Incidental Mutation 'R6293:Nudt21'
ID 508557
Institutional Source Beutler Lab
Gene Symbol Nudt21
Ensembl Gene ENSMUSG00000031754
Gene Name nudix hydrolase 21
Synonyms Cpsf5, 3110048P04Rik, nudix (nucleoside diphosphate linked moiety X)-type motif 21, 5730530J16Rik, 25kDa
MMRRC Submission 044462-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6293 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 94746031-94763667 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94755506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 134 (D134G)
Ref Sequence ENSEMBL: ENSMUSP00000148597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034204] [ENSMUST00000212622] [ENSMUST00000212911] [ENSMUST00000212981]
AlphaFold Q9CQF3
Predicted Effect probably damaging
Transcript: ENSMUST00000034204
AA Change: D143G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034204
Gene: ENSMUSG00000031754
AA Change: D143G

DomainStartEndE-ValueType
Pfam:NUDIX_2 35 222 9.9e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212622
AA Change: D82G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000212911
AA Change: D17G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212981
AA Change: D134G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.4%
Validation Efficiency 98% (54/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,935,395 (GRCm39) D323G probably damaging Het
Abcb1b T C 5: 8,903,493 (GRCm39) I1048T probably benign Het
Adgra3 G A 5: 50,118,189 (GRCm39) P1120S probably benign Het
Alkbh8 G T 9: 3,347,841 (GRCm39) L211F possibly damaging Het
Ankrd27 T C 7: 35,307,885 (GRCm39) S375P possibly damaging Het
Apoc1 T A 7: 19,425,817 (GRCm39) T68S probably damaging Het
Arfgef2 T A 2: 166,715,508 (GRCm39) Y1318N possibly damaging Het
Camsap2 C A 1: 136,215,658 (GRCm39) R345L probably damaging Het
Ccdc38 C T 10: 93,398,659 (GRCm39) Q46* probably null Het
Cdk12 T A 11: 98,115,379 (GRCm39) M840K unknown Het
Cfap251 A C 5: 123,460,511 (GRCm39) N1158H probably damaging Het
Col12a1 A T 9: 79,521,640 (GRCm39) N2772K probably benign Het
Dthd1 A G 5: 63,000,193 (GRCm39) D505G probably damaging Het
Elf1 C T 14: 79,798,226 (GRCm39) H38Y probably damaging Het
Gcnt2 T A 13: 41,072,173 (GRCm39) V272D probably damaging Het
Gm9964 T A 11: 79,187,420 (GRCm39) K9M unknown Het
Gpr155 A G 2: 73,204,341 (GRCm39) S158P possibly damaging Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Hmcn2 T C 2: 31,225,463 (GRCm39) I124T probably damaging Het
Hydin A G 8: 111,324,543 (GRCm39) S4635G possibly damaging Het
Lrch2 C T X: 146,263,553 (GRCm39) A369T probably damaging Homo
Lrrc8c A G 5: 105,754,612 (GRCm39) Y129C probably damaging Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mcm3ap C G 10: 76,307,312 (GRCm39) Y418* probably null Het
Mpdz A G 4: 81,278,293 (GRCm39) L764P probably damaging Het
Myt1l A G 12: 29,877,627 (GRCm39) D426G unknown Het
Ndel1 C T 11: 68,727,101 (GRCm39) R192H probably damaging Het
Nup210l A T 3: 90,022,371 (GRCm39) H113L probably damaging Het
Nxf1 A G 19: 8,746,546 (GRCm39) K586E probably damaging Het
Or2ag15 T C 7: 106,340,613 (GRCm39) H176R probably damaging Het
Or4s2 A G 2: 88,473,624 (GRCm39) E171G possibly damaging Het
Osbpl8 A G 10: 111,108,099 (GRCm39) Y365C possibly damaging Het
Pkd2l2 A G 18: 34,560,497 (GRCm39) Y368C probably damaging Het
Pkn2 A G 3: 142,515,465 (GRCm39) F649L probably benign Het
Pla2g4a T C 1: 149,755,798 (GRCm39) Y205C probably damaging Het
Prex2 A G 1: 11,232,522 (GRCm39) N863S probably benign Het
Prkdc A G 16: 15,605,019 (GRCm39) K2979R probably benign Het
Ptk6 T C 2: 180,840,253 (GRCm39) Y251C probably damaging Het
Rapgef6 T A 11: 54,525,607 (GRCm39) W334R probably damaging Het
Rbm11 A T 16: 75,393,655 (GRCm39) probably null Het
Rhbdl1 A G 17: 26,053,943 (GRCm39) L309P probably damaging Het
Rhbg G A 3: 88,153,133 (GRCm39) R274* probably null Het
Rpp30 A G 19: 36,081,845 (GRCm39) *269W probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Homo
Slc44a1 A G 4: 53,561,099 (GRCm39) K605R probably damaging Het
Slco2a1 A G 9: 102,927,346 (GRCm39) S80G probably benign Het
Tmem50b A T 16: 91,380,164 (GRCm39) M71K probably damaging Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Tyro3 A G 2: 119,638,481 (GRCm39) T303A possibly damaging Het
Uba3 A T 6: 97,173,869 (GRCm39) D105E probably damaging Het
Vmn1r21 T C 6: 57,821,255 (GRCm39) D63G probably benign Het
Vstm2b T A 7: 40,549,533 (GRCm39) I63N probably damaging Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown Het
Zscan22 T A 7: 12,640,834 (GRCm39) C359* probably null Het
Other mutations in Nudt21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02226:Nudt21 APN 8 94,746,329 (GRCm39) nonsense probably null
PIT4544001:Nudt21 UTSW 8 94,746,225 (GRCm39) missense unknown
R1172:Nudt21 UTSW 8 94,757,757 (GRCm39) splice site probably benign
R1576:Nudt21 UTSW 8 94,755,461 (GRCm39) critical splice donor site probably null
R6474:Nudt21 UTSW 8 94,746,282 (GRCm39) missense probably benign 0.02
R6961:Nudt21 UTSW 8 94,755,508 (GRCm39) missense probably benign
R7312:Nudt21 UTSW 8 94,746,227 (GRCm39) missense probably benign 0.00
R7737:Nudt21 UTSW 8 94,749,461 (GRCm39) missense probably damaging 1.00
R7755:Nudt21 UTSW 8 94,749,493 (GRCm39) missense probably benign 0.33
R8539:Nudt21 UTSW 8 94,763,601 (GRCm39) start gained probably benign
R8894:Nudt21 UTSW 8 94,755,498 (GRCm39) missense probably damaging 1.00
R9103:Nudt21 UTSW 8 94,746,321 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- GGGAAGCTAAGGTCTACTCTGATTA -3'
(R):5'- CCTAATATTCTACGGCAGTTGGA -3'

Sequencing Primer
(F):5'- TCAGCAGTTAGAGTCACTCACTGG -3'
(R):5'- CCCAGAAGGGAATTCTCA -3'
Posted On 2018-03-15