Incidental Mutation 'R7411:Jrk'
ID 575108
Institutional Source Beutler Lab
Gene Symbol Jrk
Ensembl Gene ENSMUSG00000046380
Gene Name jerky
MMRRC Submission 045492-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R7411 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 74702301-74709535 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 74707199 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 79 (R79H)
Ref Sequence ENSEMBL: ENSMUSP00000051842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050234]
AlphaFold Q60976
Predicted Effect possibly damaging
Transcript: ENSMUST00000050234
AA Change: R79H

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000051842
Gene: ENSMUSG00000046380
AA Change: R79H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C T 19: 3,717,241 (GRCm38) T276I possibly damaging Het
Abca17 A G 17: 24,328,569 (GRCm38) I277T possibly damaging Het
Abcb11 C T 2: 69,303,936 (GRCm38) probably null Het
Abcc12 C A 8: 86,560,850 (GRCm38) R122L possibly damaging Het
Abcc8 A G 7: 46,165,917 (GRCm38) probably null Het
Adam28 C T 14: 68,626,947 (GRCm38) R469K probably damaging Het
Adamts18 T C 8: 113,777,730 (GRCm38) Y243C probably damaging Het
Agbl3 T C 6: 34,814,819 (GRCm38) S619P probably damaging Het
Alpk3 A T 7: 81,092,852 (GRCm38) T806S probably benign Het
Armh3 A C 19: 45,965,435 (GRCm38) V170G probably benign Het
Atoh1 T A 6: 64,729,930 (GRCm38) I203N probably damaging Het
Cables1 A G 18: 11,840,515 (GRCm38) E237G probably benign Het
Cacna1d A G 14: 30,352,990 (GRCm38) M1T probably null Het
Ccdc91 C T 6: 147,592,198 (GRCm38) Q363* probably null Het
Cdhr17 A T 5: 16,824,765 (GRCm38) T500S possibly damaging Het
Ceacam5 T A 7: 17,750,753 (GRCm38) D473E probably damaging Het
Cfap54 T A 10: 92,868,755 (GRCm38) D2821V unknown Het
Clca3a2 A G 3: 144,802,099 (GRCm38) S737P probably damaging Het
Clec4n T A 6: 123,232,186 (GRCm38) M70K probably benign Het
Dnai3 A G 3: 146,097,145 (GRCm38) V97A probably damaging Het
Dstyk G A 1: 132,417,666 (GRCm38) G21S probably benign Het
Enpp5 A G 17: 44,081,475 (GRCm38) D265G probably damaging Het
Gabrb1 T C 5: 72,122,195 (GRCm38) probably null Het
Gm11639 T G 11: 104,999,723 (GRCm38) N4210K probably benign Het
Guk1 A G 11: 59,185,985 (GRCm38) F91L Het
Ints1 C T 5: 139,764,260 (GRCm38) E961K possibly damaging Het
Irx2 T A 13: 72,629,063 (GRCm38) M1K probably null Het
Kcnu1 G T 8: 25,892,088 (GRCm38) V489L probably damaging Het
Kctd7 C T 5: 130,152,424 (GRCm38) T209M probably benign Het
Kdm5a T A 6: 120,426,815 (GRCm38) V1127E probably damaging Het
Klk6 A G 7: 43,826,943 (GRCm38) H69R probably damaging Het
Lck T C 4: 129,551,970 (GRCm38) K340R probably benign Het
Lrrc75a A G 11: 62,605,908 (GRCm38) L276P probably damaging Het
Med25 A G 7: 44,878,243 (GRCm38) W730R probably damaging Het
Muc4 T C 16: 32,751,322 (GRCm38) V400A probably benign Het
Myl10 G C 5: 136,697,971 (GRCm38) V70L probably benign Het
Myt1 C A 2: 181,815,106 (GRCm38) H906Q probably damaging Het
Ncl A T 1: 86,350,842 (GRCm38) F673I probably damaging Het
