Incidental Mutation 'IGL02904:Nudt12'
ID 363732
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nudt12
Ensembl Gene ENSMUSG00000024228
Gene Name nudix hydrolase 12
Synonyms nudix (nucleoside diphosphate linked moiety X)-type motif 12, 0610016O18Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02904
Quality Score
Status
Chromosome 17
Chromosomal Location 59307104-59320317 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59317347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 100 (N100I)
Ref Sequence ENSEMBL: ENSMUSP00000133678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025065] [ENSMUST00000174122]
AlphaFold Q9DCN1
Predicted Effect probably benign
Transcript: ENSMUST00000025065
AA Change: N100I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000025065
Gene: ENSMUSG00000024228
AA Change: N100I

DomainStartEndE-ValueType
ANK 11 40 2.43e3 SMART
ANK 45 74 1.1e-6 SMART
ANK 78 108 2.55e2 SMART
Pfam:NUDIX-like 147 277 3.2e-10 PFAM
Pfam:zf-NADH-PPase 279 309 2.7e-10 PFAM
Pfam:NUDIX 322 447 8.1e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152750
Predicted Effect probably benign
Transcript: ENSMUST00000174122
AA Change: N100I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000133678
Gene: ENSMUSG00000024228
AA Change: N100I

DomainStartEndE-ValueType
ANK 11 40 2.43e3 SMART
ANK 45 74 1.1e-6 SMART
ANK 78 108 2.55e2 SMART
Pfam:NUDIX-like 147 277 2.4e-9 PFAM
Pfam:zf-NADH-PPase 279 311 5.9e-11 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,620,990 (GRCm39) S564P probably damaging Het
A1cf A C 19: 31,912,206 (GRCm39) K432N probably damaging Het
Acp7 A T 7: 28,307,428 (GRCm39) D476E probably benign Het
Aqp9 T A 9: 71,045,430 (GRCm39) I60F probably damaging Het
B2m A C 2: 121,981,642 (GRCm39) probably benign Het
B3galt1 T A 2: 67,949,089 (GRCm39) V268E probably damaging Het
Cacna1a T C 8: 85,306,149 (GRCm39) L1299P probably damaging Het
Cemip2 G A 19: 21,801,207 (GRCm39) D775N possibly damaging Het
Ces2e C T 8: 105,657,970 (GRCm39) P356L probably benign Het
Crmp1 A T 5: 37,446,262 (GRCm39) K639N possibly damaging Het
Ddx17 G A 15: 79,414,638 (GRCm39) R510* probably null Het
Dner C T 1: 84,512,665 (GRCm39) V301M probably damaging Het
Efr3b T G 12: 4,034,583 (GRCm39) I196L probably damaging Het
Fat1 T C 8: 45,493,719 (GRCm39) V3955A probably damaging Het
Gid4 T C 11: 60,308,561 (GRCm39) I27T probably benign Het
Glis3 A G 19: 28,335,352 (GRCm39) F571L possibly damaging Het
Gm4950 T C 18: 51,998,803 (GRCm39) I51V probably benign Het
Gm5592 T C 7: 40,937,810 (GRCm39) L364P probably damaging Het
Gucy2d G A 7: 98,111,396 (GRCm39) probably null Het
Kpna6 A G 4: 129,544,480 (GRCm39) I411T probably benign Het
Lcn11 A G 2: 25,669,278 (GRCm39) D145G probably null Het
Lrrc37 A C 11: 103,507,187 (GRCm39) probably benign Het
Med12 A G X: 100,337,784 (GRCm39) probably null Het
Mtor A G 4: 148,536,851 (GRCm39) K42E possibly damaging Het
Mtor A G 4: 148,576,069 (GRCm39) probably benign Het
Mybpc2 T C 7: 44,171,765 (GRCm39) D55G probably benign Het
Myo1f T A 17: 33,804,632 (GRCm39) C445* probably null Het
