Incidental Mutation 'R6057:Cybb'
ID 483024
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 # R6057 (G1)
Quality Score 221.999
Status Not validated
Chromosome X
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
transmembrane domain 10 29 N/A INTRINSIC
transmembrane domain 50 72 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik A G 6: 52,156,500 (GRCm39) probably benign Het
Acan A G 7: 78,749,530 (GRCm39) S11G probably null Het
Ankrd13d A C 19: 4,332,256 (GRCm39) V56G probably damaging Het
Arl15 A G 13: 114,104,151 (GRCm39) Y76C probably damaging Het
Aspg G A 12: 112,087,432 (GRCm39) C296Y probably damaging Het
Astl T A 2: 127,187,889 (GRCm39) D101E probably benign Het
Bmpr2 A G 1: 59,881,977 (GRCm39) N202S probably benign Het
Borcs7 T C 19: 46,690,003 (GRCm39) *106Q probably null Het
Brip1 A G 11: 85,955,865 (GRCm39) S883P possibly damaging Het
Cacng2 A T 15: 78,002,991 (GRCm39) L34Q probably damaging Het
Catip A C 1: 74,402,077 (GRCm39) D84A probably damaging Het
Ccdc162 A G 10: 41,510,037 (GRCm39) L856S possibly damaging Het
Ccdc38 A G 10: 93,417,608 (GRCm39) K500E probably damaging Het
Ccser2 T C 14: 36,663,122 (GRCm39) K21E probably damaging Het
Cd93 A T 2: 148,283,439 (GRCm39) Y636N probably damaging Het
Cep128 A T 12: 91,262,998 (GRCm39) N300K possibly damaging Het
Cfap44 A G 16: 44,269,460 (GRCm39) T1155A probably benign Het
Clec16a T C 16: 10,447,951 (GRCm39) L550P probably damaging Het
Csmd3 T C 15: 47,618,787 (GRCm39) Y1867C probably damaging Het
Cul3 A T 1: 80,249,249 (GRCm39) I674N probably damaging Het
Cyp2d34 T C 15: 82,500,552 (GRCm39) H429R probably benign Het
Dab2ip T A 2: 35,582,267 (GRCm39) C4* probably null Het
Dcaf1 A G 9: 106,731,446 (GRCm39) E641G probably damaging Het
Dda1 T A 8: 71,927,276 (GRCm39) probably benign Het
Dmgdh C T 13: 93,888,960 (GRCm39) T866I probably benign Het
Ect2l T C 10: 18,037,250 (GRCm39) T383A probably benign Het
Ets2 A G 16: 95,515,416 (GRCm39) N181D probably benign Het
Ezh2 A G 6: 47,529,357 (GRCm39) F222L probably damaging Het
Frem3 T C 8: 81,342,216 (GRCm39) L1503P probably damaging Het
Fsip2 C A 2: 82,809,777 (GRCm39) A2032E probably damaging Het
Gm1818 C T 12: 48,602,346 (GRCm39) noncoding transcript Het
Gm9493 A G 19: 23,597,106 (GRCm39) S1G probably damaging Het
Grin2b A G 6: 135,710,942 (GRCm39) I868T possibly damaging Het
Ift22 A T 5: 136,939,987 (GRCm39) T17S possibly damaging Het
Il4ra T C 7: 125,170,735 (GRCm39) W216R probably damaging Het
Kcnj6 A T 16: 94,633,236 (GRCm39) W274R probably damaging Het
Kctd19 G A 8: 106,123,082 (GRCm39) H111Y probably damaging Het
Kremen2 A G 17: 23,961,679 (GRCm39) V276A probably benign Het
Lig1 C A 7: 13,022,598 (GRCm39) Q143K probably damaging Het
Lrp1 A T 10: 127,403,359 (GRCm39) D2071E probably damaging Het
Macf1 C T 4: 123,404,536 (GRCm39) M475I probably damaging Het
Mbtd1 G A 11: 93,820,485 (GRCm39) A427T probably damaging Het
