Incidental Mutation 'R6961:Nudt21'
ID 541764
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 045071-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6961 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 94746031-94763667 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 94755508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 133 (D133E)
Ref Sequence ENSEMBL: ENSMUSP00000148597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034204] [ENSMUST00000212622] [ENSMUST00000212911] [ENSMUST00000212981]
AlphaFold Q9CQF3
Predicted Effect probably benign
Transcript: ENSMUST00000034204
AA Change: D142E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034204
Gene: ENSMUSG00000031754
AA Change: D142E

DomainStartEndE-ValueType
Pfam:NUDIX_2 35 222 9.9e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212622
AA Change: D81E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212911
AA Change: D16E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000212981
AA Change: D133E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.8%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,024,148 (GRCm39) L168P probably damaging Het
Atp6v0d1 A G 8: 106,255,849 (GRCm39) L173P probably damaging Het
Baiap2l2 A G 15: 79,168,835 (GRCm39) F23L probably damaging Het
Cd200l1 T A 16: 45,264,366 (GRCm39) Y64F probably benign Het
Cdh23 G C 10: 60,485,893 (GRCm39) L41V probably benign Het
Cep120 C A 18: 53,836,277 (GRCm39) E803* probably null Het
Clcn7 C T 17: 25,376,188 (GRCm39) P560S probably damaging Het
Cldn12 A T 5: 5,557,707 (GRCm39) V240D probably damaging Het
Clec1a C T 6: 129,406,946 (GRCm39) E190K probably benign Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Crispld1 T A 1: 17,832,365 (GRCm39) H450Q probably damaging Het
Dsc2 A T 18: 20,171,279 (GRCm39) N573K probably damaging Het
Fam186a T A 15: 99,838,082 (GRCm39) I2721F probably benign Het
Fbxl13 A G 5: 21,748,740 (GRCm39) F393S probably damaging Het
Fut1 A T 7: 45,268,963 (GRCm39) I306F probably damaging Het
Gas2l3 T C 10: 89,249,153 (GRCm39) D655G probably benign Het
Gm29106 A T 1: 118,128,128 (GRCm39) K607* probably null Het
Gm57858 T A 3: 36,104,766 (GRCm39) I32F possibly damaging Het
Hmg20a T C 9: 56,396,012 (GRCm39) V268A probably benign Het
Il2rb T A 15: 78,370,024 (GRCm39) Y205F probably damaging Het
Ints4 A G 7: 97,190,397 (GRCm39) *965W probably null Het
Itsn2 T A 12: 4,723,420 (GRCm39) C1118* probably null Het
Jakmip1 T C 5: 37,330,697 (GRCm39) L459P probably damaging Het
Klhl8 T C 5: 104,018,435 (GRCm39) T323A possibly damaging Het
Mindy3 C A 2: 12,400,989 (GRCm39) probably null Het
Myo3a A G 2: 22,250,369 (GRCm39) T79A probably benign Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Napa C T 7: 15,843,034 (GRCm39) R53* probably null Het
Or2y3 T A 17: 38,393,096 (GRCm39) I258F probably damaging Het
Or4c115 T A 2: 88,928,149 (GRCm39) M41L probably benign Het
Or52b1 A T 7: 104,978,913 (GRCm39) I162K probably damaging Het
Or52s19 A G 7: 103,007,789 (GRCm39) V204A possibly damaging Het
Or56a41 A T 7: 104,741,978 (GRCm39) M16K probably benign Het
Or6c7 T C 10: 129,323,331 (GRCm39) F151L probably damaging Het
Pate13 G A 9: 35,819,740 (GRCm39) M1I probably null Het
Pira13 T C 7: 3,828,124 (GRCm39) Y61C probably damaging Het
Pla2g4e G T 2: 120,004,851 (GRCm39) probably null Het
Ptbp1 T C 10: 79,695,111 (GRCm39) probably null Het
Scfd2 A C 5: 74,680,202 (GRCm39) V317G possibly damaging Het
Slc45a1 T C 4: 150,714,110 (GRCm39) M712V probably damaging Het
Smg7 A T 1: 152,717,334 (GRCm39) L919* probably null Het
Sspo T A 6: 48,440,811 (GRCm39) S1758T probably benign Het
Tgfb2 A T 1: 186,382,032 (GRCm39) M165K possibly damaging Het
Tie1 C T 4: 118,343,402 (GRCm39) V154M probably damaging Het
Timm17a A G 1: 135,238,816 (GRCm39) probably benign Het
Tlr5 C T 1: 182,801,076 (GRCm39) R127* probably null Het
Ttc29 A C 8: 79,003,545 (GRCm39) I254L possibly damaging Het
Unc79 T C 12: 103,079,174 (GRCm39) S1780P probably damaging Het
Vmn2r106 A T 17: 20,488,646 (GRCm39) Y584* probably null Het
Zbtb24 A G 10: 41,331,171 (GRCm39) E366G probably 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
R6474:Nudt21 UTSW 8 94,746,282 (GRCm39) missense probably benign 0.02
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'- GGAAGCTAAGGTCTACTCTGATTA -3'
(R):5'- CTGTCCTAATATTCTACGGCAGTTG -3'

Sequencing Primer
(F):5'- TCAGCAGTTAGAGTCACTCACTGG -3'
(R):5'- CAGAAGGGAATTCTCAGGT -3'
Posted On 2018-11-28