Incidental Mutation 'R3417:Jrk'
ID 266865
Institutional Source Beutler Lab
Gene Symbol Jrk
Ensembl Gene ENSMUSG00000046380
Gene Name jerky
Synonyms
MMRRC Submission 040635-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R3417 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 74574261-74581171 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74578734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 184 (Y184H)
Ref Sequence ENSEMBL: ENSMUSP00000051842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050234]
AlphaFold Q60976
Predicted Effect probably damaging
Transcript: ENSMUST00000050234
AA Change: Y184H

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000051842
Gene: ENSMUSG00000046380
AA Change: Y184H

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 0.1086 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,224,302 (GRCm39) probably benign Het
Adgrl2 T C 3: 148,564,965 (GRCm39) Y201C probably damaging Het
Ankar A G 1: 72,698,135 (GRCm39) probably null Het
Ankrd17 G A 5: 90,391,772 (GRCm39) T1857I possibly damaging Het
Atp6v0d2 A G 4: 19,888,829 (GRCm39) probably benign Het
Cep170 G T 1: 176,583,610 (GRCm39) P923Q probably damaging Het
Cfc1 A T 1: 34,575,457 (GRCm39) R44* probably null Het
Col6a1 C T 10: 76,548,203 (GRCm39) V618M unknown Het
Crmp1 A T 5: 37,426,031 (GRCm39) I159L possibly damaging Het
Crocc G A 4: 140,773,758 (GRCm39) T103I possibly damaging Het
Cyp4f39 T C 17: 32,708,716 (GRCm39) V421A possibly damaging Het
Ero1a T C 14: 45,525,323 (GRCm39) T401A possibly damaging Het
Exoc6b C G 6: 84,867,547 (GRCm39) L288F possibly damaging Het
Fsip2 G A 2: 82,816,854 (GRCm39) V4196I possibly damaging Het
Icosl A T 10: 77,907,869 (GRCm39) N143I possibly damaging Het
Igsf9b G A 9: 27,220,774 (GRCm39) V47I possibly damaging Het
Irag1 T C 7: 110,476,161 (GRCm39) T597A possibly damaging Het
Kdm5b T C 1: 134,515,715 (GRCm39) L113P probably damaging Het
Klhl42 G A 6: 147,009,378 (GRCm39) V406M probably damaging Het
Lrp12 A G 15: 39,741,678 (GRCm39) F365L probably damaging Het
Lrrc37 A T 11: 103,505,435 (GRCm39) S2178T possibly damaging Het
Map4k5 A T 12: 69,856,038 (GRCm39) V716E probably damaging Het
Mcm9 T C 10: 53,413,503 (GRCm39) T1264A possibly damaging Het
Mia3 T A 1: 183,143,444 (GRCm39) D100V probably damaging Het
Mrgprb2 C A 7: 48,202,281 (GRCm39) R148L probably damaging Het
Mterf1a A G 5: 3,940,795 (GRCm39) S358P probably damaging Het
Myd88 T C 9: 119,166,556 (GRCm39) I253V possibly damaging Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nqo2 G T 13: 34,163,616 (GRCm39) V92L probably benign Het
Or4k2 T A 14: 50,424,069 (GRCm39) T202S possibly damaging Het
Pcdhb15 A T 18: 37,608,216 (GRCm39) N483Y probably damaging Het
Pds5a A G 5: 65,795,235 (GRCm39) F667S probably damaging Het
Plxnb1 C A 9: 108,929,828 (GRCm39) A228E probably damaging Het
Prpsap1 T C 11: 116,369,410 (GRCm39) S179G probably benign Het
Rtl4 C T X: 143,902,901 (GRCm39) Q108* probably null Het
Scn8a A G 15: 100,869,549 (GRCm39) probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc44a1 G A 4: 53,553,549 (GRCm39) V519I probably benign Het
Smg1 G C 7: 117,748,076 (GRCm39) probably benign Het
Sptlc2 A G 12: 87,393,582 (GRCm39) probably benign Het
St13 A T 15: 81,253,651 (GRCm39) probably benign Het
Strbp C G 2: 37,480,737 (GRCm39) R610T possibly damaging Het
Tas2r124 A T 6: 132,732,601 (GRCm39) R303S probably benign Het
Tex55 A C 16: 38,649,102 (GRCm39) D2E probably benign Het
Tgm3 G A 2: 129,889,692 (GRCm39) V629M possibly damaging Het
Tnr T C 1: 159,722,612 (GRCm39) V1019A probably benign Het
Ttn A T 2: 76,615,908 (GRCm39) C14932* probably null Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign 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
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
R5769:Jrk UTSW 15 74,577,917 (GRCm39) missense probably benign 0.19
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'- TTGTCTACCCAGGCATTACCCT -3'
(R):5'- GTTCTTCGCCAGCTCAGACTC -3'

Sequencing Primer
(F):5'- TACCCTGGGCCTTGTAAGCAATAG -3'
(R):5'- GGCCCTATGCTCATCGAAAAGG -3'
Posted On 2015-02-18