Incidental Mutation 'IGL02836:Rtcb'
ID 361643
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtcb
Ensembl Gene ENSMUSG00000001783
Gene Name RNA 2',3'-cyclic phosphate and 5'-OH ligase
Synonyms HSPC117, D10Wsu52e
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL02836
Quality Score
Status
Chromosome 10
Chromosomal Location 85774501-85793657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85779806 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q99LF4
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: 144,349,782 (GRCm39) N346K possibly damaging Het
Abca15 A G 7: 119,987,439 (GRCm39) M1242V probably benign Het
Abca6 T A 11: 110,139,374 (GRCm39) E33D probably damaging Het
Abca8a T C 11: 109,961,177 (GRCm39) K582E possibly damaging Het
Abcb6 A G 1: 75,154,646 (GRCm39) L263P probably damaging Het
Adamts2 A C 11: 50,678,106 (GRCm39) E795A probably damaging Het
Avil T A 10: 126,844,864 (GRCm39) I292N probably damaging Het
Cd300ld2 T C 11: 114,904,576 (GRCm39) D97G probably benign Het
Cfh A C 1: 140,030,137 (GRCm39) I912R probably damaging Het
Cyp26c1 A T 19: 37,675,604 (GRCm39) Q156L probably benign Het
Dhx57 T C 17: 80,574,978 (GRCm39) I614V probably damaging Het
Dip2c T A 13: 9,660,826 (GRCm39) S896T probably damaging Het
Dmtn G T 14: 70,853,518 (GRCm39) P97Q probably damaging Het
Dock6 A T 9: 21,713,160 (GRCm39) V1931E probably damaging Het
Dpep2 C A 8: 106,717,227 (GRCm39) probably null Het
Dsg1c T A 18: 20,400,986 (GRCm39) L163Q probably benign Het
Esyt3 A G 9: 99,202,960 (GRCm39) probably benign Het
Fcgbp T A 7: 27,816,783 (GRCm39) I2415N possibly damaging Het
Fpr-rs6 T C 17: 20,403,307 (GRCm39) D18G probably benign Het
Fras1 T C 5: 96,682,725 (GRCm39) V74A possibly damaging Het
Frem3 T C 8: 81,341,010 (GRCm39) V1101A probably benign Het
Fut8 T A 12: 77,496,987 (GRCm39) V399E probably benign Het
Galntl5 G T 5: 25,391,237 (GRCm39) K45N probably benign Het
Gbe1 A G 16: 70,357,983 (GRCm39) Y669C possibly damaging Het
Gcnt1 T C 19: 17,307,493 (GRCm39) I77M probably benign Het
Itprid1 T A 6: 55,875,075 (GRCm39) W342R probably damaging Het
Mark2 A G 19: 7,255,405 (GRCm39) probably null Het
Muc2 A T 7: 141,300,450 (GRCm39) probably benign Het
Nacc2 C T 2: 25,980,329 (GRCm39) V36I probably damaging Het
Nphp1 T C 2: 127,611,543 (GRCm39) I268V probably benign Het
Oosp3 A G 19: 11,678,332 (GRCm39) I5V probably benign Het
Or9m1 T G 2: 87,733,724 (GRCm39) T99P possibly damaging Het
Pex7 A G 10: 19,769,990 (GRCm39) probably benign Het
Prr14l T C 5: 32,988,440 (GRCm39) K352E probably benign Het
Rheb T A 5: 25,008,709 (GRCm39) I170F probably benign Het
Rpgrip1 A G 14: 52,382,714 (GRCm39) probably null Het
Rps2 T A 17: 24,939,650 (GRCm39) L107Q probably damaging Het
Rrp1 A T 10: 78,240,874 (GRCm39) probably benign Het
Sec14l3 T C 11: 4,020,084 (GRCm39) F174L probably benign Het
Slc28a1 G A 7: 80,775,909 (GRCm39) V202M probably damaging Het
Slc44a3 A T 3: 121,325,366 (GRCm39) C32S probably damaging Het
Syne1 G A 10: 5,359,875 (GRCm39) probably benign Het
Synrg C A 11: 83,892,804 (GRCm39) probably benign Het
Tmem219 A T 7: 126,488,121 (GRCm39) F265I probably benign Het
Tmem94 T C 11: 115,683,765 (GRCm39) I726T probably damaging Het
Trim37 T C 11: 87,087,785 (GRCm39) M632T probably benign Het
Trpm6 A T 19: 18,790,846 (GRCm39) Q627L probably damaging Het
Uvrag A G 7: 98,628,984 (GRCm39) V361A possibly damaging Het
Yipf3 C A 17: 46,562,520 (GRCm39) N308K possibly damaging Het
Zfp438 A G 18: 5,245,427 (GRCm39) probably benign Het
Zmiz1 T A 14: 25,657,166 (GRCm39) probably benign Het
Zranb3 A G 1: 127,888,562 (GRCm39) V841A probably benign Het
Other mutations in Rtcb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01677:Rtcb APN 10 85,779,793 (GRCm39) missense probably damaging 1.00
R0023:Rtcb UTSW 10 85,785,315 (GRCm39) unclassified probably benign
R0023:Rtcb UTSW 10 85,785,315 (GRCm39) unclassified probably benign
R0046:Rtcb UTSW 10 85,793,520 (GRCm39) missense probably benign 0.05
R0046:Rtcb UTSW 10 85,793,520 (GRCm39) missense probably benign 0.05
R0589:Rtcb UTSW 10 85,787,315 (GRCm39) missense probably damaging 0.97
R1718:Rtcb UTSW 10 85,777,881 (GRCm39) missense probably damaging 1.00
R1792:Rtcb UTSW 10 85,778,446 (GRCm39) missense probably damaging 1.00
R2011:Rtcb UTSW 10 85,777,797 (GRCm39) missense probably damaging 1.00
R2371:Rtcb UTSW 10 85,779,697 (GRCm39) missense probably benign 0.00
R3786:Rtcb UTSW 10 85,778,458 (GRCm39) missense possibly damaging 0.82
R4272:Rtcb UTSW 10 85,793,483 (GRCm39) missense probably damaging 0.99
R4926:Rtcb UTSW 10 85,791,600 (GRCm39) missense probably benign 0.00
R6272:Rtcb UTSW 10 85,791,638 (GRCm39) missense probably damaging 0.98
R6485:Rtcb UTSW 10 85,793,508 (GRCm39) missense probably benign 0.05
R6711:Rtcb UTSW 10 85,774,963 (GRCm39) missense possibly damaging 0.72
R7487:Rtcb UTSW 10 85,789,333 (GRCm39) missense probably benign 0.02
R7748:Rtcb UTSW 10 85,777,832 (GRCm39) missense probably benign 0.00
R8405:Rtcb UTSW 10 85,793,534 (GRCm39) missense probably benign 0.00
R8422:Rtcb UTSW 10 85,779,168 (GRCm39) missense probably benign
R9254:Rtcb UTSW 10 85,779,071 (GRCm39) critical splice donor site probably null
R9259:Rtcb UTSW 10 85,774,925 (GRCm39) missense probably damaging 1.00
R9379:Rtcb UTSW 10 85,779,071 (GRCm39) critical splice donor site probably null
R9749:Rtcb UTSW 10 85,785,453 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18