Incidental Mutation 'R9062:Jrkl'
ID 689037
Institutional Source Beutler Lab
Gene Symbol Jrkl
Ensembl Gene ENSMUSG00000079083
Gene Name Jrk-like
Synonyms C030035D04Rik
MMRRC Submission 068888-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R9062 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 13242795-13245746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13245338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 108 (F108L)
Ref Sequence ENSEMBL: ENSMUSP00000128798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110582] [ENSMUST00000110583] [ENSMUST00000217444]
AlphaFold B2RRL2
Predicted Effect probably benign
Transcript: ENSMUST00000110582
AA Change: F108L

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000128798
Gene: ENSMUSG00000079083
AA Change: F108L

DomainStartEndE-ValueType
Pfam:CENP-B_N 4 54 6e-18 PFAM
CENPB 73 139 1.45e-24 SMART
Pfam:DDE_1 206 385 1e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110583
SMART Domains Protein: ENSMUSP00000106212
Gene: ENSMUSG00000079084

DomainStartEndE-ValueType
low complexity region 38 70 N/A INTRINSIC
Pfam:DUF4196 98 211 1.8e-50 PFAM
low complexity region 218 231 N/A INTRINSIC
Pfam:DUF4211 273 432 1e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217444
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human (41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 A G 2: 91,740,662 (GRCm39) E1047G possibly damaging Het
Ankfn1 T G 11: 89,325,583 (GRCm39) I530L probably benign Het
Apob A T 12: 8,058,046 (GRCm39) Y2176F possibly damaging Het
Atp5f1a C T 18: 77,866,459 (GRCm39) R171* probably null Het
Atxn10 T C 15: 85,275,918 (GRCm39) V325A probably benign Het
B3galt1 T C 2: 67,948,890 (GRCm39) Y202H Het
Calhm1 A T 19: 47,129,828 (GRCm39) D231E possibly damaging Het
Cel C A 2: 28,451,214 (GRCm39) V48F probably benign Het
Cep78 T A 19: 15,956,318 (GRCm39) Y207F probably benign Het
Cnst T C 1: 179,434,100 (GRCm39) probably null Het
Cpeb2 C A 5: 43,391,171 (GRCm39) N122K Het
Cyth1 T C 11: 118,023,142 (GRCm39) Q432R unknown Het
Eif2ak1 T C 5: 143,803,548 (GRCm39) probably benign Het
Eif6 T C 2: 155,665,928 (GRCm39) T76A probably benign Het
Etfrf1 A T 6: 145,161,153 (GRCm39) N41I probably damaging Het
Etl4 T G 2: 20,748,616 (GRCm39) L318R probably damaging Het
Fam151a G T 4: 106,605,306 (GRCm39) W556L probably benign Het
Gas2l1 A G 11: 5,011,497 (GRCm39) V444A probably benign Het
Gbp8 A G 5: 105,179,124 (GRCm39) I125T possibly damaging Het
Kif13a G T 13: 46,941,536 (GRCm39) D980E possibly damaging Het
Leng9 C T 7: 4,151,666 (GRCm39) A337T probably damaging Het
Lipo3 A C 19: 33,757,714 (GRCm39) C252G probably damaging Het
Lrp4 C A 2: 91,303,925 (GRCm39) D113E possibly damaging Het
Mapk8ip1 T C 2: 92,217,527 (GRCm39) Y265C probably damaging Het
Mios A T 6: 8,233,221 (GRCm39) I790F probably benign Het
Mlf2 G A 6: 124,911,334 (GRCm39) silent Het
Mycbp2 T A 14: 103,479,796 (GRCm39) Y1226F probably benign Het
Ncoa6 T A 2: 155,263,348 (GRCm39) Q362L probably benign Het
Notch3 T C 17: 32,341,692 (GRCm39) D2020G possibly damaging Het
