Mutagenetix > Incidental Mutation

Incidental Mutation 'R1767:Npas4'

194526

Institutional Source

Beutler Lab

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 #

R1767 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5034383-5040344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5038211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 199 (P199L)

Ref Sequence

ENSEMBL: ENSMUSP00000062992 (fasta)

Gene Model

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

AlphaFold

Q8BGD7

Predicted Effect

probably benign
Transcript: ENSMUST00000056129
AA Change: P199L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000062992
Gene: ENSMUSG00000045903
AA Change: P199L

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

0.0611

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110065P20Rik	T	C	4: 124,743,754 (GRCm39)	N128S	possibly damaging	Het
Adam26b	T	A	8: 43,972,948 (GRCm39)	I685F	probably benign	Het
Adgrf5	A	T	17: 43,761,455 (GRCm39)	Y1050F	possibly damaging	Het
Alcam	A	T	16: 52,091,077 (GRCm39)	N480K	probably damaging	Het
Alk	T	A	17: 72,207,693 (GRCm39)	H1014L	possibly damaging	Het
Arhgef2	A	G	3: 88,551,260 (GRCm39)	Q778R	probably damaging	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Ascc3	T	A	10: 50,594,472 (GRCm39)	I1189N	probably damaging	Het
AU040320	G	A	4: 126,734,517 (GRCm39)	G713D	probably damaging	Het
Bmpr1a	A	G	14: 34,169,727 (GRCm39)		probably null	Het
Bpifa6	A	G	2: 153,829,147 (GRCm39)	T225A	possibly damaging	Het
Cacna1g	T	C	11: 94,350,628 (GRCm39)	S406G	probably benign	Het
Ccdc198	G	A	14: 49,473,341 (GRCm39)	T128I	probably benign	Het
Ccdc40	T	A	11: 119,121,522 (GRCm39)		probably null	Het
Cckbr	A	T	7: 105,083,758 (GRCm39)	I229F	possibly damaging	Het
Cers3	A	G	7: 66,433,151 (GRCm39)	K156R	probably damaging	Het
Chd1	T	A	17: 15,990,565 (GRCm39)	W1706R	probably damaging	Het
Col11a2	T	A	17: 34,282,869 (GRCm39)		probably benign	Het
Coq10b	A	G	1: 55,100,513 (GRCm39)	R66G	probably damaging	Het
Cpn2	A	T	16: 30,078,485 (GRCm39)	Y405*	probably null	Het
Dis3	A	T	14: 99,321,578 (GRCm39)	Y590N	probably damaging	Het
Dpy19l1	T	C	9: 24,373,880 (GRCm39)	H270R	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Ephx1	C	T	1: 180,822,242 (GRCm39)	G101S	probably damaging	Het
Flg	A	T	3: 93,187,220 (GRCm39)	Y224F	possibly damaging	Het
Focad	G	T	4: 88,275,705 (GRCm39)	V1105L	unknown	Het
Fzd1	A	G	5: 4,806,812 (GRCm39)	Y257H	probably benign	Het
Gm11116	T	C	5: 88,259,311 (GRCm39)		probably benign	Het
Gm11938	G	A	11: 99,494,071 (GRCm39)	S8F	unknown	Het
Grin3a	A	T	4: 49,844,423 (GRCm39)	V220E	probably damaging	Het
Gstt2	T	C	10: 75,670,098 (GRCm39)	D8G	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hook3	A	G	8: 26,561,084 (GRCm39)		probably null	Het
Itpr2	T	C	6: 146,251,566 (GRCm39)	D993G	possibly damaging	Het
Jhy	T	C	9: 40,872,444 (GRCm39)	R22G	probably benign	Het
Krt13	A	C	11: 100,011,926 (GRCm39)	H132Q	possibly damaging	Het
Krtap27-1	G	A	16: 88,468,199 (GRCm39)	S115L	probably damaging	Het
