Incidental Mutation 'R7091:Nadk'
ID 550203
Institutional Source Beutler Lab
Gene Symbol Nadk
Ensembl Gene ENSMUSG00000029063
Gene Name NAD kinase
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.936) question?
Stock # R7091 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 155562378-155591001 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155587758 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 302 (H302R)
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: H302R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000030939
Gene: ENSMUSG00000029063
AA Change: H302R

DomainStartEndE-ValueType
Pfam:NAD_kinase 106 406 2.5e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105612
AA Change: H226R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101237
Gene: ENSMUSG00000029063
AA Change: H226R

DomainStartEndE-ValueType
Pfam:NAD_kinase 30 330 7.6e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105613
AA Change: H302R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101238
Gene: ENSMUSG00000029063
AA Change: H302R

DomainStartEndE-ValueType
Pfam:NAD_kinase 106 406 1.4e-67 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (56/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130019O22Rik C A 7: 127,384,362 A523S possibly damaging Het
Abhd18 A C 3: 40,916,738 I111L probably damaging Het
Ank1 A G 8: 23,058,663 D11G probably benign Het
Ank2 G T 3: 127,023,351 Q472K probably damaging Het
Apbb2 A T 5: 66,313,334 L520H probably damaging Het
Baat T C 4: 49,499,692 K205E probably benign Het
Brca1 T A 11: 101,526,427 M294L probably benign Het
Capn1 A G 19: 5,991,556 M641T possibly damaging Het
Cluap1 T A 16: 3,940,806 D377E probably benign Het
Col6a2 C T 10: 76,615,091 V39I unknown Het
Crybg3 T A 16: 59,557,168 D1241V possibly damaging Het
Dnah10 A G 5: 124,816,142 K3380R probably benign Het
Eml5 T C 12: 98,802,474 I1400M probably benign Het
Fancd2 A G 6: 113,545,101 D219G probably damaging Het
Fras1 A G 5: 96,708,676 S1973G probably benign Het
Fsd1 G A 17: 55,993,876 R245H probably damaging Het
G3bp1 T A 11: 55,496,221 H271Q possibly damaging Het
Glce A G 9: 62,060,588 V427A probably damaging Het
Gm4778 T C 3: 94,266,638 F314L probably damaging Het
Gm5141 T C 13: 62,773,964 T464A possibly damaging Het
Gulp1 T A 1: 44,766,134 F128I probably damaging Het
H2-Bl T C 17: 36,083,941 E30G possibly damaging Het
Hcrtr1 A C 4: 130,130,914 L393W probably damaging Het
Heg1 T C 16: 33,726,720 S650P probably benign Het
Hspa4l T A 3: 40,781,592 N569K probably benign Het
Ifi206 A G 1: 173,473,875 F746L unknown Het
Ivl T C 3: 92,572,242 D172G possibly damaging Het
Lrp5 A T 19: 3,630,184 D433E probably damaging Het
Mgam T C 6: 40,768,276 S1826P possibly damaging Het
Ms4a18 A T 19: 11,008,728 L206M probably damaging Het
Msln A T 17: 25,750,080 C444S probably damaging Het
Mta1 A G 12: 113,136,402 D644G probably damaging Het
Muc5ac G C 7: 141,809,687 probably benign Het
Naa15 T C 3: 51,458,756 probably null Het
Neb T A 2: 52,256,112 N15I Het
Nup153 A T 13: 46,683,928 S1273T probably benign Het
Ofcc1 A G 13: 40,072,767 I763T probably damaging Het
Olfr142 T C 2: 90,252,463 Y175C probably damaging Het
Oxsr1 T C 9: 119,284,661 I107V probably benign Het
Prmt5 A G 14: 54,511,342 probably null Het
Ptk2 G A 15: 73,221,809 P854S possibly damaging Het
Ranbp6 A G 19: 29,812,716 S79P probably damaging Het
Reln T C 5: 21,899,029 I3315V probably null Het
Rnf223 T C 4: 156,132,699 V177A probably benign Het
Slc20a1 C T 2: 129,208,272 T450M possibly damaging Het
Smg5 C T 3: 88,351,347 P542S probably benign Het
Sorl1 T A 9: 42,002,634 Q1333L probably benign Het
Spag5 T A 11: 78,313,191 probably null Het
Tdp2 T A 13: 24,838,224 F209I probably damaging Het
Tgm4 C A 9: 123,040,460 L35M probably damaging Het
Tma7 A G 9: 109,082,512 probably benign Het
Tmprss4 A T 9: 45,184,273 V91D probably damaging Het
Tnfsf4 T A 1: 161,395,697 M39K probably benign Het
Ttn T A 2: 76,713,568 T33025S probably benign Het
Tut1 A G 19: 8,965,811 H754R probably benign Het
Vmn2r27 T G 6: 124,223,945 Q351P possibly damaging Het
Wee2 G T 6: 40,462,002 G353V probably benign Het
Zfp879 T A 11: 50,833,395 H278L probably damaging 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
IGL03059:Nadk APN 4 155586796 missense probably benign 0.02
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
R7144:Nadk UTSW 4 155589336 missense probably damaging 0.99
R7811:Nadk UTSW 4 155576875 intron probably benign
R7951:Nadk UTSW 4 155577067 missense probably benign 0.06
R7952:Nadk UTSW 4 155577067 missense probably benign 0.06
R8002:Nadk UTSW 4 155577198 critical splice donor site probably null
R8039:Nadk UTSW 4 155577067 missense probably benign 0.06
R8041:Nadk UTSW 4 155577067 missense probably benign 0.06
R8042:Nadk UTSW 4 155577067 missense probably benign 0.06
R8066:Nadk UTSW 4 155577067 missense probably benign 0.06
R8113:Nadk UTSW 4 155570670 splice site probably null
R8558:Nadk UTSW 4 155585387 missense probably benign 0.40
R9122:Nadk UTSW 4 155586818 missense probably benign 0.00
Z1177:Nadk UTSW 4 155587700 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCTAACTTCAACTCCCAAGG -3'
(R):5'- TGGGTGTAACCATGATGGCC -3'

Sequencing Primer
(F):5'- TGAACTCGGGGCTGGAATC -3'
(R):5'- TAACCATGATGGCCGGCAC -3'
Posted On 2019-05-15