Incidental Mutation 'R3112:Sympk'
ID 263738
Institutional Source Beutler Lab
Gene Symbol Sympk
Ensembl Gene ENSMUSG00000023118
Gene Name symplekin
Synonyms 1500016F02Rik, 4632415H16Rik
MMRRC Submission 040585-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R3112 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 18758321-18788542 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18768409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 126 (V126A)
Ref Sequence ENSEMBL: ENSMUSP00000121540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023882] [ENSMUST00000146903] [ENSMUST00000153976]
AlphaFold Q80X82
Predicted Effect probably benign
Transcript: ENSMUST00000023882
AA Change: V126A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
AA Change: V126A

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: V126A

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000138740
Gene: ENSMUSG00000023118
AA Change: V126A

DomainStartEndE-ValueType
Pfam:DUF3453 117 230 1.1e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000153976
AA Change: V126A

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000121540
Gene: ENSMUSG00000023118
AA Change: V126A

DomainStartEndE-ValueType
Pfam:Cohesin_HEAT 48 96 9e-7 PFAM
Pfam:DUF3453 117 198 2.2e-24 PFAM
Meta Mutation Damage Score 0.1522 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (38/38)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,069,655 (GRCm39) K1554* probably null Het
Acads T C 5: 115,255,757 (GRCm39) H26R probably benign Het
Acer1 G A 17: 57,265,406 (GRCm39) T141I probably damaging Het
Adam15 C G 3: 89,254,764 (GRCm39) V99L probably benign Het
Ankrd13b A G 11: 77,368,331 (GRCm39) V97A possibly damaging Het
Anpep T C 7: 79,491,720 (GRCm39) T94A probably benign Het
Atp1a3 T C 7: 24,694,119 (GRCm39) N345S probably damaging Het
Btn1a1 T A 13: 23,645,721 (GRCm39) N216I possibly damaging Het
Cacna1s G A 1: 136,002,831 (GRCm39) W62* probably null Het
Ccdc141 C T 2: 76,869,830 (GRCm39) V892I probably benign Het
Ccdc180 T A 4: 45,900,470 (GRCm39) I278K possibly damaging Het
Cdc7 T G 5: 107,122,564 (GRCm39) probably null Het
Cpb1 C T 3: 20,319,521 (GRCm39) V188M probably damaging Het
Dock5 A G 14: 68,095,371 (GRCm39) I101T possibly damaging Het
Dqx1 T C 6: 83,035,953 (GRCm39) V95A probably damaging Het
Dvl1 T A 4: 155,938,123 (GRCm39) D90E probably damaging Het
Fam135b T C 15: 71,335,879 (GRCm39) I438M probably benign Het
Fpr1 A T 17: 18,096,897 (GRCm39) M364K probably benign Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Gpx7 C A 4: 108,260,470 (GRCm39) V109F probably damaging Het
Grhl2 T C 15: 37,336,591 (GRCm39) probably null Het
Grn A G 11: 102,324,069 (GRCm39) T53A probably benign Het
H1f4 T C 13: 23,805,829 (GRCm39) probably benign Het
H2-T9 T C 17: 36,440,038 (GRCm39) Y32C probably damaging Het
Hmgxb3 T C 18: 61,280,454 (GRCm39) N683S probably damaging Het
Iigp1 T C 18: 60,523,983 (GRCm39) I367T probably benign Het
Itfg2 T C 6: 128,388,632 (GRCm39) E285G probably damaging Het
