Mutagenetix > Incidental Mutation

Incidental Mutation 'R5058:Cybb'

391067

Institutional Source

Beutler Lab

Gene Symbol

Cybb

Ensembl Gene

ENSMUSG00000015340

Gene Name

cytochrome b-245, beta polypeptide

Synonyms

gp91phox, gp91, Cgd, Nox2

MMRRC Submission

042648-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5058 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

9435252-9487771 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 9450750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Histidine at position 246 (D246H)

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: D246H

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000015484
Gene: ENSMUSG00000015340
AA Change: D246H

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

noncoding transcript
Transcript: ENSMUST00000154503

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

100% (79/79)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,242,625	Y222C	probably damaging	Het
Adprhl2	A	G	4: 126,318,445	S94P	probably damaging	Het
Atp11b	A	G	3: 35,809,361	E202G	probably benign	Het
Cacna1d	G	T	14: 30,114,244	S849*	probably null	Het
Camsap1	T	C	2: 25,939,363	D783G	probably benign	Het
Cbfa2t2	T	A	2: 154,504,745	I124N	probably damaging	Het
Ccdc13	A	T	9: 121,817,547		probably benign	Het
Cfap44	G	A	16: 44,420,204		probably null	Het
Col17a1	C	A	19: 47,685,550	E13*	probably null	Het
Dennd6b	A	G	15: 89,187,350	L288P	possibly damaging	Het
Dhx37	A	C	5: 125,422,231	Y638D	probably benign	Het
Epb41	G	A	4: 132,007,435		probably benign	Het
Esp31	A	T	17: 38,644,609	I48L	possibly damaging	Het
Fat3	T	C	9: 15,996,858	Q2616R	probably damaging	Het
Fbxo33	A	G	12: 59,219,133	I116T	probably benign	Het
Flnb	G	T	14: 7,924,262	E1792*	probably null	Het
Fzd2	G	A	11: 102,604,807	G26R	probably damaging	Het
Gm11677	T	A	11: 111,725,438		noncoding transcript	Het
Gm7137	A	T	10: 77,788,071		probably benign	Het
Hnrnpr	A	G	4: 136,336,337	T252A	possibly damaging	Het
Hyal5	T	C	6: 24,891,485	F433L	probably damaging	Het
Kcnmb4	T	A	10: 116,463,928		probably benign	Het
Meltf	A	G	16: 31,887,603		probably null	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Muc6	T	C	7: 141,644,224	D1213G	probably benign	Het
Ncam1	A	C	9: 49,798,695	F12C	probably benign	Het
Nfxl1	A	T	5: 72,556,239	D120E	probably benign	Het
Nrg1	T	C	8: 31,824,559	Q142R	probably damaging	Het
Olfr132	G	A	17: 38,130,541	S217F	probably damaging	Het
Olfr180	T	C	16: 58,916,072	T190A	probably benign	Het
Olfr250	C	A	9: 38,367,924	T116K	probably damaging	Het
Olfr347	T	G	2: 36,734,999	L226R	possibly damaging	Het
Olfr466	C	A	13: 65,152,929	A235D	possibly damaging	Het
Olfr684	T	C	7: 105,157,148	N178S	probably damaging	Het
Olfr948	C	A	9: 39,318,664	V317L	probably benign	Het
Olfr95	A	G	17: 37,211,667	L62P	probably damaging	Het
Padi2	G	T	4: 140,932,121	V246L	probably benign	Het
Pgghg	C	T	7: 140,942,542	T63I	possibly damaging	Het
Pitpnm1	A	G	19: 4,112,758	N1117S	probably benign	Het
Plch1	G	T	3: 63,722,781	T534K	probably damaging	Het
Poc1a	G	T	9: 106,349,813		probably benign	Het
Polr3c	T	C	3: 96,723,517	I196V	probably benign	Het
Prph	A	T	15: 99,055,232		probably benign	Het
Ptprg	C	A	14: 12,037,387	T189K	possibly damaging	Het
R3hcc1	A	T	14: 69,704,014	I183N	probably damaging	Het
Rundc1	T	C	11: 101,425,537	L145P	probably benign	Het
Slc26a3	A	G	12: 31,470,965	K723E	possibly damaging	Het
Slc38a3	T	C	9: 107,659,191	E2G	possibly damaging	Het
Slc9a5	G	T	8: 105,355,858	V252L	probably benign	Het
Smim26	C	T	2: 144,595,123	T64M	probably benign	Het
Socs4	C	T	14: 47,290,132	R175*	probably null	Het
Srebf2	T	C	15: 82,182,050	S600P	probably damaging	Het
Tas2r107	A	T	6: 131,659,742	S115T	probably damaging	Het
Tenm2	T	C	11: 36,207,080	D447G	possibly damaging	Het
Thbs2	T	A	17: 14,676,329	D766V	probably damaging	Het
Tinagl1	A	G	4: 130,167,457	V300A	probably benign	Het
Tle6	T	A	10: 81,594,238	N332I	possibly damaging	Het
Tle6	C	A	10: 81,595,957	W151L	probably damaging	Het
Tnfrsf13c	C	T	15: 82,224,207	V36M	probably damaging	Het
Tns2	T	C	15: 102,107,860	I211T	possibly damaging	Het
Trp63	A	G	16: 25,882,594	N379D	probably damaging	Het
Trpc2	T	C	7: 102,089,109	W433R	probably damaging	Het
Tyw1	T	A	5: 130,277,086	L350Q	probably benign	Het
Usf3	T	C	16: 44,212,707	L76P	probably damaging	Het
Vmn2r79	T	C	7: 87,002,215	L274P	probably damaging	Het

Other mutations in Cybb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01125:Cybb	APN	X	9446744	missense	possibly damaging	0.46
IGL02145:Cybb	APN	X	9457018	missense	probably damaging	1.00
IGL02626:Cybb	APN	X	9469200	splice site	probably null
IGL02644:Cybb	APN	X	9467156	missense	probably benign	0.00
IGL02869:Cybb	APN	X	9442589	missense	probably benign	0.00
IGL03145:Cybb	APN	X	9453653	nonsense	probably null
R3978:Cybb	UTSW	X	9444588	missense	probably damaging	1.00
R3980:Cybb	UTSW	X	9444588	missense	probably damaging	1.00
R4758:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R4761:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R4787:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R4788:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R4793:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R4847:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R4901:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R4902:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R4904:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R4914:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R4915:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R4916:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R5246:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R5416:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R5519:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R5538:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R5539:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R5576:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R5578:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R5728:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R5729:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R5761:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R5762:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R5927:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R6057:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R6086:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R6144:Cybb	UTSW	X	9450750	missense	probably benign	0.10
R6147:Cybb	UTSW	X	9450750	missense	probably benign	0.10
Z1176:Cybb	UTSW	X	9438240	missense	probably damaging	0.99
Z1176:Cybb	UTSW	X	9440001	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCCCACATGTCCTGGTTTGG -3'
(R):5'- TTTGCGATATGTGCACAATCAG -3'

Sequencing Primer
(F):5'- CTTCTCAACTTGACACATGCTAGAG -3'
(R):5'- CACAATCAGTGTTGAGGATATAGGCC -3'

Posted On

2016-06-06