Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02869:Cybb'

362461

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cybb

Ensembl Gene

ENSMUSG00000015340

Gene Name

cytochrome b-245, beta polypeptide

Synonyms

Cgd, Nox2, gp91phox, gp91

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02869

Quality Score

Status

Chromosome

Chromosomal Location

9301493-9354005 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9308828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 469 (N469D)

Ref Sequence

ENSEMBL: ENSMUSP00000015484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015484] [ENSMUST00000164685]

AlphaFold

Q61093

Predicted Effect

probably benign
Transcript: ENSMUST00000015484
AA Change: N469D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000015484
Gene: ENSMUSG00000015340
AA Change: N469D

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:Ferric_reduct	54	220	8.4e-29	PFAM
Pfam:FAD_binding_6	292	395	1.6e-7	PFAM
Pfam:FAD_binding_8	292	395	1e-24	PFAM
Pfam:NAD_binding_6	401	551	5.7e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164685

SMART Domains

Protein: ENSMUSP00000128963
Gene: ENSMUSG00000015340

Domain	Start	End	E-Value	Type
transmembrane domain	10	29	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the heavy chain component of a heterodimeric transmembrane ion transporter composed of both a heavy and a light chain. This transporter mediates the transfer of electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to oxygen to generate superoxide. This reaction is important in the innate immune response to pathogens. However, increased activity of the encoded protein also leads to the generation of reactive oxygen species that result in oxidative stress and can cause tissue damage. Conversely, loss of function of the related gene in human causes chronic granulomatous disease. Alternative splicing results in multiple transcript variants, although the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]
PHENOTYPE: Nullizygous mice show alterations in acute inflammation, synaptic plasticity, memory, metastatic potential, susceptibility to infection and induced GI injury, inflammatory response to chemical peritonitis, vascular response to Ang II, hypoxia-induced LV remodeling, and L-NAME-caused renal responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,685,323 (GRCm39)	S1142T	possibly damaging	Het
Aadacl4fm5	T	C	4: 144,512,938 (GRCm39)	I54V	probably benign	Het
Actr3b	T	G	5: 26,037,433 (GRCm39)	V215G	probably damaging	Het
Adam9	C	T	8: 25,460,634 (GRCm39)	V617M	probably damaging	Het
Adgrl2	G	T	3: 148,596,241 (GRCm39)	P32T	probably damaging	Het
Afg2a	G	T	3: 37,518,694 (GRCm39)	G743W	probably damaging	Het
Ago3	A	T	4: 126,261,580 (GRCm39)		probably benign	Het
Allc	A	C	12: 28,623,206 (GRCm39)	I20M	probably benign	Het
Asic3	G	A	5: 24,621,972 (GRCm39)	W361*	probably null	Het
Atf7ip	A	G	6: 136,583,577 (GRCm39)	K1203E	probably damaging	Het
Babam2	C	A	5: 32,162,116 (GRCm39)	H272Q	possibly damaging	Het
Baz2b	G	A	2: 59,807,872 (GRCm39)	T129I	probably benign	Het
C130073F10Rik	A	T	4: 101,747,590 (GRCm39)	Y146*	probably null	Het
Cd247	A	G	1: 165,684,986 (GRCm39)	E74G	probably damaging	Het
Cdh17	A	T	4: 11,814,908 (GRCm39)	Q778L	probably benign	Het
Ceacam1	T	C	7: 25,175,966 (GRCm39)	D76G	probably benign	Het
Cela3a	T	C	4: 137,131,145 (GRCm39)	K198E	probably benign	Het
Cemip2	T	A	19: 21,789,241 (GRCm39)	D558E	probably damaging	Het
Ces2a	T	A	8: 105,465,691 (GRCm39)	D281E	probably damaging	Het
Cetn2	A	T	X: 71,958,527 (GRCm39)	D116E	probably damaging	Het
Cracd	A	G	5: 77,006,890 (GRCm39)	K1084E	unknown	Het
Ctu2	G	T	8: 123,205,530 (GRCm39)		probably null	Het
Cygb	C	T	11: 116,540,749 (GRCm39)	R79Q	probably damaging	Het
Cyp2d10	C	T	15: 82,288,069 (GRCm39)	V186M	possibly damaging	Het
Defb29	T	A	2: 152,380,942 (GRCm39)		probably null	Het
Depdc7	T	G	2: 104,560,694 (GRCm39)	Q100P	probably damaging	Het
Dhx30	A	C	9: 109,926,251 (GRCm39)	I91R	probably damaging	Het
