Incidental Mutation 'IGL03061:Npas4'
ID 409454
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Npas4
Ensembl Gene ENSMUSG00000045903
Gene Name neuronal PAS domain protein 4
Synonyms Nxf, LE-PAS, Npas4
Accession Numbers
Essential gene? Possibly essential (E-score: 0.627) question?
Stock # IGL03061
Quality Score
Status
Chromosome 19
Chromosomal Location 5034383-5040344 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 5036365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 600 (V600M)
Ref Sequence ENSEMBL: ENSMUSP00000062992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056129]
AlphaFold Q8BGD7
Predicted Effect probably damaging
Transcript: ENSMUST00000056129
AA Change: V600M

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000062992
Gene: ENSMUSG00000045903
AA Change: V600M

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,961,374 (GRCm39) N106K probably damaging Het
Ak8 T C 2: 28,632,767 (GRCm39) probably benign Het
BC016579 C T 16: 45,449,849 (GRCm39) G190S probably damaging Het
C4bp A G 1: 130,564,454 (GRCm39) V410A probably damaging Het
Cacna2d3 T C 14: 28,780,388 (GRCm39) T658A probably damaging Het
Cadps2 T C 6: 23,287,659 (GRCm39) probably null Het
Car10 G T 11: 93,381,351 (GRCm39) V105F probably damaging Het
Car15 C T 16: 17,653,249 (GRCm39) C306Y possibly damaging Het
Casr C T 16: 36,316,250 (GRCm39) A530T probably benign Het
Col5a3 A G 9: 20,708,868 (GRCm39) probably null Het
Creld1 A G 6: 113,465,058 (GRCm39) E95G probably damaging Het
Dcstamp T A 15: 39,623,793 (GRCm39) D366E possibly damaging Het
Dnah11 T C 12: 117,866,856 (GRCm39) Y4095C probably damaging Het
Eps8l2 A G 7: 140,937,148 (GRCm39) probably benign Het
Gsn T C 2: 35,172,471 (GRCm39) probably benign Het
Ifi27l2a T C 12: 103,401,803 (GRCm39) V30A possibly damaging Het
Ifit1bl2 C T 19: 34,597,124 (GRCm39) R164Q probably benign Het
Impg2 T C 16: 56,088,779 (GRCm39) S1102P probably damaging Het
Kif24 G T 4: 41,394,323 (GRCm39) P984Q possibly damaging Het
Krtap29-1 T A 11: 99,869,455 (GRCm39) Q142L possibly damaging Het
Lpar6 C T 14: 73,476,510 (GRCm39) T157I probably benign Het
Lrrc32 A T 7: 98,148,629 (GRCm39) T470S probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mroh9 A T 1: 162,854,071 (GRCm39) H776Q probably damaging Het
Myh7 T C 14: 55,228,661 (GRCm39) probably benign Het
Myh7b A G 2: 155,462,031 (GRCm39) N309S possibly damaging Het
Myo5b A T 18: 74,767,630 (GRCm39) T313S probably benign Het
Myo5b G A 18: 74,713,615 (GRCm39) probably benign Het
Nrxn3 T A 12: 89,478,698 (GRCm39) Y557* probably null Het
Or2aj4 T C 16: 19,385,463 (GRCm39) T57A possibly damaging Het
Or52k2 A G 7: 102,253,946 (GRCm39) I128M probably damaging Het
Or8g53 T A 9: 39,683,458 (GRCm39) T213S probably benign Het
Pcdh15 A G 10: 74,152,843 (GRCm39) I383V probably damaging Het
Pdzrn3 C A 6: 101,128,816 (GRCm39) D617Y probably damaging Het
Prodh2 A T 7: 30,212,258 (GRCm39) K408* probably null Het
Ptprs T C 17: 56,725,830 (GRCm39) I1052V probably damaging Het
Rpl14 T C 9: 120,401,193 (GRCm39) V12A probably damaging Het
Sf3a1 C T 11: 4,125,493 (GRCm39) R428C probably damaging Het
Sgsm2 G T 11: 74,741,962 (GRCm39) N1009K probably damaging Het
Slc28a2 A T 2: 122,284,980 (GRCm39) I323F probably damaging Het
Snx19 T A 9: 30,344,928 (GRCm39) F676I probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tg A C 15: 66,543,254 (GRCm39) D56A probably damaging Het
Tln1 G T 4: 43,545,694 (GRCm39) A928E probably damaging Het
Tmem94 T C 11: 115,683,247 (GRCm39) S677P possibly damaging Het
Ttc41 C A 10: 86,572,721 (GRCm39) H698N possibly damaging Het
Vcan T C 13: 89,851,394 (GRCm39) T1189A probably benign Het
Vmn1r215 G T 13: 23,260,088 (GRCm39) V43F probably damaging Het
Vmn2r28 A T 7: 5,487,015 (GRCm39) N549K probably damaging Het
Zfp598 T C 17: 24,898,566 (GRCm39) V455A probably benign Het
Other mutations in Npas4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Npas4 APN 19 5,037,355 (GRCm39) missense possibly damaging 0.93
IGL01865:Npas4 APN 19 5,035,819 (GRCm39) nonsense probably null
IGL02746:Npas4 APN 19 5,036,695 (GRCm39) missense probably damaging 0.99
IGL03340:Npas4 APN 19 5,035,094 (GRCm39) utr 3 prime probably benign
R0879:Npas4 UTSW 19 5,036,944 (GRCm39) missense probably benign
R0920:Npas4 UTSW 19 5,036,344 (GRCm39) nonsense probably null
R1751:Npas4 UTSW 19 5,038,211 (GRCm39) missense probably benign 0.05
R1767:Npas4 UTSW 19 5,038,211 (GRCm39) missense probably benign 0.05
R2066:Npas4 UTSW 19 5,037,442 (GRCm39) missense probably damaging 0.99
R2201:Npas4 UTSW 19 5,037,392 (GRCm39) missense probably benign 0.06
R3973:Npas4 UTSW 19 5,036,579 (GRCm39) missense probably benign
R4117:Npas4 UTSW 19 5,037,391 (GRCm39) missense probably damaging 0.99
R4846:Npas4 UTSW 19 5,036,805 (GRCm39) missense probably benign 0.34
R5007:Npas4 UTSW 19 5,039,684 (GRCm39) missense possibly damaging 0.61
R6155:Npas4 UTSW 19 5,036,898 (GRCm39) missense probably damaging 1.00
R6255:Npas4 UTSW 19 5,036,403 (GRCm39) missense probably damaging 1.00
R6488:Npas4 UTSW 19 5,036,011 (GRCm39) missense probably damaging 1.00
R8427:Npas4 UTSW 19 5,036,108 (GRCm39) missense probably benign
R8864:Npas4 UTSW 19 5,038,556 (GRCm39) missense probably damaging 1.00
R9449:Npas4 UTSW 19 5,038,492 (GRCm39) missense probably damaging 1.00
R9573:Npas4 UTSW 19 5,035,837 (GRCm39) missense probably benign 0.19
Z1177:Npas4 UTSW 19 5,036,270 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02