Incidental Mutation 'R5907:Jtb'
ID 460688
Institutional Source Beutler Lab
Gene Symbol Jtb
Ensembl Gene ENSMUSG00000027937
Gene Name jumping translocation breakpoint
MMRRC Submission 044104-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5907 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 90231597-90235838 bp(+) (GRCm38)
Type of Mutation splice site (33 bp from exon)
DNA Base Change (assembly) T to G at 90235577 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113763 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029546] [ENSMUST00000029547] [ENSMUST00000107369] [ENSMUST00000119304]
AlphaFold O88824
Predicted Effect probably benign
Transcript: ENSMUST00000029546
SMART Domains Protein: ENSMUSP00000029546
Gene: ENSMUSG00000027937

signal peptide 1 30 N/A INTRINSIC
Pfam:JTB 37 143 5.6e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000029547
SMART Domains Protein: ENSMUSP00000029547
Gene: ENSMUSG00000027938

low complexity region 2 13 N/A INTRINSIC
low complexity region 76 86 N/A INTRINSIC
BRLZ 191 255 1.49e-13 SMART
low complexity region 275 291 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107369
SMART Domains Protein: ENSMUSP00000102992
Gene: ENSMUSG00000027938

low complexity region 2 13 N/A INTRINSIC
low complexity region 76 86 N/A INTRINSIC
BRLZ 191 255 1.49e-13 SMART
low complexity region 275 291 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000119304
SMART Domains Protein: ENSMUSP00000113763
Gene: ENSMUSG00000027937

