Mutagenetix > Incidental Mutation

Incidental Mutation 'R6086:Cybb'

482521

Institutional Source

Beutler Lab

Gene Symbol

Cybb

Ensembl Gene

ENSMUSG00000015340

Gene Name

cytochrome b-245, beta polypeptide

Synonyms

Cgd, Nox2, gp91phox, gp91

MMRRC Submission

044427-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6086 (G1)

Quality Score

221.999

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: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (65/68)

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
Apob	G	T	12: 8,065,164 (GRCm39)	K4044N	probably benign	Het
Asic4	G	A	1: 75,449,887 (GRCm39)	V468I	possibly damaging	Het
Atf4	T	A	15: 80,141,654 (GRCm39)	V348D	probably benign	Het
Bcl9	A	G	3: 97,112,840 (GRCm39)	V1205A	possibly damaging	Het
Bora	A	T	14: 99,299,730 (GRCm39)	Q234L	possibly damaging	Het
Cap2	C	A	13: 46,789,188 (GRCm39)	P131Q	probably damaging	Het
Cdyl2	A	G	8: 117,316,035 (GRCm39)	S318P	probably damaging	Het
Ces1a	T	G	8: 93,753,981 (GRCm39)	N341H	probably benign	Het
Cimap2	T	C	4: 106,470,403 (GRCm39)	E218G	probably damaging	Het
Crlf3	C	T	11: 79,939,436 (GRCm39)	V352M	possibly damaging	Het
Cyren	A	G	6: 34,851,555 (GRCm39)	S127P	probably damaging	Het
Dnah2	T	C	11: 69,406,834 (GRCm39)	T529A	probably benign	Het
Dnah9	C	T	11: 65,880,741 (GRCm39)	D2619N	probably damaging	Het
Dnah9	A	C	11: 65,976,000 (GRCm39)	S1350A	probably benign	Het
Dnajc6	C	T	4: 101,455,004 (GRCm39)	S65L	probably benign	Het
Dnm3	C	A	1: 162,148,602 (GRCm39)	R256S	probably damaging	Het
Enpp2	T	C	15: 54,709,230 (GRCm39)	D795G	probably damaging	Het
Fah	A	T	7: 84,238,120 (GRCm39)	W367R	probably damaging	Het
Fam220a	T	A	5: 143,548,796 (GRCm39)	H69Q	probably benign	Het
Fgd3	T	A	13: 49,440,772 (GRCm39)	T220S	probably benign	Het
Furin	G	T	7: 80,045,179 (GRCm39)	H248Q	probably damaging	Het
Gabrg1	A	T	5: 70,911,396 (GRCm39)	L410Q	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gm9742	T	C	13: 8,080,069 (GRCm39)		noncoding transcript	Het
Gpcpd1	A	G	2: 132,380,034 (GRCm39)	S252P	probably damaging	Het
Hnrnpdl	C	T	5: 100,184,340 (GRCm39)	G398S	probably null	Het
Hspa1l	T	C	17: 35,197,131 (GRCm39)	V390A	possibly damaging	Het
Htr3b	T	C	9: 48,858,598 (GRCm39)	S94G	probably benign	Het
Klf10	G	T	15: 38,297,181 (GRCm39)	S271R	probably benign	Het
Klk1b3	T	A	7: 43,851,158 (GRCm39)	L197Q	probably damaging	Het
Knl1	A	G	2: 118,924,549 (GRCm39)	R1861G	probably damaging	Het
Myo9a	C	T	9: 59,697,340 (GRCm39)	Q374*	probably null	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Ncapg	T	C	5: 45,850,578 (GRCm39)	L728P	probably damaging	Het
Nfxl1	A	C	5: 72,698,362 (GRCm39)	F228V	probably benign	Het
Ntaq1	C	A	15: 58,014,024 (GRCm39)	A71E	probably damaging	Het
Oc90	A	G	15: 65,761,560 (GRCm39)	S153P	probably damaging	Het
Or4c123	A	G	2: 89,127,198 (GRCm39)	C139R	probably damaging	Het
Or5b105	A	G	19: 13,079,745 (GRCm39)	*308Q	probably null	Het
Pbk	A	T	14: 66,052,702 (GRCm39)	K182*	probably null	Het
Piezo1	A	G	8: 123,228,396 (GRCm39)	F296S	possibly damaging	Het
Psmg1	T	A	16: 95,781,244 (GRCm39)	Y288F	probably damaging	Het
Rab11fip4	G	A	11: 79,574,306 (GRCm39)	D132N	probably damaging	Het
Recql4	T	C	15: 76,588,787 (GRCm39)	D1051G	probably damaging	Het
Reep5	A	C	18: 34,490,184 (GRCm39)	D104E	probably damaging	Het
Rnpepl1	T	C	1: 92,845,403 (GRCm39)	Y441H	probably damaging	Het
Scnm1	T	C	3: 95,037,596 (GRCm39)	I157V	probably benign	Het
Sema3b	T	C	9: 107,478,047 (GRCm39)	D446G	probably damaging	Het
Sema4d	C	T	13: 51,867,781 (GRCm39)	R190Q	probably damaging	Het
Slco3a1	G	A	7: 73,968,338 (GRCm39)	R461C	possibly damaging	Het
Spmap2l	T	A	5: 77,209,152 (GRCm39)	V458E	probably benign	Het
Tenm2	T	A	11: 35,899,473 (GRCm39)	I2562F	possibly damaging	Het
Tmem40	G	T	6: 115,710,628 (GRCm39)	N120K	possibly damaging	Het
Tmod3	T	C	9: 75,407,405 (GRCm39)	H351R	probably benign	Het
Tnn	C	T	1: 159,913,690 (GRCm39)	V1268M	probably damaging	Het
Tpmt	T	A	13: 47,188,506 (GRCm39)	D132V	probably damaging	Het
Trgc3	T	C	13: 19,447,454 (GRCm39)	S136P	probably damaging	Het
Trib1	G	A	15: 59,526,324 (GRCm39)	R298H	probably damaging	Het
Tsen2	A	G	6: 115,537,036 (GRCm39)	E264G	probably benign	Het
Urah	A	G	7: 140,416,711 (GRCm39)	I60M	probably benign	Het
Vmn2r26	T	A	6: 124,016,519 (GRCm39)	S328T	possibly damaging	Het
Vmn2r27	G	C	6: 124,168,958 (GRCm39)	T724R	probably damaging	Het
Washc2	A	G	6: 116,233,177 (GRCm39)		probably null	Het
Zfp955b	T	A	17: 33,521,478 (GRCm39)	W316R	probably benign	Het
Zranb2	T	C	3: 157,248,883 (GRCm39)		probably null	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
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
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'- ATGTTTCCCACATGTCCTGG -3'
(R):5'- TTGCGATATGTGCACAATCAG -3'

Posted On

2017-07-14