Mutagenetix > Incidental Mutation

Incidental Mutation 'R2201:Npas4'

238690

Institutional Source

Beutler Lab

Gene Symbol

Npas4

Ensembl Gene

ENSMUSG00000045903

Gene Name

neuronal PAS domain protein 4

Synonyms

Npas4, LE-PAS, Nxf

MMRRC Submission

040203-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.591) question?

Stock #

R2201 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4984355-4989971 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4987364 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 301 (Y301N)

Ref Sequence

ENSEMBL: ENSMUSP00000062992 (fasta)

Gene Model

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

AlphaFold

Q8BGD7

Predicted Effect

probably benign
Transcript: ENSMUST00000056129
AA Change: Y301N

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000062992
Gene: ENSMUSG00000045903
AA Change: Y301N

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

0.1602

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (59/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	T	A	7: 29,536,525 (GRCm38)		noncoding transcript	Het
A2ml1	A	T	6: 128,547,305 (GRCm38)	N1121K	probably null	Het
Actr10	A	G	12: 70,960,021 (GRCm38)	N351D	probably damaging	Het
Adcy7	G	A	8: 88,317,978 (GRCm38)	A500T	probably damaging	Het
Ankrd35	T	C	3: 96,679,248 (GRCm38)	I80T	possibly damaging	Het
Arap2	G	A	5: 62,706,685 (GRCm38)	T532I	probably damaging	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,545,769 (GRCm38)		probably null	Het
C77080	A	G	4: 129,222,639 (GRCm38)	V732A	probably benign	Het
Cc2d2a	T	C	5: 43,684,033 (GRCm38)		probably benign	Het
Cep85l	A	T	10: 53,348,731 (GRCm38)	M254K	probably benign	Het
Clic4	A	G	4: 135,223,539 (GRCm38)	S114P	probably damaging	Het
Ctsj	T	C	13: 61,002,549 (GRCm38)	Y213C	probably damaging	Het
Ddx28	A	G	8: 106,010,574 (GRCm38)	V284A	probably damaging	Het
Dnase2b	T	A	3: 146,584,688 (GRCm38)	D176V	probably damaging	Het
Dsg2	T	A	18: 20,596,054 (GRCm38)	N663K	probably damaging	Het
Dst	T	A	1: 34,195,921 (GRCm38)	S3694T	possibly damaging	Het
Emilin1	T	C	5: 30,915,692 (GRCm38)	S158P	probably benign	Het
Eng	T	C	2: 32,673,740 (GRCm38)		probably benign	Het
Fam160a2	T	C	7: 105,388,191 (GRCm38)	N395S	probably damaging	Het
Fam189a1	T	A	7: 64,759,393 (GRCm38)	M418L	probably benign	Het
Fdxr	C	A	11: 115,270,382 (GRCm38)	V223L	probably benign	Het
Frem2	T	A	3: 53,516,573 (GRCm38)	M3148L	probably benign	Het
Hip1	A	T	5: 135,431,730 (GRCm38)	D114E	probably benign	Het
Itga9	T	C	9: 118,877,115 (GRCm38)		probably benign	Het
Kcnt2	T	A	1: 140,509,441 (GRCm38)	N487K	probably damaging	Het
Krt6a	A	G	15: 101,693,171 (GRCm38)	F172L	probably benign	Het
Megf8	C	T	7: 25,340,745 (GRCm38)	R1034W	probably damaging	Het
Muc6	C	T	7: 141,649,810 (GRCm38)	D451N	probably damaging	Het
Myo5a	A	G	9: 75,217,943 (GRCm38)	T1838A	possibly damaging	Het
N4bp2l2	A	T	5: 150,661,608 (GRCm38)	D302E	probably damaging	Het
Nbeal2	T	A	9: 110,630,250 (GRCm38)	I1930F	probably benign	Het
Nt5m	A	G	11: 59,875,915 (GRCm38)	K211E	probably benign	Het
Pfn4	A	G	12: 4,774,382 (GRCm38)		probably null	Het
Pfpl	A	C	19: 12,430,479 (GRCm38)	D698A	probably benign	Het
Pias1	G	T	9: 62,951,855 (GRCm38)	H124N	possibly damaging	Het
Pja2	A	T	17: 64,311,167 (GRCm38)		probably benign	Het
Polr3e	T	C	7: 120,932,242 (GRCm38)	Y185H	probably benign	Het
Pomc	T	C	12: 3,960,275 (GRCm38)	L172S	probably benign	Het
Rapgef4	A	G	2: 72,045,189 (GRCm38)	T129A	probably damaging	Het
Reep1	T	C	6: 71,773,294 (GRCm38)	S97P	probably damaging	Het
Rttn	T	A	18: 89,010,943 (GRCm38)	I595N	possibly damaging	Het
Sap30	T	C	8: 57,485,472 (GRCm38)		probably null	Het
Slc1a7	T	C	4: 107,993,006 (GRCm38)	Y105H	probably damaging	Het
Slc5a5	C	T	8: 70,892,458 (GRCm38)	M68I	probably damaging	Het
Stab2	T	A	10: 86,940,639 (GRCm38)	Y791F	probably benign	Het
Tdrd1	C	A	19: 56,858,661 (GRCm38)	S911R	probably benign	Het
Tdrd1	C	A	19: 56,858,662 (GRCm38)	H912N	probably benign	Het
Tgm7	A	T	2: 121,098,581 (GRCm38)	F278Y	probably damaging	Het
Tln2	T	C	9: 67,375,757 (GRCm38)	T310A	probably damaging	Het
Tmem256	T	C	11: 69,839,445 (GRCm38)	I93T	probably benign	Het
Trpm2	G	A	10: 77,920,471 (GRCm38)	Q1172*	probably null	Het
Ttll8	A	G	15: 88,933,953 (GRCm38)	V173A	possibly damaging	Het
Ubr5	T	C	15: 38,002,299 (GRCm38)	S1497G	possibly damaging	Het
Ubr7	G	A	12: 102,761,505 (GRCm38)		probably null	Het
Vmn1r37	T	A	6: 66,731,894 (GRCm38)	M1K	probably null	Het
Vmn2r14	A	G	5: 109,218,832 (GRCm38)		probably null	Het
Vmn2r72	T	C	7: 85,738,236 (GRCm38)	I707V	probably benign	Het
Vps8	A	G	16: 21,576,757 (GRCm38)	R1266G	probably damaging	Het
Zfhx4	A	G	3: 5,242,289 (GRCm38)	N192D	probably damaging	Het
Zfp638	G	C	6: 83,929,518 (GRCm38)	D222H	probably damaging	Het
Zscan29	A	C	2: 121,169,402 (GRCm38)	V106G	probably 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
R3973:Npas4	UTSW	19	4,986,551 (GRCm38)	missense	probably benign
R4117:Npas4	UTSW	19	4,987,363 (GRCm38)	missense	probably damaging	0.99
R4846:Npas4	UTSW	19	4,986,777 (GRCm38)	missense	probably benign	0.34
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'- TTCAGAGTTTAGCTGCTGGC -3'
(R):5'- GGCTCCCTCAATTCAGTGTAG -3'

Sequencing Primer
(F):5'- AGGCTTCCGTGTCACTGGAAAG -3'
(R):5'- CTCCCTCAATTCAGTGTAGAGGTAAG -3'

Posted On

2014-10-02