low complexity region 2 16 N/A INTRINSIC
Pfam:JTB 30 95 1.2e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157045
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 93% (92/99)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik G T 17: 33,066,150 (GRCm38) D559E probably benign Het
4931429L15Rik A T 9: 46,306,822 (GRCm38) I206N probably damaging Het
Aadac T A 3: 60,039,827 (GRCm38) D315E probably damaging Het
Abcc8 A G 7: 46,123,906 (GRCm38) F800L probably benign Het
Adamts16 C A 13: 70,728,910 (GRCm38) C1204F probably damaging Het
Adcy7 A G 8: 88,312,228 (GRCm38) T291A possibly damaging Het
AI182371 G T 2: 35,086,122 (GRCm38) Q255K possibly damaging Het
Aig1 A T 10: 13,801,784 (GRCm38) probably benign Het
Ak5 T C 3: 152,615,952 (GRCm38) D266G probably damaging Het
Ank1 A T 8: 23,140,204 (GRCm38) E93D probably damaging Het
Bop1 T C 15: 76,455,917 (GRCm38) D153G probably damaging Het
Bub1 G T 2: 127,819,222 (GRCm38) N316K probably benign Het
Capn1 T C 19: 5,997,797 (GRCm38) N412S probably benign Het
Cdca4 A G 12: 112,821,719 (GRCm38) S130P probably benign Het
Cdh23 A T 10: 60,428,379 (GRCm38) D663E probably damaging Het
Clca3a1 T C 3: 144,749,642 (GRCm38) probably benign Het
Csmd2 C T 4: 128,197,385 (GRCm38) P239L probably damaging Het
Dlg2 A T 7: 91,997,371 (GRCm38) probably benign Het
Dnpep C T 1: 75,311,991 (GRCm38) probably null Het
Dopey2 A T 16: 93,801,581 (GRCm38) H1878L probably damaging Het
Dscam C T 16: 96,820,920 (GRCm38) D444N probably damaging Het
Emc9 C T 14: 55,582,112 (GRCm38) probably null Het
Ero1lb T A 13: 12,600,318 (GRCm38) I346N probably damaging Het
Etv3 A G 3: 87,535,543 (GRCm38) T145A probably benign Het
Fam170a T A 18: 50,282,254 (GRCm38) probably null Het
Fap A T 2: 62,544,356 (GRCm38) I261N probably damaging Het
Fbn2 T C 18: 58,045,337 (GRCm38) N1943S probably damaging Het
Glb1l3 A T 9: 26,826,383 (GRCm38) V466E probably damaging Het
Gm10521 A T 1: 171,896,503 (GRCm38) H127L unknown Het
Gm8186 G T 17: 26,099,156 (GRCm38) N22K probably damaging Het
Gpr132 A C 12: 112,852,097 (GRCm38) L370V probably benign Het
Hectd1 A T 12: 51,798,754 (GRCm38) H449Q probably damaging Het
Hook3 A G 8: 26,044,278 (GRCm38) probably benign Het
Ift140 A G 17: 25,092,371 (GRCm38) D1180G probably benign Het
Isoc2b A T 7: 4,849,578 (GRCm38) probably null Het
Itga4 C T 2: 79,322,656 (GRCm38) H896Y probably benign Het
Itga7 T C 10: 128,942,981 (GRCm38) Y326H probably damaging Het
Itpr3 A T 17: 27,117,893 (GRCm38) E2397V probably damaging Het
Klk15 A G 7: 43,938,759 (GRCm38) T164A probably benign Het
Kmt2e C A 5: 23,464,706 (GRCm38) H64N probably damaging Het
Lamtor3 T A 3: 137,927,293 (GRCm38) probably benign Het
Laptm4b A G 15: 34,258,684 (GRCm38) I35V possibly damaging Het
Lrrc1 A C 9: 77,434,097 (GRCm38) L393R probably damaging Het
Ltn1 A G 16: 87,381,503 (GRCm38) S1613P possibly damaging Het
Mtmr4 T A 11: 87,612,050 (GRCm38) W920R probably damaging Het
Nbeal1 T C 1: 60,228,791 (GRCm38) probably benign Het
Nup133 A G 8: 123,916,299 (GRCm38) Y761H possibly damaging Het
Nwd2 T A 5: 63,805,983 (GRCm38) V970D probably damaging Het
Olfr1058 A T 2: 86,385,874 (GRCm38) S181R probably damaging Het
Olfr1261 A G 2: 89,993,957 (GRCm38) H188R probably benign Het
Olfr429 T C 1: 174,089,219 (GRCm38) Y60H probably benign Het
Osbp C T 19: 11,973,876 (GRCm38) L262F probably damaging Het
Phldb2 G T 16: 45,825,188 (GRCm38) D343E probably damaging Het
Phrf1 T A 7: 141,260,540 (GRCm38) M1216K possibly damaging Het
Phyh A T 2: 4,930,651 (GRCm38) probably null Het
Plekhf1 A T 7: 38,222,170 (GRCm38) probably null Het
Rars T C 11: 35,828,648 (GRCm38) N116D probably damaging Het
Rnf44 T A 13: 54,682,808 (GRCm38) Q181L possibly damaging Het
Rpe65 T C 3: 159,615,682 (GRCm38) probably null Het
Scaf1 A G 7: 45,013,592 (GRCm38) probably benign Het
Serpinb11 A T 1: 107,372,189 (GRCm38) R88S probably benign Het
Slc7a7 T C 14: 54,379,103 (GRCm38) N174S probably damaging Het
Slc9a5 T C 8: 105,357,175 (GRCm38) probably null Het
Slfn1 C A 11: 83,121,176 (GRCm38) N39K possibly damaging Het
Snx20 G A 8: 88,627,295 (GRCm38) A269V possibly damaging Het
Snx6 A G 12: 54,754,319 (GRCm38) Y298H probably damaging Het
Stk32c C T 7: 139,120,674 (GRCm38) R213Q probably benign Het
Tgfbr1 A T 4: 47,396,555 (GRCm38) I190F probably damaging Het
Ube2d2b T A 5: 107,830,632 (GRCm38) F50I probably damaging Het
Ubl5 G A 9: 20,646,534 (GRCm38) probably benign Het
Ubqln5 T G 7: 104,128,574 (GRCm38) T348P possibly damaging Het
Usp46 T C 5: 74,037,085 (GRCm38) D22G probably benign Het
Vars A G 17: 35,012,376 (GRCm38) N655S probably damaging Het
Vmn2r103 A C 17: 19,812,453 (GRCm38) I830L possibly damaging Het
Vmn2r26 T A 6: 124,039,871 (GRCm38) N431K probably benign Het
Vmn2r4 G T 3: 64,391,066 (GRCm38) P547Q probably damaging Het
Yy1 T A 12: 108,806,428 (GRCm38) probably benign Het
Zbtb2 A T 10: 4,368,592 (GRCm38) L478Q possibly damaging Het
Zfp12 T C 5: 143,239,988 (GRCm38) F17S probably damaging Het
Zfp219 T A 14: 52,007,149 (GRCm38) probably null Het
Zfp629 G A 7: 127,610,370 (GRCm38) H756Y probably damaging Het
Zfp748 T C 13: 67,541,173 (GRCm38) K656R possibly damaging Het
Zfp958 T A 8: 4,629,072 (GRCm38) Y366N probably benign Het
Zp3 C T 5: 135,988,523 (GRCm38) T396I probably benign Het
Other mutations in Jtb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2905:Jtb UTSW 3 90,232,492 (GRCm38) missense probably damaging 1.00
R5103:Jtb UTSW 3 90,232,087 (GRCm38) intron probably benign
R5812:Jtb UTSW 3 90,233,977 (GRCm38) missense probably benign 0.01
R6496:Jtb UTSW 3 90,233,957 (GRCm38) missense possibly damaging 0.94
R8002:Jtb UTSW 3 90,233,944 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-02-28