Incidental Mutation 'D4043:Npas1'
ID269
Institutional Source Beutler Lab
Gene Symbol Npas1
Ensembl Gene ENSMUSG00000001988
Gene Nameneuronal PAS domain protein 1
SynonymsbHLHe11, MOP5
Accession Numbers

Genbank: NM_008718; MGI: 109205

Is this an essential gene? Possibly non essential (E-score: 0.411) question?
Stock #D4043 (G3) of strain 483
Quality Score
Status Validated
Chromosome7
Chromosomal Location16455721-16477728 bp(-) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) T to C at 16463244 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002053] [ENSMUST00000210748]
Predicted Effect probably null
Transcript: ENSMUST00000002053
SMART Domains Protein: ENSMUSP00000002053
Gene: ENSMUSG00000001988

DomainStartEndE-ValueType
low complexity region 7 23 N/A INTRINSIC
HLH 51 106 1.44e-6 SMART
low complexity region 109 128 N/A INTRINSIC
PAS 137 203 1.09e-11 SMART
low complexity region 212 223 N/A INTRINSIC
low complexity region 275 288 N/A INTRINSIC
PAS 294 360 5.32e-6 SMART
PAC 366 409 5.64e0 SMART
low complexity region 428 443 N/A INTRINSIC
low complexity region 478 489 N/A INTRINSIC
low complexity region 574 587 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000210748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211103
Meta Mutation Damage Score 0.5996 question?
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 72.5%
Validation Efficiency 88% (220/249)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110020G09Rik T A 15: 9,103,385 probably benign Homo
1700029J07Rik A G 8: 45,956,403 V293A probably damaging Het
Adam29 A T 8: 55,872,461 C319* probably null Het
Adgrg1 T C 8: 95,005,229 probably null Homo
Ago3 A T 4: 126,351,003 V630E probably damaging Het
Armc8 G T 9: 99,483,976 N628K probably benign Het
Chd7 A G 4: 8,862,650 D2579G probably damaging Het
Duox1 G A 2: 122,344,795 C1358Y probably benign Het
Fam208a A G 14: 27,471,992 I1050V probably benign Het
Ftsj3 C A 11: 106,254,808 M66I possibly damaging Homo
Iqub C T 6: 24,505,751 E53K possibly damaging Het
Kirrel T A 3: 87,083,203 T771S probably benign Het
Lrrc66 A T 5: 73,607,526 S725T probably benign Het
Mael T C 1: 166,236,886 I104M probably benign Homo
Mkks C T 2: 136,874,610 V457I probably benign Het
Ocrl T C X: 47,936,323 V359A probably benign Homo
Olfr1065 G A 2: 86,445,220 T254M probably damaging Het
Pde6b C T 5: 108,425,356 R531* probably null Het
Polr1a G A 6: 71,941,417 C653Y possibly damaging Het
Rbm26 A G 14: 105,152,540 V216A possibly damaging Het
Rin2 C A 2: 145,822,363 H52Q possibly damaging Het
Ssc5d C T 7: 4,943,983 T1112I possibly damaging Het
Sv2c C T 13: 96,088,481 V107M probably benign Het
Tulp3 G A 6: 128,324,150 S366L probably benign Het
Zfp831 T A 2: 174,645,266 V578E probably benign Homo
Other mutations in Npas1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Npas1 APN 7 16463322 missense probably benign 0.05
IGL01627:Npas1 APN 7 16465186 missense probably damaging 1.00
IGL02812:Npas1 APN 7 16456116 missense probably damaging 1.00
IGL03141:Npas1 APN 7 16465138 missense probably damaging 1.00
H8786:Npas1 UTSW 7 16461350 missense possibly damaging 0.51
R0218:Npas1 UTSW 7 16461893 missense probably benign 0.39
R1736:Npas1 UTSW 7 16474616 missense probably benign 0.24
R1795:Npas1 UTSW 7 16474800 missense probably damaging 1.00
R2093:Npas1 UTSW 7 16459277 missense probably benign
R2570:Npas1 UTSW 7 16474703 missense probably damaging 1.00
R4057:Npas1 UTSW 7 16474787 missense probably damaging 1.00
R4385:Npas1 UTSW 7 16459185 critical splice donor site probably null
R5937:Npas1 UTSW 7 16463262 missense probably benign 0.15
R6456:Npas1 UTSW 7 16461926 missense probably benign 0.44
Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to G transition at base pair 17048593 in the Genbank genomic region NC_000073 (Build 37.1) for the Npas1 gene on Chromosome 7 (GTAATTTCCA ->GTAGTTTCCA). The mutation is located within intron 5 from the ATG exon, four nucleotides from the previous exon. Npas1 gene contains 12 total exons, and 11 coding exons. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

 

 

Protein Function and Prediction
The Npas1 gene encodes a 594 amino acid protein expressed in brain inhibitory neurons and spinal cord. NPAS1 may control regulatory pathways relevant to schizophrenia and to psychotic illness, and may play a role in late central nervous system development by modulating EPO expression in response to cellular oxygen level. The protein contains a basic helix-loop-helix DNA-binding domain at residues 59-99, two PAS1 domains at residues 135-205 and 294-360, and a PAC domain at residues 366-409. PAS and PAC domains are often found in proteins where they are used as signal sensor domains (Uniprot P97459). Mice that lack both NPAS1 and the related transcription factor NPAS3, display behavior and neurochemical abnormalities.  
Posted On2010-08-13