Incidental Mutation 'R6947:Naxd'
ID 540925
Institutional Source Beutler Lab
Gene Symbol Naxd
Ensembl Gene ENSMUSG00000031505
Gene Name NAD(P)HX dehydratase
Synonyms 0710008K08Rik, 2810407E01Rik, Carkd
MMRRC Submission 045060-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.540) question?
Stock # R6947 (G1)
Quality Score 225.009
Status 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: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.0%
Validation Efficiency 100% (46/46)
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 C A 9: 90,073,857 (GRCm39) probably null Het
Adcy4 T C 14: 56,015,848 (GRCm39) T414A possibly damaging Het
Bop1 A G 15: 76,338,188 (GRCm39) F561L probably damaging Het
Ccdc18 T C 5: 108,309,401 (GRCm39) V332A probably benign Het
Cep290 A G 10: 100,365,918 (GRCm39) T1042A probably damaging Het
Cnot8 G T 11: 58,008,331 (GRCm39) V266L probably benign Het
Cxxc4 C T 3: 133,946,277 (GRCm39) S286F possibly damaging Het
Cyp2d12 A T 15: 82,443,248 (GRCm39) I386L probably benign Het
Dgka A T 10: 128,568,884 (GRCm39) I227N probably damaging Het
Eif2d T C 1: 131,092,404 (GRCm39) V354A probably benign Het
Fgr T A 4: 132,722,380 (GRCm39) probably null Het
Idnk A G 13: 58,308,055 (GRCm39) probably null Het
Kmt2e T C 5: 23,702,543 (GRCm39) S952P probably damaging Het
Kng1 A G 16: 22,896,124 (GRCm39) H343R probably benign Het
Lgals8 G A 13: 12,469,682 (GRCm39) probably benign Het
Lrit3 T A 3: 129,582,883 (GRCm39) Q368L probably benign Het
Lypd8 A T 11: 58,273,592 (GRCm39) T24S probably benign Het
Map3k4 G A 17: 12,479,456 (GRCm39) Q704* probably null Het
Mcm3ap A G 10: 76,351,500 (GRCm39) I1948V probably benign Het
Mettl25 A G 10: 105,662,053 (GRCm39) F306L probably benign Het
Mos A C 4: 3,871,585 (GRCm39) V77G probably damaging Het
Muc4 C T 16: 32,596,177 (GRCm39) R3130C possibly damaging Het
Nup107 A G 10: 117,593,179 (GRCm39) V833A probably benign Het
Or1p4-ps1 C T 11: 74,208,370 (GRCm39) S173L unknown Het
Or5m10b T C 2: 85,699,271 (GRCm39) F112L probably benign Het
Pcnx2 C T 8: 126,577,021 (GRCm39) probably null Het
Pde10a T A 17: 9,188,424 (GRCm39) I908N probably damaging Het
Plcb1 A G 2: 135,228,075 (GRCm39) K1058R probably benign Het
Rad17 A T 13: 100,759,383 (GRCm39) F548Y probably damaging Het
Rad54b T G 4: 11,569,859 (GRCm39) S58R possibly damaging Het
Rbm20 G A 19: 53,839,696 (GRCm39) G895D probably damaging Het
Rgs22 T C 15: 36,104,036 (GRCm39) probably null Het
Rhobtb3 A G 13: 76,058,785 (GRCm39) S338P probably benign Het
Ruvbl2 A G 7: 45,074,373 (GRCm39) probably null Het
Slc16a12 A G 19: 34,650,007 (GRCm39) F343L probably benign Het
Slc22a28 A G 19: 8,041,875 (GRCm39) L444P possibly damaging Het
Slc44a4 A T 17: 35,147,044 (GRCm39) Q358L probably null Het
Sowaha A G 11: 53,369,225 (GRCm39) F504L probably benign Het
Syne1 A G 10: 5,125,789 (GRCm39) L6035P probably damaging Het
Thbs2 A T 17: 14,910,029 (GRCm39) M190K possibly damaging Het
Tmem171 A G 13: 98,824,950 (GRCm39) F227L possibly damaging Het
Trp53 A G 11: 69,479,307 (GRCm39) K162E possibly damaging Het
Ttn T A 2: 76,724,732 (GRCm39) K2098* probably null Het
Usp30 T C 5: 114,241,821 (GRCm39) S88P probably benign Het
Zfp276 C A 8: 123,981,643 (GRCm39) D63E 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
R4183:Naxd UTSW 8 11,552,757 (GRCm39) missense probably damaging 0.97
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
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'- CAGTCAGCAGCTTTGGGAAG -3'
(R):5'- CTCAGCCTTCATCTTGATCAGAAAG -3'

Sequencing Primer
(F):5'- GAAGCATGTTAGATGGTCTCTAATGC -3'
(R):5'- CCTTCATCTTGATCAGAAAGTCAGTG -3'
Posted On 2018-11-28