Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01325:Npas1'

74239

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Npas1

Ensembl Gene

ENSMUSG00000001988

Gene Name

neuronal PAS domain protein 1

Synonyms

MOP5, bHLHe11

Accession Numbers

Essential gene?

Probably essential (E-score: 0.822) question?

Stock #

IGL01325

Quality Score

Status

Chromosome

Chromosomal Location

16189643-16210741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 16197247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 206 (G206D)

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: G206D

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000002053
Gene: ENSMUSG00000001988
AA Change: G206D

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: G206D

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211103

Coding Region Coverage

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 61,001,347 (GRCm39)	T127A	probably damaging	Het
Acrv1	T	A	9: 36,609,810 (GRCm39)	M227K	probably benign	Het
Adam22	T	C	5: 8,177,333 (GRCm39)	N592S	probably benign	Het
Adamts15	T	A	9: 30,832,984 (GRCm39)	I184F	possibly damaging	Het
Adcy1	T	C	11: 7,014,102 (GRCm39)	V168A	possibly damaging	Het
Arl6ip5	T	C	6: 97,209,501 (GRCm39)	F179L	probably benign	Het
Asxl2	G	T	12: 3,477,172 (GRCm39)	R6L	probably damaging	Het
Btaf1	T	A	19: 36,982,049 (GRCm39)		probably benign	Het
Ccdc136	T	C	6: 29,412,949 (GRCm39)	F445L	probably benign	Het
Cpne3	T	C	4: 19,535,229 (GRCm39)	S268G	probably benign	Het
Crtc3	C	T	7: 80,327,116 (GRCm39)	R70Q	probably damaging	Het
Fam169a	C	A	13: 97,259,207 (GRCm39)	A421E	probably benign	Het
Fhod1	A	T	8: 106,058,281 (GRCm39)	M825K	probably benign	Het
Gjb2	T	C	14: 57,337,678 (GRCm39)	T177A	probably benign	Het
Gm6576	A	G	15: 27,025,970 (GRCm39)		noncoding transcript	Het
Herpud2	A	G	9: 25,025,207 (GRCm39)	V175A	probably benign	Het
Hmgxb3	T	C	18: 61,267,078 (GRCm39)	D1052G	probably damaging	Het
Itpr1	T	A	6: 108,358,169 (GRCm39)	F578L	probably benign	Het
Kdm7a	T	G	6: 39,135,243 (GRCm39)		probably benign	Het
Krt76	A	T	15: 101,793,323 (GRCm39)	S572T	unknown	Het
Lrrcc1	T	C	3: 14,601,601 (GRCm39)		probably null	Het
Marchf9	A	C	10: 126,893,459 (GRCm39)	V183G	probably damaging	Het
Mrtfb	T	C	16: 13,219,088 (GRCm39)	V578A	probably damaging	Het
Ndufaf6	A	T	4: 11,070,251 (GRCm39)	D123E	probably benign	Het
Nhlh2	T	G	3: 101,920,342 (GRCm39)	Y125D	probably damaging	Het
Nol4l	A	G	2: 153,278,271 (GRCm39)		probably benign	Het
Or52h9	T	C	7: 104,202,896 (GRCm39)	F257L	probably damaging	Het
Or5ak24	C	A	2: 85,260,639 (GRCm39)	C178F	possibly damaging	Het
Pcdhb4	T	A	18: 37,442,676 (GRCm39)	V662E	probably damaging	Het
Plxna3	G	A	X: 73,379,400 (GRCm39)	G758S	probably damaging	Het
Prdm15	T	A	16: 97,607,717 (GRCm39)	N709Y	probably damaging	Het
Pygo2	C	T	3: 89,339,753 (GRCm39)		probably benign	Het
Ranbp2	T	A	10: 58,312,120 (GRCm39)	S947T	probably damaging	Het
Rasgrp1	T	A	2: 117,129,010 (GRCm39)	H203L	probably damaging	Het
Rbbp6	G	A	7: 122,587,841 (GRCm39)	G270R	probably damaging	Het
Rcl1	A	G	19: 29,098,662 (GRCm39)		probably null	Het
Rpl23a-ps1	T	C	1: 46,020,793 (GRCm39)		noncoding transcript	Het
Serpinb7	T	G	1: 107,363,110 (GRCm39)	H91Q	probably damaging	Het
Shd	C	T	17: 56,279,839 (GRCm39)	P111S	possibly damaging	Het
Slc35e1	G	T	8: 73,237,602 (GRCm39)		probably benign	Het
Srgap3	C	T	6: 112,752,647 (GRCm39)	R279H	probably damaging	Het
Sstr4	G	A	2: 148,237,472 (GRCm39)	E28K	probably benign	Het
Stip1	T	C	19: 6,998,464 (GRCm39)		probably benign	Het
Syne2	A	G	12: 75,973,288 (GRCm39)	E1097G	probably benign	Het
Tbcd	T	A	11: 121,431,819 (GRCm39)	V489E	probably damaging	Het
Tnks2	T	A	19: 36,849,033 (GRCm39)	S516R	probably benign	Het
Trmt44	T	A	5: 35,726,147 (GRCm39)	R343S	possibly damaging	Het
Trps1	A	G	15: 50,710,210 (GRCm39)	S47P	probably benign	Het
Ubr3	A	C	2: 69,747,441 (GRCm39)	K235Q	possibly damaging	Het
Uckl1	G	A	2: 181,216,754 (GRCm39)	Q48*	probably null	Het
Vat1	T	C	11: 101,356,541 (GRCm39)	D140G	probably benign	Het
Vmn2r80	A	G	10: 79,030,081 (GRCm39)	T636A	possibly damaging	Het
Zfp423	A	T	8: 88,508,239 (GRCm39)		probably null	Het
Zfp667	C	A	7: 6,293,545 (GRCm39)	T15N	probably damaging	Het

Other mutations in Npas1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-10-07