Mutagenetix > Incidental Mutation

Incidental Mutation 'R1736:Npas1'

257025

Institutional Source

Beutler Lab

Gene Symbol

Npas1

Ensembl Gene

ENSMUSG00000001988

Gene Name

neuronal PAS domain protein 1

Synonyms

MOP5, bHLHe11

MMRRC Submission

039768-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.822) question?

Stock #

R1736 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

16189643-16210741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 16208541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 112 (A112D)

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: A112D

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000002053
Gene: ENSMUSG00000001988
AA Change: A112D

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

noncoding transcript
Transcript: ENSMUST00000083959

Predicted Effect

probably benign
Transcript: ENSMUST00000210748
AA Change: A112D

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211695

Meta Mutation Damage Score

0.2046

Coding Region Coverage

1x: 97.6%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

97% (57/59)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Adcy3	A	G	12: 4,250,998 (GRCm39)	N586D	possibly damaging	Het
Ak6	T	A	13: 100,791,689 (GRCm39)		probably null	Het
Ankrd66	T	C	17: 43,854,409 (GRCm39)	D41G	probably benign	Het
Atp8b2	G	A	3: 89,860,001 (GRCm39)	P339S	probably damaging	Het
Cacna1d	C	T	14: 29,811,820 (GRCm39)	V1297I	probably damaging	Het
Cbl	A	T	9: 44,064,192 (GRCm39)	D781E	possibly damaging	Het
Cep295	C	T	9: 15,252,179 (GRCm39)	E397K	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Clint1	A	G	11: 45,797,004 (GRCm39)		probably null	Het
Col6a3	A	G	1: 90,706,781 (GRCm39)	Y2111H	unknown	Het
Csnk1g1	A	G	9: 65,927,197 (GRCm39)		probably null	Het
Dse	A	T	10: 34,029,145 (GRCm39)	N648K	probably damaging	Het
Dsp	A	G	13: 38,376,966 (GRCm39)	K1584E	probably benign	Het
Ezh2	A	T	6: 47,553,594 (GRCm39)	M41K	probably damaging	Het
Fscn2	G	A	11: 120,258,852 (GRCm39)	G466S	probably damaging	Het
Garin5b	A	G	7: 4,761,153 (GRCm39)	S520P	probably damaging	Het
Gm15217	A	G	14: 46,620,663 (GRCm39)		probably benign	Het
Gm9696	T	C	3: 59,879,696 (GRCm39)		noncoding transcript	Het
Gosr2	G	A	11: 103,570,076 (GRCm39)	Q162*	probably null	Het
Hectd4	T	A	5: 121,487,593 (GRCm39)	H3529Q	possibly damaging	Het
Klf7	C	A	1: 64,118,372 (GRCm39)	R75L	possibly damaging	Het
Kmt2c	A	T	5: 25,495,525 (GRCm39)	I4074K	probably damaging	Het
Ly6g2	G	A	15: 75,089,569 (GRCm39)	G26R	probably damaging	Het
Map3k11	A	G	19: 5,747,429 (GRCm39)	D555G	probably benign	Het
Mindy2	A	G	9: 70,538,312 (GRCm39)	I341T	probably damaging	Het
Mrnip	G	A	11: 50,067,718 (GRCm39)		probably null	Het
Muc5b	G	A	7: 141,412,844 (GRCm39)	C1930Y	unknown	Het
Nfatc3	T	G	8: 106,805,482 (GRCm39)	I109S	probably damaging	Het
Npffr2	T	A	5: 89,715,925 (GRCm39)	I84N	probably damaging	Het
Nxph4	T	A	10: 127,362,465 (GRCm39)	H142L	probably damaging	Het
Otud4	T	A	8: 80,378,294 (GRCm39)		probably benign	Het
Per3	A	G	4: 151,093,705 (GRCm39)		probably null	Het
Pigr	G	A	1: 130,769,540 (GRCm39)	R117Q	possibly damaging	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prex2	T	A	1: 11,160,108 (GRCm39)		probably benign	Het
Sall4	G	A	2: 168,594,555 (GRCm39)	P420L	probably benign	Het
Sap30bp	A	G	11: 115,855,046 (GRCm39)	K252R	probably damaging	Het
Sec63	T	A	10: 42,703,914 (GRCm39)	Y692*	probably null	Het
Sema3e	C	T	5: 14,260,390 (GRCm39)	T181M	probably damaging	Het
Sf3b3	T	C	8: 111,540,464 (GRCm39)	I986V	probably benign	Het
Shisa4	A	T	1: 135,299,700 (GRCm39)	Y194*	probably null	Het
Slc17a6	G	A	7: 51,311,333 (GRCm39)		probably benign	Het
Smg1	T	G	7: 117,765,190 (GRCm39)		probably null	Het
Smim7	C	T	8: 73,324,849 (GRCm39)	G9R	probably damaging	Het
Spata31d1d	C	T	13: 59,874,311 (GRCm39)	G1075R	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Stag3	T	C	5: 138,302,771 (GRCm39)		probably benign	Het
Tbce	A	G	13: 14,184,227 (GRCm39)	I217T	possibly damaging	Het
Tpk1	G	A	6: 43,588,284 (GRCm39)	P27S	probably benign	Het
Tsc22d1	A	G	14: 76,655,797 (GRCm39)	I2V	probably benign	Het
Tulp4	T	G	17: 6,283,490 (GRCm39)	V1173G	possibly damaging	Het
Uchl1	T	C	5: 66,834,417 (GRCm39)		probably null	Het
Ugt2b38	T	A	5: 87,571,492 (GRCm39)	Q180L	probably benign	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
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
R5937:Npas1	UTSW	7	16,197,187 (GRCm39)	missense	probably benign	0.15
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'- TCCCCTTGAGACCAGTAAGGAAACC -3'
(R):5'- TCCCACTTCCTAAAGTGCTGGGAC -3'

Sequencing Primer
(F):5'- CACCAAAGGTCTGGTGGACTC -3'
(R):5'- GTTTCCAGGACTCTTACTGACAC -3'

Posted On

2015-01-09