Incidental Mutation 'IGL03059:Nadk'
ID409355
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nadk
Ensembl Gene ENSMUSG00000029063
Gene NameNAD kinase
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.947) question?
Stock #IGL03059
Quality Score
Status
Chromosome4
Chromosomal Location155562378-155591001 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 155586796 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 143 (E143G)
Ref Sequence ENSEMBL: ENSMUSP00000101237 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030939] [ENSMUST00000105612] [ENSMUST00000105613]
Predicted Effect probably benign
Transcript: ENSMUST00000030939
AA Change: E219G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000030939
Gene: ENSMUSG00000029063
AA Change: E219G

DomainStartEndE-ValueType
Pfam:NAD_kinase 106 406 2.5e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105612
AA Change: E143G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000101237
Gene: ENSMUSG00000029063
AA Change: E143G

DomainStartEndE-ValueType
Pfam:NAD_kinase 30 330 7.6e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105613
AA Change: E219G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000101238
Gene: ENSMUSG00000029063
AA Change: E219G

DomainStartEndE-ValueType
Pfam:NAD_kinase 106 406 1.4e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152297
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NADK catalyzes the transfer of a phosphate group from ATP to NAD to generate NADP, which in its reduced form acts as an electron donor for biosynthetic reactions (Lerner et al., 2001 [PubMed 11594753]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg T C 16: 22,899,005 V244A possibly damaging Het
Ccdc187 C A 2: 26,294,241 R48M probably null Het
Cnga2 G A X: 72,008,272 R251H probably damaging Het
Cop1 A C 1: 159,306,709 K174Q probably damaging Het
Cul9 T C 17: 46,538,987 D512G probably damaging Het
Flt4 G A 11: 49,642,307 A1140T probably damaging Het
Galnt3 C T 2: 66,093,610 R438H probably damaging Het
Gatm G A 2: 122,609,700 A86V probably damaging Het
Klhl28 C T 12: 64,951,566 A385T probably benign Het
Klhl40 T A 9: 121,778,137 V121E probably damaging Het
L1cam T A X: 73,867,024 H30L probably benign Het
Lss A T 10: 76,532,026 probably benign Het
Mrnip A T 11: 50,199,769 Q253H probably damaging Het
Mroh9 A T 1: 163,024,636 F828Y possibly damaging Het
Mst1 T C 9: 108,084,813 C668R probably damaging Het
Nap1l4 C T 7: 143,527,165 probably null Het
Nme8 A G 13: 19,652,244 I254T possibly damaging Het
Olfr1382 A G 11: 49,535,194 Y3C probably benign Het
Olfr295 A G 7: 86,585,571 I99V probably benign Het
Olfr374 T A 8: 72,109,998 L144Q probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pkd1l3 C T 8: 109,648,367 L1491F probably damaging Het
Plec G T 15: 76,175,768 T3488N probably damaging Het
Plk2 T G 13: 110,399,134 S497A probably benign Het
Polr1a G A 6: 71,936,512 V617I probably benign Het
Prelid3a C A 18: 67,476,839 Y112* probably null Het
Rnf113a2 C A 12: 84,417,476 S47R possibly damaging Het
Rtel1 A G 2: 181,350,183 N410D probably benign Het
Ryr3 C T 2: 112,800,047 A2140T probably damaging Het
Slc22a29 A G 19: 8,169,990 L336P probably benign Het
Sphkap T A 1: 83,257,242 Q1621L probably damaging Het
Svs1 A T 6: 48,987,415 Y119F probably benign Het
Tcrg-C1 A T 13: 19,215,902 K123* probably null Het
Ttn T A 2: 76,909,519 S3559C probably benign Het
Ubr4 C T 4: 139,480,676 R4923W probably damaging Het
Vac14 T C 8: 110,710,452 L599P probably damaging Het
Wdr5 T C 2: 27,519,734 probably benign Het
Other mutations in Nadk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01551:Nadk APN 4 155588700 splice site probably benign
IGL02078:Nadk APN 4 155579403 unclassified probably benign
IGL02116:Nadk APN 4 155579306 splice site probably benign
IGL02951:Nadk APN 4 155587476 missense probably benign 0.00
IGL03203:Nadk APN 4 155585251 missense probably damaging 0.99
R0416:Nadk UTSW 4 155587799 splice site probably benign
R1633:Nadk UTSW 4 155577185 missense probably damaging 1.00
R2044:Nadk UTSW 4 155585441 missense probably damaging 1.00
R2891:Nadk UTSW 4 155587360 missense possibly damaging 0.46
R2892:Nadk UTSW 4 155587360 missense possibly damaging 0.46
R2894:Nadk UTSW 4 155587360 missense possibly damaging 0.46
R4275:Nadk UTSW 4 155584255 missense probably benign 0.44
R4386:Nadk UTSW 4 155582575 unclassified probably benign
R4416:Nadk UTSW 4 155587726 nonsense probably null
R4703:Nadk UTSW 4 155585227 missense probably benign 0.00
R4704:Nadk UTSW 4 155585227 missense probably benign 0.00
R4705:Nadk UTSW 4 155585227 missense probably benign 0.00
R5219:Nadk UTSW 4 155584254 missense probably benign 0.00
R5610:Nadk UTSW 4 155584171 missense probably damaging 1.00
R5673:Nadk UTSW 4 155585185 missense possibly damaging 0.48
R6393:Nadk UTSW 4 155589351 missense possibly damaging 0.60
R7091:Nadk UTSW 4 155587758 missense probably benign 0.00
R7144:Nadk UTSW 4 155589336 missense probably damaging 0.99
Posted On2016-08-02