Mutagenetix > Incidental Mutation

Incidental Mutation 'R5937:Npas1'

462322

Institutional Source

Beutler Lab

Gene Symbol

Npas1

Ensembl Gene

ENSMUSG00000001988

Gene Name

neuronal PAS domain protein 1

Synonyms

MOP5, bHLHe11

MMRRC Submission

043242-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.822) question?

Stock #

R5937 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16189643-16210741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16197187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 226 (D226V)

Ref Sequence

ENSEMBL: ENSMUSP00000147412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002053] [ENSMUST00000210748]

AlphaFold

P97459

Predicted Effect

probably benign
Transcript: ENSMUST00000002053
AA Change: D226V

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000002053
Gene: ENSMUSG00000001988
AA Change: D226V

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
HLH	51	106	1.44e-6	SMART
low complexity region	109	128	N/A	INTRINSIC
PAS	137	203	1.09e-11	SMART
low complexity region	212	223	N/A	INTRINSIC
low complexity region	275	288	N/A	INTRINSIC
PAS	294	360	5.32e-6	SMART
PAC	366	409	5.64e0	SMART
low complexity region	428	443	N/A	INTRINSIC
low complexity region	478	489	N/A	INTRINSIC
low complexity region	574	587	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000210748
AA Change: D226V

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211103

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. Studies of a related mouse gene suggest that it functions in neurons. The exact function of this gene is unclear, but it may play protective or modulatory roles during late embryogenesis and postnatal development. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,791,495 (GRCm39)	W314R	probably benign	Het
Adgrv1	A	T	13: 81,255,194 (GRCm39)	V6143E	probably damaging	Het
Agap3	C	T	5: 24,682,815 (GRCm39)	T261I	probably damaging	Het
Ano6	T	C	15: 95,811,838 (GRCm39)	I241T	probably damaging	Het
Arhgef28	T	C	13: 98,076,051 (GRCm39)	T1328A	probably benign	Het
Capn10	C	T	1: 92,867,105 (GRCm39)	R112W	probably damaging	Het
Car5a	A	T	8: 122,666,560 (GRCm39)	W46R	probably damaging	Het
Cntn6	C	A	6: 104,810,064 (GRCm39)	T582K	possibly damaging	Het
Ctsh	T	C	9: 89,943,509 (GRCm39)	V60A	probably benign	Het
Ctsll3	A	G	13: 60,947,410 (GRCm39)	F259L	probably damaging	Het
Dennd2b	A	T	7: 109,156,478 (GRCm39)	C91S	possibly damaging	Het
Fam228a	T	C	12: 4,787,725 (GRCm39)	E16G	probably damaging	Het
G3bp2	A	G	5: 92,203,256 (GRCm39)	I388T	probably damaging	Het
Galnt5	A	T	2: 57,928,949 (GRCm39)	K926N	probably benign	Het
Gm10097	G	A	10: 5,019,485 (GRCm39)		probably benign	Het
Gm9978	T	A	10: 78,322,675 (GRCm39)		noncoding transcript	Het
Gria1	A	G	11: 57,080,559 (GRCm39)	T112A	probably benign	Het
Hnrnpk	A	C	13: 58,543,016 (GRCm39)	V134G	probably damaging	Het
Insr	A	G	8: 3,224,808 (GRCm39)	V220A	probably benign	Het
Lhx4	A	G	1: 155,586,023 (GRCm39)	I96T	probably damaging	Het
Lrp1	T	C	10: 127,419,745 (GRCm39)	T955A	possibly damaging	Het
Lrtm1	T	C	14: 28,743,787 (GRCm39)	V85A	possibly damaging	Het
Man2a2	T	C	7: 80,013,251 (GRCm39)	Y514C	probably damaging	Het
Nrcam	G	A	12: 44,619,074 (GRCm39)	V858I	probably benign	Het
Or14c40	G	T	7: 86,313,684 (GRCm39)	L271F	probably benign	Het
Or5b108	T	A	19: 13,168,675 (GRCm39)	S215T	probably damaging	Het
Pde6b	G	T	5: 108,572,193 (GRCm39)	A478S	probably benign	Het
Pex1	T	A	5: 3,674,487 (GRCm39)	N789K	possibly damaging	Het
Plekha6	A	G	1: 133,187,839 (GRCm39)	D120G	possibly damaging	Het
Pomgnt1	A	G	4: 116,011,110 (GRCm39)	T220A	probably benign	Het
Sdr39u1	A	T	14: 56,135,364 (GRCm39)	I193K	probably damaging	Het
Sec61a2	C	A	2: 5,891,368 (GRCm39)	M54I	probably benign	Het
Sema5a	A	G	15: 32,574,987 (GRCm39)	Y365C	probably damaging	Het
Sra1	C	T	18: 36,804,652 (GRCm39)		probably null	Het
Taf5	C	T	19: 47,070,334 (GRCm39)	S640L	probably damaging	Het
Tas2r140	T	A	6: 133,032,236 (GRCm39)	H174L	probably benign	Het
Tmem63a	T	A	1: 180,788,716 (GRCm39)	V351D	probably damaging	Het
Ttll7	C	T	3: 146,649,847 (GRCm39)	Q626*	probably null	Het
Ubn2	T	A	6: 38,440,917 (GRCm39)	V263E	possibly damaging	Het
Vmn2r106	C	T	17: 20,505,667 (GRCm39)	W9*	probably null	Het
Xrcc3	C	G	12: 111,774,406 (GRCm39)	C141S	probably null	Het
Zfp516	T	A	18: 82,974,958 (GRCm39)	D385E	probably damaging	Het

