Incidental Mutation 'R8178:Naxd'
ID 634489
Institutional Source Beutler Lab
Gene Symbol Naxd
Ensembl Gene ENSMUSG00000031505
Gene Name NAD(P)HX dehydratase
Synonyms 0710008K08Rik, 2810407E01Rik, Carkd
MMRRC Submission 067603-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.551) question?
Stock # R8178 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 11547506-11563287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 11561987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 275 (K275Q)
Ref Sequence ENSEMBL: ENSMUSP00000136363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033901] [ENSMUST00000049461] [ENSMUST00000177955] [ENSMUST00000178721] [ENSMUST00000178817] [ENSMUST00000210478] [ENSMUST00000211395]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000033901
AA Change: K313Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033901
Gene: ENSMUSG00000031505
AA Change: K313Q

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Pfam:Carb_kinase 94 356 6.2e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000049461
SMART Domains Protein: ENSMUSP00000046453
Gene: ENSMUSG00000056228

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Pfam:tRNA-synt_1e 50 351 4.1e-116 PFAM
Pfam:tRNA-synt_1g 63 207 1.5e-7 PFAM
Pfam:tRNA-synt_1g 280 370 4.2e-7 PFAM
Blast:DALR_2 391 461 3e-37 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000177955
AA Change: K275Q

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136363
Gene: ENSMUSG00000031505
AA Change: K275Q

DomainStartEndE-ValueType
Pfam:Carb_kinase 56 319 2.5e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178721
SMART Domains Protein: ENSMUSP00000136535
Gene: ENSMUSG00000031505

DomainStartEndE-ValueType
Pfam:Carb_kinase 56 242 1.4e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178817
SMART Domains Protein: ENSMUSP00000137488
Gene: ENSMUSG00000031505