Naca C T 10: 127,879,159 (GRCm39) probably benign Het
Nlgn2 T C 11: 69,716,666 (GRCm39) Y625C possibly damaging Het
Nlrp9c A T 7: 26,074,715 (GRCm39) C827S probably damaging Het
Or2t43 T A 11: 58,457,623 (GRCm39) T183S possibly damaging Het
Or5g9 T C 2: 85,552,099 (GRCm39) S117P probably damaging Het
Or7d10 A T 9: 19,832,393 (GRCm39) D296V probably damaging Het
Or8s5 A T 15: 98,238,729 (GRCm39) L31Q probably null Het
Picalm G A 7: 89,825,619 (GRCm39) probably benign Het
Pkd1l1 A G 11: 8,818,450 (GRCm39) probably benign Het
Scube3 T C 17: 28,386,574 (GRCm39) V831A probably benign Het
Slco5a1 A G 1: 12,991,321 (GRCm39) I456T probably damaging Het
Snx3 A G 10: 42,410,690 (GRCm39) H110R probably damaging Het
Spef2 T C 15: 9,679,432 (GRCm39) D635G probably damaging Het
St3gal5 A T 6: 72,124,108 (GRCm39) I212L possibly damaging Het
Syvn1 T A 19: 6,099,845 (GRCm39) Y192* probably null Het
Tmtc1 A G 6: 148,150,980 (GRCm39) probably benign Het
Trappc14 C T 5: 138,258,864 (GRCm39) V232I probably benign Het
Trip11 T G 12: 101,853,097 (GRCm39) E499D probably damaging Het
Ttn A T 2: 76,562,375 (GRCm39) N28823K probably damaging Het
Unc13c C A 9: 73,388,349 (GRCm39) G2146* probably null Het
Ush2a G T 1: 188,638,703 (GRCm39) V4038L probably benign Het
Zc3h7a T G 16: 10,968,530 (GRCm39) D483A probably damaging Het
Zfyve19 T C 2: 119,040,953 (GRCm39) probably benign Het
Other mutations in Nudt12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02860:Nudt12 APN 17 59,317,430 (GRCm39) missense probably benign 0.01
IGL03206:Nudt12 APN 17 59,314,667 (GRCm39) missense probably benign 0.00
R0121:Nudt12 UTSW 17 59,314,634 (GRCm39) missense possibly damaging 0.80
R0673:Nudt12 UTSW 17 59,314,617 (GRCm39) critical splice donor site probably null
R0761:Nudt12 UTSW 17 59,318,064 (GRCm39) missense probably benign 0.00
R1079:Nudt12 UTSW 17 59,318,032 (GRCm39) splice site probably benign
R1277:Nudt12 UTSW 17 59,317,131 (GRCm39) missense probably damaging 0.98
R1815:Nudt12 UTSW 17 59,317,131 (GRCm39) missense probably damaging 0.98
R1816:Nudt12 UTSW 17 59,317,131 (GRCm39) missense probably damaging 0.98
R1834:Nudt12 UTSW 17 59,318,071 (GRCm39) missense probably damaging 1.00
R2296:Nudt12 UTSW 17 59,317,044 (GRCm39) missense possibly damaging 0.85
R2415:Nudt12 UTSW 17 59,313,603 (GRCm39) missense probably damaging 0.99
R5011:Nudt12 UTSW 17 59,303,499 (GRCm39) unclassified probably benign
R5384:Nudt12 UTSW 17 59,310,434 (GRCm39) missense probably damaging 1.00
R5385:Nudt12 UTSW 17 59,310,434 (GRCm39) missense probably damaging 1.00
R5874:Nudt12 UTSW 17 59,317,279 (GRCm39) nonsense probably null
R6108:Nudt12 UTSW 17 59,314,744 (GRCm39) missense probably damaging 1.00
R6477:Nudt12 UTSW 17 59,318,140 (GRCm39) missense probably benign 0.12
R7030:Nudt12 UTSW 17 59,310,348 (GRCm39) missense probably benign 0.22
R7592:Nudt12 UTSW 17 59,313,589 (GRCm39) missense probably benign 0.02
R8252:Nudt12 UTSW 17 59,318,089 (GRCm39) missense probably damaging 0.99
R9661:Nudt12 UTSW 17 59,316,981 (GRCm39) missense probably benign 0.19
Z1177:Nudt12 UTSW 17 59,318,066 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18