Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01865:Npas4'

178492

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Npas4

Ensembl Gene

ENSMUSG00000045903

Gene Name

neuronal PAS domain protein 4

Synonyms

Npas4, LE-PAS, Nxf

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.751) question?

Stock #

IGL01865

Quality Score

Status

Chromosome

Chromosomal Location

4984355-4989971 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 4985791 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 782 (Q782*)

Ref Sequence

ENSEMBL: ENSMUSP00000062992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056129]

Predicted Effect

probably null
Transcript: ENSMUST00000056129
AA Change: Q782*

SMART Domains

Protein: ENSMUSP00000062992
Gene: ENSMUSG00000045903
AA Change: Q782*

Domain	Start	End	E-Value	Type
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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	T	C	7: 128,236,935	H162R	probably damaging	Het
Adamts10	T	A	17: 33,553,166	M1096K	probably damaging	Het
Asap3	G	T	4: 136,236,404	C325F	probably damaging	Het
Atm	T	C	9: 53,461,002	E2160G	probably damaging	Het
Col4a1	G	A	8: 11,201,790		probably benign	Het
Ctdp1	C	T	18: 80,455,984	G248S	probably damaging	Het
Dcaf5	A	T	12: 80,339,314	D679E	probably benign	Het
Efcab2	C	A	1: 178,475,688	Y91*	probably null	Het
Eif3d	G	T	15: 77,967,346	T88K	probably benign	Het
Gapvd1	G	A	2: 34,695,503	A1049V	probably null	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10717	A	T	9: 3,026,287	Y195F	probably damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm18856	T	A	13: 13,964,923		probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm9991	A	G	1: 90,678,913		noncoding transcript	Het
Hapln1	T	C	13: 89,601,665	Y110H	probably damaging	Het
Htr1f	A	G	16: 64,925,919	Y337H	probably damaging	Het
Kirrel	T	A	3: 87,086,424	S509C	probably damaging	Het
Limch1	A	T	5: 66,974,580	R138*	probably null	Het
Lypla1	A	C	1: 4,837,036	I108L	probably damaging	Het
Mc3r	A	G	2: 172,249,055	N66D	probably damaging	Het
Melk	T	A	4: 44,344,988	C373S	probably benign	Het
Myocd	C	A	11: 65,200,897	S73I	probably benign	Het
Nell2	A	G	15: 95,385,081	V360A	possibly damaging	Het
Olfr1352	A	T	10: 78,984,678	D296V	possibly damaging	Het
Pdzd8	T	C	19: 59,299,645	K1108E	possibly damaging	Het
Per2	A	G	1: 91,421,517	I1044T	probably benign	Het
Pgm3	A	G	9: 86,555,318	F501S	possibly damaging	Het
Ppp1r3c	A	G	19: 36,734,178	V64A	probably benign	Het
Ptpn6	A	T	6: 124,732,465	I15N	probably damaging	Het
Pxk	T	C	14: 8,136,923	V148A	possibly damaging	Het
Rngtt	T	A	4: 33,325,157		probably benign	Het
Rtkn2	T	G	10: 68,035,875	S364R	probably benign	Het
Rtn1	A	C	12: 72,219,300	L167R	probably damaging	Het
Sp2	G	A	11: 96,961,042	T352I	probably damaging	Het
Tbc1d17	A	G	7: 44,842,689	M459T	possibly damaging	Het
Tbcd	T	A	11: 121,590,380	M694K	possibly damaging	Het
Tln2	G	A	9: 67,250,614	R1148*	probably null	Het
Trim27	T	C	13: 21,192,492	V294A	probably damaging	Het
Tspyl5	G	T	15: 33,687,712	A29E	unknown	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Vrk2	C	T	11: 26,535,560	V143I	possibly damaging	Het
Zfp952	G	A	17: 33,002,817	R52Q	probably benign	Het
Zfp979	A	T	4: 147,615,317	D55E	probably benign	Het

Other mutations in Npas4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01537:Npas4	APN	19	4987327	missense	possibly damaging	0.93
IGL02746:Npas4	APN	19	4986667	missense	probably damaging	0.99
IGL03061:Npas4	APN	19	4986337	missense	probably damaging	1.00
IGL03340:Npas4	APN	19	4985066	utr 3 prime	probably benign
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
Z1177:Npas4	UTSW	19	4986242	missense	probably damaging	1.00

Posted On

2014-05-07