L1td1	T	C	4: 98,625,686 (GRCm39)	V627A	probably benign	Het
Lrrn4cl	A	G	19: 8,829,135 (GRCm39)	T38A	probably benign	Het
Ly96	A	G	1: 16,776,399 (GRCm39)	T112A	probably benign	Het
Meltf	G	T	16: 31,702,747 (GRCm39)	C158F	probably damaging	Het
Mycbp2	A	T	14: 103,485,841 (GRCm39)	H1040Q	probably damaging	Het
Or12j3	T	C	7: 139,953,389 (GRCm39)	I45V	possibly damaging	Het
Or52r1	T	A	7: 102,536,833 (GRCm39)	I176F	probably damaging	Het
Or8k3b	A	G	2: 86,520,728 (GRCm39)	M197T	probably benign	Het
Pcdh10	A	T	3: 45,338,612 (GRCm39)	H923L	probably damaging	Het
Pias3	T	C	3: 96,608,719 (GRCm39)	S228P	probably damaging	Het
Pign	A	G	1: 105,580,917 (GRCm39)	V154A	probably benign	Het
Plod3	T	A	5: 137,019,030 (GRCm39)	V305E	possibly damaging	Het
Prkra	G	T	2: 76,477,584 (GRCm39)	H40Q	possibly damaging	Het
Prss22	T	A	17: 24,215,331 (GRCm39)	E148D	probably benign	Het
Psg17	A	G	7: 18,550,727 (GRCm39)	V376A	possibly damaging	Het
Retnlg	A	T	16: 48,693,991 (GRCm39)	D49V	possibly damaging	Het
Rnf26rt	A	T	6: 76,474,588 (GRCm39)	N9K	unknown	Het
Rtp1	A	G	16: 23,250,124 (GRCm39)	E163G	probably damaging	Het
Slc6a20a	T	A	9: 123,466,165 (GRCm39)	I522F	probably damaging	Het
Slco5a1	T	C	1: 13,059,839 (GRCm39)	D294G	probably damaging	Het
Slco6d1	A	G	1: 98,418,274 (GRCm39)	T487A	possibly damaging	Het
Smarcc2	A	T	10: 128,304,951 (GRCm39)	D262V	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Ssbp3	G	T	4: 106,904,612 (GRCm39)	D336Y	probably damaging	Het
Sun2	A	G	15: 79,609,758 (GRCm39)	S694P	probably benign	Het
Tdp1	G	A	12: 99,857,602 (GRCm39)		probably null	Het
Tfap2a	A	T	13: 40,878,613 (GRCm39)	I204N	probably damaging	Het
Tfip11	T	A	5: 112,482,298 (GRCm39)	W519R	probably damaging	Het
Tie1	T	C	4: 118,333,373 (GRCm39)	E831G	possibly damaging	Het
Tjp1	A	G	7: 64,962,301 (GRCm39)		probably null	Het
Tln2	C	T	9: 67,193,796 (GRCm39)	A1773T	probably benign	Het
Tmem39b	A	C	4: 129,586,976 (GRCm39)	I78M	possibly damaging	Het
Trank1	T	C	9: 111,220,547 (GRCm39)	V2428A	probably benign	Het
Trim35	A	G	14: 66,541,617 (GRCm39)	E247G	probably damaging	Het
Tsc22d1	T	C	14: 76,655,542 (GRCm39)	S674P	probably damaging	Het
Tsn	A	T	1: 118,228,618 (GRCm39)	D201E	probably damaging	Het
Usp42	A	T	5: 143,700,621 (GRCm39)	V1134E	possibly damaging	Het
Uvrag	A	G	7: 98,748,601 (GRCm39)	I117T	probably damaging	Het
Vmn1r192	A	G	13: 22,371,441 (GRCm39)	S260P	probably benign	Het
Vmn2r110	C	T	17: 20,800,840 (GRCm39)	A531T	possibly damaging	Het
Wdsub1	A	T	2: 59,689,058 (GRCm39)	I388N	probably damaging	Het
Wnt10b	A	T	15: 98,670,556 (GRCm39)	L228Q	probably damaging	Het
Zbtb34	A	C	2: 33,301,348 (GRCm39)	S398A	possibly 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
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
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'- CGCTCAAAGCCCAGGTAGATTAGG -3'
(R):5'- TTGTCGATTCAACACCTCCAAGTCC -3'

Sequencing Primer
(F):5'- TGCCCTGAATCTAAGATCACG -3'
(R):5'- ACCTCCAAGTCCCTCCG -3'

Posted On

2014-05-23