Incidental Mutation 'R5636:Naxd'
ID 440374
Institutional Source Beutler Lab
Gene Symbol Naxd
Ensembl Gene ENSMUSG00000031505
Gene Name NAD(P)HX dehydratase
Synonyms 0710008K08Rik, Carkd, 2810407E01Rik
MMRRC Submission 043287-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.815) question?
Stock # R5636 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 11497506-11514960 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11502676 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 32 (N32S)
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 benign
Transcript: ENSMUST00000033901
AA Change: N70S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000033901
Gene: ENSMUSG00000031505
AA Change: N70S

DomainStartEndE-ValueType
transmembrane domain 24 46 N/A INTRINSIC
Pfam:Carb_kinase 94 356 6.2e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177955
AA Change: N32S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000136363
Gene: ENSMUSG00000031505
AA Change: N32S

DomainStartEndE-ValueType
Pfam:Carb_kinase 56 319 2.5e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178364
Predicted Effect probably benign
Transcript: ENSMUST00000178721
AA Change: N32S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000136535
Gene: ENSMUSG00000031505
AA Change: N32S

DomainStartEndE-ValueType
Pfam:Carb_kinase 56 242 1.4e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178817
AA Change: N32S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000137488
Gene: ENSMUSG00000031505
AA Change: N32S

DomainStartEndE-ValueType
Pfam:Carb_kinase 56 79 1.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209932
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C T 19: 31,944,982 Q448* probably null Het
Abca5 A G 11: 110,301,536 Y717H probably benign Het
Abcg2 T A 6: 58,672,056 D295E probably damaging Het
Accsl C T 2: 93,869,025 E7K probably benign Het
Acvr2b A G 9: 119,428,309 Y152C probably damaging Het
Akap13 A G 7: 75,704,372 E1747G probably damaging Het
Arpp19 C T 9: 75,037,933 probably benign Het
Atp10d A G 5: 72,288,219 Y74C probably damaging Het
Atp6v0b T C 4: 117,886,385 probably benign Het
Bms1 C A 6: 118,388,825 M1133I probably benign Het
Bysl A C 17: 47,602,723 D259E probably benign Het
Capn1 A T 19: 6,014,442 V9E probably benign Het
Cdkl2 T C 5: 92,033,742 I127V probably benign Het
Cyp2c38 G A 19: 39,438,306 Q184* probably null Het
Cypt12 C T 3: 17,948,585 R41C probably benign Het
Fat2 T C 11: 55,282,481 I2469V probably damaging Het
Fbxo38 A G 18: 62,511,018 V923A possibly damaging Het
Gm13889 A G 2: 93,956,686 C148R probably damaging Het
Gpd1 A T 15: 99,722,058 T223S probably benign Het
Hcrtr1 C A 4: 130,130,945 G383C possibly damaging Het
Hivep1 C T 13: 42,163,456 P2047S possibly damaging Het
Islr2 T C 9: 58,201,301 T35A probably benign Het
Lgr6 T C 1: 134,987,078 D644G probably benign Het
Lrrc6 A T 15: 66,500,816 probably null Het
Mdn1 C T 4: 32,695,480 T1173I probably damaging Het
Mon1a T C 9: 107,901,240 V221A probably damaging Het
Mrgprb4 A G 7: 48,198,470 C237R probably benign Het
Myo1b A G 1: 51,797,528 M264T probably damaging Het
Nlrp12 A T 7: 3,225,294 L1010Q probably damaging Het
Nos1ap T A 1: 170,349,399 K145M probably damaging Het
Nuggc A T 14: 65,648,188 K755* probably null Het
Olfr1501 C T 19: 13,838,337 V279M possibly damaging Het
Olfr332 T C 11: 58,490,051 K235E probably damaging Het
Pik3ca G A 3: 32,461,560 R794Q probably damaging Het
Pnp2 A G 14: 50,956,192 probably null Het
Ric3 G A 7: 109,038,820 T242I probably damaging Het
Rnf213 G A 11: 119,436,629 R1814K probably benign Het
Rnf213 A C 11: 119,436,905 Q1906P probably damaging Het
Rufy2 T A 10: 62,997,954 I265N probably damaging Het
Scap G T 9: 110,380,594 G744C probably damaging Het
Serpinb3c T C 1: 107,275,014 Q88R possibly damaging Het
Sf3b1 T C 1: 54,997,193 D907G probably damaging Het
Skint8 C A 4: 111,950,193 L359M probably damaging Het
Slc4a3 C T 1: 75,554,216 L749F possibly damaging Het
Smtn T G 11: 3,517,829 probably null Het
Spag9 C A 11: 94,069,012 D342E probably damaging Het
Sptbn5 G A 2: 120,057,404 probably benign Het
Stam G T 2: 14,117,427 M112I probably damaging Het
Tex35 C T 1: 157,100,224 W125* probably null Het
Tmem215 A G 4: 40,474,394 E157G probably damaging Het
Traf6 G A 2: 101,696,909 V335M probably benign Het
Ubr5 T A 15: 37,983,996 K2302N probably damaging Het
Vmn2r78 A G 7: 86,954,429 H605R probably damaging Het
Other mutations in Naxd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01776:Naxd APN 8 11505525 splice site probably null
IGL01983:Naxd APN 8 11510218 unclassified probably benign
R0496:Naxd UTSW 8 11510224 unclassified probably benign
R2044:Naxd UTSW 8 11509510 missense probably benign 0.02
R4183:Naxd UTSW 8 11502757 missense probably damaging 0.97
R4618:Naxd UTSW 8 11509489 missense probably damaging 0.98
R5015:Naxd UTSW 8 11513032 missense probably damaging 1.00
R6947:Naxd UTSW 8 11502757 missense probably damaging 0.97
R7121:Naxd UTSW 8 11506745 missense probably damaging 1.00
R9352:Naxd UTSW 8 11505504 missense probably damaging 1.00
R9359:Naxd UTSW 8 11512968 missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GCTGCTATTAACCTGTCAGTCC -3'
(R):5'- ATCACTGCACATGGGTGGAC -3'

Sequencing Primer
(F):5'- GTCCTGACCATCACTTCCCCAAG -3'
(R):5'- CACATGGGTGGACGGACAG -3'
Posted On 2016-11-08