Nfe2l1 G T 11: 96,822,183 (GRCm38) T216N probably benign Het
Nos2 G A 11: 78,944,855 (GRCm38) probably null Het
Nphp4 T A 4: 152,554,717 (GRCm38) I935N probably benign Het
Ntn1 G A 11: 68,386,089 (GRCm38) A11V probably benign Het
Or2t26 A T 11: 49,148,994 (GRCm38) M246L probably benign Het
Or4c10b T C 2: 89,881,261 (GRCm38) V145A probably damaging Het
Pate11 T C 9: 36,475,684 (GRCm38) V16A possibly damaging Het
Pcdha12 A G 18: 37,021,608 (GRCm38) Y460C probably damaging Het
Pcdha4 G T 18: 36,953,058 (GRCm38) R98L probably benign Het
Pitpnc1 A G 11: 107,212,572 (GRCm38) S234P probably damaging Het
Pmfbp1 A T 8: 109,513,871 (GRCm38) Y195F probably damaging Het
Prl6a1 T C 13: 27,318,142 (GRCm38) I164T probably damaging Het
Ptpn18 G A 1: 34,472,192 (GRCm38) probably null Het
Rhbdl2 G A 4: 123,829,642 (GRCm38) A280T possibly damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,579,932 (GRCm38) probably benign Het
Sema3a T G 5: 13,516,263 (GRCm38) Y171* probably null Het
Set A G 2: 30,066,885 (GRCm38) E22G probably benign Het
Sirpb1b A T 3: 15,542,997 (GRCm38) D229E probably benign Het
Slc12a2 A T 18: 57,941,013 (GRCm38) I1096F probably benign Het
Slc30a5 T C 13: 100,818,180 (GRCm38) I159V probably benign Het
Slc6a20b A G 9: 123,604,948 (GRCm38) I275T probably benign Het
Speer1e T A 5: 11,183,149 (GRCm38) probably null Het
Stradb A C 1: 58,988,518 (GRCm38) D69A possibly damaging Het
Supt16 A T 14: 52,178,051 (GRCm38) V409E probably damaging Het
Tcea2 A G 2: 181,686,664 (GRCm38) N195S probably damaging Het
Thumpd3 T C 6: 113,056,111 (GRCm38) V270A possibly damaging Het
Urgcp T A 11: 5,718,116 (GRCm38) H117L probably benign Het
Vps13c T A 9: 67,972,001 (GRCm38) M3408K probably damaging Het
Wdfy4 A C 14: 33,106,131 (GRCm38) M1078R Het
Ypel5 G A 17: 72,846,444 (GRCm38) probably null Het
Other mutations in Jrk
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0144:Jrk UTSW 15 74,706,156 (GRCm38) missense probably benign 0.01
R1871:Jrk UTSW 15 74,706,563 (GRCm38) missense possibly damaging 0.91
R3417:Jrk UTSW 15 74,706,885 (GRCm38) missense probably damaging 0.96
R4867:Jrk UTSW 15 74,707,220 (GRCm38) missense probably benign 0.00
R5294:Jrk UTSW 15 74,707,336 (GRCm38) missense possibly damaging 0.88
R5769:Jrk UTSW 15 74,706,068 (GRCm38) missense probably benign 0.19
R5911:Jrk UTSW 15 74,705,768 (GRCm38) missense possibly damaging 0.88
R6123:Jrk UTSW 15 74,706,680 (GRCm38) missense possibly damaging 0.46
R6176:Jrk UTSW 15 74,706,340 (GRCm38) missense possibly damaging 0.47
R7480:Jrk UTSW 15 74,707,053 (GRCm38) missense probably benign 0.16
R8353:Jrk UTSW 15 74,706,625 (GRCm38) nonsense probably null
R8878:Jrk UTSW 15 74,707,139 (GRCm38) missense probably benign 0.33
R8882:Jrk UTSW 15 74,707,155 (GRCm38) missense probably damaging 1.00
R9583:Jrk UTSW 15 74,706,554 (GRCm38) missense probably damaging 0.98
R9748:Jrk UTSW 15 74,707,376 (GRCm38) missense probably damaging 1.00
Z1088:Jrk UTSW 15 74,707,394 (GRCm38) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-07