DomainStartEndE-ValueType
Pfam:Carb_kinase 56 79 1.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210478
Predicted Effect probably benign
Transcript: ENSMUST00000211395
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik A G 17: 79,935,699 (GRCm39) I276V Het
Acsm5 C A 7: 119,141,618 (GRCm39) H538N probably damaging Het
Adamts17 A G 7: 66,499,464 (GRCm39) I4V possibly damaging Het
Adgrg3 T C 8: 95,761,675 (GRCm39) V146A probably damaging Het
Ankrd52 T A 10: 128,225,170 (GRCm39) L877Q probably damaging Het
Aox3 A T 1: 58,189,481 (GRCm39) D394V possibly damaging Het
Arhgap45 G A 10: 79,863,706 (GRCm39) A819T probably damaging Het
Arhgef4 A G 1: 34,761,983 (GRCm39) E413G unknown Het
Arhgef5 T C 6: 43,252,119 (GRCm39) S957P probably benign Het
Arsk G T 13: 76,239,861 (GRCm39) T114K probably damaging Het
Bpifb2 T C 2: 153,733,876 (GRCm39) V406A probably damaging Het
Cbr3 C A 16: 93,480,393 (GRCm39) Q61K probably benign Het
Ccdc73 C T 2: 104,821,557 (GRCm39) S502L probably benign Het
Cdhr3 A T 12: 33,098,931 (GRCm39) probably null Het
Cep170b T A 12: 112,705,719 (GRCm39) M1159K possibly damaging Het
Cep295 A T 9: 15,244,836 (GRCm39) S1159T Het
Cit C T 5: 116,107,131 (GRCm39) R1088W probably damaging Het
Col16a1 A T 4: 129,947,270 (GRCm39) H205L unknown Het
Cpt1c T G 7: 44,609,077 (GRCm39) H748P probably damaging Het
Cstdc4 T G 16: 36,006,772 (GRCm39) Y35* probably null Het
Dcaf8 A T 1: 172,013,886 (GRCm39) D359V probably benign Het
Dcstamp A G 15: 39,618,422 (GRCm39) Y277C probably damaging Het
Dnah10 A G 5: 124,832,790 (GRCm39) K898R probably benign Het
Dnah6 T A 6: 73,037,208 (GRCm39) T3345S probably benign Het
Dpp6 A T 5: 27,803,815 (GRCm39) N254Y probably damaging Het
F2 A T 2: 91,460,618 (GRCm39) probably null Het
Fam216b G C 14: 78,322,504 (GRCm39) H67D possibly damaging Het
Fbxl17 A C 17: 63,794,967 (GRCm39) probably null Het
Gas2 T A 7: 51,547,026 (GRCm39) M59K probably damaging Het
Glud1 G A 14: 34,065,664 (GRCm39) G554D probably damaging Het
Gys2 C T 6: 142,402,138 (GRCm39) G234R probably damaging Het
Ifngr1 A G 10: 19,485,241 (GRCm39) I413M probably benign Het
Inpp5a C T 7: 139,118,153 (GRCm39) R236C probably damaging Het
Kcnip3 A G 2: 127,323,934 (GRCm39) S32P probably benign Het
Lingo3 T A 10: 80,670,464 (GRCm39) T489S possibly damaging Het
Lrpprc A G 17: 85,079,575 (GRCm39) L227P probably damaging Het
Morn1 A G 4: 155,213,160 (GRCm39) Q356R probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nck1 A T 9: 100,379,790 (GRCm39) W154R probably damaging Het
Or10d5 G A 9: 39,861,708 (GRCm39) R120C probably benign Het
Or1ad8 T A 11: 50,898,437 (GRCm39) C213S probably damaging Het
Or5aq6 C T 2: 86,923,220 (GRCm39) V174M possibly damaging Het
Or7e175 T C 9: 20,048,571 (GRCm39) V53A possibly damaging Het
Pdxk C T 10: 78,289,338 (GRCm39) V38M probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pes1 T C 11: 3,927,718 (GRCm39) S482P probably benign Het
Pglyrp1 T A 7: 18,618,657 (GRCm39) F3I unknown Het
Pira13 T C 7: 3,824,260 (GRCm39) K631R unknown Het
Plce1 T A 19: 38,761,423 (GRCm39) F2092I possibly damaging Het
Pms1 A G 1: 53,246,505 (GRCm39) S345P probably benign Het
Pom121l12 C A 11: 14,550,011 (GRCm39) P239H probably damaging Het
Prdm2 A G 4: 142,859,018 (GRCm39) I1424T probably benign Het
Prmt6 A G 3: 110,158,140 (GRCm39) Y50H probably damaging Het
Rbm39 T C 2: 155,996,195 (GRCm39) I397V probably benign Het
Rnf157 A G 11: 116,238,307 (GRCm39) V519A possibly damaging Het
Sec23a T C 12: 59,053,980 (GRCm39) E6G possibly damaging Het
Shank1 T C 7: 43,962,748 (GRCm39) probably null Het
Slfn3 A G 11: 83,105,505 (GRCm39) I378V probably benign Het
Smn1 T A 13: 100,267,303 (GRCm39) probably null Het
Snd1 T C 6: 28,874,975 (GRCm39) F632S possibly damaging Het
Sun5 T C 2: 153,698,131 (GRCm39) probably null Het
Tial1 T C 7: 128,046,614 (GRCm39) R209G probably benign Het
Trhde T C 10: 114,244,598 (GRCm39) I963V possibly damaging Het
Tssc4 G T 7: 142,623,932 (GRCm39) R80L possibly damaging Het
Ttn A T 2: 76,642,852 (GRCm39) N13261K probably damaging Het
Ugdh A T 5: 65,581,005 (GRCm39) probably null Het
Vmn1r218 A T 13: 23,321,472 (GRCm39) E273V probably benign Het
Vmn2r92 T A 17: 18,386,988 (GRCm39) F109Y possibly damaging Het
Zcchc7 A G 4: 44,931,398 (GRCm39) S196G probably benign Het
Zfp788 T A 7: 41,298,335 (GRCm39) C324S probably damaging Het
Zfp976 T C 7: 42,262,959 (GRCm39) T294A 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
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
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'- AAGCTCCATAGGCTGTGAGG -3'
(R):5'- CATGGCTGCTTGGATTAGCAC -3'

Sequencing Primer
(F):5'- CCATAGGCTGTGAGGTATACTTCC -3'
(R):5'- CTGCTTGGATTAGCACCAATG -3'
Posted On 2020-07-13