Incidental Mutation 'R6108:Nudt12'
ID 485630
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 044258-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6108 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 59307104-59320317 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 59314744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 280 (R280L)
Ref Sequence ENSEMBL: ENSMUSP00000133678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025065] [ENSMUST00000174122]
AlphaFold Q9DCN1
Predicted Effect probably damaging
Transcript: ENSMUST00000025065
AA Change: R280L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025065
Gene: ENSMUSG00000024228
AA Change: R280L

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 noncoding transcript
Transcript: ENSMUST00000174108
Predicted Effect probably damaging
Transcript: ENSMUST00000174122
AA Change: R280L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133678
Gene: ENSMUSG00000024228
AA Change: R280L

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 0.3375 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 96% (53/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,539,814 (GRCm39) F5702L probably damaging Het
Aptx G A 4: 40,694,986 (GRCm39) Q117* probably null Het
Axin1 T A 17: 26,362,214 (GRCm39) M186K probably damaging Het
Btbd2 A T 10: 80,481,365 (GRCm39) L249Q probably damaging Het
Caprin1 C T 2: 103,606,362 (GRCm39) V293I possibly damaging Het
Ccdc136 C A 6: 29,412,449 (GRCm39) H334Q probably benign Het
Ccdc180 A G 4: 45,911,389 (GRCm39) N568S possibly damaging Het
Cenpf A T 1: 189,394,210 (GRCm39) F515L probably benign Het
Chrm2 T A 6: 36,500,230 (GRCm39) V29E probably damaging Het
Cnot1 A G 8: 96,457,048 (GRCm39) L1956P probably damaging Het
Cyp2d22 T C 15: 82,256,106 (GRCm39) K176R possibly damaging Het
Dnah7a A T 1: 53,496,004 (GRCm39) I3151N probably damaging Het
Dsg1a T A 18: 20,473,304 (GRCm39) D792E probably benign Het
Fam167b A T 4: 129,472,101 (GRCm39) L23* probably null Het
Fermt3 C A 19: 6,991,782 (GRCm39) R143L probably benign Het
Gfm2 A G 13: 97,285,930 (GRCm39) I140V possibly damaging Het
Gna14 A G 19: 16,580,707 (GRCm39) T182A probably damaging Het
Hmcn1 A G 1: 150,506,978 (GRCm39) V3738A possibly damaging Het
Hspa4 C T 11: 53,152,539 (GRCm39) G810D probably damaging Het
Igf2bp3 A G 6: 49,094,308 (GRCm39) I154T probably damaging Het
Il1rap G A 16: 26,541,457 (GRCm39) S566N probably damaging Het
Kcnb1 G A 2: 166,947,060 (GRCm39) T596M probably damaging Het
Kcnn1 A C 8: 71,307,800 (GRCm39) S81A probably benign Het
Lmod1 G A 1: 135,291,849 (GRCm39) G235R probably benign Het
Mei1 A T 15: 81,959,389 (GRCm39) R185S possibly damaging Het
Mmrn1 G A 6: 60,952,960 (GRCm39) V414M possibly damaging Het
Mon2 C A 10: 122,868,600 (GRCm39) M484I probably benign Het
Nae1 A T 8: 105,254,034 (GRCm39) D99E probably benign Het
Nsun7 T A 5: 66,453,142 (GRCm39) I619N probably damaging Het
Or1l4 T C 2: 37,091,778 (GRCm39) V175A possibly damaging Het
P2ry1 T A 3: 60,911,596 (GRCm39) I245N probably damaging Het
Plch1 C T 3: 63,609,444 (GRCm39) R912H probably damaging Het
Plek T A 11: 16,940,058 (GRCm39) Y217F probably damaging Het
Plpp1 A T 13: 113,003,399 (GRCm39) I208F possibly damaging Het
Ptges3-ps C T 6: 85,821,537 (GRCm39) noncoding transcript Het
Ptprf A G 4: 118,080,453 (GRCm39) L1267P probably benign Het
Ptprz1 A T 6: 23,045,658 (GRCm39) S2143C probably damaging Het
Scn9a T C 2: 66,314,393 (GRCm39) D1764G probably damaging Het
Serpinb5 T A 1: 106,809,458 (GRCm39) L288Q probably damaging Het
Slc6a20b T G 9: 123,425,251 (GRCm39) M539L probably benign Het
Slfnl1 A G 4: 120,390,558 (GRCm39) T70A probably benign Het
Smtn C A 11: 3,479,608 (GRCm39) L486F probably damaging Het
Sptbn2 G A 19: 4,781,420 (GRCm39) probably null Het
Tas2r144 C A 6: 42,192,691 (GRCm39) L144I possibly damaging Het
Tjp3 C T 10: 81,116,980 (GRCm39) R183K probably benign Het
Tnip3 A G 6: 65,502,395 (GRCm39) probably null Het
Tspan12 T A 6: 21,772,770 (GRCm39) M212L probably benign Het
Ttn T A 2: 76,708,385 (GRCm39) probably benign Het
Vmn1r71 T C 7: 10,482,545 (GRCm39) M48V probably benign Het
Vmn2r10 A G 5: 109,143,667 (GRCm39) F761S probably damaging Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Wdr72 A G 9: 74,058,950 (GRCm39) T348A probably damaging Het
Xrn1 A T 9: 95,856,480 (GRCm39) L333F possibly 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
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
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'- CTCGCTTTGAAATGCTGCCC -3'
(R):5'- TGGCTACACTAATCTAGCTTTGTG -3'

Sequencing Primer
(F):5'- TTGCAGCTCTTACAGAGGAC -3'
(R):5'- CTGACCAAGCAGTGATTC -3'
Posted On 2017-08-16