Incidental Mutation 'R0589:Rtcb'
ID55881
Institutional Source Beutler Lab
Gene Symbol Rtcb
Ensembl Gene ENSMUSG00000001783
Gene NameRNA 2',3'-cyclic phosphate and 5'-OH ligase
SynonymsHSPC117, D10Wsu52e
MMRRC Submission 038779-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.967) question?
Stock #R0589 (G1)
Quality Score214
Status Validated
Chromosome10
Chromosomal Location85938637-85957823 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 85951451 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 82 (S82A)
Ref Sequence ENSEMBL: ENSMUSP00000001834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001834]
Predicted Effect probably damaging
Transcript: ENSMUST00000001834
AA Change: S82A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000001834
Gene: ENSMUSG00000001783
AA Change: S82A

DomainStartEndE-ValueType
Pfam:RtcB 61 505 3.3e-143 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218274
Meta Mutation Damage Score 0.3270 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.1%
Validation Efficiency 98% (62/63)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,942,268 A1202E probably damaging Het
Abcc12 A T 8: 86,560,472 I155N possibly damaging Het
Atf4 T A 15: 80,256,439 H47Q probably damaging Het
Atm T A 9: 53,490,192 D1459V possibly damaging Het
Bicral A G 17: 46,801,596 S893P probably benign Het
Camk2a G A 18: 60,963,964 probably null Het
Cebpz G A 17: 78,936,879 T51I probably damaging Het
Cers5 A T 15: 99,740,956 D208E probably damaging Het
Cyp1a2 T C 9: 57,679,062 D391G possibly damaging Het
Dct G T 14: 118,043,270 F111L probably benign Het
Ddb1 T G 19: 10,621,716 I529S probably benign Het
Dhx9 G T 1: 153,472,291 Q361K probably damaging Het
Erbin G T 13: 103,886,287 R15S probably damaging Het
F13b T C 1: 139,506,933 S146P possibly damaging Het
Fam166b T C 4: 43,427,355 probably benign Het
Fam208a T C 14: 27,461,150 I522T probably benign Het
Ggnbp2 A T 11: 84,836,451 C520S probably damaging Het
Gpx3 A G 11: 54,909,503 I208V probably benign Het
Grk3 A G 5: 112,928,763 probably benign Het
Heatr9 T C 11: 83,514,690 probably benign Het
Heg1 T G 16: 33,731,707 I762R probably damaging Het
Ints11 A T 4: 155,886,886 T264S probably damaging Het
Ints14 T C 9: 64,979,831 L348P probably damaging Het
Marf1 C A 16: 14,142,055 probably benign Het
Med13 A G 11: 86,283,249 Y1808H probably damaging Het
Mef2a G T 7: 67,235,148 S406* probably null Het
Mrpl45 A T 11: 97,323,888 T134S probably benign Het
Myh8 A G 11: 67,298,627 I1210V probably benign Het
Nsd3 T C 8: 25,641,287 S223P probably damaging Het
Olfr1105 A T 2: 87,034,115 Y35* probably null Het
Olfr1220 A G 2: 89,097,262 F222L probably benign Het
Olfr531 T G 7: 140,400,900 S49R possibly damaging Het
P3h3 T A 6: 124,841,681 E731D probably damaging Het
Pcdhac2 A G 18: 37,146,474 R836G probably benign Het
Pdzd2 A G 15: 12,376,299 V1250A probably benign Het
Pgbd1 G A 13: 21,434,430 T19I possibly damaging Het
Phtf2 T A 5: 20,813,251 R31* probably null Het
Plod2 T A 9: 92,593,746 V294D probably benign Het
Rassf5 C T 1: 131,244,983 G50R probably damaging Het
Rexo5 A G 7: 119,845,383 T694A probably benign Het
Rufy4 T C 1: 74,132,883 L255P probably damaging Het
Slc35c1 A G 2: 92,454,514 F252L probably damaging Het
Slco6d1 A T 1: 98,499,747 probably benign Het
Sox10 T G 15: 79,163,285 probably benign Het
Stard9 A G 2: 120,698,547 M1762V probably benign Het
Stat3 A T 11: 100,908,083 Y94N probably damaging Het
Tecta T A 9: 42,345,634 Y1582F probably benign Het
Tex44 A G 1: 86,427,731 D454G probably damaging Het
Tle6 A G 10: 81,595,419 probably benign Het
Tmem57 C A 4: 134,828,217 C315F probably benign Het
Tmod2 T C 9: 75,576,759 E303G probably damaging Het
Trem1 A G 17: 48,237,217 D90G possibly damaging Het
Trhde A T 10: 114,448,324 D751E probably benign Het
Ttn A T 2: 76,965,245 probably null Het
Vars2 T C 17: 35,659,176 T774A probably benign Het
Wdr63 A G 3: 146,062,331 S592P probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGCTGACATCTGACAAAAGTCTCC -3'
(R):5'- TATGCAAACAGGACCCACTGCTCTC -3'

Sequencing Primer
(F):5'- GGTTTGACTGATATTTTAACAGCCC -3'
(R):5'- TTACCACAGGTCCTTGACAAGTG -3'
Posted On2013-07-11