Incidental Mutation 'R6082:Nudt4'
ID 482247
Institutional Source Beutler Lab
Gene Symbol Nudt4
Ensembl Gene ENSMUSG00000020029
Gene Name nudix hydrolase 4
Synonyms DIPP2, DIPP2beta, DIPP2alpha, HDCMB47P, 4933436C10Rik, nudix (nucleoside diphosphate linked moiety X)-type motif 4
MMRRC Submission 044241-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R6082 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 95382869-95400008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95387318 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 82 (I82T)
Ref Sequence ENSEMBL: ENSMUSP00000020217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020217]
AlphaFold Q8R2U6
PDB Structure Crystal structure of MS0616 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000020217
AA Change: I82T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000020217
Gene: ENSMUSG00000020029
AA Change: I82T

DomainStartEndE-ValueType
Pfam:NUDIX 17 141 1.3e-19 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
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 regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T C 1: 11,868,752 (GRCm39) I344T probably benign Het
Adamts19 G A 18: 59,101,846 (GRCm39) A639T probably benign Het
Adamts9 T C 6: 92,866,930 (GRCm39) D122G probably damaging Het
Bin2 A G 15: 100,543,029 (GRCm39) S358P possibly damaging Het
Bora A T 14: 99,299,730 (GRCm39) Q234L possibly damaging Het
Btaf1 C T 19: 36,960,942 (GRCm39) R772C probably damaging Het
Cenpf T C 1: 189,390,301 (GRCm39) E1177G probably benign Het
Clec4b2 A T 6: 123,181,100 (GRCm39) probably null Het
Dedd2 G A 7: 24,910,715 (GRCm39) P154S probably benign Het
Dennd5b A G 6: 148,970,193 (GRCm39) S87P probably damaging Het
Dhx8 C T 11: 101,655,139 (GRCm39) R1050W probably damaging Het
Eif3a T C 19: 60,760,568 (GRCm39) K682R possibly damaging Het
Eif4e2 G T 1: 87,153,956 (GRCm39) probably null Het
Ephb1 T C 9: 101,848,303 (GRCm39) D665G probably damaging Het
Gbp7 G A 3: 142,251,697 (GRCm39) V515M probably benign Het
Hnrnpdl C T 5: 100,184,340 (GRCm39) G398S probably null Het
Hook3 C A 8: 26,600,813 (GRCm39) A32S probably benign Het
Hoxb4 T C 11: 96,209,359 (GRCm39) probably benign Het
Idi1 T A 13: 8,940,506 (GRCm39) Y229* probably null Het
Lpl A T 8: 69,349,301 (GRCm39) I276F probably damaging Het
Ltbp4 T C 7: 27,035,105 (GRCm39) probably benign Het
Mphosph8 A G 14: 56,905,998 (GRCm39) I64V probably damaging Het
Mroh1 A G 15: 76,314,423 (GRCm39) D700G probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Myt1l T C 12: 29,892,518 (GRCm39) Y52H probably damaging Het
Nlrp9a T A 7: 26,267,402 (GRCm39) D777E probably benign Het
Nwd2 T C 5: 63,962,374 (GRCm39) C653R possibly damaging Het
Obscn A G 11: 58,890,393 (GRCm39) Y7380H unknown Het
Or13a18 A G 7: 140,190,594 (GRCm39) T172A probably benign Het
Or8b3b C A 9: 38,583,866 (GRCm39) R291S probably damaging Het
Or8j3 A C 2: 86,028,661 (GRCm39) V145G probably damaging Het
Or8s8 C T 15: 98,354,647 (GRCm39) A152V probably damaging Het
Ptk2 A T 15: 73,148,714 (GRCm39) M409K probably damaging Het
Ptpn11 T C 5: 121,292,589 (GRCm39) T253A probably benign Het
Rabl6 C T 2: 25,473,837 (GRCm39) probably benign Het
Rnf14 T C 18: 38,434,723 (GRCm39) S57P possibly damaging Het
Scnm1 T C 3: 95,037,596 (GRCm39) I157V probably benign Het
Slco1b2 A C 6: 141,609,396 (GRCm39) I269L probably benign Het
Smchd1 A G 17: 71,656,714 (GRCm39) Y1918H probably benign Het
Spag17 A T 3: 100,031,501 (GRCm39) I2255F possibly damaging Het
Spata31g1 A G 4: 42,972,511 (GRCm39) M615V probably benign Het
Tnnt2 A G 1: 135,777,172 (GRCm39) M199V probably benign Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Vmn2r73 T A 7: 85,507,429 (GRCm39) I628L probably benign Het
Zc2hc1b C A 10: 13,047,055 (GRCm39) E19* probably null Het
Other mutations in Nudt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02425:Nudt4 APN 10 95,385,245 (GRCm39) missense probably benign
R2137:Nudt4 UTSW 10 95,399,600 (GRCm39) missense probably damaging 1.00
R2905:Nudt4 UTSW 10 95,399,571 (GRCm39) missense probably benign 0.00
R3722:Nudt4 UTSW 10 95,385,367 (GRCm39) splice site probably null
RF003:Nudt4 UTSW 10 95,385,236 (GRCm39) missense possibly damaging 0.72
RF018:Nudt4 UTSW 10 95,385,675 (GRCm39) splice site probably null
Z1088:Nudt4 UTSW 10 95,388,377 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- ATGCTGCCTATGCCCATGTG -3'
(R):5'- TCTATACATAGGCAGTGAGTCTTGG -3'

Sequencing Primer
(F):5'- CCCATGTGGCCAGTCTTTGTG -3'
(R):5'- GGCCAAGAAATTTACAATTAGACAGC -3'
Posted On 2017-07-14