Incidental Mutation 'IGL02549:Nudt7'
ID 297961
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nudt7
Ensembl Gene ENSMUSG00000031767
Gene Name nudix hydrolase 7
Synonyms 1300007B24Rik, 2210404C19Rik, nudix (nucleoside diphosphate linked moiety X)-type motif 7
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL02549
Quality Score
Status
Chromosome 8
Chromosomal Location 114860314-114881471 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 114878688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 239 (D239Y)
Ref Sequence ENSEMBL: ENSMUSP00000104737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066514] [ENSMUST00000073521] [ENSMUST00000109109] [ENSMUST00000134593] [ENSMUST00000147605]
AlphaFold Q99P30
Predicted Effect probably damaging
Transcript: ENSMUST00000066514
AA Change: D186Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065791
Gene: ENSMUSG00000031767
AA Change: D186Y

DomainStartEndE-ValueType
Pfam:NUDIX 15 140 4.1e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000073521
AA Change: D215Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073213
Gene: ENSMUSG00000031767
AA Change: D215Y

DomainStartEndE-ValueType
Pfam:NUDIX 38 168 4.4e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109109
AA Change: D239Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104737
Gene: ENSMUSG00000031767
AA Change: D239Y

DomainStartEndE-ValueType
Pfam:NUDIX 62 193 3.2e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134593
SMART Domains Protein: ENSMUSP00000116868
Gene: ENSMUSG00000031767

DomainStartEndE-ValueType
Pfam:NUDIX 38 146 4.2e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147605
AA Change: D195Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114598
Gene: ENSMUSG00000031767
AA Change: D195Y

DomainStartEndE-ValueType
Pfam:NUDIX 38 107 1.2e-8 PFAM
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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 109,992,879 (GRCm39) E1595G probably damaging Het
Adnp2 G A 18: 80,172,333 (GRCm39) A692V probably damaging Het
Ankk1 A G 9: 49,329,993 (GRCm39) S321P probably damaging Het
Ankrd11 T C 8: 123,618,032 (GRCm39) Y1919C probably damaging Het
Atp10a A G 7: 58,469,481 (GRCm39) T1111A probably benign Het
Avpr1a A T 10: 122,288,069 (GRCm39) H359L possibly damaging Het
C1rl A T 6: 124,470,796 (GRCm39) I35F possibly damaging Het
Casp8 G A 1: 58,872,925 (GRCm39) C287Y probably benign Het
Ccdc88c A T 12: 100,895,191 (GRCm39) S1437T probably benign Het
Cd200r1 C T 16: 44,610,341 (GRCm39) P150S probably damaging Het
Col2a1 G A 15: 97,875,680 (GRCm39) R1202C unknown Het
Copb1 A T 7: 113,846,032 (GRCm39) D179E probably benign Het
Cyp2c29 C T 19: 39,298,229 (GRCm39) T258I possibly damaging Het
Flacc1 T C 1: 58,698,441 (GRCm39) T326A probably benign Het
Gemin5 T C 11: 58,025,629 (GRCm39) Y991C probably damaging Het
Gm4978 T C 9: 69,357,641 (GRCm39) probably benign Het
Gm7732 A T 17: 21,349,649 (GRCm39) noncoding transcript Het
Gucy2f T C X: 140,943,200 (GRCm39) I478V probably benign Het
Herc1 A G 9: 66,307,183 (GRCm39) H1001R probably damaging Het
Igsf10 A G 3: 59,236,662 (GRCm39) V1173A probably benign Het
Kansl1l T C 1: 66,841,127 (GRCm39) T58A probably benign Het
Kcnk13 A T 12: 100,028,010 (GRCm39) K362* probably null Het
Lama1 T G 17: 68,097,830 (GRCm39) L1737V possibly damaging Het
Lama4 A G 10: 38,936,200 (GRCm39) N625S probably benign Het
Loxl1 A T 9: 58,200,921 (GRCm39) C514S probably damaging Het
Muc13 A C 16: 33,628,339 (GRCm39) E363A probably damaging Het
Noxo1 G T 17: 24,919,145 (GRCm39) G289V probably damaging Het
Polr3e G T 7: 120,538,982 (GRCm39) V407F probably damaging Het
Pou5f2 T A 13: 78,173,709 (GRCm39) L217Q probably damaging Het
R3hdm2 A G 10: 127,320,094 (GRCm39) probably benign Het
Rab11fip3 A C 17: 26,213,294 (GRCm39) N793K probably damaging Het
Ranbp3l A G 15: 8,997,925 (GRCm39) R6G possibly damaging Het
Slco1a6 T A 6: 142,042,141 (GRCm39) probably benign Het
Sspo A G 6: 48,428,707 (GRCm39) E374G possibly damaging Het
Tg T C 15: 66,711,210 (GRCm39) Y991H probably damaging Het
Tnc A G 4: 63,933,309 (GRCm39) Y652H probably damaging Het
Trpc4 G A 3: 54,129,770 (GRCm39) V179I possibly damaging Het
Xirp2 A G 2: 67,343,446 (GRCm39) T1896A probably benign Het
Zfhx3 T C 8: 109,527,141 (GRCm39) Y1013H probably damaging Het
Other mutations in Nudt7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01554:Nudt7 APN 8 114,874,625 (GRCm39) splice site probably benign
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
R5562:Nudt7 UTSW 8 114,874,723 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16