Incidental Mutation 'R6474:Nudt21'
ID 516735
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 044607-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6474 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 94746031-94763667 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 94746282 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 139 (V139I)
Ref Sequence ENSEMBL: ENSMUSP00000148485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034204] [ENSMUST00000212622] [ENSMUST00000212911] [ENSMUST00000212981]
AlphaFold Q9CQF3
Predicted Effect probably benign
Transcript: ENSMUST00000034204
SMART Domains Protein: ENSMUSP00000034204
Gene: ENSMUSG00000031754

DomainStartEndE-ValueType
Pfam:NUDIX_2 35 222 9.9e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212622
AA Change: V139I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000212911
Predicted Effect probably benign
Transcript: ENSMUST00000212981
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency 100% (35/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 T A 8: 71,914,359 (GRCm39) N90Y probably damaging Het
Alkal1 T C 1: 6,459,670 (GRCm39) V82A probably damaging Het
Ascc3 T C 10: 50,624,932 (GRCm39) S1607P probably benign Het
Ccny A T 18: 9,345,427 (GRCm39) L149H probably damaging Het
Clptm1 T C 7: 19,369,762 (GRCm39) N383D possibly damaging Het
Clrn2 T A 5: 45,621,074 (GRCm39) M156K probably benign Het
Coro2b T A 9: 62,333,910 (GRCm39) H328L probably benign Het
Echs1 A T 7: 139,688,055 (GRCm39) M250K probably benign Het
Ecsit A G 9: 21,985,981 (GRCm39) V145A possibly damaging Het
Fas G A 19: 34,293,969 (GRCm39) G108D probably damaging Het
Folh1 A G 7: 86,424,964 (GRCm39) W2R probably damaging Het
Gba1 C T 3: 89,111,388 (GRCm39) P51L probably benign Het
Grik2 C T 10: 49,008,776 (GRCm39) M770I probably benign Het
Hcst T C 7: 30,117,250 (GRCm39) N74S probably damaging Het
Hdac9 T A 12: 34,481,990 (GRCm39) probably null Het
Hsfy2 T A 1: 56,676,150 (GRCm39) D129V probably damaging Het
Htt T C 5: 34,982,239 (GRCm39) V941A probably benign Het
Naip5 A G 13: 100,351,171 (GRCm39) V1279A possibly damaging Het
Neb T A 2: 52,170,624 (GRCm39) M1683L probably benign Het
Or5e1 T C 7: 108,354,236 (GRCm39) Y58H probably damaging Het
Pex2 A G 3: 5,626,191 (GRCm39) F206S probably damaging Het
Plek2 C A 12: 78,943,065 (GRCm39) R77L probably benign Het
Ppfia1 A T 7: 144,059,942 (GRCm39) D623E possibly damaging Het
Ppm1l T A 3: 69,460,374 (GRCm39) I317N probably damaging Het
Prkacb T A 3: 146,461,479 (GRCm39) T36S probably damaging Het
Sphkap T A 1: 83,256,544 (GRCm39) I115F probably damaging Het
Sprtn G T 8: 125,625,873 (GRCm39) E95* probably null Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tcap C A 11: 98,275,003 (GRCm39) Q46K probably benign Het
Thada T C 17: 84,751,339 (GRCm39) I546V possibly damaging Het
Tubal3 T A 13: 3,983,107 (GRCm39) S296T probably benign Het
Ube3a A G 7: 58,936,772 (GRCm39) N683D probably damaging Het
Vmn2r82 T G 10: 79,214,871 (GRCm39) L285V possibly damaging Het
Zfp871 T C 17: 32,994,647 (GRCm39) D157G possibly damaging 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
R6293:Nudt21 UTSW 8 94,755,506 (GRCm39) missense probably damaging 1.00
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'- AAAGGATCCTCGGCTCTAAGAC -3'
(R):5'- CAGTGAGGTCAATGTTCATTGTAG -3'

Sequencing Primer
(F):5'- TCGGCTCTAAGACTTTTCAGAG -3'
(R):5'- TTAACATGTCGGAAGGGG -3'
Posted On 2018-05-21