Incidental Mutation 'R7298:Rngtt'
ID 566789
Institutional Source Beutler Lab
Gene Symbol Rngtt
Ensembl Gene ENSMUSG00000028274
Gene Name RNA guanylyltransferase and 5'-phosphatase
Synonyms mouse capping enzyme
MMRRC Submission 045402-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R7298 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 33310311-33502614 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 33362927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 360 (L360F)
Ref Sequence ENSEMBL: ENSMUSP00000103788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029942] [ENSMUST00000108153]
AlphaFold O55236
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: L360F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029942
Gene: ENSMUSG00000028274
AA Change: L360F

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: L360F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103788
Gene: ENSMUSG00000028274
AA Change: L360F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A T 7: 119,807,106 (GRCm39) T51S probably benign Het
Abcc1 A G 16: 14,214,336 (GRCm39) D204G possibly damaging Het
Acaa1b C T 9: 118,980,915 (GRCm39) E172K probably benign Het
Adamts5 G A 16: 85,696,806 (GRCm39) T117I probably benign Het
Agmat A G 4: 141,474,275 (GRCm39) E52G possibly damaging Het
Alg9 C T 9: 50,690,361 (GRCm39) A121V probably damaging Het
Atf7ip2 T C 16: 10,027,032 (GRCm39) I100T possibly damaging Het
Calm2 T C 17: 87,750,165 (GRCm39) probably null Het
Cfap44 A T 16: 44,301,775 (GRCm39) M1838L probably benign Het
Cym A G 3: 107,127,009 (GRCm39) Y49H probably benign Het
Dchs1 G A 7: 105,404,338 (GRCm39) R2735* probably null Het
Dnajc6 T C 4: 101,463,808 (GRCm39) I187T probably benign Het
Fam151a G T 4: 106,592,725 (GRCm39) R69L possibly damaging Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 100,837,777 (GRCm39) probably benign Het
Gm9922 C A 14: 101,966,961 (GRCm39) G97V unknown Het
Hacl1 A T 14: 31,338,443 (GRCm39) M378K probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ighv1-82 A T 12: 115,916,574 (GRCm39) I6N possibly damaging Het
Kctd19 A C 8: 106,109,616 (GRCm39) V942G probably benign Het
Lce1l C T 3: 92,757,483 (GRCm39) C125Y unknown Het
Mmp8 T C 9: 7,560,449 (GRCm39) F42S probably damaging Het
Myom2 T C 8: 15,148,411 (GRCm39) L529P probably damaging Het
Nectin3 A T 16: 46,268,759 (GRCm39) Y548N probably damaging Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or4c12b T C 2: 89,646,865 (GRCm39) F59S probably damaging Het
Or6aa1 T A 7: 86,044,131 (GRCm39) T192S probably damaging Het
Otof T A 5: 30,545,614 (GRCm39) I514F probably damaging Het
Pira12 T A 7: 3,898,264 (GRCm39) I353F possibly damaging Het
Plch1 G T 3: 63,623,458 (GRCm39) S603* probably null Het
Ppa1 T A 10: 61,502,691 (GRCm39) D171E probably benign Het
Pramel23 C A 4: 143,425,075 (GRCm39) D123Y probably benign Het
Prss34 T C 17: 25,518,737 (GRCm39) C240R probably damaging Het
Ptpre A G 7: 135,285,016 (GRCm39) D714G probably damaging Het
Ranbp9 A G 13: 43,633,936 (GRCm39) F157L probably benign Het
Rbbp6 A G 7: 122,600,417 (GRCm39) K1475E unknown Het
Retnlg A G 16: 48,693,237 (GRCm39) N5D probably benign Het
Rev1 T C 1: 38,092,185 (GRCm39) T1245A probably damaging Het
Scrib A C 15: 75,936,610 (GRCm39) V447G probably damaging Het
Slc22a6 C A 19: 8,598,684 (GRCm39) A247E possibly damaging Het
Slc25a20 G A 9: 108,539,343 (GRCm39) probably benign Het
Spag16 T A 1: 69,958,585 (GRCm39) probably null Het