Or4a73 T C 2: 89,420,923 (GRCm39) M179V probably benign Het
Or4c111 T A 2: 88,843,548 (GRCm39) T287S probably damaging Het
Or52z1 T A 7: 103,437,155 (GRCm39) I110L probably benign Het
Or8d1b A T 9: 38,887,421 (GRCm39) I150F probably benign Het
Otop2 C A 11: 115,214,465 (GRCm39) A74E probably benign Het
Pgm1 T C 4: 99,843,954 (GRCm39) I579T probably damaging Het
Preb A G 5: 31,116,196 (GRCm39) V137A probably benign Het
Psap G T 10: 60,131,738 (GRCm39) V244L possibly damaging Het
Setbp1 A G 18: 78,900,266 (GRCm39) S1134P probably benign Het
Skp2 G T 15: 9,113,821 (GRCm39) P399Q probably damaging Het
Slc47a1 T G 11: 61,253,924 (GRCm39) I222L probably benign Het
Spata31h1 A G 10: 82,126,945 (GRCm39) W2022R probably benign Het
Spef2 A G 15: 9,601,717 (GRCm39) L1515S unknown Het
Sri T C 5: 8,106,625 (GRCm39) Y13H unknown Het
Tcf25 T C 8: 124,116,448 (GRCm39) F248L Het
Tdrd12 T C 7: 35,179,694 (GRCm39) T885A unknown Het
Ttn T C 2: 76,600,944 (GRCm39) T18813A probably damaging Het
Usp42 A G 5: 143,703,740 (GRCm39) V441A possibly damaging Het
Vwa1 A T 4: 155,854,820 (GRCm39) S405T probably benign Het
Zbbx A T 3: 74,989,124 (GRCm39) H326Q possibly damaging Het
Zfp64 T C 2: 168,767,747 (GRCm39) T622A probably benign Het
Zfp677 T G 17: 21,612,815 (GRCm39) probably null Het
Other mutations in Jrkl
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB007:Jrkl UTSW 9 13,245,506 (GRCm39) missense possibly damaging 0.95
BB017:Jrkl UTSW 9 13,245,506 (GRCm39) missense possibly damaging 0.95
R1185:Jrkl UTSW 9 13,244,938 (GRCm39) missense possibly damaging 0.69
R1185:Jrkl UTSW 9 13,244,938 (GRCm39) missense possibly damaging 0.69
R1185:Jrkl UTSW 9 13,244,938 (GRCm39) missense possibly damaging 0.69
R1432:Jrkl UTSW 9 13,245,337 (GRCm39) missense probably benign 0.15
R1914:Jrkl UTSW 9 13,245,609 (GRCm39) missense possibly damaging 0.48
R1915:Jrkl UTSW 9 13,245,609 (GRCm39) missense possibly damaging 0.48
R2079:Jrkl UTSW 9 13,244,864 (GRCm39) missense probably damaging 1.00
R2155:Jrkl UTSW 9 13,244,913 (GRCm39) nonsense probably null
R3714:Jrkl UTSW 9 13,244,236 (GRCm39) missense possibly damaging 0.77
R3734:Jrkl UTSW 9 13,245,535 (GRCm39) missense possibly damaging 0.95
R4394:Jrkl UTSW 9 13,245,146 (GRCm39) nonsense probably null
R4486:Jrkl UTSW 9 13,245,376 (GRCm39) missense probably benign 0.36
R5687:Jrkl UTSW 9 13,244,387 (GRCm39) missense probably benign 0.07
R5724:Jrkl UTSW 9 13,244,891 (GRCm39) missense possibly damaging 0.68
R6394:Jrkl UTSW 9 13,245,495 (GRCm39) nonsense probably null
R7002:Jrkl UTSW 9 13,245,526 (GRCm39) missense probably damaging 1.00
R7196:Jrkl UTSW 9 13,244,162 (GRCm39) missense probably benign 0.03
R7851:Jrkl UTSW 9 13,244,354 (GRCm39) missense probably benign 0.03
R7930:Jrkl UTSW 9 13,245,506 (GRCm39) missense possibly damaging 0.95
R8864:Jrkl UTSW 9 13,244,326 (GRCm39) missense probably benign 0.06
R9163:Jrkl UTSW 9 13,245,404 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGATAGTTTCTTTTCATGGCTGC -3'
(R):5'- AAGGAAAAGATCATAACTTATGCAAGC -3'

Sequencing Primer
(F):5'- TGTGCCCAGGGACAGTACATTTAC -3'
(R):5'- ATGCAAGCAGCTCTGATTCC -3'
Posted On 2021-11-19