Incidental Mutation 'R6076:Noxa1'
ID 482726
Institutional Source Beutler Lab
Gene Symbol Noxa1
Ensembl Gene ENSMUSG00000036805
Gene Name NADPH oxidase activator 1
Synonyms
MMRRC Submission 044237-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6076 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 24975679-24985161 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24975821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 409 (I409N)
Ref Sequence ENSEMBL: ENSMUSP00000110014 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044018] [ENSMUST00000044078] [ENSMUST00000114373] [ENSMUST00000114376] [ENSMUST00000114380] [ENSMUST00000150625]
AlphaFold Q8CJ00
Predicted Effect probably damaging
Transcript: ENSMUST00000044018
AA Change: I417N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037423
Gene: ENSMUSG00000036805
AA Change: I417N

DomainStartEndE-ValueType
TPR 38 71 8.17e-1 SMART
TPR 72 105 1.47e-2 SMART
TPR 122 155 1.97e1 SMART
low complexity region 166 180 N/A INTRINSIC
low complexity region 258 274 N/A INTRINSIC
PB1 285 365 6.76e-9 SMART
SH3 372 427 1.81e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000044078
SMART Domains Protein: ENSMUSP00000040628
Gene: ENSMUSG00000036813

DomainStartEndE-ValueType
Pfam:GDA1_CD39 34 463 1.8e-106 PFAM
transmembrane domain 472 494 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114373
AA Change: I409N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110014
Gene: ENSMUSG00000036805
AA Change: I409N

DomainStartEndE-ValueType
TPR 38 71 8.17e-1 SMART
TPR 72 105 1.47e-2 SMART
TPR 122 155 1.97e1 SMART
low complexity region 166 180 N/A INTRINSIC
low complexity region 250 266 N/A INTRINSIC
PB1 277 357 6.76e-9 SMART
SH3 364 419 1.81e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114376
SMART Domains Protein: ENSMUSP00000110017
Gene: ENSMUSG00000036813

DomainStartEndE-ValueType
Pfam:GDA1_CD39 34 355 1.4e-77 PFAM
Pfam:GDA1_CD39 347 423 2.1e-11 PFAM
transmembrane domain 432 454 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114380
SMART Domains Protein: ENSMUSP00000110022
Gene: ENSMUSG00000036813

DomainStartEndE-ValueType
Pfam:GDA1_CD39 34 465 1.1e-100 PFAM
transmembrane domain 472 494 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152326
Predicted Effect probably benign
Transcript: ENSMUST00000150625
SMART Domains Protein: ENSMUSP00000142316
Gene: ENSMUSG00000036813

