Incidental Mutation 'R5769:Jrk'
ID 446458
Institutional Source Beutler Lab
Gene Symbol Jrk
Ensembl Gene ENSMUSG00000046380
Gene Name jerky
Synonyms
MMRRC Submission 043369-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R5769 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 74574261-74581171 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 74577917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 456 (Q456R)
Ref Sequence ENSEMBL: ENSMUSP00000051842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050234]
AlphaFold Q60976
Predicted Effect probably benign
Transcript: ENSMUST00000050234
AA Change: Q456R

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000051842
Gene: ENSMUSG00000046380
AA Change: Q456R

DomainStartEndE-ValueType
Pfam:CENP-B_N 14 66 5.3e-27 PFAM
CENPB 83 149 8.82e-24 SMART
Pfam:DDE_1 213 382 2.2e-46 PFAM
low complexity region 395 405 N/A INTRINSIC
low complexity region 468 481 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000056711
SMART Domains Protein: ENSMUSP00000060582
Gene: ENSMUSG00000044276

DomainStartEndE-ValueType
low complexity region 6 19 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185751
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (65/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Heterozygous mutants show whole body jerks, clonic seizures and epileptic brain activity. Homozygous mutants show elevated seizure susceptibility, impaired postnatal growth, reduced life span, male sterility and impaired female fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T A 5: 138,644,595 (GRCm39) V160E possibly damaging Het
Abcb1a A C 5: 8,733,426 (GRCm39) E106A probably benign Het
Acap3 A T 4: 155,986,857 (GRCm39) D371V probably damaging Het
Ahi1 T C 10: 20,835,981 (GRCm39) probably null Het
Coq8a A G 1: 180,006,681 (GRCm39) Y69H probably damaging Het
Defb33 T A 8: 21,387,543 (GRCm39) F27I possibly damaging Het
Dhx29 T A 13: 113,090,251 (GRCm39) L776Q probably damaging Het
Dnah3 G A 7: 119,689,175 (GRCm39) R80* probably null Het
Dtna A T 18: 23,784,611 (GRCm39) D646V probably benign Het
Eml5 T A 12: 98,756,878 (GRCm39) D1964V probably damaging Het
Fbn2 A T 18: 58,238,271 (GRCm39) N575K probably damaging Het
Fbxo38 G A 18: 62,648,036 (GRCm39) P834L probably benign Het
Fyb2 G T 4: 104,870,518 (GRCm39) K706N probably damaging Het
Fyb2 T A 4: 104,872,841 (GRCm39) V738E probably damaging Het
Gcm1 A G 9: 77,972,249 (GRCm39) T397A probably benign Het
Gins1 A T 2: 150,767,918 (GRCm39) E149D probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Grin2a C T 16: 9,579,390 (GRCm39) R291K possibly damaging Het
Hdac10 T C 15: 89,007,819 (GRCm39) M646V probably benign Het
Hes6 G T 1: 91,340,671 (GRCm39) R38S probably damaging Het
Hipk3 G A 2: 104,265,298 (GRCm39) P667S possibly damaging Het
Klf18 A C 4: 117,586,162 (GRCm39) probably benign Het
Loxl3 A G 6: 83,027,581 (GRCm39) T708A probably damaging Het
Lyg1 T C 1: 37,989,831 (GRCm39) S19G unknown Het
Magel2 T A 7: 62,027,861 (GRCm39) M255K probably benign Het
Mctp1 A G 13: 76,907,927 (GRCm39) D242G probably damaging Het
Med13 A T 11: 86,236,829 (GRCm39) N109K probably benign Het
