Incidental Mutation 'IGL02226:Nudt21'
ID285350
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nudt21
Ensembl Gene ENSMUSG00000031754
Gene Namenudix (nucleoside diphosphate linked moiety X)-type motif 21
Synonyms25kDa, Cpsf5, 5730530J16Rik, 3110048P04Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02226
Quality Score
Status
Chromosome8
Chromosomal Location94015496-94037031 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 94019701 bp
ZygosityHeterozygous
Amino Acid Change Serine to Stop codon at position 123 (S123*)
Ref Sequence ENSEMBL: ENSMUSP00000148485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034204] [ENSMUST00000212622] [ENSMUST00000212911] [ENSMUST00000212981]
Predicted Effect probably benign
Transcript: ENSMUST00000034204
AA Change: F222L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000034204
Gene: ENSMUSG00000031754
AA Change: F222L

DomainStartEndE-ValueType
Pfam:NUDIX_2 35 222 9.9e-85 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000212622
AA Change: S123*
Predicted Effect probably benign
Transcript: ENSMUST00000212911
Predicted Effect possibly damaging
Transcript: ENSMUST00000212981
AA Change: F213L

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930415L06Rik A C X: 89,931,912 D226E probably damaging Het
Akap6 T C 12: 53,010,467 probably benign Het
Ankrd11 G A 8: 122,892,245 R1602W probably damaging Het
Arhgap23 G T 11: 97,451,600 R236L probably benign Het
Aurkaip1 T C 4: 155,832,571 V92A probably benign Het
Cdh20 A T 1: 104,954,091 probably benign Het
Ctnnd2 A G 15: 30,847,336 N691S probably benign Het
Ddx24 A C 12: 103,424,458 D2E possibly damaging Het
Dennd5b A G 6: 149,033,301 S691P probably benign Het
Dhrs3 C T 4: 144,923,949 R248W possibly damaging Het
Dlgap1 T C 17: 70,516,034 S5P probably damaging Het
Ep300 A T 15: 81,613,412 M510L unknown Het
Fbxo25 T C 8: 13,923,922 probably benign Het
Gm3252 A T 14: 4,743,741 K193M possibly damaging Het
Gtf3c1 T C 7: 125,667,990 probably null Het
Helz2 T C 2: 181,231,690 D2337G probably damaging Het
Idh1 A T 1: 65,161,922 M290K probably damaging Het
Layn T C 9: 51,074,017 S80G probably damaging Het
Ltbp4 C T 7: 27,306,934 E1440K probably damaging Het
Mri1 T C 8: 84,256,295 T166A probably damaging Het
Myod1 C T 7: 46,378,306 T290I probably benign Het
Nfat5 T A 8: 107,351,522 L431* probably null Het
Nle1 A T 11: 82,904,307 Y299* probably null Het
Nlrp4c T A 7: 6,066,829 F576L possibly damaging Het
Plekhg1 A C 10: 3,945,916 D436A probably damaging Het
Plxna2 T C 1: 194,644,424 V222A probably damaging Het
Rbm14 A G 19: 4,801,717 probably benign Het
Scfd1 T A 12: 51,389,381 probably benign Het
Slc34a2 A G 5: 53,067,731 T405A probably benign Het
Slc39a9 T A 12: 80,644,921 M14K probably damaging Het
Slc39a9 G A 12: 80,644,922 M14I probably damaging Het
Spast G A 17: 74,372,339 probably benign Het
Spen T C 4: 141,478,146 R1057G unknown Het
Sptbn4 T G 7: 27,365,707 T2056P probably damaging Het
Ssrp1 T C 2: 85,040,361 L148P probably damaging Het
Tdrd6 T A 17: 43,627,202 H985L probably damaging Het
Tmem44 A G 16: 30,539,381 probably benign Het
Vmn2r116 T A 17: 23,384,834 L11Q probably null Het
Wdr78 A T 4: 103,090,398 I227K probably benign Het
Other mutations in Nudt21
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4544001:Nudt21 UTSW 8 94019597 missense unknown
R1172:Nudt21 UTSW 8 94031129 splice site probably benign
R1576:Nudt21 UTSW 8 94028833 critical splice donor site probably null
R6293:Nudt21 UTSW 8 94028878 missense probably damaging 1.00
R6474:Nudt21 UTSW 8 94019654 missense probably benign 0.02
R6961:Nudt21 UTSW 8 94028880 missense probably benign
R7312:Nudt21 UTSW 8 94019599 missense probably benign 0.00
Posted On2015-04-16