Incidental Mutation 'IGL02860:Nudt12'
ID362128
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nudt12
Ensembl Gene ENSMUSG00000024228
Gene Namenudix (nucleoside diphosphate linked moiety X)-type motif 12
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02860
Quality Score
Status
Chromosome17
Chromosomal Location58999618-59013372 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 59010435 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 72 (R72S)
Ref Sequence ENSEMBL: ENSMUSP00000133678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025065] [ENSMUST00000174122]
Predicted Effect probably benign
Transcript: ENSMUST00000025065
AA Change: R72S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000025065
Gene: ENSMUSG00000024228
AA Change: R72S

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: R72S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000133678
Gene: ENSMUSG00000024228
AA Change: R72S

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 A T 9: 90,191,862 M832L probably benign Het
Cars A T 7: 143,586,421 D99E probably damaging Het
Ccdc112 A G 18: 46,287,442 F414L probably benign Het
Chst15 C T 7: 132,269,102 V235I probably benign Het
Dysf G T 6: 84,190,898 probably null Het
Elavl2 T C 4: 91,260,953 D174G probably damaging Het
Gapdhs T A 7: 30,729,883 probably null Het
Gnb1l G A 16: 18,552,535 G259R probably damaging Het
Ighv9-2 T G 12: 114,109,237 I39L possibly damaging Het
Kntc1 T A 5: 123,769,873 N474K possibly damaging Het
Lrrc8c T C 5: 105,579,615 probably benign Het
Lyn C T 4: 3,745,594 A131V possibly damaging Het
Mindy2 T C 9: 70,656,544 E168G probably damaging Het
Morc2a T C 11: 3,661,821 probably benign Het
Naip6 T C 13: 100,300,476 Q513R possibly damaging Het
Nell1 A T 7: 50,848,485 I597F probably damaging Het
Pan2 C T 10: 128,310,735 R414* probably null Het
Rb1 T C 14: 73,206,012 R768G probably damaging Het
Rps6ka2 A G 17: 7,282,856 E440G possibly damaging Het
Serpinb3a C T 1: 107,049,453 probably benign Het
Stx8 C A 11: 67,984,565 T72K probably damaging Het
Tecrl A G 5: 83,354,997 F2L probably benign Het
Tmem263 C T 10: 85,114,552 T69I probably damaging Het
Ttc39b T C 4: 83,263,746 N49D probably benign Het
Ttn A G 2: 76,717,015 L32229P probably damaging Het
Zfp358 T C 8: 3,496,074 F219L probably damaging Het
Other mutations in Nudt12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02904:Nudt12 APN 17 59010352 missense probably benign 0.00
IGL03206:Nudt12 APN 17 59007672 missense probably benign 0.00
R0121:Nudt12 UTSW 17 59007639 missense possibly damaging 0.80
R0673:Nudt12 UTSW 17 59007622 critical splice donor site probably null
R0761:Nudt12 UTSW 17 59011069 missense probably benign 0.00
R1079:Nudt12 UTSW 17 59011037 splice site probably benign
R1277:Nudt12 UTSW 17 59010136 missense probably damaging 0.98
R1815:Nudt12 UTSW 17 59010136 missense probably damaging 0.98
R1816:Nudt12 UTSW 17 59010136 missense probably damaging 0.98
R1834:Nudt12 UTSW 17 59011076 missense probably damaging 1.00
R2296:Nudt12 UTSW 17 59010049 missense possibly damaging 0.85
R2415:Nudt12 UTSW 17 59006608 missense probably damaging 0.99
R5011:Nudt12 UTSW 17 58996504 unclassified probably benign
R5384:Nudt12 UTSW 17 59003439 missense probably damaging 1.00
R5385:Nudt12 UTSW 17 59003439 missense probably damaging 1.00
R5874:Nudt12 UTSW 17 59010284 nonsense probably null
R6108:Nudt12 UTSW 17 59007749 missense probably damaging 1.00
R6477:Nudt12 UTSW 17 59011145 missense probably benign 0.12
R7030:Nudt12 UTSW 17 59003353 missense probably benign 0.22
R7592:Nudt12 UTSW 17 59006594 missense probably benign 0.02
R8252:Nudt12 UTSW 17 59011094 missense probably damaging 0.99
Z1177:Nudt12 UTSW 17 59011071 missense probably benign 0.00
Posted On2015-12-18