Incidental Mutation 'R8864:Jrkl'
ID 675814
Institutional Source Beutler Lab
Gene Symbol Jrkl
Ensembl Gene ENSMUSG00000079083
Gene Name Jrk-like
Synonyms C030035D04Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R8864 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 13242607-13245829 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13244321 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 445 (D445G)
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: D445G

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000128798
Gene: ENSMUSG00000079083
AA Change: D445G

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: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (41/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,890,425 C297* probably null Het
Adamts3 T C 5: 89,707,122 probably benign Het
Best2 T A 8: 85,009,313 M331L probably benign Het
Cachd1 T A 4: 100,994,829 S1207R probably damaging Het
Cacna2d3 G T 14: 29,333,778 N298K probably damaging Het
Cyp2j12 T C 4: 96,121,513 Y203C probably damaging Het
Dnah8 T C 17: 30,762,642 I3046T possibly damaging Het
Eif3b T C 5: 140,426,532 V252A probably benign Het
Ergic2 A G 6: 148,181,895 V355A probably benign Het
F13a1 C T 13: 36,877,779 G670D probably damaging Het
Gfpt1 T A 6: 87,054,623 D82E probably benign Het
Ggnbp2 G A 11: 84,840,076 R376C probably damaging Het
Gm30302 T C 13: 49,787,512 N241D probably benign Het
Grn T C 11: 102,436,385 F191L unknown Het
Ighv1-16 C T 12: 114,665,999 G56D probably benign Het
Loxl3 A G 6: 83,035,758 T93A probably damaging Het
Lrp1b C T 2: 41,112,706 A2094T Het
Lrriq3 T A 3: 155,187,938 D425E probably damaging Het
Majin T C 19: 6,211,620 V55A possibly damaging Het
Mapk8ip3 A T 17: 24,899,518 V1192E probably damaging Het
Mdga1 T C 17: 29,931,321 S106G unknown Het
Mtch2 C T 2: 90,854,930 R135* probably null Het
Naip1 T C 13: 100,426,320 N779S possibly damaging Het
Nfia T C 4: 98,063,145 V403A possibly damaging Het
Npas4 C A 19: 4,988,528 D121Y probably damaging Het
Rab3gap1 C T 1: 127,909,893 R231W probably damaging Het
Rangap1 C G 15: 81,726,069 probably benign Het
Rgs5 T A 1: 169,690,421 F75I probably benign Het
Rnf19a T C 15: 36,265,306 D215G possibly damaging Het
Rwdd4a A T 8: 47,547,841 probably benign Het
Setd5 G A 6: 113,111,508 R199H probably damaging Het
Spef2 T C 15: 9,599,747 Q2004R unknown Het
Syne1 T C 10: 5,420,473 K236E probably benign Het
Tas2r104 A G 6: 131,685,669 F26L possibly damaging Het
Tbc1d32 T A 10: 56,087,559 E954D probably benign Het
Tenm2 A C 11: 36,027,195 S1914A possibly damaging Het
Tln2 G T 9: 67,330,552 Y32* probably null Het
Tnc C T 4: 63,993,059 R1425H probably damaging Het
Unc13b T C 4: 43,174,724 C1851R unknown Het
Wapl T A 14: 34,692,202 D340E probably benign Het
Zfp74 T C 7: 29,934,810 E491G probably damaging Het
Other mutations in Jrkl
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB007:Jrkl UTSW 9 13245501 missense possibly damaging 0.95
BB017:Jrkl UTSW 9 13245501 missense possibly damaging 0.95
R1185:Jrkl UTSW 9 13244933 missense possibly damaging 0.69
R1185:Jrkl UTSW 9 13244933 missense possibly damaging 0.69
R1185:Jrkl UTSW 9 13244933 missense possibly damaging 0.69
R1432:Jrkl UTSW 9 13245332 missense probably benign 0.15
R1914:Jrkl UTSW 9 13245604 missense possibly damaging 0.48
R1915:Jrkl UTSW 9 13245604 missense possibly damaging 0.48
R2079:Jrkl UTSW 9 13244859 missense probably damaging 1.00
R2155:Jrkl UTSW 9 13244908 nonsense probably null
R3714:Jrkl UTSW 9 13244231 missense possibly damaging 0.77
R3734:Jrkl UTSW 9 13245530 missense possibly damaging 0.95
R4394:Jrkl UTSW 9 13245141 nonsense probably null
R4486:Jrkl UTSW 9 13245371 missense probably benign 0.36
R5687:Jrkl UTSW 9 13244382 missense probably benign 0.07
R5724:Jrkl UTSW 9 13244886 missense possibly damaging 0.68
R6394:Jrkl UTSW 9 13245490 nonsense probably null
R7002:Jrkl UTSW 9 13245521 missense probably damaging 1.00
R7196:Jrkl UTSW 9 13244157 missense probably benign 0.03
R7851:Jrkl UTSW 9 13244349 missense probably benign 0.03
R7930:Jrkl UTSW 9 13245501 missense possibly damaging 0.95
R9062:Jrkl UTSW 9 13245333 missense probably benign 0.06
R9163:Jrkl UTSW 9 13245399 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGATGGTGGCTCTAAGCTTACG -3'
(R):5'- ACTATTAGCAGAGCTTGGAAACAG -3'

Sequencing Primer
(F):5'- GTGGCTCTAAGCTTACGTATTACCAG -3'
(R):5'- GCAGAGCTTGGAAACAGATTCTTCC -3'
Posted On 2021-07-15