Other mutations in Npas1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Npas1	APN	7	16,197,247 (GRCm39)	missense	probably benign	0.05
IGL01627:Npas1	APN	7	16,199,111 (GRCm39)	missense	probably damaging	1.00
IGL02812:Npas1	APN	7	16,190,041 (GRCm39)	missense	probably damaging	1.00
IGL03141:Npas1	APN	7	16,199,063 (GRCm39)	missense	probably damaging	1.00
D4043:Npas1	UTSW	7	16,197,169 (GRCm39)	splice site	probably null
H8786:Npas1	UTSW	7	16,195,275 (GRCm39)	missense	possibly damaging	0.51
R0218:Npas1	UTSW	7	16,195,818 (GRCm39)	missense	probably benign	0.39
R1736:Npas1	UTSW	7	16,208,541 (GRCm39)	missense	probably benign	0.24
R1795:Npas1	UTSW	7	16,208,725 (GRCm39)	missense	probably damaging	1.00
R2093:Npas1	UTSW	7	16,193,202 (GRCm39)	missense	probably benign
R2570:Npas1	UTSW	7	16,208,628 (GRCm39)	missense	probably damaging	1.00
R4057:Npas1	UTSW	7	16,208,712 (GRCm39)	missense	probably damaging	1.00
R4385:Npas1	UTSW	7	16,193,110 (GRCm39)	critical splice donor site	probably null
R6456:Npas1	UTSW	7	16,195,851 (GRCm39)	missense	probably benign	0.44
R7195:Npas1	UTSW	7	16,208,733 (GRCm39)	missense	probably damaging	1.00
R7544:Npas1	UTSW	7	16,194,899 (GRCm39)	splice site	probably null
R8221:Npas1	UTSW	7	16,189,890 (GRCm39)	missense	probably damaging	1.00
R8393:Npas1	UTSW	7	16,195,266 (GRCm39)	missense	probably damaging	1.00
R9158:Npas1	UTSW	7	16,195,333 (GRCm39)	missense	possibly damaging	0.53
R9382:Npas1	UTSW	7	16,190,231 (GRCm39)	critical splice acceptor site	probably null
R9653:Npas1	UTSW	7	16,190,146 (GRCm39)	missense	probably benign	0.00
Z1177:Npas1	UTSW	7	16,196,178 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACCCTAGTGCCTTAAGTTGG -3'
(R):5'- AGTGCACTTGAAGGTTGGGC -3'

Sequencing Primer
(F):5'- CCTTAAGTTGGCTTGACTCATTG -3'
(R):5'- TCAGCTTTGGCGCTCACG -3'

Posted On

2017-02-28