Incidental Mutation 'R6240:Nudt9'
ID 505165
Institutional Source Beutler Lab
Gene Symbol Nudt9
Ensembl Gene ENSMUSG00000029310
Gene Name nudix hydrolase 9
Synonyms nudix (nucleoside diphosphate linked moiety X)-type motif 9, 1190002C07Rik
MMRRC Submission 044364-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.210) question?
Stock # R6240 (G1)
Quality Score 143.008
Status Validated
Chromosome 5
Chromosomal Location 104194172-104213245 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104194955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 17 (V17A)
Ref Sequence ENSEMBL: ENSMUSP00000031250 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031250] [ENSMUST00000128511] [ENSMUST00000134313] [ENSMUST00000148261] [ENSMUST00000150226]
AlphaFold Q8BVU5
Predicted Effect probably benign
Transcript: ENSMUST00000031250
AA Change: V17A

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000031250
Gene: ENSMUSG00000029310
AA Change: V17A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 152 166 N/A INTRINSIC
Pfam:NUDIX 189 334 1.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128511
SMART Domains Protein: ENSMUSP00000119820
Gene: ENSMUSG00000029310

DomainStartEndE-ValueType
PDB:1QVJ|A 9 158 1e-89 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000134313
SMART Domains Protein: ENSMUSP00000117181
Gene: ENSMUSG00000029310

DomainStartEndE-ValueType
PDB:1QVJ|A 9 152 2e-84 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142018
Predicted Effect probably benign
Transcript: ENSMUST00000148261
SMART Domains Protein: ENSMUSP00000115170
Gene: ENSMUSG00000029310

DomainStartEndE-ValueType
PDB:1QVJ|A 9 110 2e-68 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000150226
SMART Domains Protein: ENSMUSP00000114631
Gene: ENSMUSG00000029310

