Mutagenetix > Incidental Mutation

Incidental Mutation 'R0322:Noxa1'

25597

Institutional Source

Beutler Lab

Gene Symbol

Noxa1

Ensembl Gene

ENSMUSG00000036805

Gene Name

NADPH oxidase activator 1

Synonyms

MMRRC Submission

038532-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0322 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24975679-24985161 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24982566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 83 (F83S)

Ref Sequence

ENSEMBL: ENSMUSP00000110014 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044018] [ENSMUST00000114373]

AlphaFold

Q8CJ00

Predicted Effect

probably damaging
Transcript: ENSMUST00000044018
AA Change: F83S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037423
Gene: ENSMUSG00000036805
AA Change: F83S

Domain	Start	End	E-Value	Type
TPR	38	71	8.17e-1	SMART
TPR	72	105	1.47e-2	SMART
TPR	122	155	1.97e1	SMART
low complexity region	166	180	N/A	INTRINSIC
low complexity region	258	274	N/A	INTRINSIC
PB1	285	365	6.76e-9	SMART
SH3	372	427	1.81e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114373
AA Change: F83S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110014
Gene: ENSMUSG00000036805
AA Change: F83S

Domain	Start	End	E-Value	Type
TPR	38	71	8.17e-1	SMART
TPR	72	105	1.47e-2	SMART
TPR	122	155	1.97e1	SMART
low complexity region	166	180	N/A	INTRINSIC
low complexity region	250	266	N/A	INTRINSIC
PB1	277	357	6.76e-9	SMART
SH3	364	419	1.81e-14	SMART

Meta Mutation Damage Score

0.5294

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.8%
20x: 84.3%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a targeted allele removing exons 3 through 6 exhibit no overt phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,888,768 (GRCm39)	S275T	possibly damaging	Het
Adam34	G	T	8: 44,104,958 (GRCm39)	T229N	probably benign	Het
Adgrb3	C	A	1: 25,260,829 (GRCm39)		probably benign	Het
Ankhd1	T	A	18: 36,791,061 (GRCm39)	Y2478*	probably null	Het
Arl9	A	G	5: 77,155,037 (GRCm39)		probably benign	Het
Bub1b	G	A	2: 118,470,099 (GRCm39)		probably benign	Het
Chl1	A	T	6: 103,678,844 (GRCm39)		probably benign	Het
Cobl	T	A	11: 12,217,072 (GRCm39)	E465V	probably damaging	Het
Cobll1	A	T	2: 64,932,442 (GRCm39)	M520K	possibly damaging	Het
Dll3	A	G	7: 27,995,793 (GRCm39)	V336A	possibly damaging	Het
Dnmbp	T	C	19: 43,843,285 (GRCm39)	H1193R	probably damaging	Het
Fbxo43	T	C	15: 36,152,338 (GRCm39)		probably benign	Het
Gart	G	A	16: 91,419,925 (GRCm39)		probably benign	Het
Gjc3	A	T	5: 137,955,760 (GRCm39)	M175K	possibly damaging	Het
Gpc5	T	A	14: 115,636,563 (GRCm39)	N415K	probably benign	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Il7r	A	T	15: 9,510,301 (GRCm39)	F251I	probably benign	Het
Insc	A	G	7: 114,391,500 (GRCm39)	E141G	probably damaging	Het
Itm2c	C	T	1: 85,834,751 (GRCm39)	T160M	probably damaging	Het
Mboat1	T	C	13: 30,416,063 (GRCm39)		probably benign	Het
Mdm2	G	T	10: 117,538,109 (GRCm39)	H96Q	possibly damaging	Het
Mettl13	A	G	1: 162,371,745 (GRCm39)		probably benign	Het
Mfsd4b3-ps	T	C	10: 39,823,526 (GRCm39)	N245D	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mtmr3	T	C	11: 4,437,505 (GRCm39)	Y982C	possibly damaging	Het
Mymk	A	T	2: 26,957,418 (GRCm39)	L66Q	probably damaging	Het
Myo18a	T	C	11: 77,720,626 (GRCm39)	S767P	probably damaging	Het
Ndufa8	T	C	2: 35,926,634 (GRCm39)	D134G	probably benign	Het
Npc1l1	T	A	11: 6,179,042 (GRCm39)	I123L	probably benign	Het
Ogdhl	A	G	14: 32,059,534 (GRCm39)	T394A	probably benign	Het
Or4s2b	T	C	2: 88,509,011 (GRCm39)	S264P	probably damaging	Het
Or5ae1	A	G	7: 84,565,521 (GRCm39)	Y178C	probably damaging	Het
Pcdh20	T	C	14: 88,706,383 (GRCm39)	T306A	probably benign	Het
Pcid2	G	A	8: 13,140,775 (GRCm39)		probably benign	Het
Phyhip	G	A	14: 70,700,836 (GRCm39)	V108M	possibly damaging	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Psmb4	A	G	3: 94,793,402 (GRCm39)	Y160H	probably benign	Het
Riox2	A	T	16: 59,309,752 (GRCm39)	K369*	probably null	Het
Rnf26rt	T	C	6: 76,473,401 (GRCm39)	Y405C	probably benign	Het
Sh3tc1	G	A	5: 35,863,905 (GRCm39)	P761S	possibly damaging	Het
Slc6a3	T	A	13: 73,709,045 (GRCm39)	V323D	possibly damaging	Het
Smg7	A	G	1: 152,725,624 (GRCm39)		probably null	Het
Srrt	G	A	5: 137,294,870 (GRCm39)	R370C	probably damaging	Het
Stc1	T	C	14: 69,266,858 (GRCm39)	V7A	probably benign	Het
Svep1	G	T	4: 58,057,996 (GRCm39)		probably benign	Het
Tbpl2	A	G	2: 23,984,991 (GRCm39)	V51A	probably benign	Het
Tecr	A	G	8: 84,298,872 (GRCm39)	Y248H	probably damaging	Het
Tenm3	A	G	8: 48,689,947 (GRCm39)		probably benign	Het
Tia1	C	T	6: 86,397,369 (GRCm39)	A114V	probably damaging	Het
Tmprss11f	A	T	5: 86,739,275 (GRCm39)	M2K	probably benign	Het
Tnfsf8	T	C	4: 63,752,403 (GRCm39)	T221A	probably damaging	Het
Tubgcp5	G	A	7: 55,464,726 (GRCm39)	G536S	probably damaging	Het
Tyr	A	T	7: 87,142,125 (GRCm39)	I145N	probably benign	Het
Ubr4	T	A	4: 139,149,729 (GRCm39)	V1809E	probably damaging	Het
Vmn2r65	A	T	7: 84,595,756 (GRCm39)	N309K	probably benign	Het

