Incidental Mutation 'R2271:Rngtt'
ID 242456
Institutional Source Beutler Lab
Gene Symbol Rngtt
Ensembl Gene ENSMUSG00000028274
Gene Name RNA guanylyltransferase and 5'-phosphatase
Synonyms mouse capping enzyme
MMRRC Submission 040271-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R2271 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 33310311-33502614 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 33500302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 565 (C565*)
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: V545E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029942
Gene: ENSMUSG00000028274
AA Change: V545E

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 null
Transcript: ENSMUST00000108153
AA Change: C565*
SMART Domains Protein: ENSMUSP00000103788
Gene: ENSMUSG00000028274
AA Change: C565*

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
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T A 10: 28,857,575 (GRCm39) Q194L probably damaging Het
Acsf2 T A 11: 94,449,699 (GRCm39) K574* probably null Het
Adam22 T C 5: 8,171,108 (GRCm39) E614G probably damaging Het
Ap4e1 T C 2: 126,889,083 (GRCm39) probably null Het
Arid3c T A 4: 41,724,744 (GRCm39) I364F probably damaging Het
Bcan T A 3: 87,900,401 (GRCm39) S611C probably damaging Het
Birc6 T C 17: 74,909,966 (GRCm39) V1453A probably benign Het
Carnmt1 T C 19: 18,680,734 (GRCm39) L336P probably damaging Het
Ccdc146 C A 5: 21,604,719 (GRCm39) D40Y probably benign Het
Ccdc83 C T 7: 89,873,285 (GRCm39) V357I probably damaging Het
Cdh22 A T 2: 164,985,767 (GRCm39) probably null Het
Cdk5rap2 A C 4: 70,184,915 (GRCm39) S1178R probably benign Het
Cdkl3 T C 11: 51,923,322 (GRCm39) V45A probably benign Het
Chd7 A G 4: 8,785,532 (GRCm39) D612G probably damaging Het
Chst11 T C 10: 83,027,004 (GRCm39) Y144H probably damaging Het
Cops6 A T 5: 138,159,403 (GRCm39) N10I probably benign Het
Cyfip1 G T 7: 55,549,705 (GRCm39) R624L probably null Het
Cyp27a1 A G 1: 74,775,846 (GRCm39) N344D probably damaging Het
Des T G 1: 75,340,137 (GRCm39) M348R probably damaging Het
Dis3l T A 9: 64,238,165 (GRCm39) D109V probably damaging Het
Disp3 C T 4: 148,356,059 (GRCm39) R267Q possibly damaging Het
Dnah3 T A 7: 119,574,352 (GRCm39) I2136F probably benign Het
Dnah9 T C 11: 66,003,188 (GRCm39) D872G probably benign Het
Dnajb14 G A 3: 137,591,141 (GRCm39) G31S probably benign Het
Dop1a T G 9: 86,376,471 (GRCm39) V235G probably damaging Het
Efcab6 T A 15: 83,831,200 (GRCm39) R571S probably benign Het
Emsy T G 7: 98,275,830 (GRCm39) K352N probably damaging Het
Erbb4 T C 1: 68,238,047 (GRCm39) N814S probably damaging Het
Fgfbp1 T A 5: 44,136,672 (GRCm39) M207L probably benign Het
Filip1 T C 9: 79,727,212 (GRCm39) E469G probably damaging Het
Garem2 T G 5: 30,321,972 (GRCm39) L777R probably damaging Het
Garin5b T A 7: 4,761,186 (GRCm39) T509S probably benign Het
Hkdc1 T C 10: 62,253,677 (GRCm39) T35A probably benign Het
Hps6 C T 19: 45,994,121 (GRCm39) A686V possibly damaging Het
Irs1 T C 1: 82,266,180 (GRCm39) S679G probably benign Het
Ism1 T A 2: 139,599,293 (GRCm39) I415N probably damaging Het
