Incidental Mutation 'R2905:Nudt4'
ID 261626
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 040492-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # R2905 (G1)
Quality Score 179
Status Validated
Chromosome 10
Chromosomal Location 95382869-95400008 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 95399571 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 17 (K17Q)
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: K17Q

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000020217
Gene: ENSMUSG00000020029
AA Change: K17Q

DomainStartEndE-ValueType
Pfam:NUDIX 17 141 1.3e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175126
Meta Mutation Damage Score 0.1353 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (32/32)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ajap1 C A 4: 153,517,284 (GRCm39) R19L probably benign Het
Alk A C 17: 72,292,489 (GRCm39) S496R probably benign Het
Arhgap15 T C 2: 43,953,798 (GRCm39) F175L probably damaging Het
Col12a1 G T 9: 79,559,307 (GRCm39) S1860R probably damaging Het
Cuedc2 C T 19: 46,321,088 (GRCm39) V15I probably benign Het
Dennd3 T A 15: 73,429,495 (GRCm39) L4Q probably damaging Het
Dusp8 T A 7: 141,637,126 (GRCm39) K234* probably null Het
Dzip1l A G 9: 99,545,722 (GRCm39) E657G probably damaging Het
F7 C T 8: 13,084,775 (GRCm39) T267I probably benign Het
Gm9791 T C 3: 34,059,336 (GRCm39) noncoding transcript Het
Hmcn1 A G 1: 150,624,786 (GRCm39) S1040P probably damaging Het
Ift56 T C 6: 38,378,037 (GRCm39) V283A possibly damaging Het
Jtb C G 3: 90,139,799 (GRCm39) P62R probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Ly6m T A 15: 74,751,716 (GRCm39) Y106F probably benign Het
Ly75 A G 2: 60,164,898 (GRCm39) V760A probably benign Het
Or6c217 T C 10: 129,738,269 (GRCm39) I103M possibly damaging Het
Pde4a A T 9: 21,112,645 (GRCm39) T274S probably benign Het
Pou6f1 C T 15: 100,483,839 (GRCm39) V220I probably benign Het
Relch T C 1: 105,619,719 (GRCm39) V316A probably benign Het
Rif1 T C 2: 51,988,516 (GRCm39) S752P probably damaging Het
Ror2 A G 13: 53,286,031 (GRCm39) I73T probably benign Het
Samhd1 A T 2: 156,965,335 (GRCm39) F160Y possibly damaging Het
Tas2r118 A G 6: 23,969,801 (GRCm39) F87L possibly damaging Het
Thop1 T C 10: 80,915,425 (GRCm39) L295P probably damaging Het
Tlr12 A G 4: 128,509,802 (GRCm39) M816T probably damaging Het
Trip12 T C 1: 84,732,064 (GRCm39) N970S probably benign Het
Ttll8 A T 15: 88,798,680 (GRCm39) M685K probably benign Het
Ushbp1 G A 8: 71,840,179 (GRCm39) R491* 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
R3722:Nudt4 UTSW 10 95,385,367 (GRCm39) splice site probably null
R6082:Nudt4 UTSW 10 95,387,318 (GRCm39) missense probably benign 0.01
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'- GCTTGCGACCTAATGGGAGG -3'
(R):5'- GCACCGTCGCTTCCAACTG -3'

Sequencing Primer
(F):5'- TCTAAAAGGCAGGCTGGC -3'
(R):5'- TCCAACTGTCTCCGCGTGG -3'
Posted On 2015-01-23