Incidental Mutation 'R9122:Nadk'
ID 692808
Institutional Source Beutler Lab
Gene Symbol Nadk
Ensembl Gene ENSMUSG00000029063
Gene Name NAD kinase
Synonyms 4432404C02Rik
MMRRC Submission 068924-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.937) question?
Stock # R9122 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 155646838-155675458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 155671275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 226 (N226K)
Ref Sequence ENSEMBL: ENSMUSP00000030939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030939] [ENSMUST00000105612] [ENSMUST00000105613]
AlphaFold P58058
Predicted Effect probably benign
Transcript: ENSMUST00000030939
AA Change: N226K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000030939
Gene: ENSMUSG00000029063
AA Change: N226K

DomainStartEndE-ValueType
Pfam:NAD_kinase 106 406 2.5e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105612
AA Change: N150K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000101237
Gene: ENSMUSG00000029063
AA Change: N150K

DomainStartEndE-ValueType
Pfam:NAD_kinase 30 330 7.6e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105613
AA Change: N226K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000101238
Gene: ENSMUSG00000029063
AA Change: N226K

DomainStartEndE-ValueType
Pfam:NAD_kinase 106 406 1.4e-67 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 100% (42/42)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik C G 17: 36,203,963 (GRCm39) S185T probably benign Het
Armh4 A T 14: 50,011,459 (GRCm39) Y83N possibly damaging Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Cacna1d C A 14: 29,845,402 (GRCm39) R611L probably damaging Het
Cacna1d G A 14: 29,852,125 (GRCm39) T498I probably benign Het
Cc2d2a T A 5: 43,831,081 (GRCm39) D57E probably null Het
Cd180 C A 13: 102,841,517 (GRCm39) L188M probably damaging Het
Chd7 A G 4: 8,840,510 (GRCm39) K1426R possibly damaging Het
Cntnap5c A T 17: 58,411,601 (GRCm39) D495V probably benign Het
Col11a1 T A 3: 113,907,249 (GRCm39) M630K unknown Het
Cxxc1 T G 18: 74,350,246 (GRCm39) D4E probably benign Het
Ddx31 G A 2: 28,748,753 (GRCm39) R227Q probably damaging Het
Ddx60 A G 8: 62,442,898 (GRCm39) M1109V probably benign Het
Dennd5b T C 6: 148,908,240 (GRCm39) T1018A Het
Efcab3 A T 11: 104,856,605 (GRCm39) D3840V unknown Het
Ggta1 A T 2: 35,303,336 (GRCm39) probably null Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gpr37l1 C T 1: 135,095,209 (GRCm39) V12I probably benign Het
Grin2a A T 16: 9,397,186 (GRCm39) V967E possibly damaging Het
H2ac25 T C 11: 58,845,667 (GRCm39) L35P probably damaging Het
Helz A G 11: 107,556,830 (GRCm39) T1283A probably benign Het
Ints1 A G 5: 139,745,930 (GRCm39) M1315T possibly damaging Het
Klri1 T A 6: 129,693,995 (GRCm39) R31* probably null Het
Ncapg T C 5: 45,846,015 (GRCm39) F624S possibly damaging Het
Nxn A T 11: 76,169,317 (GRCm39) I154N probably damaging Het
Pclo T C 5: 14,729,998 (GRCm39) V2952A unknown Het
Poc1a T C 9: 106,162,242 (GRCm39) V89A probably benign Het
Pou2f2 T A 7: 24,792,302 (GRCm39) T518S probably benign Het
Pou5f1 C T 17: 35,819,953 (GRCm39) T7I probably benign Het
Prss44 T C 9: 110,646,362 (GRCm39) V363A probably damaging Het
Rhobtb1 T C 10: 69,106,653 (GRCm39) V468A probably damaging Het
Slc24a1 C A 9: 64,834,478 (GRCm39) M981I probably benign Het
