Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01537:Npas4'

89989

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 #

IGL01537

Quality Score

Status

Chromosome

Chromosomal Location

5034383-5040344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5037355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 313 (N313S)

Ref Sequence

ENSEMBL: ENSMUSP00000062992 (fasta)

Gene Model

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

AlphaFold

Q8BGD7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056129
AA Change: N313S

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000062992
Gene: ENSMUSG00000045903
AA Change: N313S

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
Atxn1l	T	C	8: 110,459,312 (GRCm39)	R317G	probably benign	Het
B130006D01Rik	T	A	11: 95,616,992 (GRCm39)		probably benign	Het
Brinp2	T	C	1: 158,074,379 (GRCm39)	T581A	probably damaging	Het
Cacna1b	A	T	2: 24,548,540 (GRCm39)	I1179N	probably damaging	Het
Cacnb3	A	G	15: 98,541,301 (GRCm39)	D434G	probably damaging	Het
Cdh19	T	C	1: 110,847,341 (GRCm39)	T423A	possibly damaging	Het
Chkb	C	T	15: 89,311,986 (GRCm39)		probably benign	Het
Cit	T	C	5: 116,071,913 (GRCm39)	Y623H	probably benign	Het
Clstn3	G	A	6: 124,408,559 (GRCm39)	R918C	possibly damaging	Het
Dnah2	T	A	11: 69,406,906 (GRCm39)	M200L	probably benign	Het
Dnah9	T	A	11: 65,838,506 (GRCm39)	H3097L	probably benign	Het
Dst	T	A	1: 34,314,401 (GRCm39)	L4217H	probably damaging	Het
Fam107b	T	A	2: 3,779,565 (GRCm39)	L80Q	probably damaging	Het
Fgfr1	T	A	8: 26,045,595 (GRCm39)	C55S	probably damaging	Het
Igkv4-71	C	A	6: 69,220,264 (GRCm39)	G78*	probably null	Het
Igsf10	A	G	3: 59,237,452 (GRCm39)	S910P	probably benign	Het
Ikzf3	T	C	11: 98,407,718 (GRCm39)	D41G	probably damaging	Het
Larp1	T	A	11: 57,933,648 (GRCm39)	I358N	possibly damaging	Het
Marchf5	C	T	19: 37,188,067 (GRCm39)		probably benign	Het
Mpdz	T	C	4: 81,287,895 (GRCm39)	T455A	probably damaging	Het
Myo1b	A	G	1: 51,815,510 (GRCm39)	V612A	possibly damaging	Het
Nipbl	T	C	15: 8,380,023 (GRCm39)	D923G	probably benign	Het
Nlrp4b	T	C	7: 10,448,918 (GRCm39)	F7L	probably damaging	Het
Nynrin	T	A	14: 56,109,502 (GRCm39)	N1536K	possibly damaging	Het
Or10d5	T	A	9: 39,861,921 (GRCm39)	T49S	probably benign	Het
Or13a22	A	G	7: 140,072,751 (GRCm39)	N67D	probably damaging	Het
Or4c107	T	C	2: 88,788,885 (GRCm39)	V25A	probably benign	Het
Pclo	T	C	5: 14,589,647 (GRCm39)	V649A	unknown	Het
Pom121	A	G	5: 135,421,389 (GRCm39)		probably benign	Het
Ptcd2	A	T	13: 99,466,521 (GRCm39)	I224N	possibly damaging	Het
Rsrp1	C	T	4: 134,651,290 (GRCm39)	P18L	unknown	Het
Sash1	A	T	10: 8,605,422 (GRCm39)	N989K	probably damaging	Het
Scn2a	T	A	2: 65,546,219 (GRCm39)	H927Q	probably benign	Het
Selenoi	G	T	5: 30,461,222 (GRCm39)	V128F	probably damaging	Het
Slc25a42	T	C	8: 70,642,092 (GRCm39)	I117V	probably benign	Het
Spata1	A	G	3: 146,195,558 (GRCm39)		probably benign	Het
Sptlc3	A	T	2: 139,431,615 (GRCm39)	Y379F	possibly damaging	Het
Tent4a	A	T	13: 69,648,678 (GRCm39)	S693T	probably benign	Het
Tinag	C	T	9: 76,952,885 (GRCm39)	R33K	probably benign	Het
Trappc8	T	C	18: 20,968,061 (GRCm39)	D1092G	probably benign	Het
Xntrpc	A	G	7: 101,722,401 (GRCm39)	E22G	probably damaging	Het
Zbtb7b	A	G	3: 89,287,278 (GRCm39)	M397T	possibly damaging	Het
Zgpat	A	G	2: 181,020,682 (GRCm39)	D285G	probably benign	Het

Other mutations in Npas4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-12-03