Mutagenetix > Incidental Mutation

Incidental Mutation 'R9573:Npas4'

722151

Institutional Source

Beutler Lab

Gene Symbol

Npas4

Ensembl Gene

ENSMUSG00000045903

Gene Name

neuronal PAS domain protein 4

Synonyms

Nxf, LE-PAS, Npas4

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.627) question?

Stock #

R9573 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5034383-5040344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5035837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 776 (F776L)

Ref Sequence

ENSEMBL: ENSMUSP00000062992 (fasta)

Gene Model

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

AlphaFold

Q8BGD7

Predicted Effect

probably benign
Transcript: ENSMUST00000056129
AA Change: F776L

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000062992
Gene: ENSMUSG00000045903
AA Change: F776L

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	A	17: 14,050,229 (GRCm39)	V472E	probably damaging	Het
Ak3	T	C	19: 29,003,667 (GRCm39)	I170V	probably benign	Het
Ank3	T	A	10: 69,791,977 (GRCm39)	L1058*	probably null	Het
Ankrd60	A	G	2: 173,410,791 (GRCm39)	V243A	possibly damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arid3c	T	G	4: 41,726,003 (GRCm39)	E200A	probably benign	Het
Astn2	T	G	4: 65,566,591 (GRCm39)	I856L	probably benign	Het
Bcs1l	C	A	1: 74,629,492 (GRCm39)	R177S	probably damaging	Het
Bin2	A	T	15: 100,560,433 (GRCm39)	F43I	probably damaging	Het
Braf	A	G	6: 39,600,544 (GRCm39)	L691P	probably damaging	Het
Bud23	C	T	5: 135,082,274 (GRCm39)	V266I	possibly damaging	Het
Casp12	A	T	9: 5,354,629 (GRCm39)	I333L	probably benign	Het
Cavin2	T	A	1: 51,328,795 (GRCm39)	I84N	probably damaging	Het
Ccdc168	A	C	1: 44,095,307 (GRCm39)	Y1930*	probably null	Het
Ccdc196	A	T	12: 78,244,098 (GRCm39)	N17I		Het
Cep170b	T	A	12: 112,691,154 (GRCm39)	F24I	probably damaging	Het
Chd9	A	G	8: 91,704,302 (GRCm39)	Y719C	unknown	Het
Commd7	A	G	2: 153,463,981 (GRCm39)	M137T	probably damaging	Het
Dmbt1	G	A	7: 130,657,910 (GRCm39)		probably null	Het
Dnah12	A	C	14: 26,414,619 (GRCm39)	T7P	probably benign	Het
Elapor1	A	T	3: 108,373,094 (GRCm39)	I548N	probably damaging	Het
Endod1	A	T	9: 14,292,247 (GRCm39)	L7Q	probably damaging	Het
Galnt14	C	T	17: 73,802,662 (GRCm39)	V477M	probably damaging	Het
Glis2	C	T	16: 4,429,505 (GRCm39)	R211C	probably damaging	Het
Gm4744	A	T	6: 40,925,497 (GRCm39)	V122D		Het
Gm4952	G	A	19: 12,604,090 (GRCm39)	M167I	probably benign	Het
Hyal4	T	C	6: 24,756,508 (GRCm39)	V242A	possibly damaging	Het
Ift122	T	G	6: 115,857,646 (GRCm39)	S131A	probably benign	Het
Il4ra	T	A	7: 125,169,158 (GRCm39)	S137T	possibly damaging	Het
Lcor	T	A	19: 41,573,471 (GRCm39)	L742Q	probably damaging	Het
Lpin2	A	G	17: 71,538,185 (GRCm39)	K315R	probably benign	Het
Map3k6	T	C	4: 132,979,774 (GRCm39)	Y1258H	probably damaging	Het
Mapk9	A	T	11: 49,769,239 (GRCm39)	K290N	probably damaging	Het
Mfhas1	C	T	8: 36,143,903 (GRCm39)	H1045Y	possibly damaging	Het
Ndufaf7	C	A	17: 79,246,036 (GRCm39)	Q90K	probably damaging	Het
Nlrc3	A	T	16: 3,771,841 (GRCm39)	V157E	probably benign	Het
Nuggc	A	C	14: 65,848,603 (GRCm39)	D184A	probably benign	Het
Ogdhl	A	G	14: 32,066,678 (GRCm39)	E795G	probably damaging	Het
Or5a1	A	G	19: 12,097,509 (GRCm39)	I189T	probably damaging	Het
Or9a2	T	G	6: 41,748,940 (GRCm39)	I98L	probably benign	Het
Pcbp1	A	T	6: 86,502,677 (GRCm39)	M74K	possibly damaging	Het
Plk4	A	G	3: 40,763,257 (GRCm39)	D476G	probably benign	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Rab44	A	T	17: 29,364,277 (GRCm39)	Y617F	unknown	Het
Rabepk	T	C	2: 34,675,627 (GRCm39)	R168G	probably benign	Het
Rbmyf9	T	A	Y: 3,775,370 (GRCm39)	M40K	possibly damaging	Het
Rif1	T	G	2: 52,000,466 (GRCm39)	S1307A	probably benign	Het
Ror2	C	T	13: 53,265,467 (GRCm39)	V542I	probably benign	Het
Rtp1	A	G	16: 23,250,159 (GRCm39)	I175V	possibly damaging	Het
Slc11a2	T	A	15: 100,304,225 (GRCm39)	I158F	probably damaging	Het
Slc24a3	T	G	2: 145,455,548 (GRCm39)	M479R	probably damaging	Het
Slc4a9	T	C	18: 36,668,589 (GRCm39)	F723S	probably damaging	Het
Syne2	C	A	12: 75,927,134 (GRCm39)	N93K	probably damaging	Het
Sytl2	A	G	7: 90,057,599 (GRCm39)	Q846R	probably damaging	Het
Tas2r116	A	C	6: 132,833,140 (GRCm39)	H247P	probably benign	Het
Tcstv3	T	C	13: 120,779,130 (GRCm39)	S10P	probably damaging	Het
Tgm7	T	C	2: 120,934,606 (GRCm39)	N124S	probably benign	Het
Tmem219	A	T	7: 126,490,933 (GRCm39)	Y175N	probably damaging	Het
Tnfrsf18	G	A	4: 156,112,484 (GRCm39)	G114S	possibly damaging	Het
Trim38	G	A	13: 23,966,688 (GRCm39)	C45Y	probably benign	Het
Tshz1	T	C	18: 84,032,404 (GRCm39)	E668G	probably benign	Het
Ubr4	T	A	4: 139,148,450 (GRCm39)	M382K		Het
Vps39	T	C	2: 120,155,179 (GRCm39)	E549G	possibly damaging	Het
Wdr35	G	A	12: 9,078,014 (GRCm39)	G1135D	probably benign	Het
Zbtb46	A	G	2: 181,053,548 (GRCm39)	L388P	probably benign	Het
Zdhhc25	T	A	15: 88,485,307 (GRCm39)	M214K	probably damaging	Het
Zfp735	G	A	11: 73,602,936 (GRCm39)	E627K	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
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
Z1177:Npas4	UTSW	19	5,036,270 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCTACTCATCTTTCACACAAAG -3'
(R):5'- TCTACTCCAGACCCCAATGG -3'

Sequencing Primer
(F):5'- ACTCATCTTTCACACAAAGCTTTG -3'
(R):5'- CCAATGGGGAATGGGGTTC -3'

Posted On

2022-08-09