Incidental Mutation 'R0121:Nudt12'
ID 21060
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 038406-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0121 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 17
Chromosomal Location 59307104-59320317 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59314634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 317 (S317T)
Ref Sequence ENSEMBL: ENSMUSP00000133678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025065] [ENSMUST00000174122]
AlphaFold Q9DCN1
Predicted Effect possibly damaging
Transcript: ENSMUST00000025065
AA Change: S317T

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025065
Gene: ENSMUSG00000024228
AA Change: S317T

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 possibly damaging
Transcript: ENSMUST00000174122
AA Change: S317T

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133678
Gene: ENSMUSG00000024228
AA Change: S317T

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 0.0799 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 89.8%
Validation Efficiency 100% (63/63)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,298,945 (GRCm39) probably null Het
Adgra3 T C 5: 50,183,128 (GRCm39) probably benign Het
Anxa7 A T 14: 20,510,227 (GRCm39) L386M probably damaging Het
Ap2b1 A G 11: 83,212,793 (GRCm39) M58V possibly damaging Het
Arfip2 A G 7: 105,285,578 (GRCm39) L224P probably damaging Het
Arhgap20 A G 9: 51,750,251 (GRCm39) N373S possibly damaging Het
Asph T C 4: 9,635,918 (GRCm39) D73G probably damaging Het
Atp1a2 T A 1: 172,116,909 (GRCm39) E236V probably damaging Het
Atp2a1 A G 7: 126,057,116 (GRCm39) S170P probably damaging Het
Atp4a C G 7: 30,419,526 (GRCm39) R659G probably benign Het
B4galnt3 C T 6: 120,191,999 (GRCm39) R578H probably benign Het
Ccdc178 C A 18: 21,978,081 (GRCm39) probably null Het
Ccnh T A 13: 85,354,312 (GRCm39) M252K probably damaging Het
Clec4b2 A G 6: 123,181,131 (GRCm39) D172G probably benign Het
Col1a1 A G 11: 94,828,895 (GRCm39) E79G unknown Het
Csf3r A G 4: 125,923,642 (GRCm39) N51D probably benign Het
Cul7 C T 17: 46,974,299 (GRCm39) L1489F probably damaging Het
Cyp2b13 G A 7: 25,786,010 (GRCm39) C309Y probably benign Het
Dync2h1 A T 9: 7,001,327 (GRCm39) probably benign Het
Edn1 A G 13: 42,458,741 (GRCm39) T135A probably benign Het
Ephb2 A G 4: 136,498,368 (GRCm39) I237T probably damaging Het
Fam111a T A 19: 12,561,444 (GRCm39) F12L probably benign Het
Foxi2 C A 7: 135,013,640 (GRCm39) A290E probably benign Het
Gabra6 A G 11: 42,205,798 (GRCm39) S353P probably benign Het
Gm4847 T C 1: 166,469,857 (GRCm39) D72G probably damaging Het
Grhl3 A G 4: 135,279,860 (GRCm39) I398T probably damaging Het
Gtdc1 T C 2: 44,455,550 (GRCm39) probably benign Het
Kel A C 6: 41,678,998 (GRCm39) probably benign Het
L3mbtl3 C T 10: 26,189,768 (GRCm39) D499N unknown Het
Lama1 T A 17: 68,105,508 (GRCm39) probably benign Het
Mamdc2 T A 19: 23,288,223 (GRCm39) E605V probably benign Het
Nolc1 G A 19: 46,069,817 (GRCm39) probably benign Het
Optn C T 2: 5,028,926 (GRCm39) G526R probably damaging Het
Or4k35 A T 2: 111,100,659 (GRCm39) C18S probably benign Het
Or5w20 A G 2: 87,727,434 (GRCm39) K297R possibly damaging Het
Or8g23 T A 9: 38,971,056 (GRCm39) K302M probably damaging Het
Or8k38 A G 2: 86,488,163 (GRCm39) V213A probably benign Het
Pbld1 C T 10: 62,907,282 (GRCm39) probably benign Het
Prl8a9 T G 13: 27,744,589 (GRCm39) N84T probably benign Het
Psph T A 5: 129,868,633 (GRCm39) probably benign Het
Sbf2 A G 7: 110,088,426 (GRCm39) probably null Het
Senp6 A G 9: 80,023,952 (GRCm39) D405G probably benign Het
Serpinb1a T A 13: 33,032,754 (GRCm39) probably benign Het
Slc2a9 T C 5: 38,556,086 (GRCm39) I287V probably benign Het
Sptbn2 T C 19: 4,795,321 (GRCm39) F1593S probably damaging Het
Tcf21 T C 10: 22,695,706 (GRCm39) T33A probably benign Het
Tdrd3 A T 14: 87,776,915 (GRCm39) Q727L probably damaging Het
Tecpr1 C T 5: 144,147,017 (GRCm39) E450K probably benign Het
Tenm3 G A 8: 48,795,694 (GRCm39) T532I probably damaging Het
Tg A T 15: 66,612,630 (GRCm39) Q396L probably benign Het
Tmtc3 A G 10: 100,294,770 (GRCm39) probably benign Het
Twnk T C 19: 44,997,704 (GRCm39) probably benign Het
Ubac1 A G 2: 25,898,871 (GRCm39) probably null Het
Ubn2 T C 6: 38,429,793 (GRCm39) probably benign Het
Zfp944 T A 17: 22,558,249 (GRCm39) T333S 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
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
Predicted Primers PCR Primer
(F):5'- CCAAGGCTGGGTAATGTCTCCAAC -3'
(R):5'- GGTGGTAGCTCAAGCAAGATCAGTG -3'

Sequencing Primer
(F):5'- cagacaggtcagtggtgaag -3'
(R):5'- AGCAAGATCAGTGCTTGCC -3'
Posted On 2013-04-11