Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01376:Npas3'

78733

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Npas3

Ensembl Gene

ENSMUSG00000021010

Gene Name

neuronal PAS domain protein 3

Synonyms

4930423H22Rik, bHLHe12

Accession Numbers

Essential gene?

Probably essential (E-score: 0.928) question?

Stock #

IGL01376

Quality Score

Status

Chromosome

Chromosomal Location

53248677-54072175 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54044586 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 308 (T308S)

Ref Sequence

ENSEMBL: ENSMUSP00000098975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101432] [ENSMUST00000223057] [ENSMUST00000223358]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000101432
AA Change: T308S

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000098975
Gene: ENSMUSG00000021010
AA Change: T308S

Domain	Start	End	E-Value	Type
HLH	64	119	1.34e-6	SMART
PAS	154	220	8.69e-11	SMART
low complexity region	234	256	N/A	INTRINSIC
PAS	326	392	7.4e-5	SMART
PAC	398	441	2.46e-1	SMART
low complexity region	461	477	N/A	INTRINSIC
low complexity region	524	544	N/A	INTRINSIC
low complexity region	598	627	N/A	INTRINSIC
low complexity region	696	709	N/A	INTRINSIC
low complexity region	739	754	N/A	INTRINSIC
low complexity region	759	773	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223057
AA Change: T290S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000223358
AA Change: T280S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the basic helix-loop-helix and PAS domain-containing family of transcription factors. The encoded protein is localized to the nucleus and may regulate genes involved in neurogenesis. Chromosomal abnormalities that affect the coding potential of this gene are associated with schizophrenia and mental retardation. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for some knock-out alleles exhibit abnormal behavior and nervous system morphology. Mice homozygous for another knock-out allele exhibit defective lung branching morphogenesis and die shortly after birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	G	1: 37,628,344	L207P	probably damaging	Het
4930568D16Rik	A	T	2: 35,355,628	I61K	probably benign	Het
Acot12	A	G	13: 91,784,671	Y521C	probably damaging	Het
Anxa7	T	C	14: 20,460,456	N313D	probably benign	Het
Cdk14	T	C	5: 5,010,839	I327M	probably damaging	Het
Clca3b	T	C	3: 144,826,051	N664S	possibly damaging	Het
Cpb1	A	C	3: 20,270,324	L62R	probably benign	Het
Eef2	G	A	10: 81,178,049		probably benign	Het
Enox1	T	C	14: 77,251,843		probably benign	Het
Esco1	A	T	18: 10,594,892	C131*	probably null	Het
Etv1	A	T	12: 38,857,040	D347V	probably damaging	Het
Fat1	A	G	8: 45,026,841	I2975V	probably benign	Het
Ghsr	A	G	3: 27,371,828	E11G	probably benign	Het
Gins4	T	C	8: 23,227,327	D166G	probably benign	Het
Iglv2	G	T	16: 19,260,565	H62N	possibly damaging	Het
Irf2bp1	T	C	7: 19,006,027	S531P	possibly damaging	Het
Lrig3	T	A	10: 125,994,466	F144L	probably benign	Het
Magi1	C	T	6: 94,283,093	R77Q	possibly damaging	Het
Mlkl	A	G	8: 111,319,747	L298P	probably damaging	Het
Ndc1	T	C	4: 107,375,197	L193P	probably damaging	Het
Nt5dc3	A	T	10: 86,834,164	Q541L	probably benign	Het
Olfr1084	A	C	2: 86,639,609	V33G	probably benign	Het
Olfr1115	T	C	2: 87,252,873	V312A	possibly damaging	Het
Parp10	G	T	15: 76,241,677	T437K	probably benign	Het
Phf3	A	G	1: 30,830,485	V494A	possibly damaging	Het
Prpf8	C	A	11: 75,494,295	A794D	possibly damaging	Het
Sars2	T	A	7: 28,749,883	Y307N	probably damaging	Het
Serping1	A	T	2: 84,770,185	V271E	probably damaging	Het
Sgpl1	G	A	10: 61,114,070	P117S	probably damaging	Het
Slc38a1	A	C	15: 96,585,556	L297R	probably damaging	Het
Strbp	A	G	2: 37,645,651	M15T	probably damaging	Het
Tdp2	A	G	13: 24,836,949		probably null	Het
Tex10	T	C	4: 48,456,740	Y657C	possibly damaging	Het
Xrcc4	A	T	13: 90,062,050	S92T	probably benign	Het

