Incidental Mutation 'IGL03286:Noxa1'
ID415747
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Noxa1
Ensembl Gene ENSMUSG00000036805
Gene NameNADPH oxidase activator 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03286
Quality Score
Status
Chromosome2
Chromosomal Location25085667-25095149 bp(-) (GRCm38)
Type of Mutationunclassified (4 bp from exon)
DNA Base Change (assembly) A to G at 25085720 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044018] [ENSMUST00000044078] [ENSMUST00000114373] [ENSMUST00000114376] [ENSMUST00000114380] [ENSMUST00000150625]
Predicted Effect probably benign
Transcript: ENSMUST00000044018
SMART Domains Protein: ENSMUSP00000037423
Gene: ENSMUSG00000036805

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 null
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 benign
Transcript: ENSMUST00000114373
SMART Domains Protein: ENSMUSP00000110014
Gene: ENSMUSG00000036805

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 null
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 null
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 probably benign
Transcript: ENSMUST00000150625
SMART Domains Protein: ENSMUSP00000142316
Gene: ENSMUSG00000036813

DomainStartEndE-ValueType
Pfam:GDA1_CD39 1 41 8.4e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152326
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox1 G A 1: 58,049,384 G110S probably benign Het
Arhgap32 T C 9: 32,259,520 S1548P probably benign Het
Cacna1s A G 1: 136,077,659 D147G probably benign Het
Calcoco2 A G 11: 96,103,272 V116A possibly damaging Het
Chd5 A T 4: 152,385,495 M1842L probably benign Het
Comt T C 16: 18,411,740 D73G probably damaging Het
Ctnna1 A G 18: 35,175,153 I175M probably benign Het
Dnah6 A T 6: 73,083,085 Y2839N probably damaging Het
Dph7 T A 2: 24,966,616 H193Q probably damaging Het
Eif2b5 A G 16: 20,502,262 D258G probably damaging Het
Eml5 T C 12: 98,860,503 D630G probably damaging Het
Ext2 C T 2: 93,707,272 V590M probably damaging Het
Fchsd2 T C 7: 101,259,775 probably null Het
Gm13272 A G 4: 88,780,349 Q167R probably benign Het
Gm21834 A G 17: 57,741,927 V98A possibly damaging Het
Grid1 T A 14: 35,520,685 probably benign Het
H2-DMa T A 17: 34,137,109 probably null Het
Ighv5-17 T G 12: 113,859,177 E108A possibly damaging Het
Invs A G 4: 48,382,261 T144A probably benign Het
Ipo9 A G 1: 135,407,078 probably benign Het
Itga4 A T 2: 79,289,362 Y504F probably damaging Het
Krt5 A G 15: 101,707,548 F544S unknown Het
Larp4 A G 15: 99,986,086 Y67C probably damaging Het
Msh2 T C 17: 87,682,667 M261T possibly damaging Het
Nav1 A T 1: 135,454,536 C1367S probably benign Het
Nox4 T A 7: 87,370,141 probably benign Het
Olfr1450 A C 19: 12,954,168 Y193S probably benign Het
Olfr414 A C 1: 174,431,177 I250L probably benign Het
Pde4d T A 13: 109,954,506 probably benign Het
Pdlim2 C T 14: 70,174,476 G36S possibly damaging Het
Plekhm2 A G 4: 141,634,347 S262P possibly damaging Het
Pnpla6 C A 8: 3,531,473 T582K probably damaging Het
Rap1b A T 10: 117,818,575 L120* probably null Het
Rft1 C T 14: 30,661,366 T121I probably benign Het
Scn1a A G 2: 66,277,576 I1613T probably damaging Het
Slc47a2 T G 11: 61,342,467 E79A possibly damaging Het
Slc9a4 A G 1: 40,580,768 I85V probably null Het
Slfn8 A T 11: 83,013,468 F365L probably damaging Het
Smcr8 T A 11: 60,778,027 probably benign Het
Sntb1 T C 15: 55,792,046 D258G possibly damaging Het
Sorbs1 A G 19: 40,344,414 I520T probably damaging Het
Sptbn2 T C 19: 4,747,832 S1896P probably damaging Het
Sptlc3 G A 2: 139,589,659 G367D probably damaging Het
Stab1 C T 14: 31,159,326 probably benign Het
Tars2 T C 3: 95,754,755 probably benign Het
Tchhl1 C T 3: 93,471,123 A378V probably benign Het
Tet3 A T 6: 83,375,778 F1012Y probably damaging Het
Tuba8 A G 6: 121,222,954 D199G possibly damaging Het
Vmn2r110 T A 17: 20,584,206 T151S possibly damaging Het
Xirp2 T C 2: 67,516,310 I2965T probably damaging Het
Zfp688 T A 7: 127,419,531 M141L probably benign Het
Other mutations in Noxa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Noxa1 APN 2 25094902 missense probably benign 0.37
IGL01316:Noxa1 APN 2 25086011 missense probably benign 0.22
IGL02274:Noxa1 APN 2 25085755 missense probably benign 0.15
IGL02528:Noxa1 APN 2 25090633 unclassified probably benign
IGL02952:Noxa1 APN 2 25091761 missense probably damaging 1.00
IGL03330:Noxa1 APN 2 25090514 missense possibly damaging 0.48
R0322:Noxa1 UTSW 2 25092554 missense probably damaging 1.00
R0357:Noxa1 UTSW 2 25085850 missense probably damaging 1.00
R0636:Noxa1 UTSW 2 25086094 unclassified probably benign
R0909:Noxa1 UTSW 2 25091794 missense probably damaging 1.00
R1459:Noxa1 UTSW 2 25092546 missense probably benign 0.06
R1702:Noxa1 UTSW 2 25092584 missense probably damaging 1.00
R1958:Noxa1 UTSW 2 25090608 missense probably damaging 0.99
R4618:Noxa1 UTSW 2 25091749 missense probably damaging 1.00
R5104:Noxa1 UTSW 2 25086234 missense probably benign 0.18
R5606:Noxa1 UTSW 2 25086280 missense possibly damaging 0.67
R5619:Noxa1 UTSW 2 25085976 missense probably damaging 0.99
R5826:Noxa1 UTSW 2 25086241 missense probably damaging 0.98
R6076:Noxa1 UTSW 2 25085809 missense probably damaging 1.00
R6920:Noxa1 UTSW 2 25091832 splice site probably null
X0021:Noxa1 UTSW 2 25090214 missense possibly damaging 0.95
X0025:Noxa1 UTSW 2 25090491 critical splice donor site probably null
Posted On2016-08-02