Incidental Mutation 'IGL01325:Npas1'
ID 74239
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npas1
Ensembl Gene ENSMUSG00000001988
Gene Name neuronal PAS domain protein 1
Synonyms bHLHe11, MOP5
Accession Numbers

Genbank: NM_008718; MGI: 109205
Essential gene? Probably essential (E-score: 0.780) question?
Stock # IGL01325
Quality Score
Status
Chromosome 7
Chromosomal Location 16455721-16477728 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 16463322 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 206 (G206D)
Ref Sequence ENSEMBL: ENSMUSP00000147412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002053] [ENSMUST00000210748]
AlphaFold P97459
Predicted Effect probably benign
Transcript: ENSMUST00000002053
AA Change: G206D

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000002053
Gene: ENSMUSG00000001988
AA Change: G206D

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 benign
Transcript: ENSMUST00000210748
AA Change: G206D

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 60,853,533 T127A probably damaging Het
Acrv1 T A 9: 36,698,514 M227K probably benign Het
Adam22 T C 5: 8,127,333 N592S probably benign Het
Adamts15 T A 9: 30,921,688 I184F possibly damaging Het
Adcy1 T C 11: 7,064,102 V168A possibly damaging Het
Arl6ip5 T C 6: 97,232,540 F179L probably benign Het
Asxl2 G T 12: 3,427,172 R6L probably damaging Het
Btaf1 T A 19: 37,004,649 probably benign Het
Ccdc136 T C 6: 29,412,950 F445L probably benign Het
Cpne3 T C 4: 19,535,229 S268G probably benign Het
Crtc3 C T 7: 80,677,368 R70Q probably damaging Het
Fam169a C A 13: 97,122,699 A421E probably benign Het
Fhod1 A T 8: 105,331,649 M825K probably benign Het
Gjb2 T C 14: 57,100,221 T177A probably benign Het
Gm6576 A G 15: 27,025,884 noncoding transcript Het
Herpud2 A G 9: 25,113,911 V175A probably benign Het
Hmgxb3 T C 18: 61,134,006 D1052G probably damaging Het
Itpr1 T A 6: 108,381,208 F578L probably benign Het
Kdm7a T G 6: 39,158,309 probably benign Het
Krt76 A T 15: 101,884,888 S572T unknown Het
Lrrcc1 T C 3: 14,536,541 probably null Het
March9 A C 10: 127,057,590 V183G probably damaging Het
Mkl2 T C 16: 13,401,224 V578A probably damaging Het
Ndufaf6 A T 4: 11,070,251 D123E probably benign Het
Nhlh2 T G 3: 102,013,026 Y125D probably damaging Het
Nol4l A G 2: 153,436,351 probably benign Het
Olfr651 T C 7: 104,553,689 F257L probably damaging Het
Olfr994 C A 2: 85,430,295 C178F possibly damaging Het
Pcdhb4 T A 18: 37,309,623 V662E probably damaging Het
Plxna3 G A X: 74,335,794 G758S probably damaging Het
Prdm15 T A 16: 97,806,517 N709Y probably damaging Het
Pygo2 C T 3: 89,432,446 probably benign Het
Ranbp2 T A 10: 58,476,298 S947T probably damaging Het
Rasgrp1 T A 2: 117,298,529 H203L probably damaging Het
Rbbp6 G A 7: 122,988,618 G270R probably damaging Het
Rcl1 A G 19: 29,121,262 probably null Het
Rpl23a-ps1 T C 1: 45,981,633 noncoding transcript Het
Serpinb7 T G 1: 107,435,380 H91Q probably damaging Het
Shd C T 17: 55,972,839 P111S possibly damaging Het
Slc35e1 G T 8: 72,483,758 probably benign Het
Srgap3 C T 6: 112,775,686 R279H probably damaging Het
Sstr4 G A 2: 148,395,552 E28K probably benign Het
Stip1 T C 19: 7,021,096 probably benign Het
Syne2 A G 12: 75,926,514 E1097G probably benign Het
Tbcd T A 11: 121,540,993 V489E probably damaging Het
Tnks2 T A 19: 36,871,633 S516R probably benign Het
Trmt44 T A 5: 35,568,803 R343S possibly damaging Het
Trps1 A G 15: 50,846,814 S47P probably benign Het
Ubr3 A C 2: 69,917,097 K235Q possibly damaging Het
Uckl1 G A 2: 181,574,961 Q48* probably null Het
Vat1 T C 11: 101,465,715 D140G probably benign Het
Vmn2r80 A G 10: 79,194,247 T636A possibly damaging Het
Zfp423 A T 8: 87,781,611 probably null Het
Zfp667 C A 7: 6,290,546 T15N probably damaging Het
Other mutations in Npas1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
D4043:Npas1 UTSW 7 16463244 splice site probably null
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
R7195:Npas1 UTSW 7 16474808 missense probably damaging 1.00
R7544:Npas1 UTSW 7 16460974 splice site probably null
R8221:Npas1 UTSW 7 16455965 missense probably damaging 1.00
R8393:Npas1 UTSW 7 16461341 missense probably damaging 1.00
R9158:Npas1 UTSW 7 16461408 missense possibly damaging 0.53
R9382:Npas1 UTSW 7 16456306 critical splice acceptor site probably null
R9653:Npas1 UTSW 7 16456221 missense probably benign 0.00
Z1177:Npas1 UTSW 7 16462253 missense probably benign 0.00
Posted On 2013-10-07