Incidental Mutation 'IGL02836:Rtcb'
ID361643
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtcb
Ensembl Gene ENSMUSG00000001783
Gene NameRNA 2',3'-cyclic phosphate and 5'-OH ligase
SynonymsHSPC117, D10Wsu52e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.968) question?
Stock #IGL02836
Quality Score
Status
Chromosome10
Chromosomal Location85938637-85957823 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 85943942 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 288 (V288D)
Ref Sequence ENSEMBL: ENSMUSP00000001834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001834]
Predicted Effect possibly damaging
Transcript: ENSMUST00000001834
AA Change: V288D

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001834
Gene: ENSMUSG00000001783
AA Change: V288D

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
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T A 4: 144,623,212 N346K possibly damaging Het
Abca15 A G 7: 120,388,216 M1242V probably benign Het
Abca6 T A 11: 110,248,548 E33D probably damaging Het
Abca8a T C 11: 110,070,351 K582E possibly damaging Het
Abcb6 A G 1: 75,178,002 L263P probably damaging Het
Adamts2 A C 11: 50,787,279 E795A probably damaging Het
Avil T A 10: 127,008,995 I292N probably damaging Het
Ccdc129 T A 6: 55,898,090 W342R probably damaging Het
Cd300ld2 T C 11: 115,013,750 D97G probably benign Het
Cfh A C 1: 140,102,399 I912R probably damaging Het
Cyp26c1 A T 19: 37,687,156 Q156L probably benign Het
Dhx57 T C 17: 80,267,549 I614V probably damaging Het
Dip2c T A 13: 9,610,790 S896T probably damaging Het
Dmtn G T 14: 70,616,078 P97Q probably damaging Het
Dock6 A T 9: 21,801,864 V1931E probably damaging Het
Dpep2 C A 8: 105,990,595 probably null Het
Dsg1c T A 18: 20,267,929 L163Q probably benign Het
Esyt3 A G 9: 99,320,907 probably benign Het
Fcgbp T A 7: 28,117,358 I2415N possibly damaging Het
Fpr-rs6 T C 17: 20,183,045 D18G probably benign Het
Fras1 T C 5: 96,534,866 V74A possibly damaging Het
Frem3 T C 8: 80,614,381 V1101A probably benign Het
Fut8 T A 12: 77,450,213 V399E probably benign Het
Galntl5 G T 5: 25,186,239 K45N probably benign Het
Gbe1 A G 16: 70,561,095 Y669C possibly damaging Het
Gcnt1 T C 19: 17,330,129 I77M probably benign Het
Mark2 A G 19: 7,278,040 probably null Het
Muc2 A T 7: 141,746,713 probably benign Het
Nacc2 C T 2: 26,090,317 V36I probably damaging Het
Nphp1 T C 2: 127,769,623 I268V probably benign Het
Olfr1154 T G 2: 87,903,380 T99P possibly damaging Het
Oosp3 A G 19: 11,700,968 I5V probably benign Het
Pex7 A G 10: 19,894,244 probably benign Het
Prr14l T C 5: 32,831,096 K352E probably benign Het
Rheb T A 5: 24,803,711 I170F probably benign Het
Rpgrip1 A G 14: 52,145,257 probably null Het
Rps2 T A 17: 24,720,676 L107Q probably damaging Het
Rrp1 A T 10: 78,405,040 probably benign Het
Sec14l3 T C 11: 4,070,084 F174L probably benign Het
Slc28a1 G A 7: 81,126,161 V202M probably damaging Het
Slc44a3 A T 3: 121,531,717 C32S probably damaging Het
Syne1 G A 10: 5,409,875 probably benign Het
Synrg C A 11: 84,001,978 probably benign Het
Tmem219 A T 7: 126,888,949 F265I probably benign Het
Tmem94 T C 11: 115,792,939 I726T probably damaging Het
Trim37 T C 11: 87,196,959 M632T probably benign Het
Trpm6 A T 19: 18,813,482 Q627L probably damaging Het
Uvrag A G 7: 98,979,777 V361A possibly damaging Het
Yipf3 C A 17: 46,251,594 N308K possibly damaging Het
Zfp438 A G 18: 5,245,427 probably benign Het
Zmiz1 T A 14: 25,656,742 probably benign Het
Zranb3 A G 1: 127,960,825 V841A probably benign Het
Other mutations in Rtcb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01677:Rtcb APN 10 85943929 missense probably damaging 1.00
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
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 On2015-12-18