Other mutations in Noxa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Noxa1	APN	2	24,984,914 (GRCm39)	missense	probably benign	0.37
IGL01316:Noxa1	APN	2	24,976,023 (GRCm39)	missense	probably benign	0.22
IGL02274:Noxa1	APN	2	24,975,767 (GRCm39)	missense	probably benign	0.15
IGL02528:Noxa1	APN	2	24,980,645 (GRCm39)	unclassified	probably benign
IGL02952:Noxa1	APN	2	24,981,773 (GRCm39)	missense	probably damaging	1.00
IGL03286:Noxa1	APN	2	24,975,732 (GRCm39)	splice site	probably null
IGL03330:Noxa1	APN	2	24,980,526 (GRCm39)	missense	possibly damaging	0.48
R0357:Noxa1	UTSW	2	24,975,862 (GRCm39)	missense	probably damaging	1.00
R0636:Noxa1	UTSW	2	24,976,106 (GRCm39)	unclassified	probably benign
R0909:Noxa1	UTSW	2	24,981,806 (GRCm39)	missense	probably damaging	1.00
R1459:Noxa1	UTSW	2	24,982,558 (GRCm39)	missense	probably benign	0.06
R1702:Noxa1	UTSW	2	24,982,596 (GRCm39)	missense	probably damaging	1.00
R1958:Noxa1	UTSW	2	24,980,620 (GRCm39)	missense	probably damaging	0.99
R4618:Noxa1	UTSW	2	24,981,761 (GRCm39)	missense	probably damaging	1.00
R5104:Noxa1	UTSW	2	24,976,246 (GRCm39)	missense	probably benign	0.18
R5606:Noxa1	UTSW	2	24,976,292 (GRCm39)	missense	possibly damaging	0.67
R5619:Noxa1	UTSW	2	24,975,988 (GRCm39)	missense	probably damaging	0.99
R5826:Noxa1	UTSW	2	24,976,253 (GRCm39)	missense	probably damaging	0.98
R6076:Noxa1	UTSW	2	24,975,821 (GRCm39)	missense	probably damaging	1.00
R6920:Noxa1	UTSW	2	24,981,844 (GRCm39)	splice site	probably null
R8112:Noxa1	UTSW	2	24,982,553 (GRCm39)	critical splice donor site	probably null
R8794:Noxa1	UTSW	2	24,984,852 (GRCm39)	missense	probably benign	0.00
R9783:Noxa1	UTSW	2	24,985,053 (GRCm39)	start gained	probably benign
X0021:Noxa1	UTSW	2	24,980,226 (GRCm39)	missense	possibly damaging	0.95
X0025:Noxa1	UTSW	2	24,980,503 (GRCm39)	critical splice donor site	probably null
Z1176:Noxa1	UTSW	2	24,980,285 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGGGATAAGCCCTGGTTTTCACATC -3'
(R):5'- CTTTAACTGGACAGTGGTCCTCAGC -3'

Sequencing Primer
(F):5'- GGTTTTCACATCTGCAAATTGGC -3'
(R):5'- CTAGGCATTTGACCAAGCAG -3'

Posted On

2013-04-16