Stx3 C T 19: 11,767,412 (GRCm39) W87* probably null Het
Syngap1 T A 17: 27,181,961 (GRCm39) M1158K possibly damaging Het
Tmed9 C A 13: 55,741,107 (GRCm39) H41N possibly damaging Het
Trav15-2-dv6-2 G A 14: 53,887,242 (GRCm39) S54N probably benign Het
Tyk2 C T 9: 21,020,156 (GRCm39) V1001I probably benign Het
Ugt8a A G 3: 125,709,065 (GRCm39) V15A probably benign Het
Uhrf2 A G 19: 30,065,949 (GRCm39) E661G probably benign Het
Vmn2r77 T A 7: 86,449,979 (GRCm39) I75N probably benign Het
Zfp346 T G 13: 55,278,416 (GRCm39) V258G probably damaging Het
Zfp87 T A 13: 74,520,513 (GRCm39) K188N possibly damaging Het
Zgrf1 C A 3: 127,377,299 (GRCm39) S848* probably null Het
Other mutations in Rngtt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01865:Rngtt APN 4 33,325,157 (GRCm39) splice site probably benign
IGL01945:Rngtt APN 4 33,339,073 (GRCm39) missense probably damaging 1.00
IGL02104:Rngtt APN 4 33,320,517 (GRCm39) critical splice acceptor site probably null
IGL02505:Rngtt APN 4 33,337,936 (GRCm39) missense possibly damaging 0.75
IGL02679:Rngtt APN 4 33,356,098 (GRCm39) missense possibly damaging 0.65
IGL03309:Rngtt APN 4 33,339,091 (GRCm39) missense probably damaging 1.00
R0013:Rngtt UTSW 4 33,379,409 (GRCm39) missense probably benign 0.01
R0626:Rngtt UTSW 4 33,329,598 (GRCm39) splice site probably null
R0633:Rngtt UTSW 4 33,368,690 (GRCm39) missense probably damaging 1.00
R1645:Rngtt UTSW 4 33,362,939 (GRCm39) missense probably damaging 1.00
R1670:Rngtt UTSW 4 33,368,660 (GRCm39) missense probably benign
R1700:Rngtt UTSW 4 33,330,864 (GRCm39) missense probably damaging 1.00
R1754:Rngtt UTSW 4 33,329,634 (GRCm39) splice site probably null
R1809:Rngtt UTSW 4 33,443,614 (GRCm39) missense probably benign 0.04
R1929:Rngtt UTSW 4 33,500,302 (GRCm39) nonsense probably null
R2271:Rngtt UTSW 4 33,500,302 (GRCm39) nonsense probably null
R2844:Rngtt UTSW 4 33,368,678 (GRCm39) missense probably benign
R3773:Rngtt UTSW 4 33,330,889 (GRCm39) missense probably damaging 1.00
R4445:Rngtt UTSW 4 33,499,035 (GRCm39) missense probably benign
R4449:Rngtt UTSW 4 33,330,865 (GRCm39) missense probably damaging 1.00
R4510:Rngtt UTSW 4 33,339,032 (GRCm39) missense possibly damaging 0.88
R4511:Rngtt UTSW 4 33,339,032 (GRCm39) missense possibly damaging 0.88
R4578:Rngtt UTSW 4 33,339,050 (GRCm39) missense probably benign 0.30
R4610:Rngtt UTSW 4 33,339,133 (GRCm39) intron probably benign
R4712:Rngtt UTSW 4 33,379,394 (GRCm39) missense probably benign 0.00
R4888:Rngtt UTSW 4 33,500,335 (GRCm39) missense unknown
R4911:Rngtt UTSW 4 33,500,292 (GRCm39) splice site probably null
R5248:Rngtt UTSW 4 33,325,110 (GRCm39) nonsense probably null
R6429:Rngtt UTSW 4 33,320,606 (GRCm39) nonsense probably null
R6571:Rngtt UTSW 4 33,379,413 (GRCm39) missense probably damaging 1.00
R7260:Rngtt UTSW 4 33,356,176 (GRCm39) missense possibly damaging 0.52
R7379:Rngtt UTSW 4 33,498,981 (GRCm39) nonsense probably null
R8163:Rngtt UTSW 4 33,325,109 (GRCm39) missense probably damaging 1.00
R8717:Rngtt UTSW 4 33,368,695 (GRCm39) missense probably damaging 1.00
R9136:Rngtt UTSW 4 33,404,218 (GRCm39) missense probably damaging 1.00
R9324:Rngtt UTSW 4 33,320,613 (GRCm39) nonsense probably null
R9749:Rngtt UTSW 4 33,368,618 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- GTGTGTGCGCTTTGAAATCTAATC -3'
(R):5'- AGTGTGGTTTACGTAAATGACCTC -3'

Sequencing Primer
(F):5'- GTGCGCTTTGAAATCTAATCAAAAC -3'
(R):5'- AGGATGGCCTTAAACTCTGGACC -3'
Posted On 2019-06-26