Incidental Mutation 'IGL02955:Npas3'
ID365073
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npas3
Ensembl Gene ENSMUSG00000021010
Gene Nameneuronal PAS domain protein 3
Synonyms4930423H22Rik, bHLHe12
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.877) question?
Stock #IGL02955
Quality Score
Status
Chromosome12
Chromosomal Location53248677-54072175 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 53501265 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 101 (N101K)
Ref Sequence ENSEMBL: ENSMUSP00000152411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101432] [ENSMUST00000220986] [ENSMUST00000223057] [ENSMUST00000223358]
Predicted Effect probably damaging
Transcript: ENSMUST00000101432
AA Change: N131K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000098975
Gene: ENSMUSG00000021010
AA Change: N131K

DomainStartEndE-ValueType
HLH 64 119 1.34e-6 SMART
PAS 154 220 8.69e-11 SMART
low complexity region 234 256 N/A INTRINSIC
PAS 326 392 7.4e-5 SMART
PAC 398 441 2.46e-1 SMART
low complexity region 461 477 N/A INTRINSIC
low complexity region 524 544 N/A INTRINSIC
low complexity region 598 627 N/A INTRINSIC
low complexity region 696 709 N/A INTRINSIC
low complexity region 739 754 N/A INTRINSIC
low complexity region 759 773 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000220986
Predicted Effect probably benign
Transcript: ENSMUST00000223057
AA Change: N94K

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably damaging
Transcript: ENSMUST00000223358
AA Change: N101K