Mms19 A G 19: 41,952,825 (GRCm39) F95L probably damaging Het
Nav1 A G 1: 135,379,995 (GRCm39) L1569P probably damaging Het
Nup188 A G 2: 30,220,747 (GRCm39) E940G probably benign Het
Oas1d T C 5: 121,054,917 (GRCm39) F163S probably benign Het
Odf2l A G 3: 144,841,492 (GRCm39) K304R possibly damaging Het
Otud3 T A 4: 138,625,421 (GRCm39) N211I possibly damaging Het
Pabpc6 A T 17: 9,886,772 (GRCm39) L593* probably null Het
Pdcd11 T A 19: 47,091,076 (GRCm39) L350Q possibly damaging Het
Pdia4 A G 6: 47,792,446 (GRCm39) probably benign Het
Pik3cb G A 9: 98,975,212 (GRCm39) Q223* probably null Het
Plb1 G A 5: 32,474,866 (GRCm39) V696M probably benign Het
Ppp2r5a T C 1: 191,104,863 (GRCm39) D61G probably benign Het
Preb G T 5: 31,115,635 (GRCm39) Y87* probably null Het
Rdh16f2 A T 10: 127,712,758 (GRCm39) N252I probably benign Het
Rida T C 15: 34,484,704 (GRCm39) probably benign Het
Rxrb T C 17: 34,251,821 (GRCm39) probably benign Het
Sis T A 3: 72,835,568 (GRCm39) K931N probably damaging Het
Srcap T A 7: 127,158,994 (GRCm39) probably benign Het
Srp68 A G 11: 116,137,495 (GRCm39) S525P probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Synj1 A G 16: 90,735,141 (GRCm39) probably benign Het
Syt12 T C 19: 4,501,072 (GRCm39) Y326C probably damaging Het
Tesk2 A G 4: 116,659,512 (GRCm39) probably null Het
Tmem41b G A 7: 109,577,945 (GRCm39) T113I possibly damaging Het
Tmtc2 T C 10: 105,205,907 (GRCm39) I463V probably benign Het
Trak1 A T 9: 121,277,904 (GRCm39) D320V probably damaging Het
Ushbp1 A T 8: 71,838,863 (GRCm39) N570K probably benign Het
Vmn1r33 T A 6: 66,588,817 (GRCm39) I246F possibly damaging Het
Vmn2r54 A C 7: 12,349,209 (GRCm39) L791R possibly damaging Het
Washc1 A T 17: 66,425,111 (GRCm39) T372S probably benign Het
Zfp1005 A G 2: 150,110,198 (GRCm39) E296G possibly damaging Het
Other mutations in Jrk
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0144:Jrk UTSW 15 74,578,005 (GRCm39) missense probably benign 0.01
R1871:Jrk UTSW 15 74,578,412 (GRCm39) missense possibly damaging 0.91
R3417:Jrk UTSW 15 74,578,734 (GRCm39) missense probably damaging 0.96
R4867:Jrk UTSW 15 74,579,069 (GRCm39) missense probably benign 0.00
R5294:Jrk UTSW 15 74,579,185 (GRCm39) missense possibly damaging 0.88
R5911:Jrk UTSW 15 74,577,617 (GRCm39) missense possibly damaging 0.88
R6123:Jrk UTSW 15 74,578,529 (GRCm39) missense possibly damaging 0.46
R6176:Jrk UTSW 15 74,578,189 (GRCm39) missense possibly damaging 0.47
R7411:Jrk UTSW 15 74,579,048 (GRCm39) missense possibly damaging 0.47
R7480:Jrk UTSW 15 74,578,902 (GRCm39) missense probably benign 0.16
R8353:Jrk UTSW 15 74,578,474 (GRCm39) nonsense probably null
R8878:Jrk UTSW 15 74,578,988 (GRCm39) missense probably benign 0.33
R8882:Jrk UTSW 15 74,579,004 (GRCm39) missense probably damaging 1.00
R9583:Jrk UTSW 15 74,578,403 (GRCm39) missense probably damaging 0.98
R9748:Jrk UTSW 15 74,579,225 (GRCm39) missense probably damaging 1.00
Z1088:Jrk UTSW 15 74,579,243 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTTGATCACAGCCCTGAGAG -3'
(R):5'- CTGTCACGTTCACTGAAGGC -3'

Sequencing Primer
(F):5'- GCTGCTGCTGTCTCCTGAAC -3'
(R):5'- ACTGAAGGCTCCTCCTCTGAG -3'
Posted On 2016-11-21