Itgav T A 2: 83,622,915 (GRCm39) C662* probably null Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Lipe T C 7: 25,097,848 (GRCm39) T32A probably benign Het
Lrrk2 A G 15: 91,698,898 (GRCm39) Y2475C probably benign Het
Mcc T C 18: 44,582,330 (GRCm39) D607G probably damaging Het
Mip T A 10: 128,061,875 (GRCm39) L42* probably null Het
Mlc1 A T 15: 88,850,199 (GRCm39) D192E probably benign Het
Muc2 T C 7: 141,299,225 (GRCm39) probably benign Het
Mybl1 T C 1: 9,752,095 (GRCm39) D260G probably damaging Het
Ncln C T 10: 81,323,519 (GRCm39) V51I probably benign Het
Nlrp9a T C 7: 26,257,297 (GRCm39) V305A probably benign Het
Nodal G A 10: 61,260,276 (GRCm39) R309Q possibly damaging Het
Olr1 T C 6: 129,476,881 (GRCm39) N128S possibly damaging Het
Or10ak14 A T 4: 118,611,421 (GRCm39) F105I probably damaging Het
Or12j5 A G 7: 140,083,832 (GRCm39) I180T probably damaging Het
Or14a256 T C 7: 86,264,884 (GRCm39) Y323C probably benign Het
Orc1 T A 4: 108,461,757 (GRCm39) C585S probably benign Het
Pcmtd2 A T 2: 181,496,922 (GRCm39) I300F probably damaging Het
Pfkfb4 C T 9: 108,854,110 (GRCm39) probably benign Het
Phactr3 T A 2: 177,920,810 (GRCm39) L180Q possibly damaging Het
Pigo T C 4: 43,021,083 (GRCm39) T612A probably benign Het
Plch1 T A 3: 63,616,952 (GRCm39) D766V probably damaging Het
Plekhh3 T C 11: 101,054,973 (GRCm39) probably benign Het
Potefam1 T G 2: 111,058,399 (GRCm39) L131F probably damaging Het
Ppp1r12b T A 1: 134,800,570 (GRCm39) T547S probably damaging Het
Prkcb T A 7: 122,116,079 (GRCm39) M186K probably damaging Het
Prpf3 A T 3: 95,757,112 (GRCm39) probably benign Het
Psg23 T C 7: 18,344,369 (GRCm39) D362G possibly damaging Het
Reg3a T C 6: 78,358,114 (GRCm39) L15P probably damaging Het
Scrib A T 15: 75,941,223 (GRCm39) I5N probably damaging Het
Speg C T 1: 75,399,326 (GRCm39) Q2005* probably null Het
Sppl3 A T 5: 115,212,923 (GRCm39) S51C possibly damaging Het
Sspo A G 6: 48,434,534 (GRCm39) T1009A probably damaging Het
Syce1l A G 8: 114,381,579 (GRCm39) Q164R probably benign Het
Tas2r110 T A 6: 132,844,987 (GRCm39) I6K unknown Het
Tas2r120 A T 6: 132,634,731 (GRCm39) H271L probably damaging Het
Tlcd3a A G 11: 76,093,057 (GRCm39) D33G probably benign Het
Tnn T A 1: 159,943,856 (GRCm39) T986S possibly damaging Het
Trim5 T C 7: 103,928,845 (GRCm39) H32R probably damaging Het
Ttc13 A G 8: 125,410,573 (GRCm39) I360T possibly damaging Het
Uaca A G 9: 60,778,781 (GRCm39) E1054G probably damaging Het
Usp16 T A 16: 87,268,736 (GRCm39) probably null Het
Wee1 T A 7: 109,730,043 (GRCm39) S382R probably damaging Het
Wnt11 T C 7: 98,495,771 (GRCm39) S92P probably damaging Het
Zfp1004 C G 2: 150,034,141 (GRCm39) P185R probably damaging Het
Zfp786 A G 6: 47,797,160 (GRCm39) C593R probably damaging Het
Zfp879 T G 11: 50,723,989 (GRCm39) I283L 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
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'- TGACAAAGAATCTCATGCCTCC -3'
(R):5'- ACAACTCAGATGGGCCATGG -3'

Sequencing Primer
(F):5'- AAGAATCTCATGCCTCCACAGTTTC -3'
(R):5'- CACAAAATGGGGCTTGAGTATAGCTC -3'
Posted On 2015-02-05