Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03340:Npas4'

417209

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: 0.636) question?

Stock #

IGL03340

Quality Score

Status

Chromosome

Chromosomal Location

5034383-5040344 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to T at 5035094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000062992 (fasta)

Gene Model

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

AlphaFold

Q8BGD7

Predicted Effect

probably benign
Transcript: ENSMUST00000056129

SMART Domains

Protein: ENSMUSP00000062992
Gene: ENSMUSG00000045903

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	G	12: 55,126,786 (GRCm39)	L26P	probably benign	Het
Aff1	A	T	5: 103,931,670 (GRCm39)	H104L	possibly damaging	Het
Apon	T	C	10: 128,090,847 (GRCm39)	I175T	probably benign	Het
C2cd6	A	C	1: 59,115,830 (GRCm39)	F168V	probably benign	Het
Cgn	C	T	3: 94,685,405 (GRCm39)		probably benign	Het
Cramp1	G	A	17: 25,192,516 (GRCm39)	P956L	probably damaging	Het
Cyp2e1	G	A	7: 140,344,767 (GRCm39)	V78M	probably damaging	Het
Cyp4b1	G	A	4: 115,499,076 (GRCm39)	P97S	probably damaging	Het
Fads2	G	T	19: 10,069,136 (GRCm39)	P96Q	possibly damaging	Het
Fcer2a	T	C	8: 3,738,310 (GRCm39)	D120G	possibly damaging	Het
Fhip1b	A	G	7: 105,038,517 (GRCm39)	S241P	probably damaging	Het
Gm21972	G	T	1: 86,061,450 (GRCm39)	A887S	probably damaging	Het
Grk6	A	G	13: 55,601,003 (GRCm39)	D295G	probably damaging	Het
Herc2	T	A	7: 55,740,668 (GRCm39)	V270D	possibly damaging	Het
Kcnk2	T	A	1: 189,027,878 (GRCm39)	I126F	possibly damaging	Het
Kifap3	T	G	1: 163,656,718 (GRCm39)	V346G	possibly damaging	Het
Kpna1	T	A	16: 35,820,616 (GRCm39)	N20K	probably damaging	Het
Krt33b	A	G	11: 99,916,298 (GRCm39)		probably benign	Het
Krtap9-5	T	C	11: 99,839,427 (GRCm39)	C43R	possibly damaging	Het
Lars1	G	A	18: 42,361,715 (GRCm39)		probably benign	Het
Lifr	T	C	15: 7,207,417 (GRCm39)	W540R	probably benign	Het
Lrp1b	A	G	2: 41,358,981 (GRCm39)	S631P	probably damaging	Het
Mbd1	G	T	18: 74,407,553 (GRCm39)	R111L	probably benign	Het
Meltf	C	T	16: 31,711,602 (GRCm39)	T576M	probably damaging	Het
Mmp20	G	A	9: 7,643,995 (GRCm39)	G228S	probably damaging	Het
Mob4	A	G	1: 55,175,867 (GRCm39)	D37G	possibly damaging	Het
Msr1	T	C	8: 40,073,048 (GRCm39)	K234E	possibly damaging	Het
Myof	A	G	19: 37,899,607 (GRCm39)	V1764A	probably damaging	Het
Naaladl1	A	G	19: 6,156,229 (GRCm39)	Y105C	possibly damaging	Het
Nisch	A	G	14: 30,895,101 (GRCm39)	V1065A	probably damaging	Het
Or4c124	T	C	2: 89,156,039 (GRCm39)	T162A	possibly damaging	Het
Pdss2	A	G	10: 43,269,997 (GRCm39)	D280G	probably benign	Het
Plk3	A	G	4: 116,990,125 (GRCm39)	I182T	probably damaging	Het
Ppm1k	A	G	6: 57,487,711 (GRCm39)	W371R	probably damaging	Het
Samm50	T	C	15: 84,082,864 (GRCm39)		probably null	Het
Scaper	G	T	9: 55,510,116 (GRCm39)	T640K	possibly damaging	Het
Sun3	A	C	11: 8,973,285 (GRCm39)		probably benign	Het
Svep1	T	A	4: 58,111,451 (GRCm39)	K1056M	possibly damaging	Het
Tgs1	C	A	4: 3,604,813 (GRCm39)	P745Q	probably benign	Het
Tomm20l	A	T	12: 71,164,388 (GRCm39)		probably benign	Het
Usp38	A	C	8: 81,738,905 (GRCm39)	L237V	probably damaging	Het
Vmn1r210	T	C	13: 23,011,644 (GRCm39)	Y214C	probably benign	Het
Zan	G	A	5: 137,426,136 (GRCm39)	P2547S	unknown	Het

Other mutations in Npas4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03061:Npas4	APN	19	5,036,365 (GRCm39)	missense	probably damaging	1.00
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