Incidental Mutation 'IGL03309:Rngtt'
ID416496
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rngtt
Ensembl Gene ENSMUSG00000028274
Gene NameRNA guanylyltransferase and 5'-phosphatase
Synonymsmouse capping enzyme
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.970) question?
Stock #IGL03309
Quality Score
Status
Chromosome4
Chromosomal Location33310311-33502614 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 33339091 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 299 (R299S)
Ref Sequence ENSEMBL: ENSMUSP00000103788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029942] [ENSMUST00000108153]
PDB Structure
CRYSTAL STRUCTURE OF THE RNA TRIPHOSPHATASE DOMAIN OF MOUSE MRNA CAPPING ENZYME [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE OXIDIZED RNA TRIPHOSPHATASE DOMAIN OF MOUSE MRNA CAPPING ENZYME [X-RAY DIFFRACTION]
Crystal structure of mammalian capping enzyme (Mce1) and Pol II CTD complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000029942
AA Change: R299S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029942
Gene: ENSMUSG00000028274
AA Change: R299S

DomainStartEndE-ValueType
Pfam:DSPc 46 179 4.7e-12 PFAM
low complexity region 195 205 N/A INTRINSIC
Pfam:mRNA_cap_enzyme 272 460 1.8e-73 PFAM
Pfam:mRNA_cap_C 463 550 3.7e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108153
AA Change: R299S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103788
Gene: ENSMUSG00000028274
AA Change: R299S

DomainStartEndE-ValueType
Pfam:DSPc 47 179 2.2e-13 PFAM
low complexity region 195 205 N/A INTRINSIC
Pfam:mRNA_cap_enzyme 272 460 2e-80 PFAM
Pfam:mRNA_cap_C 464 559 1.9e-22 PFAM
low complexity region 577 590 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146870
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155397
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 60,039,882 T334A possibly damaging Het
Armc9 A G 1: 86,274,433 E771G possibly damaging Het
Cd207 G T 6: 83,677,753 T16K possibly damaging Het
Cd44 C T 2: 102,814,177 E421K probably damaging Het
Cfap221 A G 1: 119,934,601 Y584H probably damaging Het
Clock A G 5: 76,231,394 probably null Het
Clpx T G 9: 65,322,692 L474R probably damaging Het
Cntd1 T C 11: 101,284,764 V143A probably damaging Het
Cttnbp2 A G 6: 18,381,036 V877A probably damaging Het
Dlx6 G T 6: 6,867,289 M158I possibly damaging Het
Fank1 A G 7: 133,862,173 T33A probably damaging Het
Fbf1 A G 11: 116,147,811 L828P probably damaging Het
Fh1 A T 1: 175,604,043 S426T probably benign Het
Gabrg3 G T 7: 56,982,685 Q172K probably damaging Het
Glipr1l1 A G 10: 112,072,236 probably benign Het
Hypk T A 2: 121,458,192 L113* probably null Het
Hypk G T 2: 121,458,193 L113F probably damaging Het
Ipo5 G A 14: 120,920,004 V85I probably benign Het
Kif1a A T 1: 93,058,857 Y575* probably null Het
Morf4l1 T A 9: 90,103,745 E60V probably benign Het
Olfr655 A G 7: 104,597,041 F47L probably benign Het
Olfr782 A T 10: 129,351,309 T249S probably benign Het
Parp4 A T 14: 56,587,808 T130S probably benign Het
Prkd1 A G 12: 50,388,424 Y507H probably damaging Het
Psme2b A C 11: 48,945,799 probably null Het
Rbm44 T C 1: 91,168,840 probably null Het
Ros1 A G 10: 52,118,261 S1308P possibly damaging Het
Rpl3l A G 17: 24,736,024 K398E possibly damaging Het
Scube3 C T 17: 28,164,357 R374* probably null Het
Srcap A G 7: 127,530,793 T616A probably damaging Het
Stk3 G A 15: 35,099,551 probably benign Het
Tas2r124 A T 6: 132,754,935 D69V probably benign Het
Zbtb41 T A 1: 139,432,078 probably null Het
Other mutations in Rngtt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01865:Rngtt APN 4 33325157 splice site probably benign
IGL01945:Rngtt APN 4 33339073 missense probably damaging 1.00
IGL02104:Rngtt APN 4 33320517 critical splice acceptor site probably null
IGL02505:Rngtt APN 4 33337936 missense possibly damaging 0.75
IGL02679:Rngtt APN 4 33356098 missense possibly damaging 0.65
R0013:Rngtt UTSW 4 33379409 missense probably benign 0.01
R0626:Rngtt UTSW 4 33329598 splice site probably null
R0633:Rngtt UTSW 4 33368690 missense probably damaging 1.00
R1645:Rngtt UTSW 4 33362939 missense probably damaging 1.00
R1670:Rngtt UTSW 4 33368660 missense probably benign
R1700:Rngtt UTSW 4 33330864 missense probably damaging 1.00
R1754:Rngtt UTSW 4 33329634 splice site probably null
R1809:Rngtt UTSW 4 33443614 missense probably benign 0.04
R1929:Rngtt UTSW 4 33500302 nonsense probably null
R2271:Rngtt UTSW 4 33500302 nonsense probably null
R2844:Rngtt UTSW 4 33368678 missense probably benign
R3773:Rngtt UTSW 4 33330889 missense probably damaging 1.00
R4445:Rngtt UTSW 4 33499035 missense probably benign
R4449:Rngtt UTSW 4 33330865 missense probably damaging 1.00
R4510:Rngtt UTSW 4 33339032 missense possibly damaging 0.88
R4511:Rngtt UTSW 4 33339032 missense possibly damaging 0.88
R4578:Rngtt UTSW 4 33339050 missense probably benign 0.30
R4610:Rngtt UTSW 4 33339133 intron probably benign
R4712:Rngtt UTSW 4 33379394 missense probably benign 0.00
R4888:Rngtt UTSW 4 33500335 missense unknown
R4911:Rngtt UTSW 4 33500292 splice site probably null
R5248:Rngtt UTSW 4 33325110 nonsense probably null
R6429:Rngtt UTSW 4 33320606 nonsense probably null
R6571:Rngtt UTSW 4 33379413 missense probably damaging 1.00
R7260:Rngtt UTSW 4 33356176 missense possibly damaging 0.52
R7298:Rngtt UTSW 4 33362927 missense probably damaging 1.00
R7379:Rngtt UTSW 4 33498981 nonsense probably null
R8163:Rngtt UTSW 4 33325109 missense probably damaging 1.00
Posted On2016-08-02