Incidental Mutation 'IGL03340:Npas4'
ID417209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npas4
Ensembl Gene ENSMUSG00000045903
Gene Nameneuronal PAS domain protein 4
SynonymsNpas4, LE-PAS, Nxf
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.641) question?
Stock #IGL03340
Quality Score
Status
Chromosome19
Chromosomal Location4984355-4989971 bp(-) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) A to T at 4985066 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000062992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056129]
Predicted Effect probably benign
Transcript: ENSMUST00000056129
SMART Domains Protein: ENSMUSP00000062992
Gene: ENSMUSG00000045903

DomainStartEndE-ValueType
Blast:HLH 6 56 1e-26 BLAST
low complexity region 57 69 N/A INTRINSIC
PAS 72 140 1.88e-6 SMART
low complexity region 197 211 N/A INTRINSIC
PAS 213 273 5.66e-1 SMART
internal_repeat_1 394 473 1.35e-6 PROSPERO
internal_repeat_1 467 556 1.35e-6 PROSPERO
low complexity region 657 676 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NXF is a member of the basic helix-loop-helix-PER (MIM 602260)-ARNT (MIM 126110)-SIM (see SIM2; MIM 600892) (bHLH-PAS) class of transcriptional regulators, which are involved in a wide range of physiologic and developmental events (Ooe et al., 2004 [PubMed 14701734]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit hyperactivity, seizures and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,080,001 L26P probably benign Het
Aff1 A T 5: 103,783,804 H104L possibly damaging Het
Apon T C 10: 128,254,978 I175T probably benign Het
C2cd6 A C 1: 59,076,671 F168V probably benign Het
Cgn C T 3: 94,778,095 probably benign Het
Cramp1l G A 17: 24,973,542 P956L probably damaging Het
Cyp2e1 G A 7: 140,764,854 V78M probably damaging Het
Cyp4b1 G A 4: 115,641,879 P97S probably damaging Het
Fads2 G T 19: 10,091,772 P96Q possibly damaging Het
Fam160a2 A G 7: 105,389,310 S241P probably damaging Het
Fcer2a T C 8: 3,688,310 D120G possibly damaging Het
Gm21972 G T 1: 86,133,728 A887S probably damaging Het
Grk6 A G 13: 55,453,190 D295G probably damaging Het
Herc2 T A 7: 56,090,920 V270D possibly damaging Het
Kcnk2 T A 1: 189,295,681 I126F possibly damaging Het
Kifap3 T G 1: 163,829,149 V346G possibly damaging Het
Kpna1 T A 16: 36,000,246 N20K probably damaging Het
Krt33b A G 11: 100,025,472 probably benign Het
Krtap9-5 T C 11: 99,948,601 C43R possibly damaging Het
Lars G A 18: 42,228,650 probably benign Het
Lifr T C 15: 7,177,936 W540R probably benign Het
Lrp1b A G 2: 41,468,969 S631P probably damaging Het
Mbd1 G T 18: 74,274,482 R111L probably benign Het
Meltf C T 16: 31,892,784 T576M probably damaging Het
Mmp20 G A 9: 7,643,994 G228S probably damaging Het
Mob4 A G 1: 55,136,708 D37G possibly damaging Het
Msr1 T C 8: 39,620,007 K234E possibly damaging Het
Myof A G 19: 37,911,159 V1764A probably damaging Het
Naaladl1 A G 19: 6,106,199 Y105C possibly damaging Het
Nisch A G 14: 31,173,144 V1065A probably damaging Het
Olfr1232 T C 2: 89,325,695 T162A possibly damaging Het
Pdss2 A G 10: 43,394,001 D280G probably benign Het
Plk3 A G 4: 117,132,928 I182T probably damaging Het
Ppm1k A G 6: 57,510,726 W371R probably damaging Het
Samm50 T C 15: 84,198,663 probably null Het
Scaper G T 9: 55,602,832 T640K possibly damaging Het
Sun3 A C 11: 9,023,285 probably benign Het
Svep1 T A 4: 58,111,451 K1056M possibly damaging Het
Tgs1 C A 4: 3,604,813 P745Q probably benign Het
Tomm20l A T 12: 71,117,614 probably benign Het
Usp38 A C 8: 81,012,276 L237V probably damaging Het
Vmn1r210 T C 13: 22,827,474 Y214C probably benign Het
Zan G A 5: 137,427,874 P2547S unknown Het
Other mutations in Npas4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Npas4 APN 19 4987327 missense possibly damaging 0.93
IGL01865:Npas4 APN 19 4985791 nonsense probably null
IGL02746:Npas4 APN 19 4986667 missense probably damaging 0.99
IGL03061:Npas4 APN 19 4986337 missense probably damaging 1.00
R0879:Npas4 UTSW 19 4986916 missense probably benign
R0920:Npas4 UTSW 19 4986316 nonsense probably null
R1751:Npas4 UTSW 19 4988183 missense probably benign 0.05
R1767:Npas4 UTSW 19 4988183 missense probably benign 0.05
R2066:Npas4 UTSW 19 4987414 missense probably damaging 0.99
R2201:Npas4 UTSW 19 4987364 missense probably benign 0.06
R3973:Npas4 UTSW 19 4986551 missense probably benign
R4117:Npas4 UTSW 19 4987363 missense probably damaging 0.99
R4846:Npas4 UTSW 19 4986777 missense probably benign 0.34
R5007:Npas4 UTSW 19 4989656 missense possibly damaging 0.61
R6155:Npas4 UTSW 19 4986870 missense probably damaging 1.00
R6255:Npas4 UTSW 19 4986375 missense probably damaging 1.00
R6488:Npas4 UTSW 19 4985983 missense probably damaging 1.00
R8427:Npas4 UTSW 19 4986080 missense probably benign
Z1177:Npas4 UTSW 19 4986242 missense probably damaging 1.00
Posted On2016-08-02