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
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 member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and mental retardation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for some knock-out alleles exhibit abnormal behavior and nervous system morphology. Mice homozygous for another knock-out allele exhibit defective lung branching morphogenesis and die shortly after birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T A 11: 76,419,165 H840L probably damaging Het
Anks1 A G 17: 28,054,317 D970G probably damaging Het
B4galnt4 A G 7: 141,064,678 K162R probably null Het
Bicd2 T C 13: 49,378,215 V311A probably benign Het
Ccdc162 A G 10: 41,561,127 L489P probably damaging Het
Cd55 G T 1: 130,449,482 T38K probably damaging Het
Cep250 C A 2: 155,975,756 A749E probably benign Het
Cntn3 G T 6: 102,278,301 T212N probably damaging Het
Cntnap5c T A 17: 57,892,102 probably benign Het
Dclre1c A G 2: 3,438,052 E83G probably damaging Het
Dok4 T C 8: 94,865,628 N244S probably damaging Het
Dync2h1 T C 9: 7,142,864 T1151A probably benign Het
Fer G A 17: 63,991,717 probably null Het
Gif T C 19: 11,747,663 L6P possibly damaging Het
Hexb A G 13: 97,181,076 probably benign Het
Ints5 T C 19: 8,897,650 L991P probably damaging Het
Itga5 T C 15: 103,350,834 D722G possibly damaging Het
Jup A G 11: 100,376,739 I586T probably benign Het
Lig1 G A 7: 13,296,347 G417R probably damaging Het
Lig4 A G 8: 9,972,103 I559T possibly damaging Het
Mcm3ap A G 10: 76,507,466 I1731V probably benign Het
Mfsd13a T G 19: 46,367,753 V99G possibly damaging Het
Nelfcd A G 2: 174,422,598 H153R probably damaging Het
Nlrp1b A G 11: 71,169,811 Y724H possibly damaging Het
Nuf2 A G 1: 169,507,238 probably benign Het
Olfr1349 T C 7: 6,514,683 T249A probably damaging Het
Olfr368 A T 2: 37,332,001 M85L probably benign Het
Olfr740 C T 14: 50,453,985 T311I probably damaging Het
Polr3c A G 3: 96,714,312 Y423H probably damaging Het
Pomgnt2 A G 9: 121,982,890 L275P probably damaging Het
Ptprj T G 2: 90,468,464 probably null Het
Pxdn T C 12: 30,003,157 I931T probably damaging Het
Rad51b C T 12: 79,325,082 Q190* probably null Het
Rpl10a T C 17: 28,328,993 I36T probably damaging Het
Tagap1 T C 17: 6,956,382 H305R probably damaging Het
Tmem154 A G 3: 84,684,201 probably benign Het
Vil1 A G 1: 74,418,523 E105G probably benign Het
Wdfy4 C A 14: 33,076,284 C2055F probably damaging Het
Zfat T C 15: 68,181,114 N277S probably damaging Het
Other mutations in Npas3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Npas3 APN 12 54003560 missense probably damaging 1.00
IGL01330:Npas3 APN 12 54048819 missense probably damaging 1.00
IGL01376:Npas3 APN 12 54044586 missense probably benign 0.01
IGL01634:Npas3 APN 12 53947163 missense probably damaging 1.00
IGL02456:Npas3 APN 12 54048767 missense probably damaging 0.99
IGL02663:Npas3 APN 12 54068908 missense probably damaging 1.00
IGL02731:Npas3 APN 12 54067795 missense probably benign 0.01
IGL03001:Npas3 APN 12 53501192 missense probably damaging 1.00
IGL03047:Npas3 APN 12 53831687 splice site probably benign
ANU05:Npas3 UTSW 12 54068074 missense possibly damaging 0.49
IGL02837:Npas3 UTSW 12 53947197 missense possibly damaging 0.79
R0042:Npas3 UTSW 12 54048841 missense probably damaging 1.00
R0042:Npas3 UTSW 12 54048841 missense probably damaging 1.00
R0396:Npas3 UTSW 12 53831745 missense probably damaging 1.00
R1687:Npas3 UTSW 12 54048875 splice site probably null
R1863:Npas3 UTSW 12 54068826 missense probably damaging 1.00
R2004:Npas3 UTSW 12 54067897 missense possibly damaging 0.63
R2047:Npas3 UTSW 12 54068829 missense probably damaging 0.99
R2049:Npas3 UTSW 12 54062088 missense probably damaging 1.00
R2278:Npas3 UTSW 12 53640502 missense possibly damaging 0.92
R2323:Npas3 UTSW 12 54068346 missense probably damaging 1.00
R2871:Npas3 UTSW 12 54068013 nonsense probably null
R2871:Npas3 UTSW 12 54068013 nonsense probably null
R3116:Npas3 UTSW 12 54067725 splice site probably null
R3431:Npas3 UTSW 12 54069049 missense probably damaging 0.99
R3731:Npas3 UTSW 12 53354392 missense probably benign 0.11
R3767:Npas3 UTSW 12 54069074 makesense probably null
R4332:Npas3 UTSW 12 54062069 missense probably damaging 0.99
R4593:Npas3 UTSW 12 54068497 missense probably benign 0.08
R4601:Npas3 UTSW 12 54044578 missense probably damaging 0.99
R4654:Npas3 UTSW 12 54062132 critical splice donor site probably null
R4946:Npas3 UTSW 12 54065835 missense probably damaging 1.00
R5140:Npas3 UTSW 12 53501114 nonsense probably null
R5302:Npas3 UTSW 12 54068836 missense probably damaging 1.00
R5524:Npas3 UTSW 12 54068938 missense possibly damaging 0.64
R5735:Npas3 UTSW 12 54003479 missense probably benign 0.00
R6252:Npas3 UTSW 12 54068890 missense probably damaging 1.00
R6438:Npas3 UTSW 12 54068698 missense probably damaging 0.99
R6987:Npas3 UTSW 12 54068253 missense possibly damaging 0.94
R6994:Npas3 UTSW 12 54068793 missense probably damaging 0.96
R7304:Npas3 UTSW 12 54069041 missense probably damaging 1.00
R7684:Npas3 UTSW 12 54068826 missense probably damaging 1.00
R7724:Npas3 UTSW 12 54068341 missense possibly damaging 0.90
R7739:Npas3 UTSW 12 54068718 missense probably damaging 1.00
R7826:Npas3 UTSW 12 53831756 missense possibly damaging 0.92
R8017:Npas3 UTSW 12 54044679 missense probably damaging 1.00
R8019:Npas3 UTSW 12 54044679 missense probably damaging 1.00
R8034:Npas3 UTSW 12 53640529 missense probably damaging 1.00
X0003:Npas3 UTSW 12 54044728 splice site probably null
X0064:Npas3 UTSW 12 53354384 missense probably damaging 0.96
Z1176:Npas3 UTSW 12 53501180 missense probably damaging 0.99
Z1177:Npas3 UTSW 12 53947206 missense probably damaging 1.00
Posted On2015-12-18