Mutagenetix > Incidental Mutation

Incidental Mutation 'R4846:Npas4'

372194

Institutional Source

Beutler Lab

Gene Symbol

Npas4

Ensembl Gene

ENSMUSG00000045903

Gene Name

neuronal PAS domain protein 4

Synonyms

Npas4, LE-PAS, Nxf

MMRRC Submission

042459-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.591) question?

Stock #

R4846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4984355-4989971 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4986777 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 453 (S453I)

Ref Sequence

ENSEMBL: ENSMUSP00000062992 (fasta)

Gene Model

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

AlphaFold

Q8BGD7

Predicted Effect

probably benign
Transcript: ENSMUST00000056129
AA Change: S453I

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000062992
Gene: ENSMUSG00000045903
AA Change: S453I

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

0.0710

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

100% (60/60)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,233 (GRCm38)	D591G	probably benign	Het
9930012K11Rik	T	A	14: 70,155,943 (GRCm38)	H299L	probably damaging	Het
Abcb4	C	T	5: 8,935,180 (GRCm38)	A687V	probably benign	Het
Adam20	A	G	8: 40,795,011 (GRCm38)	T53A	probably benign	Het
Afg1l	G	A	10: 42,454,494 (GRCm38)	T59I	probably benign	Het
AI837181	A	G	19: 5,426,301 (GRCm38)	Q164R	probably benign	Het
Anapc15	T	A	7: 101,897,767 (GRCm38)	I12N	probably benign	Het
Ankrd55	A	C	13: 112,363,454 (GRCm38)	E278D	probably benign	Het
Axin2	A	G	11: 108,942,299 (GRCm38)	T437A	probably benign	Het
BC051665	T	C	13: 60,784,081 (GRCm38)	D168G	probably damaging	Het
Btbd11	A	G	10: 85,629,266 (GRCm38)	T657A	probably damaging	Het
Cd200	C	T	16: 45,392,301 (GRCm38)	R261H	probably benign	Het
Clk1	G	A	1: 58,421,102 (GRCm38)	S123L	probably benign	Het
Csrnp2	A	T	15: 100,484,690 (GRCm38)	D156E	probably damaging	Het
Ctss	C	T	3: 95,545,384 (GRCm38)	Q159*	probably null	Het
Dip2a	A	G	10: 76,321,493 (GRCm38)	S93P	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038 (GRCm38)		probably null	Het
Dync1h1	C	A	12: 110,658,126 (GRCm38)	T3700N	probably damaging	Het
Ephb6	G	A	6: 41,616,809 (GRCm38)	R542Q	probably benign	Het
Fmo3	T	C	1: 162,954,311 (GRCm38)	D491G	possibly damaging	Het
Galnt14	A	T	17: 73,536,893 (GRCm38)	M140K	probably benign	Het
Ghsr	T	C	3: 27,371,837 (GRCm38)	V14A	probably benign	Het
Gm17546	C	A	15: 95,829,962 (GRCm38)		probably benign	Het
Gprc5c	G	T	11: 114,864,267 (GRCm38)	V257L	possibly damaging	Het
Hc	A	G	2: 35,019,670 (GRCm38)	V866A	probably benign	Het
Hoxb6	G	A	11: 96,299,522 (GRCm38)	G116R	probably damaging	Het
Hykk	A	G	9: 54,920,606 (GRCm38)	Y43C	probably damaging	Het
Jade2	T	C	11: 51,821,148 (GRCm38)	T495A	probably benign	Het
Kansl1	A	T	11: 104,342,972 (GRCm38)	V755E	possibly damaging	Het
Lrp2	T	A	2: 69,479,113 (GRCm38)	D2814V	probably damaging	Het
Mbd5	T	A	2: 49,256,997 (GRCm38)	N406K	probably damaging	Het
Met	A	T	6: 17,491,929 (GRCm38)	D230V	probably damaging	Het
Mrgprx2	A	T	7: 48,482,836 (GRCm38)	V78D	probably damaging	Het
Mrpl20	A	G	4: 155,808,536 (GRCm38)	T112A	possibly damaging	Het
Nek11	T	A	9: 105,163,163 (GRCm38)	E566D	probably damaging	Het
Nostrin	T	C	2: 69,175,579 (GRCm38)	S235P	probably damaging	Het
Pnkp	C	T	7: 44,862,403 (GRCm38)	S113L	probably damaging	Het
Psg18	A	T	7: 18,350,786 (GRCm38)	Y128*	probably null	Het
Ptges3l	A	T	11: 101,419,184 (GRCm38)		probably benign	Het
Pus1	T	C	5: 110,779,930 (GRCm38)		probably benign	Het
Raf1	T	A	6: 115,644,583 (GRCm38)	S12C	possibly damaging	Het
Rps6-ps2	T	G	8: 88,806,578 (GRCm38)		noncoding transcript	Het
Slc5a4b	A	G	10: 76,062,239 (GRCm38)	L547P	probably damaging	Het
Socs3	A	G	11: 117,967,828 (GRCm38)	S135P	probably benign	Het
St5	C	A	7: 109,556,836 (GRCm38)	E236*	probably null	Het
Stra6l	G	A	4: 45,873,682 (GRCm38)	V281M	possibly damaging	Het
Suco	G	A	1: 161,834,408 (GRCm38)	T818I	possibly damaging	Het
Syde1	A	T	10: 78,588,897 (GRCm38)	V367D	probably damaging	Het
Tet3	A	T	6: 83,376,883 (GRCm38)	L932*	probably null	Het
Trpm7	G	A	2: 126,813,185 (GRCm38)	L1278F	possibly damaging	Het
Vmn1r168	A	T	7: 23,541,065 (GRCm38)	T116S	probably damaging	Het
Wfdc6b	A	G	2: 164,617,294 (GRCm38)	Q92R	possibly damaging	Het

