Incidental Mutation 'R0761:Nudt12'
ID 70111
Institutional Source Beutler Lab
Gene Symbol Nudt12
Ensembl Gene ENSMUSG00000024228
Gene Name nudix hydrolase 12
Synonyms nudix (nucleoside diphosphate linked moiety X)-type motif 12, 0610016O18Rik
MMRRC Submission 038941-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0761 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 59307104-59320317 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59318064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 60 (D60E)
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: D60E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000025065
Gene: ENSMUSG00000024228
AA Change: D60E

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: D60E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000133678
Gene: ENSMUSG00000024228
AA Change: D60E

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.7%
Validation Efficiency 100% (51/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,833 (GRCm39) Y133C probably benign Het
Adcy5 G A 16: 35,091,195 (GRCm39) probably benign Het
Asb17 A G 3: 153,550,052 (GRCm39) K28R probably damaging Het
Bbs10 G T 10: 111,135,244 (GRCm39) C119F probably damaging Het
Camk2g G A 14: 20,816,280 (GRCm39) Q119* probably null Het
Cdh18 A T 15: 23,226,838 (GRCm39) I46L possibly damaging Het
Cimip2a T C 2: 25,110,135 (GRCm39) probably benign Het
Clmn T A 12: 104,747,817 (GRCm39) N577Y probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crocc T C 4: 140,774,387 (GRCm39) E63G probably benign Het
Crocc T C 4: 140,757,087 (GRCm39) T965A probably benign Het
Cryzl2 A G 1: 157,293,294 (GRCm39) I132V probably benign Het
Csgalnact2 T C 6: 118,103,073 (GRCm39) probably benign Het
Ctr9 T C 7: 110,645,479 (GRCm39) S569P probably damaging Het
Cul3 A G 1: 80,255,203 (GRCm39) probably benign Het
Dcp2 G A 18: 44,543,300 (GRCm39) S286N probably benign Het
Dgkz C T 2: 91,775,696 (GRCm39) R189H probably benign Het
Dst A G 1: 34,221,848 (GRCm39) T2551A probably benign Het
Kcna4 T A 2: 107,126,417 (GRCm39) S384T probably benign Het
Klhl17 T C 4: 156,317,204 (GRCm39) probably null Het
Kmt2e C A 5: 23,708,032 (GRCm39) S1865* probably null Het
L3mbtl1 G A 2: 162,807,967 (GRCm39) R534H probably damaging Het
Lmnb2 A T 10: 80,742,088 (GRCm39) M1K probably null Het
Lrp1b T C 2: 41,075,947 (GRCm39) D1784G probably damaging Het
Lrrc34 A G 3: 30,685,425 (GRCm39) probably null Het
Megf10 C A 18: 57,421,048 (GRCm39) Y895* probably null Het
Mesd G T 7: 83,544,951 (GRCm39) A143S probably damaging Het
Mfap3l G T 8: 61,124,615 (GRCm39) V286L possibly damaging Het
Mroh2a G A 1: 88,171,672 (GRCm39) R770Q probably damaging Het
Nek1 T A 8: 61,542,489 (GRCm39) D717E probably benign Het
Nup205 C T 6: 35,173,363 (GRCm39) probably benign Het
Or11g27 T C 14: 50,771,159 (GRCm39) S97P possibly damaging Het
Or2j3 A T 17: 38,616,282 (GRCm39) H23Q probably benign Het
Or4a75 T C 2: 89,448,179 (GRCm39) D119G probably damaging Het
Or5w19 C T 2: 87,698,880 (GRCm39) P182S possibly damaging Het
Pacs2 T A 12: 113,023,688 (GRCm39) probably benign Het
Pcdha9 T A 18: 37,133,016 (GRCm39) L695* probably null Het
Pira12 A T 7: 3,896,978 (GRCm39) probably null Het
Pkd1l1 A G 11: 8,804,375 (GRCm39) S1739P probably damaging Het
Polr1e C A 4: 45,027,392 (GRCm39) D207E probably damaging Het
Polr3f T A 2: 144,376,327 (GRCm39) V142E probably damaging Het
Psma6 T A 12: 55,459,127 (GRCm39) W170R possibly damaging Het
Rev3l T C 10: 39,750,191 (GRCm39) Y3114H probably benign Het
Rps6ka5 C T 12: 100,537,141 (GRCm39) A530T probably damaging Het
Simc1 T C 13: 54,674,387 (GRCm39) Y912H probably damaging Het
Tnfrsf1b T C 4: 144,942,670 (GRCm39) D371G possibly damaging Het
Trank1 T C 9: 111,195,681 (GRCm39) V1235A probably damaging Het
Ttn T C 2: 76,577,102 (GRCm39) E24597G probably damaging Het
Ubr2 G A 17: 47,294,242 (GRCm39) P297L probably damaging Het
Unc5d A T 8: 29,186,560 (GRCm39) probably null Het
Xpo4 A G 14: 57,850,840 (GRCm39) F355L probably damaging Het
Other mutations in Nudt12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02860:Nudt12 APN 17 59,317,430 (GRCm39) missense probably benign 0.01
IGL02904:Nudt12 APN 17 59,317,347 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- TGCTTTAGTGACAAATCAGGCCCC -3'
(R):5'- TGCTGCCTTTCCAAGATCAGCATC -3'

Sequencing Primer
(F):5'- GGCCCCCTTTCATATAATAAACTGG -3'
(R):5'- CAGGAATACTCAGCCATTCTCCA -3'
Posted On 2013-09-30