Mutagenetix > Incidental Mutation

Incidental Mutation 'R4793:Cybb'

368816

Institutional Source

Beutler Lab

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 #

R4793 (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: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

100% (91/91)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,082,544 (GRCm39)	E1143V	probably benign	Het
Abi2	T	A	1: 60,448,963 (GRCm39)	M1K	probably null	Het
Acp2	T	C	2: 91,037,134 (GRCm39)	F205L	probably benign	Het
Adam17	T	C	12: 21,397,396 (GRCm39)	N219D	probably benign	Het
Aldh2	T	C	5: 121,707,042 (GRCm39)	S168G	probably damaging	Het
Arhgap15	A	T	2: 44,032,353 (GRCm39)	E312D	probably damaging	Het
Calm5	T	C	13: 3,904,401 (GRCm39)	S32P	probably benign	Het
Capn12	G	A	7: 28,592,094 (GRCm39)	D671N	probably benign	Het
Ccdc73	A	G	2: 104,848,127 (GRCm39)		probably null	Het
Cdc20	T	A	4: 118,294,261 (GRCm39)	I20F	probably benign	Het
Cdh23	A	T	10: 60,167,129 (GRCm39)	I1841N	probably damaging	Het
Cftr	T	C	6: 18,226,087 (GRCm39)	V345A	probably damaging	Het
Col15a1	T	C	4: 47,262,997 (GRCm39)	S550P	possibly damaging	Het
Col4a4	A	G	1: 82,516,820 (GRCm39)	Y133H	unknown	Het
Csmd1	A	G	8: 16,138,277 (GRCm39)	S1592P	probably damaging	Het
Cts6	T	A	13: 61,349,626 (GRCm39)	M56L	probably benign	Het
Dock5	A	G	14: 68,037,803 (GRCm39)	S947P	probably benign	Het
Dpysl2	G	T	14: 67,052,498 (GRCm39)	A339D	possibly damaging	Het
Ebf2	A	G	14: 67,647,531 (GRCm39)	D360G	probably damaging	Het
Ensa	T	C	3: 95,532,489 (GRCm39)		probably null	Het
Fap	C	A	2: 62,374,713 (GRCm39)	V229F	probably damaging	Het
Fbn1	C	A	2: 125,163,155 (GRCm39)	G2116*	probably null	Het
Frmd4b	A	T	6: 97,272,822 (GRCm39)	S857T	probably damaging	Het
Fsip2	T	A	2: 82,818,044 (GRCm39)	Y4592*	probably null	Het
Fubp1	T	A	3: 151,928,966 (GRCm39)	Y135N	possibly damaging	Het
Gdap2	T	C	3: 100,078,234 (GRCm39)	L66P	probably damaging	Het
Gm10257	T	C	13: 101,083,305 (GRCm39)		noncoding transcript	Het
Gm1758	A	T	16: 14,325,036 (GRCm39)		noncoding transcript	Het
Gna13	T	C	11: 109,254,455 (GRCm39)		probably benign	Het
H2bc13	T	C	13: 21,900,088 (GRCm39)	S76G	probably benign	Het
Heatr1	T	C	13: 12,446,718 (GRCm39)	I1689T	probably benign	Het
Hephl1	A	G	9: 15,009,286 (GRCm39)	I102T	probably benign	Het
Hltf	T	G	3: 20,118,114 (GRCm39)	Y121D	possibly damaging	Het
Hspg2	T	C	4: 137,256,784 (GRCm39)	V1509A	possibly damaging	Het
Ifitm5	G	T	7: 140,530,077 (GRCm39)	R16S	probably benign	Het
Il1rap	A	C	16: 26,513,984 (GRCm39)	D239A	probably benign	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kcna6	T	C	6: 126,715,519 (GRCm39)	I457V	probably damaging	Het
Kctd17	T	A	15: 78,317,224 (GRCm39)	L47Q	probably damaging	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrrc63	A	G	14: 75,363,601 (GRCm39)	S177P	possibly damaging	Het
Lrriq1	T	C	10: 103,006,327 (GRCm39)	D1266G	probably benign	Het
