Incidental Mutation 'R5015:Naxd'
ID 385503
Institutional Source Beutler Lab
Gene Symbol Naxd
Ensembl Gene ENSMUSG00000031505
Gene Name NAD(P)HX dehydratase
Synonyms 0710008K08Rik, Carkd, 2810407E01Rik
MMRRC Submission 042606-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.567) question?
Stock # R5015 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 11497506-11514960 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11513032 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 324 (L324P)
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: L362P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033901
Gene: ENSMUSG00000031505
AA Change: L362P

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 damaging
Transcript: ENSMUST00000177955
AA Change: L324P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136363
Gene: ENSMUSG00000031505
AA Change: L324P

DomainStartEndE-ValueType
Pfam:Carb_kinase 56 319 2.5e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178382
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 noncoding transcript
Transcript: ENSMUST00000180269
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210316
Predicted Effect probably benign
Transcript: ENSMUST00000210478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211172
Predicted Effect probably benign
Transcript: ENSMUST00000211395
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 91.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 T A 8: 40,754,634 F312L probably benign Het
Adprm A G 11: 67,042,030 F18L possibly damaging Het
Ampd1 T G 3: 103,099,665 N735K possibly damaging Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Atp1a4 T C 1: 172,254,082 M168V probably damaging Het
Bcl6 G A 16: 23,974,850 H116Y probably damaging Het
Bmpr2 T A 1: 59,851,224 N338K probably damaging Het
Bms1 A T 6: 118,404,263 Y697* probably null Het
Ccdc33 A C 9: 58,118,635 F37C probably damaging Het
Ccdc60 T A 5: 116,288,448 Q30L probably benign Het
Cndp1 C A 18: 84,631,911 R219L probably damaging Het
D13Ertd608e T A 13: 119,836,938 probably null Het
Daam2 C A 17: 49,476,522 D627Y probably damaging Het
Dffb T C 4: 153,972,959 D87G possibly damaging Het
Dnah2 T G 11: 69,497,882 T892P possibly damaging Het
Dqx1 A G 6: 83,066,111 T610A probably benign Het
Dspp A T 5: 104,177,060 I430L possibly damaging Het
Dytn T A 1: 63,633,695 K516N probably benign Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Fmnl2 T A 2: 53,103,761 N389K possibly damaging Het
Fn1 G A 1: 71,626,177 T927I probably damaging Het
Foxn1 T C 11: 78,371,163 K127E probably damaging Het
Fpr-rs6 A G 17: 20,182,346 F251S probably damaging Het
Frrs1 A G 3: 116,878,439 D62G probably damaging Het
Fut10 T A 8: 31,236,120 V301D probably damaging Het
Gk5 A G 9: 96,177,417 probably null Het
Glipr1l1 T A 10: 112,078,374 N213K probably benign Het
Gm1110 A G 9: 26,881,866 F538S probably benign Het
Gm11492 C T 11: 87,567,217 S139F possibly damaging Het
Gm5483 T C 16: 36,186,467 probably null Het
Gm7347 T A 5: 26,057,368 T52S probably benign Het
Gsap T C 5: 21,222,408 I178T probably damaging Het
Hcn1 A T 13: 117,603,020 Q106L unknown Het
Hils1 C A 11: 94,968,102 N74K probably damaging Het
Isg20l2 G T 3: 87,931,981 L166F possibly damaging Het
Kcnq3 T A 15: 66,004,763 E510D probably damaging Het
Kif26b G T 1: 178,928,330 R2003L probably damaging Het
Kiss1r T C 10: 79,918,807 V45A probably damaging Het
Krt14 G A 11: 100,207,206 R84* probably null Het
Mbd5 T C 2: 49,258,196 M806T possibly damaging Het
Mdga1 A T 17: 29,839,873 I13N possibly damaging Het
Mfsd4b5 T C 10: 39,974,762 K73E probably benign Het
Mterf2 C T 10: 85,119,732 G343R probably benign Het
Mto1 T A 9: 78,461,621 F522I probably benign Het
Myo18b T C 5: 112,790,057 E1734G probably damaging Het
Myoz1 T C 14: 20,653,719 T53A probably benign Het
Nos1 T A 5: 117,867,269 V18D probably damaging Het
Nova1 T C 12: 46,816,955 T71A unknown Het
Olfr1417 T C 19: 11,828,118 R303G probably benign Het
Olfr389 C G 11: 73,777,181 V49L probably benign Het
Olfr419 A G 1: 174,250,882 L15S possibly damaging Het
Olfr531 T C 7: 140,400,170 D292G probably damaging Het
Olfr690 A G 7: 105,329,604 V196A possibly damaging Het
Otof T A 5: 30,382,894 Y981F probably damaging Het
Peg10 C CTCA 6: 4,756,453 probably benign Het
Pex1 A G 5: 3,620,597 K7E probably damaging Het
Pi4ka A G 16: 17,303,082 S73P possibly damaging Het
Plxnb1 T A 9: 109,100,430 I118N possibly damaging Het
Prcc T C 3: 87,872,253 D158G probably damaging Het
Ptpn7 C A 1: 135,139,139 R245S possibly damaging Het
Ptpre C T 7: 135,669,132 H346Y probably benign Het
Pwp2 A G 10: 78,182,693 C86R probably benign Het
Rfng T G 11: 120,783,050 D178A probably damaging Het
Rhpn1 T C 15: 75,708,241 I51T probably damaging Het
Rnasel G T 1: 153,754,097 E120* probably null Het
Sall2 T G 14: 52,315,655 S26R possibly damaging Het
Scn10a A G 9: 119,622,921 V1312A possibly damaging Het
Sdk2 C A 11: 113,793,761 R1958L probably damaging Het
Slc52a2 T A 15: 76,540,551 C330S probably damaging Het
Smarca2 T A 19: 26,691,388 I987N possibly damaging Het
Srrt A T 5: 137,296,009 Y486N probably damaging Het
Stat5b A T 11: 100,805,005 N50K possibly damaging Het
Strip2 T A 6: 29,931,266 D405E probably benign Het
Tnc A T 4: 64,006,502 D986E probably damaging Het
Tph2 T C 10: 115,079,716 N473S probably benign Het
Tpp1 C T 7: 105,752,025 probably benign Het
Trpm3 T C 19: 22,711,712 Y2H probably damaging Het
Ttc21a A T 9: 119,966,129 E1072V probably damaging Het
Zfat T C 15: 68,178,913 D753G probably damaging Het
Zmym2 T A 14: 56,921,594 S609T 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
R5636:Naxd UTSW 8 11502676 missense probably benign 0.02
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'- AGAAAGCCTTTGATTGTGCTC -3'
(R):5'- AGCAAGCCCAGATCCAGTTG -3'

Sequencing Primer
(F):5'- GAAAGCCTTTGATTGTGCTCTTATC -3'
(R):5'- CAGCTATTTCTGAGAAGCCAAG -3'
Posted On 2016-05-10