Other mutations in Npas4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01537:Npas4	APN	19	4,987,327 (GRCm38)	missense	possibly damaging	0.93
IGL01865:Npas4	APN	19	4,985,791 (GRCm38)	nonsense	probably null
IGL02746:Npas4	APN	19	4,986,667 (GRCm38)	missense	probably damaging	0.99
IGL03061:Npas4	APN	19	4,986,337 (GRCm38)	missense	probably damaging	1.00
IGL03340:Npas4	APN	19	4,985,066 (GRCm38)	utr 3 prime	probably benign
R0879:Npas4	UTSW	19	4,986,916 (GRCm38)	missense	probably benign
R0920:Npas4	UTSW	19	4,986,316 (GRCm38)	nonsense	probably null
R1751:Npas4	UTSW	19	4,988,183 (GRCm38)	missense	probably benign	0.05
R1767:Npas4	UTSW	19	4,988,183 (GRCm38)	missense	probably benign	0.05
R2066:Npas4	UTSW	19	4,987,414 (GRCm38)	missense	probably damaging	0.99
R2201:Npas4	UTSW	19	4,987,364 (GRCm38)	missense	probably benign	0.06
R3973:Npas4	UTSW	19	4,986,551 (GRCm38)	missense	probably benign
R4117:Npas4	UTSW	19	4,987,363 (GRCm38)	missense	probably damaging	0.99
R5007:Npas4	UTSW	19	4,989,656 (GRCm38)	missense	possibly damaging	0.61
R6155:Npas4	UTSW	19	4,986,870 (GRCm38)	missense	probably damaging	1.00
R6255:Npas4	UTSW	19	4,986,375 (GRCm38)	missense	probably damaging	1.00
R6488:Npas4	UTSW	19	4,985,983 (GRCm38)	missense	probably damaging	1.00
R8427:Npas4	UTSW	19	4,986,080 (GRCm38)	missense	probably benign
R8864:Npas4	UTSW	19	4,988,528 (GRCm38)	missense	probably damaging	1.00
R9449:Npas4	UTSW	19	4,988,464 (GRCm38)	missense	probably damaging	1.00
R9573:Npas4	UTSW	19	4,985,809 (GRCm38)	missense	probably benign	0.19
Z1177:Npas4	UTSW	19	4,986,242 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGAGCCTGGAATGCTGTG -3'
(R):5'- CTGGACTTCAGTTACCTGCC -3'

Sequencing Primer
(F):5'- AGGAGTCAGCTGCTCATGG -3'
(R):5'- CATTCCCTGCTAGGCCTGAG -3'

Posted On

2016-03-01