Incidental Mutation 'IGL03141:Npas1'
ID 410701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npas1
Ensembl Gene ENSMUSG00000001988
Gene Name neuronal PAS domain protein 1
Synonyms MOP5, bHLHe11
Accession Numbers
Essential gene? Probably essential (E-score: 0.822) question?
Stock # IGL03141
Quality Score
Status
Chromosome 7
Chromosomal Location 16189643-16210741 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16199063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 164 (E164G)
Ref Sequence ENSEMBL: ENSMUSP00000147412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002053] [ENSMUST00000210748]
AlphaFold P97459
Predicted Effect probably damaging
Transcript: ENSMUST00000002053
AA Change: E164G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002053
Gene: ENSMUSG00000001988
AA Change: E164G

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 damaging
Transcript: ENSMUST00000210748
AA Change: E164G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211103
Coding Region Coverage
Validation Efficiency
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm2 T C 15: 89,207,531 (GRCm39) I14T probably benign Het
AY761185 G A 8: 21,434,576 (GRCm39) R51C possibly damaging Het
Cenpt T A 8: 106,578,573 (GRCm39) T15S probably damaging Het
Cotl1 T C 8: 120,537,022 (GRCm39) K131E possibly damaging Het
D5Ertd579e T A 5: 36,770,621 (GRCm39) D1258V possibly damaging Het
Decr1 A T 4: 15,932,902 (GRCm39) I88K probably damaging Het
Efcab3 T C 11: 104,986,696 (GRCm39) S5408P probably damaging Het
Gsto2 T C 19: 47,863,312 (GRCm39) Y63H probably damaging Het
Lrp2 A T 2: 69,307,370 (GRCm39) D2896E probably damaging Het
Lrrc3b T G 14: 15,358,390 (GRCm38) D72A probably damaging Het
Or6f1 T A 7: 85,970,909 (GRCm39) I84F probably damaging Het
Parp14 C A 16: 35,659,663 (GRCm39) R1653L probably benign Het
Polq A G 16: 36,837,720 (GRCm39) probably benign Het
Sec31b A T 19: 44,514,759 (GRCm39) probably benign Het
Slc7a11 C T 3: 50,336,334 (GRCm39) A337T possibly damaging Het
Snapc3 A G 4: 83,353,523 (GRCm39) I187M probably damaging Het
Sorcs2 T C 5: 36,222,699 (GRCm39) E352G probably benign Het
Spout1 A C 2: 30,065,067 (GRCm39) V311G probably damaging Het
Syne1 T A 10: 5,374,261 (GRCm39) K182M probably damaging Het
Vmn2r110 A G 17: 20,803,976 (GRCm39) S200P possibly damaging Het
Other mutations in Npas1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Npas1 APN 7 16,197,247 (GRCm39) missense probably benign 0.05
IGL01627:Npas1 APN 7 16,199,111 (GRCm39) missense probably damaging 1.00
IGL02812:Npas1 APN 7 16,190,041 (GRCm39) missense probably damaging 1.00
D4043:Npas1 UTSW 7 16,197,169 (GRCm39) splice site probably null
H8786:Npas1 UTSW 7 16,195,275 (GRCm39) missense possibly damaging 0.51
R0218:Npas1 UTSW 7 16,195,818 (GRCm39) missense probably benign 0.39
R1736:Npas1 UTSW 7 16,208,541 (GRCm39) missense probably benign 0.24
R1795:Npas1 UTSW 7 16,208,725 (GRCm39) missense probably damaging 1.00
R2093:Npas1 UTSW 7 16,193,202 (GRCm39) missense probably benign
R2570:Npas1 UTSW 7 16,208,628 (GRCm39) missense probably damaging 1.00
R4057:Npas1 UTSW 7 16,208,712 (GRCm39) missense probably damaging 1.00
R4385:Npas1 UTSW 7 16,193,110 (GRCm39) critical splice donor site probably null
R5937:Npas1 UTSW 7 16,197,187 (GRCm39) missense probably benign 0.15
R6456:Npas1 UTSW 7 16,195,851 (GRCm39) missense probably benign 0.44
R7195:Npas1 UTSW 7 16,208,733 (GRCm39) missense probably damaging 1.00
R7544:Npas1 UTSW 7 16,194,899 (GRCm39) splice site probably null
R8221:Npas1 UTSW 7 16,189,890 (GRCm39) missense probably damaging 1.00
R8393:Npas1 UTSW 7 16,195,266 (GRCm39) missense probably damaging 1.00
R9158:Npas1 UTSW 7 16,195,333 (GRCm39) missense possibly damaging 0.53
R9382:Npas1 UTSW 7 16,190,231 (GRCm39) critical splice acceptor site probably null
R9653:Npas1 UTSW 7 16,190,146 (GRCm39) missense probably benign 0.00
Z1177:Npas1 UTSW 7 16,196,178 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02