Incidental Mutation 'IGL03206:Nudt12'
ID413161
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 #IGL03206
Quality Score
Status
Chromosome17
Chromosomal Location58999618-59013372 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 59007672 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 306 (T306A)
Ref Sequence ENSEMBL: ENSMUSP00000133678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025065] [ENSMUST00000174122]
Predicted Effect probably benign
Transcript: ENSMUST00000025065
AA Change: T306A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000025065
Gene: ENSMUSG00000024228
AA Change: T306A

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 benign
Transcript: ENSMUST00000174122
AA Change: T306A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000133678
Gene: ENSMUSG00000024228
AA Change: T306A

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,553,276 E939D possibly damaging Het
Aloxe3 C A 11: 69,129,646 A172D possibly damaging Het
Bscl2 G A 19: 8,843,089 R158Q probably damaging Het
Cdon A G 9: 35,503,306 D1159G probably benign Het
Cep164 A G 9: 45,802,725 V203A probably benign Het
Chml T C 1: 175,687,737 D206G probably benign Het
E2f6 T C 12: 16,822,089 probably benign Het
Emilin3 T A 2: 160,910,799 Y77F probably damaging Het
Fbxw15 A T 9: 109,565,362 N128K possibly damaging Het
Gjd2 A G 2: 114,011,723 L91P probably damaging Het
Gm12830 T A 4: 114,845,117 probably benign Het
Gpr161 T A 1: 165,321,649 L529Q probably damaging Het
Hoxd10 T A 2: 74,692,432 Y151* probably null Het
Iars A G 13: 49,693,070 D215G possibly damaging Het
Ift140 T C 17: 25,092,826 V1241A probably damaging Het
Kdm5b A G 1: 134,627,317 N1321S probably benign Het
Lrat T A 3: 82,903,349 I122F probably damaging Het
Myl10 C T 5: 136,697,942 Q106* probably null Het
Ncapd2 A T 6: 125,171,697 Y1018N possibly damaging Het
Ndrg1 C T 15: 66,943,087 W172* probably null Het
Nphs2 T C 1: 156,326,131 M264T probably damaging Het
Nrxn3 A T 12: 89,260,508 R677S possibly damaging Het
Numb A G 12: 83,825,296 probably benign Het
Olfr1385 A T 11: 49,494,709 M59L probably benign Het
Olfr482 C T 7: 108,095,054 C172Y probably damaging Het
Olfr63 T A 17: 33,268,751 I9K possibly damaging Het
Pbld2 T A 10: 63,047,482 D94E probably benign Het
Pkd1l3 C A 8: 109,623,713 Q397K probably benign Het
Ppp4r3a A T 12: 101,058,619 L207H probably damaging Het
Ranbp2 T A 10: 58,465,547 I674N probably damaging Het
Retnlg G T 16: 48,874,292 C101F probably damaging Het
Rif1 T A 2: 52,103,622 I849N probably damaging Het
Serpinb9d T C 13: 33,198,031 I161T possibly damaging Het
Slc17a6 T C 7: 51,666,023 probably benign Het
Smg8 A C 11: 87,085,988 probably null Het
Spata31d1c C A 13: 65,035,593 N316K probably benign Het
Tlr1 A G 5: 64,925,057 S726P probably damaging Het
Trim69 A C 2: 122,173,155 D195A probably benign Het
Ttc16 T G 2: 32,771,885 probably null Het
Usp53 T A 3: 122,953,183 M405L probably benign Het
Ywhag G A 5: 135,911,060 R227* probably null Het
Zfp335 G T 2: 164,892,681 probably benign Het
Zfp607a T C 7: 27,877,823 I106T possibly damaging Het
Zfp959 T C 17: 55,897,613 S214P possibly damaging Het
Zfyve9 T C 4: 108,689,209 M868V possibly damaging Het
Other mutations in Nudt12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02860:Nudt12 APN 17 59010435 missense probably benign 0.01
IGL02904:Nudt12 APN 17 59010352 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 On2016-08-02