Incidental Mutation 'IGL02425:Nudt4'
ID292863
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nudt4
Ensembl Gene ENSMUSG00000020029
Gene Namenudix (nucleoside diphosphate linked moiety X)-type motif 4
Synonyms4933436C10Rik, DIPP2, DIPP2alpha, DIPP2beta, HDCMB47P
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.929) question?
Stock #IGL02425
Quality Score
Status
Chromosome10
Chromosomal Location95547007-95564146 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 95549383 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 149 (T149S)
Ref Sequence ENSEMBL: ENSMUSP00000020217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020217] [ENSMUST00000099329]
PDB Structure
Crystal structure of MS0616 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000020217
AA Change: T149S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020217
Gene: ENSMUSG00000020029
AA Change: T149S

DomainStartEndE-ValueType
Pfam:NUDIX 17 141 1.3e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099329
SMART Domains Protein: ENSMUSP00000096932
Gene: ENSMUSG00000074781

DomainStartEndE-ValueType
UBCc 6 149 3.13e-70 SMART
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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8430423G03Rik A G 5: 148,950,662 probably benign Het
Adam4 C T 12: 81,421,328 R173H probably benign Het
Akap12 A G 10: 4,356,034 E948G possibly damaging Het
Akr1c12 T C 13: 4,273,750 Y184C probably damaging Het
Avil T C 10: 127,018,447 V761A probably benign Het
Bahd1 T A 2: 118,919,164 F480L probably benign Het
Bicral T C 17: 46,808,454 T714A probably benign Het
Col4a3bp T C 13: 96,609,882 I263T probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2d34 C T 15: 82,618,279 V219I probably benign Het
Dsn1 A G 2: 156,996,747 V316A probably damaging Het
Errfi1 T A 4: 150,866,356 F80L probably benign Het
Fam221b A G 4: 43,660,642 probably null Het
Fgd6 G A 10: 94,074,202 G790R probably benign Het
Fn1 T C 1: 71,641,143 probably benign Het
Gldn T A 9: 54,338,721 Y519N probably damaging Het
Il18r1 T C 1: 40,491,221 probably benign Het
Itpr2 A G 6: 146,391,321 V380A probably damaging Het
Kcnab1 T C 3: 65,302,179 Y154H possibly damaging Het
Lama1 T C 17: 67,811,485 V2564A probably benign Het
Lca5 T C 9: 83,399,721 T337A probably damaging Het
Lrp1 A G 10: 127,571,887 probably null Het
Moxd1 A G 10: 24,279,436 N245S probably benign Het
Napepld T C 5: 21,683,442 E3G probably benign Het
Nr1d2 T C 14: 18,222,011 T87A probably benign Het
Rad18 A T 6: 112,620,898 D219E probably damaging Het
Ryr2 T C 13: 11,745,674 I1508V probably damaging Het
Setx G A 2: 29,148,408 S1635N probably benign Het
Slc6a19 A G 13: 73,691,800 V121A probably benign Het
Snapc4 T C 2: 26,368,200 D736G probably damaging Het
Spink5 T C 18: 43,990,744 probably null Het
Strip1 T C 3: 107,614,646 I739V probably benign Het
Tmem161a T C 8: 70,176,927 probably null Het
Top1mt T C 15: 75,676,121 T39A probably benign Het
Trpm1 T C 7: 64,240,427 M926T probably damaging Het
Ttn T A 2: 76,757,280 K19744* probably null Het
Vmn2r26 A G 6: 124,061,818 E784G probably damaging Het
Wnk1 A G 6: 119,963,454 F774S probably damaging Het
Zfp317 T A 9: 19,643,613 Y101* probably null Het
Other mutations in Nudt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2137:Nudt4 UTSW 10 95563738 missense probably damaging 1.00
R2905:Nudt4 UTSW 10 95563709 missense probably benign 0.00
R3722:Nudt4 UTSW 10 95549505 splice site probably null
R6082:Nudt4 UTSW 10 95551456 missense probably benign 0.01
RF003:Nudt4 UTSW 10 95549374 missense possibly damaging 0.72
RF018:Nudt4 UTSW 10 95549813 splice site probably null
Z1088:Nudt4 UTSW 10 95552515 missense probably benign 0.14
Posted On2015-04-16