Other mutations in Npas3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01021:Npas3	APN	12	54003560	missense	probably damaging	1.00
IGL01330:Npas3	APN	12	54048819	missense	probably damaging	1.00
IGL01634:Npas3	APN	12	53947163	missense	probably damaging	1.00
IGL02456:Npas3	APN	12	54048767	missense	probably damaging	0.99
IGL02663:Npas3	APN	12	54068908	missense	probably damaging	1.00
IGL02731:Npas3	APN	12	54067795	missense	probably benign	0.01
IGL02955:Npas3	APN	12	53501265	missense	probably damaging	0.96
IGL03001:Npas3	APN	12	53501192	missense	probably damaging	1.00
IGL03047:Npas3	APN	12	53831687	splice site	probably benign
ANU05:Npas3	UTSW	12	54068074	missense	possibly damaging	0.49
IGL02837:Npas3	UTSW	12	53947197	missense	possibly damaging	0.79
R0042:Npas3	UTSW	12	54048841	missense	probably damaging	1.00
R0042:Npas3	UTSW	12	54048841	missense	probably damaging	1.00
R0396:Npas3	UTSW	12	53831745	missense	probably damaging	1.00
R1687:Npas3	UTSW	12	54048875	splice site	probably null
R1863:Npas3	UTSW	12	54068826	missense	probably damaging	1.00
R2004:Npas3	UTSW	12	54067897	missense	possibly damaging	0.63
R2047:Npas3	UTSW	12	54068829	missense	probably damaging	0.99
R2049:Npas3	UTSW	12	54062088	missense	probably damaging	1.00
R2278:Npas3	UTSW	12	53640502	missense	possibly damaging	0.92
R2323:Npas3	UTSW	12	54068346	missense	probably damaging	1.00
R2871:Npas3	UTSW	12	54068013	nonsense	probably null
R2871:Npas3	UTSW	12	54068013	nonsense	probably null
R3116:Npas3	UTSW	12	54067725	splice site	probably null
R3431:Npas3	UTSW	12	54069049	missense	probably damaging	0.99
R3731:Npas3	UTSW	12	53354392	missense	probably benign	0.11
R3767:Npas3	UTSW	12	54069074	makesense	probably null
R4332:Npas3	UTSW	12	54062069	missense	probably damaging	0.99
R4593:Npas3	UTSW	12	54068497	missense	probably benign	0.08
R4601:Npas3	UTSW	12	54044578	missense	probably damaging	0.99
R4654:Npas3	UTSW	12	54062132	critical splice donor site	probably null
R4946:Npas3	UTSW	12	54065835	missense	probably damaging	1.00
R5140:Npas3	UTSW	12	53501114	nonsense	probably null
R5302:Npas3	UTSW	12	54068836	missense	probably damaging	1.00
R5524:Npas3	UTSW	12	54068938	missense	possibly damaging	0.64
R5735:Npas3	UTSW	12	54003479	missense	probably benign	0.00
R6252:Npas3	UTSW	12	54068890	missense	probably damaging	1.00
R6438:Npas3	UTSW	12	54068698	missense	probably damaging	0.99
R6987:Npas3	UTSW	12	54068253	missense	possibly damaging	0.94
R6994:Npas3	UTSW	12	54068793	missense	probably damaging	0.96
R7304:Npas3	UTSW	12	54069041	missense	probably damaging	1.00
R7684:Npas3	UTSW	12	54068826	missense	probably damaging	1.00
R7724:Npas3	UTSW	12	54068341	missense	possibly damaging	0.90
R7739:Npas3	UTSW	12	54068718	missense	probably damaging	1.00
R7826:Npas3	UTSW	12	53831756	missense	possibly damaging	0.92
R8017:Npas3	UTSW	12	54044679	missense	probably damaging	1.00
R8019:Npas3	UTSW	12	54044679	missense	probably damaging	1.00
R8034:Npas3	UTSW	12	53640529	missense	probably damaging	1.00
R8422:Npas3	UTSW	12	54068509	missense	probably benign
R9172:Npas3	UTSW	12	54065870	missense	probably benign	0.08
R9207:Npas3	UTSW	12	54068035	missense	possibly damaging	0.87
R9774:Npas3	UTSW	12	53947325	missense	probably damaging	1.00
X0003:Npas3	UTSW	12	54044728	splice site	probably null
X0064:Npas3	UTSW	12	53354384	missense	probably damaging	0.96
Z1176:Npas3	UTSW	12	53501180	missense	probably damaging	0.99
Z1177:Npas3	UTSW	12	53947206	missense	probably damaging	1.00

Posted On

2013-11-05