Dnm1l	T	A	16: 16,159,288 (GRCm39)	K105*	probably null	Het
Eddm13	T	C	7: 6,272,898 (GRCm39)		probably benign	Het
Efhc1	T	C	1: 21,037,567 (GRCm39)	I248T	probably damaging	Het
Elapor1	A	G	3: 108,380,182 (GRCm39)	I309T	probably benign	Het
Entpd2	A	G	2: 25,288,120 (GRCm39)	T115A	probably damaging	Het
Epb42	G	T	2: 120,856,227 (GRCm39)	A439E	probably benign	Het
Esm1	T	G	13: 113,346,618 (GRCm39)	L81R	probably damaging	Het
F8	T	C	X: 74,330,987 (GRCm39)	S968G	probably benign	Het
Fam234b	T	G	6: 135,202,201 (GRCm39)	Y308D	probably damaging	Het
Fbxo46	T	G	7: 18,871,139 (GRCm39)	V586G	probably damaging	Het
Foxp1	C	A	6: 98,907,044 (GRCm39)		probably benign	Het
Gm10754	A	T	10: 97,518,136 (GRCm39)		probably benign	Het
Gm12695	A	C	4: 96,650,370 (GRCm39)		probably benign	Het
Gm5468	T	C	15: 25,414,726 (GRCm39)		probably benign	Het
Grhl1	T	C	12: 24,631,490 (GRCm39)	S66P	probably damaging	Het
Gstt3	A	T	10: 75,612,576 (GRCm39)		probably null	Het
Gtf2i	A	G	5: 134,308,281 (GRCm39)		probably benign	Het
Gzmk	C	A	13: 113,308,560 (GRCm39)	G175C	probably damaging	Het
Helz2	T	C	2: 180,872,939 (GRCm39)		probably benign	Het
Ift20	T	C	11: 78,430,780 (GRCm39)		probably benign	Het
Intu	A	G	3: 40,642,216 (GRCm39)	D491G	probably damaging	Het
Itch	G	T	2: 155,015,853 (GRCm39)		probably null	Het
Itgb5	A	G	16: 33,665,362 (GRCm39)	N26S	possibly damaging	Het
Lama2	A	T	10: 26,891,534 (GRCm39)	S2526R	probably damaging	Het
Lat2	A	G	5: 134,637,027 (GRCm39)	I40T	probably damaging	Het
Lipa	T	A	19: 34,471,397 (GRCm39)	M393L	probably benign	Het
Lipa	G	T	19: 34,471,371 (GRCm39)		probably benign	Het
Lpcat1	T	A	13: 73,632,417 (GRCm39)	L10H	probably damaging	Het
Lpcat3	T	C	6: 124,679,970 (GRCm39)	Y348H	possibly damaging	Het
Lrp1b	A	T	2: 40,591,842 (GRCm39)	N50K	unknown	Het
Lrrk2	T	A	15: 91,634,480 (GRCm39)	Y1415N	probably damaging	Het
Lsamp	A	T	16: 41,965,078 (GRCm39)	T312S	probably benign	Het
Man2a2	T	C	7: 80,013,689 (GRCm39)	E454G	probably benign	Het
Mcm3	T	C	1: 20,879,063 (GRCm39)	K570R	probably damaging	Het
Mctp2	C	A	7: 71,878,219 (GRCm39)		probably null	Het
Msantd2	T	G	9: 37,434,796 (GRCm39)	C345W	probably damaging	Het
Musk	T	C	4: 58,354,078 (GRCm39)	I362T	probably benign	Het
Myh15	A	T	16: 48,965,767 (GRCm39)	N1224I	probably benign	Het
Myo18a	A	G	11: 77,755,612 (GRCm39)	Y1983C	probably damaging	Het
Myo18a	C	T	11: 77,720,699 (GRCm39)		probably benign	Het
Myrfl	G	T	10: 116,664,909 (GRCm39)	Q374K	probably damaging	Het
Ndrg1	T	A	15: 66,818,346 (GRCm39)	Q87H	probably benign	Het
Nol9	G	A	4: 152,131,030 (GRCm39)	C351Y	probably damaging	Het
Nr5a1	A	G	2: 38,598,141 (GRCm39)	S219P	probably benign	Het
Or8b43	T	C	9: 38,360,489 (GRCm39)	F107S	possibly damaging	Het
Or8g28	A	T	9: 39,169,520 (GRCm39)	Y149*	probably null	Het
Pcdhb19	A	G	18: 37,631,690 (GRCm39)	D495G	probably damaging	Het
Pfkm	A	G	15: 98,026,123 (GRCm39)	M573V	probably damaging	Het
Plec	A	T	15: 76,065,516 (GRCm39)	L1586Q	probably damaging	Het
Prelp	C	A	1: 133,843,005 (GRCm39)	E47*	probably null	Het
Rbm33	T	A	5: 28,615,753 (GRCm39)	I32N	probably damaging	Het
Rgs12	A	T	5: 35,183,227 (GRCm39)	D310V	probably damaging	Het
Ripor2	A	C	13: 24,880,512 (GRCm39)	H404P	possibly damaging	Het
Sh3d21	T	C	4: 126,056,034 (GRCm39)	E124G	probably benign	Het
Shroom2	C	T	X: 151,442,549 (GRCm39)	S872N	probably benign	Het
Slc44a5	A	G	3: 153,956,651 (GRCm39)	Y301C	probably damaging	Het
Smap1	A	T	1: 23,930,995 (GRCm39)	H66Q	possibly damaging	Het
Smyd1	G	T	6: 71,198,007 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,093,573 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,146 (GRCm39)	R76*	probably null	Het
Stag3	A	G	5: 138,280,955 (GRCm39)	K49R	probably damaging	Het
Stim1	C	A	7: 101,917,758 (GRCm39)	A46E	unknown	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tbc1d19	A	G	5: 53,992,559 (GRCm39)	T114A	probably benign	Het
Tln2	G	A	9: 67,128,807 (GRCm39)		probably benign	Het
Trmt10a	T	A	3: 137,857,945 (GRCm39)		probably null	Het
Vwde	G	A	6: 13,187,136 (GRCm39)	H784Y	probably damaging	Het
Zfp773	T	C	7: 7,137,232 (GRCm39)	T121A	probably benign	Het

