Mutagenetix > Incidental Mutation

Incidental Mutation 'R5538:Cybb'

434964

Institutional Source

Beutler Lab

Gene Symbol

Cybb

Ensembl Gene

ENSMUSG00000015340

Gene Name

cytochrome b-245, beta polypeptide

Synonyms

Cgd, Nox2, gp91phox, gp91

MMRRC Submission

043096-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5538 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

9301493-9354005 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 9316989 bp (GRCm39)

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: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

94% (73/78)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	A	13: 81,581,808 (GRCm39)	R4745S	probably benign	Het
Ank3	A	G	10: 69,823,257 (GRCm39)	E642G	probably damaging	Het
Arhgap11a	G	T	2: 113,667,875 (GRCm39)	D375E	probably benign	Het
Arl8b	C	A	6: 108,760,297 (GRCm39)	L28M	probably damaging	Het
Bbs2	G	A	8: 94,816,391 (GRCm39)	T157M	probably damaging	Het
C2cd3	T	A	7: 100,104,700 (GRCm39)		probably null	Het
C6	T	A	15: 4,844,311 (GRCm39)	I911N	possibly damaging	Het
Cc2d2a	T	C	5: 43,852,518 (GRCm39)	I365T	possibly damaging	Het
Cd46	T	G	1: 194,750,478 (GRCm39)		probably null	Het
Ceacam3	A	T	7: 16,892,346 (GRCm39)	D363V	probably damaging	Het
Cep63	A	T	9: 102,465,992 (GRCm39)	L678*	probably null	Het
Clasrp	A	C	7: 19,318,707 (GRCm39)		probably benign	Het
Clk2	T	A	3: 89,082,962 (GRCm39)	Y412N	probably damaging	Het
Col24a1	C	T	3: 144,998,882 (GRCm39)	A5V	probably damaging	Het
Cox16	T	C	12: 81,531,703 (GRCm39)	N13D	possibly damaging	Het
Dhx32	A	T	7: 133,324,946 (GRCm39)	M437K	probably benign	Het
Dnm2	T	C	9: 21,416,923 (GRCm39)	F819L	probably benign	Het
Dpysl4	A	G	7: 138,671,906 (GRCm39)	T85A	probably benign	Het
Dspp	A	T	5: 104,323,096 (GRCm39)	K80*	probably null	Het
Dync2h1	T	C	9: 7,168,630 (GRCm39)		probably benign	Het
Ern1	A	G	11: 106,312,727 (GRCm39)	V218A	possibly damaging	Het
Fbn2	G	A	18: 58,204,973 (GRCm39)	R1157C	probably benign	Het
Fez1	T	A	9: 36,780,172 (GRCm39)	I323N	probably damaging	Het
Fmo9	T	A	1: 166,501,198 (GRCm39)	T199S	probably benign	Het
Fry	T	A	5: 150,419,313 (GRCm39)	L915Q	probably damaging	Het
Gatd1	A	G	7: 140,986,758 (GRCm39)		probably benign	Het
Gm10719	T	C	9: 3,018,962 (GRCm39)	L69S	probably benign	Het
Gnpda2	A	T	5: 69,735,394 (GRCm39)	H230Q	probably damaging	Het
Gramd1c	T	A	16: 43,802,455 (GRCm39)	N652I	probably damaging	Het
H2-T13	T	A	17: 36,392,178 (GRCm39)	H178L	probably benign	Het
Hells	T	A	19: 38,942,096 (GRCm39)	F462Y	probably benign	Het
Htr7	A	G	19: 35,947,235 (GRCm39)	F260L	probably benign	Het
Itsn1	C	A	16: 91,580,990 (GRCm39)	A23D	probably damaging	Het
Jak3	A	G	8: 72,131,417 (GRCm39)	D94G	probably benign	Het
Kctd16	T	A	18: 40,390,319 (GRCm39)	Y97*	probably null	Het
Kif20b	A	T	19: 34,930,364 (GRCm39)	K25*	probably null	Het
Klf2	T	C	8: 73,073,316 (GRCm39)	L40P	probably damaging	Het
Kmt2a	A	G	9: 44,731,639 (GRCm39)		probably benign	Het
Kmt2d	G	A	15: 98,749,990 (GRCm39)		probably benign	Het
Lonrf1	T	A	8: 36,690,178 (GRCm39)		probably null	Het
Lrp1b	A	T	2: 40,587,486 (GRCm39)	I154K	unknown	Het
Mybpc1	T	A	10: 88,381,891 (GRCm39)	I600L	possibly damaging	Het
Npnt	T	C	3: 132,610,724 (GRCm39)	N285S	probably damaging	Het
Or4c12b	T	A	2: 89,646,964 (GRCm39)	F92Y	probably damaging	Het
Or51h5	A	G	7: 102,577,728 (GRCm39)	T298A	probably damaging	Het
Or6c69	T	A	10: 129,747,871 (GRCm39)	Y92F	probably benign	Het
Or6n1	T	C	1: 173,917,544 (GRCm39)	*313R	probably null	Het
Pcnx1	T	C	12: 81,907,183 (GRCm39)	V13A	probably damaging	Het
Phkb	G	A	8: 86,648,756 (GRCm39)	V191I	possibly damaging	Het
Pnpla6	A	G	8: 3,581,508 (GRCm39)	M594V	probably benign	Het
Potefam3e	A	C	8: 19,799,430 (GRCm39)		probably null	Het
Prkdc	A	G	16: 15,469,333 (GRCm39)	E146G	probably damaging	Het
Ror1	T	C	4: 100,298,208 (GRCm39)	M527T	probably benign	Het
Scnm1	A	G	3: 95,037,066 (GRCm39)		probably benign	Het
Skint11	A	T	4: 114,088,959 (GRCm39)	N251I	probably damaging	Het
Slc19a3	T	A	1: 83,000,282 (GRCm39)	N245I	possibly damaging	Het
Slc1a3	A	T	15: 8,675,188 (GRCm39)	D272E	probably damaging	Het
Smok2b	T	A	17: 13,454,440 (GRCm39)	V200D	possibly damaging	Het
Sspo	T	C	6: 48,429,112 (GRCm39)	Y417H	probably damaging	Het
Stk11ip	C	A	1: 75,504,979 (GRCm39)	S388R	probably damaging	Het
Svep1	T	C	4: 58,049,282 (GRCm39)		probably null	Het
Sytl2	A	G	7: 90,038,114 (GRCm39)	I525V	probably benign	Het
Tie1	T	C	4: 118,343,390 (GRCm39)	N158D	probably benign	Het
Tle2	T	C	10: 81,416,418 (GRCm39)	L180P	probably damaging	Het
Txlnb	T	C	10: 17,714,657 (GRCm39)	L363P	probably damaging	Het
Upk3b	C	G	5: 136,072,890 (GRCm39)	A258G	probably benign	Het
Usp32	A	T	11: 84,908,612 (GRCm39)	D1031E	possibly damaging	Het
Vmn2r116	C	T	17: 23,620,041 (GRCm39)	L592F	probably benign	Het
Zfp607b	A	G	7: 27,402,294 (GRCm39)	H250R	probably damaging	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
IGL02869:Cybb	APN	X	9,308,828 (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
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

Predicted Primers

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

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

Posted On

2016-10-24