Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03061:Npas4'

409454

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?

Possibly essential (E-score: 0.682) question?

Stock #

IGL03061

Quality Score

Status

Chromosome

Chromosomal Location

4984355-4989971 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4986337 bp

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]

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

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	A	8: 46,508,337	N106K	probably damaging	Het
Ak8	T	C	2: 28,742,755		probably benign	Het
BC016579	C	T	16: 45,629,486	G190S	probably damaging	Het
C4bp	A	G	1: 130,636,717	V410A	probably damaging	Het
Cacna2d3	T	C	14: 29,058,431	T658A	probably damaging	Het
Cadps2	T	C	6: 23,287,660		probably null	Het
Car10	G	T	11: 93,490,525	V105F	probably damaging	Het
Car15	C	T	16: 17,835,385	C306Y	possibly damaging	Het
Casr	C	T	16: 36,495,888	A530T	probably benign	Het
Col5a3	A	G	9: 20,797,572		probably null	Het
Creld1	A	G	6: 113,488,097	E95G	probably damaging	Het
Dcstamp	T	A	15: 39,760,397	D366E	possibly damaging	Het
Dnah11	T	C	12: 117,903,121	Y4095C	probably damaging	Het
Eps8l2	A	G	7: 141,357,235		probably benign	Het
Gsn	T	C	2: 35,282,459		probably benign	Het
Ifi27	T	C	12: 103,435,544	V30A	possibly damaging	Het
Ifit1bl2	C	T	19: 34,619,724	R164Q	probably benign	Het
Impg2	T	C	16: 56,268,416	S1102P	probably damaging	Het
Kif24	G	T	4: 41,394,323	P984Q	possibly damaging	Het
Krtap29-1	T	A	11: 99,978,629	Q142L	possibly damaging	Het
Lpar6	C	T	14: 73,239,070	T157I	probably benign	Het
Lrrc32	A	T	7: 98,499,422	T470S	probably benign	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Mroh9	A	T	1: 163,026,502	H776Q	probably damaging	Het
Myh7	T	C	14: 54,991,204		probably benign	Het
Myh7b	A	G	2: 155,620,111	N309S	possibly damaging	Het
Myo5b	A	T	18: 74,634,559	T313S	probably benign	Het
Myo5b	G	A	18: 74,580,544		probably benign	Het
Nrxn3	T	A	12: 89,511,928	Y557*	probably null	Het
Olfr169	T	C	16: 19,566,713	T57A	possibly damaging	Het
Olfr552	A	G	7: 102,604,739	I128M	probably damaging	Het
Olfr968	T	A	9: 39,772,162	T213S	probably benign	Het
Pcdh15	A	G	10: 74,317,011	I383V	probably damaging	Het
Pdzrn3	C	A	6: 101,151,855	D617Y	probably damaging	Het
Prodh2	A	T	7: 30,512,833	K408*	probably null	Het
Ptprs	T	C	17: 56,418,830	I1052V	probably damaging	Het
Rpl14	T	C	9: 120,572,127	V12A	probably damaging	Het
Sf3a1	C	T	11: 4,175,493	R428C	probably damaging	Het
Sgsm2	G	T	11: 74,851,136	N1009K	probably damaging	Het
Slc28a2	A	T	2: 122,454,499	I323F	probably damaging	Het
Snx19	T	A	9: 30,433,632	F676I	probably damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tg	A	C	15: 66,671,405	D56A	probably damaging	Het
Tln1	G	T	4: 43,545,694	A928E	probably damaging	Het
Tmem94	T	C	11: 115,792,421	S677P	possibly damaging	Het
Ttc41	C	A	10: 86,736,857	H698N	possibly damaging	Het
Vcan	T	C	13: 89,703,275	T1189A	probably benign	Het
Vmn1r215	G	T	13: 23,075,918	V43F	probably damaging	Het
Vmn2r28	A	T	7: 5,484,016	N549K	probably damaging	Het
Zfp598	T	C	17: 24,679,592	V455A	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
IGL01865:Npas4	APN	19	4985791	nonsense	probably null
IGL02746:Npas4	APN	19	4986667	missense	probably damaging	0.99
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
R8427:Npas4	UTSW	19	4986080	missense	probably benign
R8864:Npas4	UTSW	19	4988528	missense	probably damaging	1.00
Z1177:Npas4	UTSW	19	4986242	missense	probably damaging	1.00

Posted On

2016-08-02