DomainStartEndE-ValueType
low complexity region 102 116 N/A INTRINSIC
Pfam:NUDIX 131 207 6.4e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196765
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176065
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 98% (62/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C A 14: 64,223,701 (GRCm39) R25L probably damaging Het
Adamts1 G A 16: 85,599,045 (GRCm39) S185L probably benign Het
Adamts12 A T 15: 11,286,044 (GRCm39) D751V probably benign Het
Adgrg3 A G 8: 95,766,544 (GRCm39) D405G probably benign Het
Ahi1 A G 10: 20,852,980 (GRCm39) D516G probably damaging Het
Ahnak A T 19: 8,990,947 (GRCm39) D4077V probably damaging Het
Arhgef18 G A 8: 3,489,658 (GRCm39) R330Q probably damaging Het
Arid1a A G 4: 133,407,997 (GRCm39) V2170A unknown Het
Asxl3 C T 18: 22,598,565 (GRCm39) L227F probably damaging Het
B3glct A G 5: 149,650,253 (GRCm39) I119V probably benign Het
Brd10 A T 19: 29,694,640 (GRCm39) S1618T probably benign Het
Cad T A 5: 31,230,322 (GRCm39) M1512K probably benign Het
Cdc25a A G 9: 109,713,226 (GRCm39) T172A probably damaging Het
Cdh18 A G 15: 23,227,022 (GRCm39) D161G possibly damaging Het
Clmp A G 9: 40,693,707 (GRCm39) N308S probably damaging Het
Dlg5 A T 14: 24,199,596 (GRCm39) probably null Het
Dscam G A 16: 96,420,702 (GRCm39) T1728M probably damaging Het
E4f1 A G 17: 24,663,556 (GRCm39) S524P possibly damaging Het
Epha5 G C 5: 84,265,438 (GRCm39) A452G probably benign Het
Fzd3 T C 14: 65,447,304 (GRCm39) T542A probably damaging Het
Glyctk A T 9: 106,033,461 (GRCm39) probably null Het
Gm10382 G A 5: 125,466,660 (GRCm39) probably benign Het
Hnmt T A 2: 23,904,281 (GRCm39) M127L probably benign Het
Hoxc10 T A 15: 102,879,265 (GRCm39) W262R probably damaging Het
Icam5 T A 9: 20,944,454 (GRCm39) W52R possibly damaging Het
Jazf1 A T 6: 52,754,537 (GRCm39) C180S probably damaging Het
Kcnk2 A G 1: 188,975,179 (GRCm39) W286R probably damaging Het
Kcnmb2 C T 3: 32,236,045 (GRCm39) S98F probably damaging Het
Mob3a C G 10: 80,525,698 (GRCm39) E204D possibly damaging Het
Morc3 C G 16: 93,659,572 (GRCm39) H459D probably damaging Het
Mroh2b A T 15: 4,964,126 (GRCm39) N876I probably benign Het
Myo16 A T 8: 10,420,930 (GRCm39) T257S probably damaging Het
Nat1 A T 8: 67,944,354 (GRCm39) R243S possibly damaging Het
Or13p8 A G 4: 118,583,668 (GRCm39) S75G probably benign Het
Or4c111 A G 2: 88,843,970 (GRCm39) I146T probably benign Het
Or4c11c A G 2: 88,661,707 (GRCm39) D82G probably benign Het
Or4m1 A G 14: 50,558,043 (GRCm39) V83A probably benign Het
Or6c70 C A 10: 129,710,546 (GRCm39) V27L probably benign Het
Pcdh7 T C 5: 57,878,704 (GRCm39) L753P probably damaging Het
Pcf11 T A 7: 92,295,710 (GRCm39) E1446D probably damaging Het
Pepd A G 7: 34,721,176 (GRCm39) I267V probably benign Het
Plk2 T A 13: 110,536,008 (GRCm39) Y571N probably damaging Het
Plk2 T A 13: 110,536,568 (GRCm39) V620E probably damaging Het
Prag1 T C 8: 36,570,506 (GRCm39) L363P probably benign Het
Psmd3 A G 11: 98,584,479 (GRCm39) T387A probably damaging Het
Ptgs1 G A 2: 36,127,297 (GRCm39) C61Y probably damaging Het
Rab18 T C 18: 6,784,635 (GRCm39) Y109H probably benign Het
Robo2 G A 16: 73,779,027 (GRCm39) P358L probably damaging Het
Smarcc2 C T 10: 128,323,893 (GRCm39) probably benign Het
Spata31e4 G A 13: 50,855,453 (GRCm39) D364N probably damaging Het
Srgap1 A G 10: 121,883,061 (GRCm39) I13T probably benign Het
Tcf12 T A 9: 71,851,298 (GRCm39) K110* probably null Het
Tdrd1 T C 19: 56,829,767 (GRCm39) S214P probably benign Het
Tdrd3 T A 14: 87,743,322 (GRCm39) N417K probably damaging Het
Tmem255b A G 8: 13,504,216 (GRCm39) Y136C probably damaging Het
Tmem63c A T 12: 87,123,179 (GRCm39) I448F possibly damaging Het
Tnpo1 T C 13: 99,000,337 (GRCm39) I335M probably damaging Het
Vmn1r1 T C 1: 181,985,186 (GRCm39) T160A probably damaging Het
Vmn1r203 A G 13: 22,708,899 (GRCm39) N227D possibly damaging Het
Vmn2r6 T A 3: 64,464,226 (GRCm39) S203C probably damaging Het
Zfp628 A G 7: 4,922,848 (GRCm39) T357A possibly damaging Het
Zfp872 A G 9: 22,111,180 (GRCm39) K220E probably damaging Het
Other mutations in Nudt9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Nudt9 APN 5 104,209,628 (GRCm39) unclassified probably benign
IGL01398:Nudt9 APN 5 104,212,979 (GRCm39) makesense probably null
IGL01910:Nudt9 APN 5 104,202,175 (GRCm39) missense probably damaging 0.96
IGL02441:Nudt9 APN 5 104,212,885 (GRCm39) missense probably benign 0.01
IGL03207:Nudt9 APN 5 104,206,092 (GRCm39) splice site probably benign
steady UTSW 5 104,205,977 (GRCm39) missense probably damaging 1.00
streak UTSW 5 104,198,487 (GRCm39) start codon destroyed possibly damaging 0.89
Struck UTSW 5 104,212,904 (GRCm39) nonsense probably null
R0136:Nudt9 UTSW 5 104,194,972 (GRCm39) missense probably benign
R0227:Nudt9 UTSW 5 104,209,541 (GRCm39) missense possibly damaging 0.90
R0652:Nudt9 UTSW 5 104,198,467 (GRCm39) missense possibly damaging 0.48
R0755:Nudt9 UTSW 5 104,212,920 (GRCm39) missense probably damaging 0.98
R1156:Nudt9 UTSW 5 104,198,596 (GRCm39) nonsense probably null
R1462:Nudt9 UTSW 5 104,212,904 (GRCm39) nonsense probably null
R1462:Nudt9 UTSW 5 104,212,904 (GRCm39) nonsense probably null
R1962:Nudt9 UTSW 5 104,212,971 (GRCm39) missense probably benign
R2697:Nudt9 UTSW 5 104,212,859 (GRCm39) missense probably damaging 1.00
R2916:Nudt9 UTSW 5 104,203,424 (GRCm39) missense probably damaging 1.00
R3780:Nudt9 UTSW 5 104,194,972 (GRCm39) missense probably benign
R3972:Nudt9 UTSW 5 104,194,991 (GRCm39) missense probably benign 0.00
R4354:Nudt9 UTSW 5 104,205,977 (GRCm39) missense probably damaging 1.00
R5325:Nudt9 UTSW 5 104,198,487 (GRCm39) start codon destroyed possibly damaging 0.89
R5652:Nudt9 UTSW 5 104,207,646 (GRCm39) missense probably benign 0.19
R6087:Nudt9 UTSW 5 104,198,679 (GRCm39) missense probably benign 0.00
R6241:Nudt9 UTSW 5 104,202,151 (GRCm39) missense probably damaging 0.98
R6280:Nudt9 UTSW 5 104,212,935 (GRCm39) missense probably benign
R6719:Nudt9 UTSW 5 104,209,562 (GRCm39) missense probably damaging 1.00
R6865:Nudt9 UTSW 5 104,207,545 (GRCm39) missense probably damaging 1.00
R7225:Nudt9 UTSW 5 104,212,966 (GRCm39) missense probably benign
R7629:Nudt9 UTSW 5 104,198,560 (GRCm39) missense possibly damaging 0.90
R7685:Nudt9 UTSW 5 104,194,946 (GRCm39) nonsense probably null
R8027:Nudt9 UTSW 5 104,212,793 (GRCm39) splice site probably benign
R8029:Nudt9 UTSW 5 104,198,477 (GRCm39) start gained probably benign
X0063:Nudt9 UTSW 5 104,198,560 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACACAGGTTAGTTTGCGGC -3'
(R):5'- GCTTCCCAAAATCCAGTACTTCAG -3'

Sequencing Primer
(F):5'- CGTCGGGTACGTCGTGG -3'
(R):5'- TCCAGTACTTCAGCACAGC -3'
Posted On 2018-02-28