Mutagenetix > Incidental Mutation

Incidental Mutation 'R4385:Npas1'

326165

Institutional Source

Beutler Lab

Gene Symbol

Npas1

Ensembl Gene

ENSMUSG00000001988

Gene Name

neuronal PAS domain protein 1

Synonyms

MOP5, bHLHe11

MMRRC Submission

041124-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.818) question?

Stock #

R4385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16189643-16210741 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 16193110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002053] [ENSMUST00000002053] [ENSMUST00000019302] [ENSMUST00000209536] [ENSMUST00000210748] [ENSMUST00000210748]

AlphaFold

P97459

Predicted Effect

probably null
Transcript: ENSMUST00000002053

SMART Domains

Protein: ENSMUSP00000002053
Gene: ENSMUSG00000001988

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 null
Transcript: ENSMUST00000002053

SMART Domains

Protein: ENSMUSP00000002053
Gene: ENSMUSG00000001988

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: ENSMUST00000019302

SMART Domains

Protein: ENSMUSP00000019302
Gene: ENSMUSG00000019158

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
transmembrane domain	99	121	N/A	INTRINSIC
transmembrane domain	131	153	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209536

Predicted Effect

probably null
Transcript: ENSMUST00000210748

Predicted Effect

probably null
Transcript: ENSMUST00000210748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211103

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	T	11: 94,259,065 (GRCm39)	I426N	probably damaging	Het
Abcc6	C	T	7: 45,644,752 (GRCm39)	V808I	possibly damaging	Het
Adam23	T	C	1: 63,605,787 (GRCm39)	Y624H	probably damaging	Het
Apbb1	A	G	7: 105,216,483 (GRCm39)	S140P	probably benign	Het
Arhgef10	T	A	8: 14,980,157 (GRCm39)	C132*	probably null	Het
Boc	A	T	16: 44,311,545 (GRCm39)	L726H	probably damaging	Het
Calr3	T	A	8: 73,182,008 (GRCm39)	D120V	probably damaging	Het
Cdc27	T	C	11: 104,425,640 (GRCm39)	R59G	probably benign	Het
Cfap43	T	C	19: 47,785,568 (GRCm39)	R441G	probably benign	Het
Chsy3	A	G	18: 59,309,424 (GRCm39)	I226V	probably benign	Het
Chsy3	A	T	18: 59,312,546 (GRCm39)	T340S	possibly damaging	Het
Cnot10	T	A	9: 114,460,949 (GRCm39)	K74*	probably null	Het
Col5a1	A	C	2: 27,914,791 (GRCm39)	M136L	probably damaging	Het
Coro2a	A	T	4: 46,541,961 (GRCm39)	I387N	possibly damaging	Het
Csnk1g1	T	C	9: 65,927,190 (GRCm39)	V119A	probably damaging	Het
Cyfip2	C	T	11: 46,133,230 (GRCm39)	M823I	probably benign	Het
Dcbld2	A	G	16: 58,283,429 (GRCm39)	K555E	probably damaging	Het
Dpep3	A	G	8: 106,704,818 (GRCm39)	M164T	probably damaging	Het
Flg	C	A	3: 93,200,316 (GRCm39)		probably benign	Het
Hecw1	C	T	13: 14,490,749 (GRCm39)	D748N	probably damaging	Het
Ift172	T	C	5: 31,444,311 (GRCm39)	D37G	probably damaging	Het
Iglc1	A	T	16: 18,880,508 (GRCm39)	C104*	probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klk1	A	T	7: 43,877,993 (GRCm39)	D83V	probably benign	Het
Klk1b9	T	C	7: 43,443,699 (GRCm39)	V71A	probably benign	Het
Loxhd1	A	G	18: 77,460,607 (GRCm39)	K806R	probably damaging	Het
Metap1	T	C	3: 138,180,824 (GRCm39)	E119G	possibly damaging	Het
Nbea	T	C	3: 55,908,059 (GRCm39)	H1351R	possibly damaging	Het
Nim1k	T	C	13: 120,174,162 (GRCm39)	D244G	probably damaging	Het
Pcdh15	A	G	10: 74,386,322 (GRCm39)	D1136G	probably damaging	Het
Pde6b	A	G	5: 108,575,508 (GRCm39)	I657V	probably benign	Het
Pi4ka	A	G	16: 17,204,129 (GRCm39)	V55A	probably benign	Het
Plxnb2	T	C	15: 89,044,826 (GRCm39)	N1173S	probably damaging	Het
Pramel23	C	T	4: 143,424,584 (GRCm39)		probably null	Het
Ptpn13	T	C	5: 103,681,273 (GRCm39)		probably null	Het
Ptprb	A	G	10: 116,182,772 (GRCm39)	S1483G	probably benign	Het
Rbm48	G	A	5: 3,640,300 (GRCm39)	P360S	probably damaging	Het
Rbp3	G	C	14: 33,677,253 (GRCm39)	E400D	probably benign	Het
Resf1	T	C	6: 149,227,706 (GRCm39)	S251P	possibly damaging	Het
Rfpl4	A	G	7: 5,113,669 (GRCm39)	S165P	possibly damaging	Het
Scn9a	A	T	2: 66,314,900 (GRCm39)	L1595Q	probably damaging	Het
Scp2	A	T	4: 107,928,547 (GRCm39)	V381D	probably damaging	Het
Sec24c	G	A	14: 20,740,841 (GRCm39)	V620M	probably damaging	Het
Slc30a9	T	C	5: 67,473,110 (GRCm39)	Y65H	probably damaging	Het
Sorcs1	A	G	19: 50,178,599 (GRCm39)	I841T	probably benign	Het
Sp140l1	C	T	1: 85,087,057 (GRCm39)		probably null	Het
Spag7	C	T	11: 70,560,029 (GRCm39)	A27T	probably damaging	Het
St6galnac6	A	G	2: 32,505,036 (GRCm39)	I181V	possibly damaging	Het
Tm9sf3	T	C	19: 41,236,372 (GRCm39)	M130V	probably damaging	Het
Ugt3a1	C	T	15: 9,306,565 (GRCm39)	S238F	probably benign	Het
Usp9y	G	A	Y: 1,304,756 (GRCm39)	L2363F	probably damaging	Het
Vmn1r34	T	A	6: 66,614,123 (GRCm39)	H205L	probably damaging	Het
Vps50	C	A	6: 3,516,694 (GRCm39)	Q59K	probably benign	Het
Zeb2	T	A	2: 44,913,074 (GRCm39)	D39V	probably damaging	Het
Zfp146	G	A	7: 29,861,847 (GRCm39)	T65I	probably benign	Het
Zfp36	T	C	7: 28,077,116 (GRCm39)	D264G	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
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
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'- ACACCTGGCTTTTCTTTATGAGG -3'
(R):5'- AGTATCCACAAGTTCCATACTGG -3'

Sequencing Primer
(F):5'- AAGTCCTTAAGCTTTCCTGGCAAG -3'
(R):5'- GGAAAATGTCTGTACTCACTGCTGTC -3'

Posted On

2015-07-06