Mutagenetix > Incidental Mutation

Incidental Mutation 'R0879:Npas4'

81948

Institutional Source

Beutler Lab

Gene Symbol

Npas4

Ensembl Gene

ENSMUSG00000045903

Gene Name

neuronal PAS domain protein 4

Synonyms

Nxf, LE-PAS, Npas4

MMRRC Submission

039046-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.636) question?

Stock #

R0879 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5034383-5040344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5036944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 407 (R407G)

Ref Sequence

ENSEMBL: ENSMUSP00000062992 (fasta)

Gene Model

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

AlphaFold

Q8BGD7

Predicted Effect

probably benign
Transcript: ENSMUST00000056129
AA Change: R407G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062992
Gene: ENSMUSG00000045903
AA Change: R407G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.9%
20x: 96.3%

Validation Efficiency

100% (41/41)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	A	9: 63,524,892 (GRCm39)		probably benign	Het
Adm	A	G	7: 110,227,559 (GRCm39)	D25G	possibly damaging	Het
Adprs	C	T	4: 126,210,410 (GRCm39)	V357I	probably benign	Het
Akap6	G	T	12: 52,927,582 (GRCm39)	R164L	probably damaging	Het
Baz2a	A	G	10: 127,957,173 (GRCm39)	N972S	probably damaging	Het
Brd2	A	T	17: 34,332,420 (GRCm39)	V232D	probably benign	Het
C6	A	G	15: 4,792,818 (GRCm39)		probably benign	Het
Ceacam5	A	C	7: 17,491,627 (GRCm39)	I666L	probably benign	Het
Col7a1	T	C	9: 108,805,159 (GRCm39)		probably benign	Het
Dnah17	C	T	11: 117,947,661 (GRCm39)		probably benign	Het
Dnah7a	A	T	1: 53,467,019 (GRCm39)	V3615E	possibly damaging	Het
Eml6	A	G	11: 29,800,816 (GRCm39)		probably null	Het
Enpp2	T	C	15: 54,741,326 (GRCm39)	E324G	probably damaging	Het
Fgd4	A	G	16: 16,295,313 (GRCm39)	V222A	probably damaging	Het
Gm4076	A	G	13: 85,275,326 (GRCm39)		noncoding transcript	Het
Gm4775	T	C	14: 106,338,227 (GRCm39)		noncoding transcript	Het
Igsf9b	T	C	9: 27,245,038 (GRCm39)	S1002P	probably damaging	Het
Jag1	A	G	2: 136,942,001 (GRCm39)	S244P	possibly damaging	Het
Klhl41	A	T	2: 69,513,827 (GRCm39)		probably benign	Het
Ltbr	A	G	6: 125,290,338 (GRCm39)		probably benign	Het
Megf8	A	G	7: 25,037,896 (GRCm39)	E804G	possibly damaging	Het
Mybpc1	G	A	10: 88,407,378 (GRCm39)		probably benign	Het
Oxnad1	T	A	14: 31,821,553 (GRCm39)	Y213N	probably damaging	Het
Pde6d	A	G	1: 86,473,523 (GRCm39)	F91S	probably benign	Het
Pelp1	A	G	11: 70,286,123 (GRCm39)		probably benign	Het
Plscr2	T	C	9: 92,169,846 (GRCm39)	Y99H	probably damaging	Het
Rft1	T	C	14: 30,404,705 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,860,588 (GRCm39)	Y30C	probably benign	Het
Selenbp2	A	G	3: 94,606,863 (GRCm39)	T108A	possibly damaging	Het
Stk32b	A	G	5: 37,616,940 (GRCm39)		probably benign	Het
Stra6	T	C	9: 58,042,487 (GRCm39)		probably null	Het
Usp17le	A	T	7: 104,418,854 (GRCm39)	L96Q	probably damaging	Het
Usp17le	G	T	7: 104,418,855 (GRCm39)	L96M	possibly damaging	Het
Vmn1r76	A	T	7: 11,664,662 (GRCm39)	I184N	probably benign	Het
Vmn2r102	T	C	17: 19,914,454 (GRCm39)	V673A	probably damaging	Het
Wdr17	T	G	8: 55,114,516 (GRCm39)	I667L	probably benign	Het
Zfp292	T	C	4: 34,811,218 (GRCm39)	T609A	probably benign	Het
Zfp821	T	C	8: 110,448,474 (GRCm39)	I135T	possibly damaging	Het
Zfp865	A	G	7: 5,034,342 (GRCm39)	T776A	probably benign	Het
Zp2	G	T	7: 119,734,757 (GRCm39)	P477Q	probably damaging	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
IGL03340:Npas4	APN	19	5,035,094 (GRCm39)	utr 3 prime	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

Predicted Primers

PCR Primer
(F):5'- AGAGGTGCATGGAGTCAACTGGTC -3'
(R):5'- TCCGCCAGCAGCTAAACTCTGAAG -3'

Sequencing Primer
(F):5'- GAGTCAACTGGTCTTCAAAGC -3'
(R):5'- GACACCCAGGCAGCCTATG -3'

Posted On

2013-11-08