Incidental Mutation 'R8245:Nudt7'
ID 640820
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 067673-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R8245 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 114860314-114881471 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114863080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 37 (N37I)
Ref Sequence ENSEMBL: ENSMUSP00000104737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066514] [ENSMUST00000073521] [ENSMUST00000109109] [ENSMUST00000134593] [ENSMUST00000147605]
AlphaFold Q99P30
Predicted Effect probably benign
Transcript: ENSMUST00000066514
SMART Domains Protein: ENSMUSP00000065791
Gene: ENSMUSG00000031767

DomainStartEndE-ValueType
Pfam:NUDIX 15 140 4.1e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000073521
AA Change: N13I

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000073213
Gene: ENSMUSG00000031767
AA Change: N13I

DomainStartEndE-ValueType
Pfam:NUDIX 38 168 4.4e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109109
AA Change: N37I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104737
Gene: ENSMUSG00000031767
AA Change: N37I

DomainStartEndE-ValueType
Pfam:NUDIX 62 193 3.2e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134593
AA Change: N13I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116868
Gene: ENSMUSG00000031767
AA Change: N13I

DomainStartEndE-ValueType
Pfam:NUDIX 38 146 4.2e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147605
AA Change: N13I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114598
Gene: ENSMUSG00000031767
AA Change: N13I

DomainStartEndE-ValueType
Pfam:NUDIX 38 107 1.2e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (63/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,539,870 (GRCm39) probably null Het
Adam4 A T 12: 81,466,657 (GRCm39) C655S probably damaging Het
Adamts13 A C 2: 26,880,568 (GRCm39) D717A probably damaging Het
Atf7ip2 A G 16: 10,019,262 (GRCm39) N30S possibly damaging Het
Bmp8b T C 4: 123,008,532 (GRCm39) V166A probably benign Het
Bpifb9a G A 2: 154,104,646 (GRCm39) G261R probably benign Het
Cdipt G T 7: 126,578,732 (GRCm39) M174I probably benign Het
Cep128 T C 12: 90,966,419 (GRCm39) T1063A probably benign Het
Ciao1 A G 2: 127,088,404 (GRCm39) Y140H probably damaging Het
Cngb1 A G 8: 96,024,408 (GRCm39) S217P unknown Het
Cnot2 T A 10: 116,346,294 (GRCm39) I103F probably benign Het
Col27a1 T G 4: 63,144,040 (GRCm39) V576G probably damaging Het
Dapk1 T A 13: 60,878,710 (GRCm39) H566Q probably benign Het
Dhrs2 T A 14: 55,478,637 (GRCm39) C261S possibly damaging Het
Ercc4 G C 16: 12,948,001 (GRCm39) R406P probably benign Het
Fer1l4 A G 2: 155,886,934 (GRCm39) probably null Het
Fhod3 T A 18: 25,246,673 (GRCm39) F1293Y probably damaging Het
Fsip1 T A 2: 118,075,359 (GRCm39) K218M unknown Het
Fsip2 G T 2: 82,811,346 (GRCm39) S2555I possibly damaging Het
Gfpt2 A G 11: 49,714,785 (GRCm39) K358E probably benign Het
Gm9637 A T 14: 19,402,598 (GRCm38) V1D noncoding transcript Het
H2-M10.6 T C 17: 37,124,155 (GRCm39) probably null Het
Hand2 A G 8: 57,774,994 (GRCm39) Y18C probably damaging Het
Helz2 A T 2: 180,879,895 (GRCm39) V607E probably damaging Het
Hps5 G A 7: 46,418,485 (GRCm39) R862* probably null Het
Ildr1 A G 16: 36,529,883 (GRCm39) D90G probably damaging Het
Ints12 A G 3: 132,814,633 (GRCm39) N280S probably benign Het
Ippk C T 13: 49,599,818 (GRCm39) P226S Het
Itpr2 T A 6: 146,274,604 (GRCm39) K859N probably damaging Het
Lhx9 G T 1: 138,766,179 (GRCm39) A212D probably benign Het
Myo6 C T 9: 80,162,229 (GRCm39) T322I unknown Het
Ndufaf4 A G 4: 24,898,648 (GRCm39) D71G probably benign Het
Nrp1 T A 8: 129,214,434 (GRCm39) S641T probably benign Het
Obscn T A 11: 58,913,066 (GRCm39) I271F Het
Or2ag16 T C 7: 106,352,374 (GRCm39) T74A probably benign Het
Or4d2b G A 11: 87,780,443 (GRCm39) S93F probably damaging Het
Or6c5b T C 10: 129,245,975 (GRCm39) S247P probably damaging Het
Or7g18 T C 9: 18,787,126 (GRCm39) Y168H probably benign Het
Or9g4b A G 2: 85,616,119 (GRCm39) E88G probably benign Het
Oxa1l T C 14: 54,605,274 (GRCm39) S317P probably damaging Het
Poglut2 A T 1: 44,156,226 (GRCm39) H120Q probably benign Het
Polr2a C T 11: 69,630,779 (GRCm39) R1213H probably damaging Het
Postn A T 3: 54,283,468 (GRCm39) S516C probably null Het
Rabep2 A G 7: 126,039,580 (GRCm39) T336A possibly damaging Het
Ralgapb G A 2: 158,285,256 (GRCm39) C585Y probably damaging Het
Rexo4 A G 2: 26,850,350 (GRCm39) S276P probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCTGCGGCGGC 7: 97,229,122 (GRCm39) probably benign Het
Sall3 G A 18: 81,016,969 (GRCm39) P320S probably benign Het
Sipa1l3 A G 7: 29,099,789 (GRCm39) L160P probably damaging Het
Sphkap A G 1: 83,256,492 (GRCm39) F419S probably benign Het
Stag1 C A 9: 100,811,946 (GRCm39) T808K probably benign Het
Stam2 G T 2: 52,604,931 (GRCm39) N201K possibly damaging Het
Stat1 G A 1: 52,194,178 (GRCm39) R704Q probably benign Het
Tacc2 A G 7: 130,331,303 (GRCm39) D2236G probably damaging Het
Thsd7a T A 6: 12,379,592 (GRCm39) Y944F Het
Tmem225 G T 9: 40,061,955 (GRCm39) V190F probably damaging Het
Tonsl A T 15: 76,521,022 (GRCm39) V400D probably benign Het
Tpp2 G A 1: 44,022,712 (GRCm39) G971D probably damaging Het
Trh C T 6: 92,220,050 (GRCm39) V89I probably benign Het
Txlnb A G 10: 17,717,205 (GRCm39) D404G probably damaging Het
Uggt1 A G 1: 36,204,645 (GRCm39) V990A probably damaging Het
Vmn1r179 T A 7: 23,628,396 (GRCm39) Y196N possibly damaging Het
Vmn2r8 T C 5: 108,945,936 (GRCm39) D557G probably damaging Het
Zfp516 G T 18: 82,974,458 (GRCm39) G219C probably damaging 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
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
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'- TGTCTTGCCAACACATGCC -3'
(R):5'- AGAGTGTTTTGTCACCCACCTTG -3'

Sequencing Primer
(F):5'- TTCTGCCAGGTTATTGGAAAAC -3'
(R):5'- TTGTCTGAGCGGACCGTGAAC -3'
Posted On 2020-07-28