DomainStartEndE-ValueType
Pfam:GDA1_CD39 1 41 8.4e-8 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a targeted allele removing exons 3 through 6 exhibit no overt phenotypic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Atp6v0a1 T A 11: 100,945,886 (GRCm39) I723N probably damaging Het
C530025M09Rik T C 2: 149,672,670 (GRCm39) probably benign Het
Cdkn1a A G 17: 29,318,332 (GRCm39) K149E probably damaging Het
Cep70 T A 9: 99,180,558 (GRCm39) I571N probably damaging Het
Cimip4 T C 15: 78,270,427 (GRCm39) R114G possibly damaging Het
Col9a1 A T 1: 24,234,457 (GRCm39) probably benign Het
Csde1 G A 3: 102,948,545 (GRCm39) D132N possibly damaging Het
Dlk1 A G 12: 109,425,895 (GRCm39) Q256R probably damaging Het
Epha6 A T 16: 60,026,073 (GRCm39) D456E probably damaging Het
Ephx2 A G 14: 66,330,297 (GRCm39) V354A probably damaging Het
Fpr-rs4 A G 17: 18,242,317 (GRCm39) N108S probably damaging Het
Gimap1 C T 6: 48,719,521 (GRCm39) Q116* probably null Het
Gm10784 T C 13: 50,099,310 (GRCm39) noncoding transcript Het
Grid2ip G C 5: 143,373,130 (GRCm39) S736T probably benign Het
Hic1 T C 11: 75,058,154 (GRCm39) D245G probably damaging Het
Hpcal4 C A 4: 123,084,514 (GRCm39) Q148K probably benign Het
Hspa14 C T 2: 3,512,109 (GRCm39) S55N probably benign Het
Hspa1b G A 17: 35,176,473 (GRCm39) T504I probably damaging Het
Jchain G T 5: 88,675,631 (GRCm39) T3N probably benign Het
Kl C G 5: 150,876,466 (GRCm39) F95L probably damaging Het
Kndc1 A G 7: 139,481,954 (GRCm39) T115A probably damaging Het
Lrp8 G T 4: 107,704,656 (GRCm39) R292L possibly damaging Het
Lrrc15 T A 16: 30,091,806 (GRCm39) D511V probably benign Het
Mapk8 A G 14: 33,112,250 (GRCm39) C213R probably damaging Het
Mcph1 C T 8: 18,682,015 (GRCm39) P384L probably benign Het
Mrps7 T C 11: 115,495,713 (GRCm39) S84P probably damaging Het
Nceh1 A C 3: 27,333,344 (GRCm39) I147L probably benign Het
Or1p1c T C 11: 74,161,088 (GRCm39) I291T probably damaging Het
Pkd1 G A 17: 24,800,004 (GRCm39) G2975R probably benign Het
Ppip5k1 T C 2: 121,167,591 (GRCm39) D17G probably null Het
Prex2 T A 1: 11,256,174 (GRCm39) Y1182N probably benign Het
Rasa2 T C 9: 96,427,699 (GRCm39) N722S probably benign Het
Rcc1l A G 5: 134,198,167 (GRCm39) V155A possibly damaging Het
Rest A G 5: 77,430,821 (GRCm39) E1080G unknown Het
Sacs A T 14: 61,441,985 (GRCm39) K1344* probably null Het
Sec16a C T 2: 26,313,954 (GRCm39) E1884K probably damaging Het
Secisbp2 C A 13: 51,833,813 (GRCm39) T651K probably damaging Het
Sema3e A G 5: 14,291,100 (GRCm39) D620G probably benign Het
Slc6a17 A G 3: 107,379,387 (GRCm39) S553P possibly damaging Het
Smpd5 C A 15: 76,179,092 (GRCm39) N153K probably damaging Het
Ube2d4 T A 15: 58,718,992 (GRCm39) noncoding transcript Het
Vps13c A G 9: 67,818,884 (GRCm39) I1102V probably damaging Het
Wdr36 C A 18: 32,979,998 (GRCm39) S241Y probably damaging Het
Wdr7 T A 18: 63,872,348 (GRCm39) D427E probably damaging Het
Zfp945 G A 17: 23,070,432 (GRCm39) P489L probably damaging Het
Other mutations in Noxa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Noxa1 APN 2 24,984,914 (GRCm39) missense probably benign 0.37
IGL01316:Noxa1 APN 2 24,976,023 (GRCm39) missense probably benign 0.22
IGL02274:Noxa1 APN 2 24,975,767 (GRCm39) missense probably benign 0.15
IGL02528:Noxa1 APN 2 24,980,645 (GRCm39) unclassified probably benign
IGL02952:Noxa1 APN 2 24,981,773 (GRCm39) missense probably damaging 1.00
IGL03286:Noxa1 APN 2 24,975,732 (GRCm39) splice site probably null
IGL03330:Noxa1 APN 2 24,980,526 (GRCm39) missense possibly damaging 0.48
R0322:Noxa1 UTSW 2 24,982,566 (GRCm39) missense probably damaging 1.00
R0357:Noxa1 UTSW 2 24,975,862 (GRCm39) missense probably damaging 1.00
R0636:Noxa1 UTSW 2 24,976,106 (GRCm39) unclassified probably benign
R0909:Noxa1 UTSW 2 24,981,806 (GRCm39) missense probably damaging 1.00
R1459:Noxa1 UTSW 2 24,982,558 (GRCm39) missense probably benign 0.06
R1702:Noxa1 UTSW 2 24,982,596 (GRCm39) missense probably damaging 1.00
R1958:Noxa1 UTSW 2 24,980,620 (GRCm39) missense probably damaging 0.99
R4618:Noxa1 UTSW 2 24,981,761 (GRCm39) missense probably damaging 1.00
R5104:Noxa1 UTSW 2 24,976,246 (GRCm39) missense probably benign 0.18
R5606:Noxa1 UTSW 2 24,976,292 (GRCm39) missense possibly damaging 0.67
R5619:Noxa1 UTSW 2 24,975,988 (GRCm39) missense probably damaging 0.99
R5826:Noxa1 UTSW 2 24,976,253 (GRCm39) missense probably damaging 0.98
R6920:Noxa1 UTSW 2 24,981,844 (GRCm39) splice site probably null
R8112:Noxa1 UTSW 2 24,982,553 (GRCm39) critical splice donor site probably null
R8794:Noxa1 UTSW 2 24,984,852 (GRCm39) missense probably benign 0.00
R9783:Noxa1 UTSW 2 24,985,053 (GRCm39) start gained probably benign
X0021:Noxa1 UTSW 2 24,980,226 (GRCm39) missense possibly damaging 0.95
X0025:Noxa1 UTSW 2 24,980,503 (GRCm39) critical splice donor site probably null
Z1176:Noxa1 UTSW 2 24,980,285 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AGCTTCTTCACACAAGAGCCTG -3'
(R):5'- CCTGTGTGAAGGTAAAAGGCTG -3'

Sequencing Primer
(F):5'- CTTCACACAAGAGCCTGTGGTTG -3'
(R):5'- AGGCTGCCCTTTCCTGC -3'
Posted On 2017-07-14