Mutagenetix > Incidental Mutation

Incidental Mutation 'R3980:Cybb'

311299

Institutional Source

Beutler Lab

Gene Symbol

Cybb

Ensembl Gene

ENSMUSG00000015340

Gene Name

cytochrome b-245, beta polypeptide

Synonyms

Cgd, Nox2, gp91phox, gp91

MMRRC Submission

040843-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3980 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

9301493-9354005 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9310827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 425 (Y425C)

Ref Sequence

ENSEMBL: ENSMUSP00000015484 (fasta)

Gene Model

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

AlphaFold

Q61093

Predicted Effect

probably damaging
Transcript: ENSMUST00000015484
AA Change: Y425C

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

SMART Domains

Protein: ENSMUSP00000015484
Gene: ENSMUSG00000015340
AA Change: Y425C

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

0.6880

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	G	A	15: 74,454,792 (GRCm39)	G268R	probably damaging	Het
Amacr	T	A	15: 10,989,015 (GRCm39)	Y240*	probably null	Het
Ankhd1	A	T	18: 36,780,666 (GRCm39)	H1906L	probably damaging	Het
Arhgef25	C	A	10: 127,023,089 (GRCm39)	C106F	probably damaging	Het
Bean1	A	T	8: 104,937,730 (GRCm39)	Q103L	possibly damaging	Het
Ccr9	A	T	9: 123,608,441 (GRCm39)	N41I	probably benign	Het
Ceacam16	A	G	7: 19,592,558 (GRCm39)	F117L	probably benign	Het
Col4a1	T	C	8: 11,289,155 (GRCm39)		probably benign	Het
Csk	A	G	9: 57,538,063 (GRCm39)	Y48H	probably damaging	Het
Csmd1	T	A	8: 15,956,056 (GRCm39)	K3384*	probably null	Het
Ctnnd2	T	A	15: 30,669,589 (GRCm39)	H399Q	probably benign	Het
Cutal	T	C	2: 34,772,325 (GRCm39)	Y30H	possibly damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Defb30	C	A	14: 63,273,421 (GRCm39)	C64F	probably damaging	Het
Eif2a	T	C	3: 58,446,960 (GRCm39)	I45T	probably benign	Het
Esyt1	T	A	10: 128,347,393 (GRCm39)	D1044V	probably damaging	Het
Gabpb2	A	T	3: 95,096,081 (GRCm39)	V382E	probably damaging	Het
Glb1	T	A	9: 114,246,132 (GRCm39)	I61K	probably damaging	Het
Insyn2b	G	A	11: 34,352,678 (GRCm39)	C240Y	probably benign	Het
Kcnt1	T	C	2: 25,783,226 (GRCm39)	V263A	possibly damaging	Het
Kdm5b	A	G	1: 134,547,408 (GRCm39)	D1019G	probably benign	Het
Klhl2	A	T	8: 65,196,109 (GRCm39)	L545M	probably damaging	Het
Klhl2	C	A	8: 65,196,115 (GRCm39)	G543C	probably damaging	Het
Krt31	G	T	11: 99,939,030 (GRCm39)	Q264K	probably damaging	Het
Lmnb1	A	G	18: 56,864,091 (GRCm39)	D232G	probably damaging	Het
Loxhd1	T	C	18: 77,501,855 (GRCm39)	F859L	probably damaging	Het
Map7	C	A	10: 20,143,099 (GRCm39)	T416K	unknown	Het
Med18	T	A	4: 132,190,251 (GRCm39)	I45F	probably benign	Het
Mn1	A	T	5: 111,569,636 (GRCm39)	H1202L	possibly damaging	Het
Mpp7	T	C	18: 7,444,062 (GRCm39)	D120G	probably benign	Het
Nlrp1b	A	T	11: 71,072,437 (GRCm39)	F469I	possibly damaging	Het
Nos3	T	A	5: 24,582,929 (GRCm39)	D685E	probably damaging	Het
Nrap	G	A	19: 56,369,984 (GRCm39)	A206V	probably benign	Het
Nuggc	T	C	14: 65,856,542 (GRCm39)		probably null	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Or10ak12	T	A	4: 118,666,500 (GRCm39)	Y187F	probably benign	Het
Or51a25	T	C	7: 102,372,959 (GRCm39)	N246S	probably damaging	Het
Parp3	T	C	9: 106,351,267 (GRCm39)	D278G	probably damaging	Het
Phc3	T	A	3: 30,991,080 (GRCm39)	Q346L	probably damaging	Het
Pigo	A	G	4: 43,019,231 (GRCm39)	L1029P	probably damaging	Het
Plcb3	A	G	19: 6,943,803 (GRCm39)	I66T	probably damaging	Het
Plch2	T	C	4: 155,069,255 (GRCm39)	S1019G	probably benign	Het
Plekhg6	C	A	6: 125,350,146 (GRCm39)	C264F	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pou4f2	G	T	8: 79,162,067 (GRCm39)	H179N	possibly damaging	Het
Prpf39	T	C	12: 65,108,231 (GRCm39)		probably benign	Het
Rapgef1	G	A	2: 29,609,662 (GRCm39)	V700I	probably benign	Het
Rdh14	A	G	12: 10,444,703 (GRCm39)	I185V	probably benign	Het
Rnf111	A	T	9: 70,349,607 (GRCm39)	H785Q	probably damaging	Het
Rttn	C	T	18: 89,035,399 (GRCm39)	R758W	probably benign	Het
Sik3	G	A	9: 46,113,361 (GRCm39)	V601M	probably damaging	Het
Slc22a14	T	C	9: 119,007,552 (GRCm39)	T286A	probably benign	Het
Slc36a3	G	A	11: 55,026,209 (GRCm39)	T203I	probably benign	Het
Spata31	A	T	13: 65,070,468 (GRCm39)	Q872L	probably benign	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Sphkap	A	T	1: 83,245,215 (GRCm39)		probably null	Het
Stat6	T	C	10: 127,491,248 (GRCm39)	V463A	probably damaging	Het
Stx7	T	C	10: 24,060,947 (GRCm39)	S225P	probably damaging	Het
Sult2a7	A	T	7: 14,207,334 (GRCm39)		probably benign	Het
Tada2a	A	T	11: 83,993,946 (GRCm39)	F179L	probably benign	Het
Tas2r103	A	G	6: 133,013,280 (GRCm39)	L262P	probably benign	Het
Tfap2d	A	G	1: 19,236,187 (GRCm39)	I382V	possibly damaging	Het
Tshr	C	A	12: 91,504,517 (GRCm39)	A485D	probably damaging	Het
Vmn1r32	T	A	6: 66,530,698 (GRCm39)	Y26F	probably damaging	Het
Vmn1r5	A	G	6: 56,962,636 (GRCm39)	T104A	probably damaging	Het
Wbp1l	T	A	19: 46,642,396 (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
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

Predicted Primers

PCR Primer
(F):5'- ATGCACACTAATGTACCTTCTACTC -3'
(R):5'- AGAGTCAGCATAGTGCCCATC -3'

Sequencing Primer
(F):5'- ACTCTCTTGAAGCAAGCCTG -3'
(R):5'- TAGTGCCCATCTCCAACAGTG -3'

Posted On

2015-04-29