Incidental Mutation 'R4183:Naxd'
ID 319820
Institutional Source Beutler Lab
Gene Symbol Naxd
Ensembl Gene ENSMUSG00000031505
Gene Name NAD(P)HX dehydratase
Synonyms 0710008K08Rik, 2810407E01Rik, Carkd
MMRRC Submission 041019-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.551) question?
Stock # R4183 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 11547506-11563287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11552757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 59 (V59A)
Ref Sequence ENSEMBL: ENSMUSP00000137488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033901] [ENSMUST00000177955] [ENSMUST00000178721] [ENSMUST00000178817]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000033901
AA Change: V97A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033901
Gene: ENSMUSG00000031505
AA Change: V97A

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Pfam:Carb_kinase 94 356 6.2e-63 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177955
AA Change: V59A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136363
Gene: ENSMUSG00000031505
AA Change: V59A

DomainStartEndE-ValueType
Pfam:Carb_kinase 56 319 2.5e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178364
Predicted Effect probably damaging
Transcript: ENSMUST00000178721
AA Change: V59A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136535
Gene: ENSMUSG00000031505
AA Change: V59A

DomainStartEndE-ValueType
Pfam:Carb_kinase 56 242 1.4e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178817
AA Change: V59A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137488
Gene: ENSMUSG00000031505
AA Change: V59A

DomainStartEndE-ValueType
Pfam:Carb_kinase 56 79 1.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209932
Meta Mutation Damage Score 0.8276 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd11 T C 8: 123,626,415 (GRCm39) I198V possibly damaging Het
Arhgap12 T C 18: 6,111,734 (GRCm39) D210G probably damaging Het
Arpc2 T A 1: 74,287,322 (GRCm39) N31K probably damaging Het
Atp11a T A 8: 12,866,990 (GRCm39) V139D possibly damaging Het
Bicral T C 17: 47,124,955 (GRCm39) K615E probably damaging Het
Ccdc27 TTCCTCCTCCTCCTCCTCCTC TTCCTCCTCCTCCTCCTC 4: 154,120,763 (GRCm39) probably benign Het
Chrnb1 T C 11: 69,677,922 (GRCm39) M277V possibly damaging Het
Csmd1 C T 8: 15,960,464 (GRCm39) C3317Y probably damaging Het
Ddx1 A T 12: 13,281,504 (GRCm39) L353* probably null Het
Degs2 T C 12: 108,658,358 (GRCm39) K207R probably damaging Het
Fam167a T C 14: 63,689,769 (GRCm39) V22A probably benign Het
Fam186a G A 15: 99,831,566 (GRCm39) probably benign Het
Gprc5b T C 7: 118,583,749 (GRCm39) D40G probably benign Het
Grsf1 G A 5: 88,812,015 (GRCm39) P271S probably benign Het
Inpp5j A G 11: 3,451,134 (GRCm39) I505T probably damaging Het
Lurap1l G A 4: 80,872,095 (GRCm39) S196N probably benign Het
Mapk8 T C 14: 33,104,177 (GRCm39) D413G probably damaging Het
Mapkbp1 A G 2: 119,848,346 (GRCm39) D632G probably damaging Het
Mcidas A G 13: 113,130,906 (GRCm39) D77G probably damaging Het
Mdga1 A G 17: 30,188,964 (GRCm39) V33A unknown Het
Me3 A G 7: 89,501,038 (GRCm39) D583G probably benign Het
Mndal T A 1: 173,703,337 (GRCm39) T23S possibly damaging Het
Myh13 T C 11: 67,240,436 (GRCm39) M780T possibly damaging Het
Nat10 A G 2: 103,570,158 (GRCm39) L395P probably damaging Het
Nbeal2 A T 9: 110,465,743 (GRCm39) V876E probably benign Het
Or11h4b C G 14: 50,918,507 (GRCm39) E195Q probably benign Het
Or1o2 T G 17: 37,542,739 (GRCm39) H174P possibly damaging Het
Or4a39 T C 2: 89,236,935 (GRCm39) T163A probably benign Het
Or51v8 T C 7: 103,320,178 (GRCm39) Y20C possibly damaging Het
Or8g50 A G 9: 39,648,344 (GRCm39) T78A probably benign Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Pcsk4 C T 10: 80,160,845 (GRCm39) R327Q probably benign Het
Pkhd1 C T 1: 20,188,031 (GRCm39) V3426I probably benign Het
Ranbp2 T C 10: 58,301,488 (GRCm39) F687L possibly damaging Het
Rb1 A G 14: 73,435,966 (GRCm39) probably null Het
Tfpi2 C A 6: 3,963,926 (GRCm39) V51L probably damaging Het
Tnn T C 1: 159,924,925 (GRCm39) D1143G probably damaging Het
Ttn A G 2: 76,541,586 (GRCm39) M25473T probably benign Het
Vmn1r201 A G 13: 22,659,022 (GRCm39) I79V probably benign Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Wdr25 T A 12: 108,993,257 (GRCm39) F491Y probably benign Het
Zfp972 G A 2: 177,563,250 (GRCm39) Q56* probably null Het
Zfp982 A G 4: 147,597,150 (GRCm39) K169R probably benign Het
Other mutations in Naxd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01776:Naxd APN 8 11,555,525 (GRCm39) splice site probably null
IGL01983:Naxd APN 8 11,560,218 (GRCm39) unclassified probably benign
R0496:Naxd UTSW 8 11,560,224 (GRCm39) unclassified probably benign
R2044:Naxd UTSW 8 11,559,510 (GRCm39) missense probably benign 0.02
R4618:Naxd UTSW 8 11,559,489 (GRCm39) missense probably damaging 0.98
R5015:Naxd UTSW 8 11,563,032 (GRCm39) missense probably damaging 1.00
R5636:Naxd UTSW 8 11,552,676 (GRCm39) missense probably benign 0.02
R6947:Naxd UTSW 8 11,552,757 (GRCm39) missense probably damaging 0.97
R7121:Naxd UTSW 8 11,556,745 (GRCm39) missense probably damaging 1.00
R8178:Naxd UTSW 8 11,561,987 (GRCm39) missense probably benign 0.44
R9352:Naxd UTSW 8 11,555,504 (GRCm39) missense probably damaging 1.00
R9359:Naxd UTSW 8 11,562,968 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TGTTAGATGGTCTCTAATGCCTTC -3'
(R):5'- TAGAAAGCGGCCAATGAGCC -3'

Sequencing Primer
(F):5'- AGATGGTCTCTAATGCCTTCATTTC -3'
(R):5'- CAGCCTTCATCTTGATCAGAAAGTC -3'
Posted On 2015-06-10