Incidental Mutation 'R0023:Rtcb'
ID18699
Institutional Source Beutler Lab
Gene Symbol Rtcb
Ensembl Gene ENSMUSG00000001783
Gene NameRNA 2',3'-cyclic phosphate and 5'-OH ligase
SynonymsHSPC117, D10Wsu52e
MMRRC Submission 038318-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.970) question?
Stock #R0023 (G1)
Quality Score
Status Validated
Chromosome10
Chromosomal Location85938637-85957823 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 85949451 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000001834]
Predicted Effect probably benign
Transcript: ENSMUST00000001834
SMART Domains Protein: ENSMUSP00000001834
Gene: ENSMUSG00000001783

DomainStartEndE-ValueType
Pfam:RtcB 61 505 3.3e-143 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139413
Predicted Effect probably benign
Transcript: ENSMUST00000156605
Coding Region Coverage
  • 1x: 78.2%
  • 3x: 67.5%
  • 10x: 40.9%
  • 20x: 21.9%
Validation Efficiency 89% (77/87)
MGI Phenotype PHENOTYPE: Mice lacking expression in B cells show impaired immunoglobin secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik A C 4: 144,528,997 D329A probably damaging Het
9530053A07Rik A G 7: 28,153,412 K1375E probably benign Het
Abcc12 T A 8: 86,538,333 H661L probably damaging Het
Acsbg2 C G 17: 56,847,710 A481P probably damaging Het
Aknad1 T A 3: 108,781,185 C610S probably benign Het
Anapc1 T A 2: 128,678,218 K226N probably damaging Het
Aqp11 A T 7: 97,726,689 I251N possibly damaging Het
Arid1a G T 4: 133,691,176 T1032K unknown Het
Atg16l1 T C 1: 87,789,465 V538A probably benign Het
Atp7b A T 8: 22,011,073 L938Q probably damaging Het
Bbs1 C T 19: 4,906,014 A44T probably damaging Het
Btbd9 A T 17: 30,530,214 V42E probably damaging Het
Carmil3 C G 14: 55,492,876 S15R probably damaging Het
Cfap44 T A 16: 44,421,220 F651L probably benign Het
Clcn3 A T 8: 60,933,070 probably benign Het
Copb1 A T 7: 114,250,094 D91E probably benign Het
Ctr9 G A 7: 111,043,947 A509T possibly damaging Het
Dst C T 1: 34,189,119 P1606L probably damaging Het
Emc1 A G 4: 139,371,009 D767G probably damaging Het
Fads1 G A 19: 10,186,897 probably benign Het
Frrs1 T C 3: 116,896,788 F27L probably damaging Het
Itga2 G A 13: 114,870,496 S432L possibly damaging Het
Lrig3 A C 10: 126,010,219 D839A probably damaging Het
Macf1 A T 4: 123,488,314 probably benign Het
Myo6 T C 9: 80,283,534 V789A possibly damaging Het
Nasp A G 4: 116,605,771 probably benign Het
Nsmaf A G 4: 6,408,680 Y700H probably damaging Het
Plekhs1 T G 19: 56,478,516 S260A probably damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
R3hdm1 T C 1: 128,211,192 probably benign Het
Suco A T 1: 161,845,585 probably null Het
Synrg G T 11: 84,008,653 D562Y probably damaging Het
Tfip11 T C 5: 112,332,009 S265P possibly damaging Het
Ucp3 G T 7: 100,485,043 V288L probably benign Het
Xylt1 G T 7: 117,634,701 G485V probably damaging Het
Yars A G 4: 129,197,188 T130A probably benign Het
Zfp652 A T 11: 95,753,469 R205* probably null Het
Other mutations in Rtcb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01677:Rtcb APN 10 85943929 missense probably damaging 1.00
IGL02836:Rtcb APN 10 85943942 missense possibly damaging 0.90
R0023:Rtcb UTSW 10 85949451 unclassified probably benign
R0046:Rtcb UTSW 10 85957656 missense probably benign 0.05
R0046:Rtcb UTSW 10 85957656 missense probably benign 0.05
R0589:Rtcb UTSW 10 85951451 missense probably damaging 0.97
R1718:Rtcb UTSW 10 85942017 missense probably damaging 1.00
R1792:Rtcb UTSW 10 85942582 missense probably damaging 1.00
R2011:Rtcb UTSW 10 85941933 missense probably damaging 1.00
R2371:Rtcb UTSW 10 85943833 missense probably benign 0.00
R3786:Rtcb UTSW 10 85942594 missense possibly damaging 0.82
R4272:Rtcb UTSW 10 85957619 missense probably damaging 0.99
R4926:Rtcb UTSW 10 85955736 missense probably benign 0.00
R6272:Rtcb UTSW 10 85955774 missense probably damaging 0.98
R6485:Rtcb UTSW 10 85957644 missense probably benign 0.05
R6711:Rtcb UTSW 10 85939099 missense possibly damaging 0.72
R7487:Rtcb UTSW 10 85953469 missense probably benign 0.02
R7748:Rtcb UTSW 10 85941968 missense probably benign 0.00
Posted On2013-03-25