Incidental Mutation 'R5562:Nudt7'
ID 436660
Institutional Source Beutler Lab
Gene Symbol Nudt7
Ensembl Gene ENSMUSG00000031767
Gene Name nudix hydrolase 7
Synonyms 1300007B24Rik, 2210404C19Rik, nudix (nucleoside diphosphate linked moiety X)-type motif 7
MMRRC Submission 043119-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R5562 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 114860314-114881471 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 114874723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 93 (A93D)
Ref Sequence ENSEMBL: ENSMUSP00000114598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066514] [ENSMUST00000073521] [ENSMUST00000109109] [ENSMUST00000134593] [ENSMUST00000147605]
AlphaFold Q99P30
Predicted Effect probably damaging
Transcript: ENSMUST00000066514
AA Change: A64D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065791
Gene: ENSMUSG00000031767
AA Change: A64D

DomainStartEndE-ValueType
Pfam:NUDIX 15 140 4.1e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000073521
AA Change: A93D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073213
Gene: ENSMUSG00000031767
AA Change: A93D

DomainStartEndE-ValueType
Pfam:NUDIX 38 168 4.4e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109109
AA Change: A117D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104737
Gene: ENSMUSG00000031767
AA Change: A117D

DomainStartEndE-ValueType
Pfam:NUDIX 62 193 3.2e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134593
AA Change: A93D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116868
Gene: ENSMUSG00000031767
AA Change: A93D

DomainStartEndE-ValueType
Pfam:NUDIX 38 146 4.2e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147605
AA Change: A93D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114598
Gene: ENSMUSG00000031767
AA Change: A93D

DomainStartEndE-ValueType
Pfam:NUDIX 38 107 1.2e-8 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.3%
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 a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a7 G A 19: 20,679,628 (GRCm39) Q383* probably null Het
Alkbh3 A T 2: 93,826,724 (GRCm39) probably null Het
Amotl1 G A 9: 14,486,593 (GRCm39) P434S possibly damaging Het
Arfgef1 T C 1: 10,214,971 (GRCm39) E1641G probably damaging Het
Arih2 T C 9: 108,484,546 (GRCm39) T422A probably damaging Het
C7 A T 15: 5,061,397 (GRCm39) Y317* probably null Het
Car4 A T 11: 84,854,924 (GRCm39) M91L probably benign Het
Ccdc7a T C 8: 129,785,266 (GRCm39) D98G possibly damaging Het
Cdc25b A G 2: 131,036,678 (GRCm39) M493V probably damaging Het
Cdhr3 C G 12: 33,101,054 (GRCm39) R452T probably benign Het
Col6a2 G A 10: 76,435,509 (GRCm39) Q909* probably null Het
Cyp2j8 A G 4: 96,358,890 (GRCm39) I343T probably damaging Het
Dcstamp G A 15: 39,617,798 (GRCm39) C69Y possibly damaging Het
Dnaaf8 C A 16: 4,791,940 (GRCm39) noncoding transcript Het
Efhc1 C T 1: 21,043,104 (GRCm39) T341I probably damaging Het
Elovl2 A G 13: 41,338,772 (GRCm39) *276Q probably null Het
Fnip1 T A 11: 54,380,168 (GRCm39) probably null Het
Foxc1 A G 13: 31,991,573 (GRCm39) H128R probably damaging Het
Gpr107 C T 2: 31,042,375 (GRCm39) A2V probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Kif15 A T 9: 122,807,081 (GRCm39) Q44H probably damaging Het
Masp1 T C 16: 23,283,917 (GRCm39) probably null Het
Muc5b T C 7: 141,400,975 (GRCm39) I530T unknown Het
Ncoa4-ps T A 12: 119,225,957 (GRCm39) noncoding transcript Het
Nherf2 A G 17: 24,860,798 (GRCm39) V137A probably benign Het
Or5w1b T C 2: 87,476,063 (GRCm39) I135V probably benign Het
Pcdha8 A G 18: 37,126,024 (GRCm39) T169A possibly damaging Het
Prnp A G 2: 131,778,951 (GRCm39) D201G probably damaging Het
Serinc1 G A 10: 57,400,147 (GRCm39) Q167* probably null Het
Slc13a5 A G 11: 72,152,865 (GRCm39) V35A probably damaging Het
Slc30a6 C T 17: 74,719,700 (GRCm39) T220I possibly damaging Het
Slc7a7 T A 14: 54,646,269 (GRCm39) M65L probably benign Het
Speg T A 1: 75,403,700 (GRCm39) L2627Q probably damaging Het
Tank A G 2: 61,480,552 (GRCm39) T363A possibly damaging Het
Taok3 T A 5: 117,389,029 (GRCm39) L478Q probably damaging Het
Trim55 A T 3: 19,713,317 (GRCm39) M123L probably benign Het
Trpm2 A G 10: 77,795,773 (GRCm39) V118A possibly damaging Het
Ttn A T 2: 76,600,803 (GRCm39) Y17114N probably damaging Het
Unc5c A G 3: 141,474,291 (GRCm39) T214A probably damaging Het
Ush2a T A 1: 188,308,414 (GRCm39) V2021E probably damaging Het
Utp4 G A 8: 107,649,557 (GRCm39) D669N probably benign Het
Zfp560 G T 9: 20,261,883 (GRCm39) Y89* probably null Het
Zfp64 A G 2: 168,767,642 (GRCm39) S657P probably benign Het
Other mutations in Nudt7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01554:Nudt7 APN 8 114,874,625 (GRCm39) splice site probably benign
IGL02549:Nudt7 APN 8 114,878,688 (GRCm39) missense probably damaging 1.00
R0525:Nudt7 UTSW 8 114,878,392 (GRCm39) critical splice acceptor site probably null
R0781:Nudt7 UTSW 8 114,862,111 (GRCm39) intron probably benign
R5167:Nudt7 UTSW 8 114,878,567 (GRCm39) nonsense probably null
R5198:Nudt7 UTSW 8 114,862,185 (GRCm39) splice site probably null
R5597:Nudt7 UTSW 8 114,878,506 (GRCm39) missense probably benign 0.12
R6957:Nudt7 UTSW 8 114,860,385 (GRCm39) missense probably benign 0.03
R7410:Nudt7 UTSW 8 114,860,559 (GRCm39) intron probably benign
R8245:Nudt7 UTSW 8 114,863,080 (GRCm39) missense probably damaging 0.99
R8248:Nudt7 UTSW 8 114,878,737 (GRCm39) missense probably benign 0.08
R9602:Nudt7 UTSW 8 114,878,499 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTAGATGCTGAGTCGATACTTG -3'
(R):5'- TGAAACTCACTGAGGTGGCTC -3'

Sequencing Primer
(F):5'- CGATACTTGTTGAGTGCCTAAATGC -3'
(R):5'- GAAGGGCCACAGAGCTCAC -3'
Posted On 2016-10-24