Map3k2	G	T	18: 32,361,203 (GRCm39)	M554I	probably damaging	Het
Mst1r	T	A	9: 107,797,124 (GRCm39)	V1331E	probably damaging	Het
Musk	T	C	4: 58,373,400 (GRCm39)	I775T	probably damaging	Het
Mybl2	A	G	2: 162,916,683 (GRCm39)	K7E	probably damaging	Het
Nf1	T	C	11: 79,338,398 (GRCm39)	S1137P	probably damaging	Het
Nlrp5	A	G	7: 23,117,055 (GRCm39)	I260V	probably damaging	Het
Or13c7	A	T	4: 43,854,323 (GRCm39)	N5Y	probably benign	Het
Or9g4	A	C	2: 85,504,842 (GRCm39)	Y218D	probably damaging	Het
Or9s23	G	T	1: 92,501,207 (GRCm39)	A105S	possibly damaging	Het
Pabpc1l	C	T	2: 163,869,542 (GRCm39)	A114V	possibly damaging	Het
Plac8l1	T	A	18: 42,311,973 (GRCm39)	I149F	possibly damaging	Het
Pou6f1	T	A	15: 100,476,293 (GRCm39)	N531I	probably damaging	Het
Prdm10	A	G	9: 31,264,701 (GRCm39)	Y712C	probably damaging	Het
Ptbp3	T	C	4: 59,514,297 (GRCm39)	T43A	possibly damaging	Het
Ptpn13	T	C	5: 103,730,644 (GRCm39)		probably null	Het
Rnf135	T	C	11: 80,087,775 (GRCm39)		probably null	Het
Rusf1	A	T	7: 127,887,374 (GRCm39)		probably benign	Het
Serpinb3d	A	G	1: 107,005,951 (GRCm39)	L379P	probably damaging	Het
Sh2d6	T	A	6: 72,494,581 (GRCm39)	T124S	probably benign	Het
Slc26a5	G	A	5: 22,042,992 (GRCm39)	P153S	probably damaging	Het
Slc5a7	A	G	17: 54,588,822 (GRCm39)	F275S	possibly damaging	Het
Snx14	A	G	9: 88,276,495 (GRCm39)	S606P	probably damaging	Het
Sphkap	A	T	1: 83,255,805 (GRCm39)	I648K	possibly damaging	Het
Spon2	T	C	5: 33,371,904 (GRCm39)	T301A	probably damaging	Het
Srpra	C	T	9: 35,124,447 (GRCm39)	T48I	probably benign	Het
Taar9	G	A	10: 23,985,408 (GRCm39)	P9S	probably benign	Het
Tacc1	A	T	8: 25,672,405 (GRCm39)	S274R	possibly damaging	Het
Tc2n	A	G	12: 101,617,376 (GRCm39)	S348P	possibly damaging	Het
Timd2	G	T	11: 46,578,008 (GRCm39)	T41K	probably damaging	Het
Tmem132a	T	A	19: 10,842,857 (GRCm39)	E206V	probably damaging	Het
Tmt1a3	A	G	15: 100,232,889 (GRCm39)	M27V	probably benign	Het
Tpi1	A	T	6: 124,789,544 (GRCm39)		probably benign	Het
Traf5	T	G	1: 191,729,765 (GRCm39)	T429P	probably benign	Het
Trav4-3	A	G	14: 53,836,615 (GRCm39)	S27G	possibly damaging	Het
Tubd1	T	C	11: 86,457,895 (GRCm39)	M462T	probably benign	Het
Ube4a	T	C	9: 44,860,120 (GRCm39)	D314G	probably damaging	Het
Utp25	T	A	1: 192,796,116 (GRCm39)	Q50L	probably null	Het
Vmn2r58	G	T	7: 41,514,495 (GRCm39)	T158K	probably damaging	Het
Vmn2r68	C	A	7: 84,883,648 (GRCm39)	M152I	probably benign	Het
Vmn2r91	A	G	17: 18,325,658 (GRCm39)	E92G	probably damaging	Het
Wdr20rt	T	C	12: 65,273,395 (GRCm39)	V113A	probably damaging	Het
Zfp729a	T	C	13: 67,768,546 (GRCm39)	H561R	probably damaging	Het
Zfp804a	T	A	2: 82,066,186 (GRCm39)	D52E	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
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'- TCCCACATGTCCTGGTTTGG -3'
(R):5'- GGGCTCACATGAAGATATTTGCG -3'

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

Posted On

2016-02-04