Tacc1 G T 8: 25,659,255 (GRCm39) S570R probably damaging Het
Tle3 C T 9: 61,314,755 (GRCm39) probably benign Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Trgv1 G A 13: 19,524,330 (GRCm39) G18E probably damaging Het
Trim23 A G 13: 104,317,681 (GRCm39) T61A probably benign Het
Tshr C A 12: 91,478,737 (GRCm39) H195N probably benign Het
Ttn A G 2: 76,712,151 (GRCm39) S8202P unknown Het
Ufsp2 A T 8: 46,438,441 (GRCm39) Y248F probably benign Het
Vmn2r12 T A 5: 109,240,910 (GRCm39) I68L probably benign Het
Wdfy3 C A 5: 102,091,831 (GRCm39) V503L probably damaging Het
Zfp788 A T 7: 41,299,919 (GRCm39) K852* probably null Het
Zfp980 A C 4: 145,428,834 (GRCm39) H521P probably damaging Het
Other mutations in Nadk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01551:Nadk APN 4 155,673,157 (GRCm39) splice site probably benign
IGL02078:Nadk APN 4 155,663,860 (GRCm39) unclassified probably benign
IGL02116:Nadk APN 4 155,663,763 (GRCm39) splice site probably benign
IGL02951:Nadk APN 4 155,671,933 (GRCm39) missense probably benign 0.00
IGL03059:Nadk APN 4 155,671,253 (GRCm39) missense probably benign 0.02
IGL03203:Nadk APN 4 155,669,708 (GRCm39) missense probably damaging 0.99
R0416:Nadk UTSW 4 155,672,256 (GRCm39) splice site probably benign
R1633:Nadk UTSW 4 155,661,642 (GRCm39) missense probably damaging 1.00
R2044:Nadk UTSW 4 155,669,898 (GRCm39) missense probably damaging 1.00
R2891:Nadk UTSW 4 155,671,817 (GRCm39) missense possibly damaging 0.46
R2892:Nadk UTSW 4 155,671,817 (GRCm39) missense possibly damaging 0.46
R2894:Nadk UTSW 4 155,671,817 (GRCm39) missense possibly damaging 0.46
R4275:Nadk UTSW 4 155,668,712 (GRCm39) missense probably benign 0.44
R4386:Nadk UTSW 4 155,667,032 (GRCm39) unclassified probably benign
R4416:Nadk UTSW 4 155,672,183 (GRCm39) nonsense probably null
R4703:Nadk UTSW 4 155,669,684 (GRCm39) missense probably benign 0.00
R4704:Nadk UTSW 4 155,669,684 (GRCm39) missense probably benign 0.00
R4705:Nadk UTSW 4 155,669,684 (GRCm39) missense probably benign 0.00
R5219:Nadk UTSW 4 155,668,711 (GRCm39) missense probably benign 0.00
R5610:Nadk UTSW 4 155,668,628 (GRCm39) missense probably damaging 1.00
R5673:Nadk UTSW 4 155,669,642 (GRCm39) missense possibly damaging 0.48
R6393:Nadk UTSW 4 155,673,808 (GRCm39) missense possibly damaging 0.60
R7091:Nadk UTSW 4 155,672,215 (GRCm39) missense probably benign 0.00
R7144:Nadk UTSW 4 155,673,793 (GRCm39) missense probably damaging 0.99
R7811:Nadk UTSW 4 155,661,332 (GRCm39) intron probably benign
R7951:Nadk UTSW 4 155,661,524 (GRCm39) missense probably benign 0.06
R7952:Nadk UTSW 4 155,661,524 (GRCm39) missense probably benign 0.06
R8002:Nadk UTSW 4 155,661,655 (GRCm39) critical splice donor site probably null
R8039:Nadk UTSW 4 155,661,524 (GRCm39) missense probably benign 0.06
R8041:Nadk UTSW 4 155,661,524 (GRCm39) missense probably benign 0.06
R8042:Nadk UTSW 4 155,661,524 (GRCm39) missense probably benign 0.06
R8066:Nadk UTSW 4 155,661,524 (GRCm39) missense probably benign 0.06
R8113:Nadk UTSW 4 155,655,127 (GRCm39) splice site probably null
R8558:Nadk UTSW 4 155,669,844 (GRCm39) missense probably benign 0.40
Z1177:Nadk UTSW 4 155,672,157 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCACTGCTTTGGAAGGTG -3'
(R):5'- TCCCAAATCTTGAAACTGCATC -3'

Sequencing Primer
(F):5'- GAAGGTGGCCTGCTTGC -3'
(R):5'- GCTGCCTGCTTTTAAAGAAGACC -3'
Posted On 2021-12-30