Kdm1b TCATTGTCC TCATTGTCCATTGTCC 13: 47,217,564 (GRCm39) probably null Het
Kpna1 G A 16: 35,851,591 (GRCm39) A392T probably damaging Het
Lipa T A 19: 34,488,290 (GRCm39) R119* probably null Het
Lrrc37 T C 11: 103,505,033 (GRCm39) T2312A possibly damaging Het
Mocs1 A T 17: 49,756,137 (GRCm39) K198M probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msh5 A G 17: 35,263,366 (GRCm39) I154T probably benign Het
Muc6 T A 7: 141,217,423 (GRCm39) T2417S possibly damaging Het
Ncbp2 T C 16: 31,775,769 (GRCm39) Y138H probably damaging Het
Ndufv1 C A 19: 4,058,347 (GRCm39) R359L probably benign Het
Neu3 G C 7: 99,462,650 (GRCm39) R358G probably benign Het
Ntrk3 A C 7: 78,166,471 (GRCm39) probably null Het
Or1n1 G A 2: 36,749,637 (GRCm39) S241F probably damaging Het
Or8b12i T A 9: 20,082,705 (GRCm39) H54L possibly damaging Het
Or8j3 A G 2: 86,028,161 (GRCm39) F312L probably benign Het
Pik3c2b T C 1: 133,031,166 (GRCm39) S1491P probably benign Het
Plb1 G T 5: 32,450,586 (GRCm39) D376Y probably damaging Het
Plch1 T A 3: 63,651,956 (GRCm39) K378N probably damaging Het
Plekhm1 C T 11: 103,277,948 (GRCm39) E383K probably benign Het
Plxnb1 T C 9: 108,931,776 (GRCm39) probably null Het
Prkdc A G 16: 15,472,681 (GRCm39) probably null Het
Prpf8 T A 11: 75,386,189 (GRCm39) V946E probably damaging Het
Psma5-ps A G 10: 85,149,595 (GRCm39) noncoding transcript Het
Ptprh C A 7: 4,606,132 (GRCm39) probably benign Het
Sacs A G 14: 61,442,109 (GRCm39) H1385R probably benign Het
Sec24a A G 11: 51,607,277 (GRCm39) S656P possibly damaging Het
Serpinb13 A T 1: 106,926,756 (GRCm39) I251L possibly damaging Het
Shc1 G A 3: 89,330,849 (GRCm39) G91S probably damaging Het
Sin3b T A 8: 73,460,047 (GRCm39) N211K probably benign Het
Slc22a2 A T 17: 12,805,692 (GRCm39) M148L probably benign Het
Slc3a1 G A 17: 85,371,220 (GRCm39) V591I probably benign Het
Slc47a2 A T 11: 61,219,352 (GRCm39) probably null Het
Spag17 C T 3: 100,014,113 (GRCm39) P2129S probably damaging Het
Specc1l C T 10: 75,081,438 (GRCm39) S278F probably damaging Het
Sphkap T A 1: 83,234,942 (GRCm39) D1628V probably damaging Het
Themis3 C T 17: 66,862,699 (GRCm39) V420I possibly damaging Het
Ttc39d A G 17: 80,524,675 (GRCm39) K445E probably damaging Het
U2surp T C 9: 95,373,473 (GRCm39) E232G possibly damaging Het
Usp25 T A 16: 76,873,317 (GRCm39) F458L probably damaging Het
Usp7 T C 16: 8,516,333 (GRCm39) S649G probably benign Het
Vmn1r10 A G 6: 57,091,088 (GRCm39) T227A probably damaging Het
Zcchc12 C T X: 35,462,118 (GRCm39) T345M possibly damaging Het
Zfp444 T C 7: 6,192,554 (GRCm39) C191R probably damaging Het
Zfp729b A T 13: 67,740,352 (GRCm39) C648S probably damaging Het
Zfp799 A G 17: 33,040,777 (GRCm39) Y58H probably damaging Het
Zfp938 C T 10: 82,061,381 (GRCm39) G413D probably damaging 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
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
R7298:Rngtt UTSW 4 33,362,927 (GRCm39) missense probably damaging 1.00
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'- AAACAGTACCTGAGGCCTGC -3'
(R):5'- TGTCTTCCCTTAAAACACGTGTACC -3'

Sequencing Primer
(F):5'- GCTTGCCCATCATGAAATGC -3'
(R):5'- TGTACCAGTACGAAGCCGCTC -3'
Posted On 2014-10-16