Other mutations in Cybb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01125:Cybb	APN	X	9,312,983 (GRCm39)	missense	possibly damaging	0.46
IGL02145:Cybb	APN	X	9,323,257 (GRCm39)	missense	probably damaging	1.00
IGL02626:Cybb	APN	X	9,335,439 (GRCm39)	splice site	probably null
IGL02644:Cybb	APN	X	9,333,395 (GRCm39)	missense	probably benign	0.00
IGL03145:Cybb	APN	X	9,319,892 (GRCm39)	nonsense	probably null
R3978:Cybb	UTSW	X	9,310,827 (GRCm39)	missense	probably damaging	1.00
R3980:Cybb	UTSW	X	9,310,827 (GRCm39)	missense	probably damaging	1.00
R4758:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R4761:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R4787:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R4788:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R4793:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R4847:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R4901:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R4902:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R4904:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R4914:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R4915:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R4916:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R5058:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R5246:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R5416:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R5519:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R5538:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R5539:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R5576:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R5578:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R5728:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R5729:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R5761:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R5762:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R5927:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R6057:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R6086:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R6144:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
R6147:Cybb	UTSW	X	9,316,989 (GRCm39)	missense	probably benign	0.10
Z1176:Cybb	UTSW	X	9,306,240 (GRCm39)	missense	probably damaging	0.96
Z1176:Cybb	UTSW	X	9,304,479 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-12-18