509,169 (GRCm39) R28H probably damaging Het
Defb40 C T 8: 19,025,119 (GRCm39) C29Y probably damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Fen1 A T 19: 10,178,026 (GRCm39) D139E probably benign Het
Frem3 A G 8: 81,395,511 (GRCm39) E1846G probably damaging Het
Gria2 T A 3: 80,615,116 (GRCm39) K455* probably null Het
Hmcn1 A T 1: 150,614,409 (GRCm39) N1332K possibly damaging Het
Htr5b C T 1: 121,455,756 (GRCm39) V55M probably benign Het
Ighv6-5 A T 12: 114,380,315 (GRCm39) N86K probably benign Het
Il4ra T C 7: 125,174,833 (GRCm39) V347A possibly damaging Het
Itih5 A G 2: 10,256,162 (GRCm39) E876G probably benign Het
Itpkb A T 1: 180,155,279 (GRCm39) probably benign Het
Lbr T C 1: 181,649,117 (GRCm39) Y334C probably damaging Het
Lrfn2 T C 17: 49,377,732 (GRCm39) L271P probably damaging Het
Lss T A 10: 76,379,745 (GRCm39) probably benign Het
Map1a T C 2: 121,132,091 (GRCm39) V731A probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mob3b T A 4: 35,083,805 (GRCm39) Q128L probably benign Het
Mog T C 17: 37,334,091 (GRCm39) M1V probably null Het
Mrpl4 A G 9: 20,919,901 (GRCm39) Y284C probably damaging Het
Mtus2 T G 5: 148,250,310 (GRCm39) V310G probably damaging Het
Mup11 ACAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCA 4: 60,618,275 (GRCm39) probably benign Het
Odad4 A G 11: 100,444,698 (GRCm39) S285G probably benign Het
Or10g9 T C 9: 39,911,698 (GRCm39) Y275C probably damaging Het
Or8g55 T A 9: 39,785,362 (GRCm39) S264T probably benign Het
Orc3 T G 4: 34,593,083 (GRCm39) Q328P probably damaging Het
Otulinl T C 15: 27,658,388 (GRCm39) S211G possibly damaging Het
Pcdhb20 G T 18: 37,639,264 (GRCm39) G597C probably damaging Het
Pdxdc1 A G 16: 13,675,260 (GRCm39) I334T probably damaging Het
Ppef2 C T 5: 92,383,759 (GRCm39) W450* probably null Het
Proz G A 8: 13,123,490 (GRCm39) E254K probably benign Het
Psma6 T C 12: 55,454,357 (GRCm39) probably benign Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Ryr2 A G 13: 11,776,192 (GRCm39) V1115A probably damaging Het
Sfxn5 G T 6: 85,266,190 (GRCm39) N102K possibly damaging Het
Sgo2a G T 1: 58,054,514 (GRCm39) probably benign Het
Slc14a2 A T 18: 78,249,049 (GRCm39) M1K probably null Het
Spag5 T A 11: 78,205,077 (GRCm39) L621M probably damaging Het
Spata31 A G 13: 65,068,533 (GRCm39) Y227C probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Supt6 T C 11: 78,116,179 (GRCm39) E728G probably damaging Het
Timd4 T A 11: 46,732,974 (GRCm39) probably benign Het
Trh G A 6: 92,220,719 (GRCm39) R48W probably damaging Het
Trip12 C A 1: 84,716,536 (GRCm39) D383Y probably damaging Het
Tspo2 T A 17: 48,757,014 (GRCm39) I23F possibly damaging Het
Tspyl5 A G 15: 33,686,989 (GRCm39) S319P probably damaging Het
Txlnb A G 10: 17,717,201 (GRCm39) K403E probably damaging Het
Vmn2r34 C A 7: 7,675,720 (GRCm39) C556F probably damaging Het
Vps13c C A 9: 67,821,159 (GRCm39) A1223E 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
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
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'- AGGCACATTGAGCTCAGAGG -3'
(R):5'- CCATGCCTCCTCAATGAAGC -3'

Sequencing Primer
(F):5'- AAGTGGCTCCCAGAGATGCTATTC -3'
(R):5'- TGCCTCCTCAATGAAGCCAATG -3'
Posted On 2017-01-24