Myof A G 19: 37,915,429 (GRCm39) probably null Het
Nbeal2 T C 9: 110,470,945 (GRCm39) D308G possibly damaging Het
Ncdn T C 4: 126,638,824 (GRCm39) Q665R probably benign Het
Nkd1 T C 8: 89,316,442 (GRCm39) probably null Het
Nktr G A 9: 121,577,455 (GRCm39) probably benign Het
Npc1l1 A T 11: 6,167,806 (GRCm39) M995K possibly damaging Het
Or10ag59 C A 2: 87,406,363 (GRCm39) R312S probably benign Het
Or11g7 A T 14: 50,691,201 (GRCm39) R231* probably null Het
Or14n1-ps1 T A 7: 86,092,397 (GRCm39) C69* probably null Het
Padi4 T C 4: 140,487,351 (GRCm39) T184A probably damaging Het
Pgm2l1 C T 7: 99,915,881 (GRCm39) P409S probably benign Het
Pgpep1 G A 8: 71,105,101 (GRCm39) T53M probably damaging Het
Pgr T C 9: 8,902,006 (GRCm39) L513P probably damaging Het
Pikfyve T A 1: 65,311,730 (GRCm39) I1989N probably damaging Het
Prrc2a T C 17: 35,371,716 (GRCm39) T1806A probably benign Het
Psd T C 19: 46,311,753 (GRCm39) E309G possibly damaging Het
Qtrt1 C T 9: 21,323,299 (GRCm39) T50I probably damaging Het
Rims2 A C 15: 39,538,416 (GRCm39) T1320P probably damaging Het
Scn11a T G 9: 119,594,514 (GRCm39) N1293T probably damaging Het
Scn8a T C 15: 100,872,548 (GRCm39) F529S possibly damaging Het
Sec14l4 A T 11: 3,985,142 (GRCm39) D25V possibly damaging Het
Sema3a C T 5: 13,615,832 (GRCm39) R419C probably damaging Het
Slc12a1 T C 2: 125,032,133 (GRCm39) Y595H probably damaging Het
Slc25a28 A T 19: 43,655,364 (GRCm39) H170Q possibly damaging Het
Slc26a1 T A 5: 108,821,631 (GRCm39) Q86L probably damaging Het
Slc48a1 T A 15: 97,687,798 (GRCm39) W51R probably damaging Het
Sptlc3 T A 2: 139,423,533 (GRCm39) V309D probably damaging Het
Srcap G A 7: 127,140,528 (GRCm39) S1375N probably damaging Het
Tanc1 C A 2: 59,647,837 (GRCm39) H986Q possibly damaging Het
Tbc1d4 A G 14: 101,727,353 (GRCm39) V486A probably damaging Het
Tceanc2 T C 4: 107,004,776 (GRCm39) D124G probably damaging Het
Tdrd9 A G 12: 111,979,720 (GRCm39) M402V possibly damaging Het
Tmem132d T C 5: 127,861,934 (GRCm39) D729G probably damaging Het
Tmem62 T A 2: 120,807,943 (GRCm39) I55N probably damaging Het
Tnfrsf21 A T 17: 43,350,606 (GRCm39) N257Y possibly damaging Het
Trappc3 T C 4: 126,167,834 (GRCm39) L131P probably damaging Het
Vmn2r25 A T 6: 123,799,900 (GRCm39) M814K possibly damaging Het
Vmn2r87 T C 10: 130,308,226 (GRCm39) I671V probably benign Het
Vwa8 A T 14: 79,320,313 (GRCm39) D1108V probably benign Het
Xrcc4 C G 13: 90,139,198 (GRCm39) A241P possibly damaging Het
Xylt1 T A 7: 117,191,135 (GRCm39) D310E probably benign Het
Zfp27 T G 7: 29,594,444 (GRCm39) H507P possibly damaging Het
Zfp341 C T 2: 154,466,954 (GRCm39) P108S probably benign Het
Zfp641 T C 15: 98,190,816 (GRCm39) N76S probably benign Het
Zfp936 T C 7: 42,839,787 (GRCm39) V418A probably benign Het
Other mutations in Cybb
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATGTTTCCCACATGTCCTGG -3'
(R):5'- TTGCGATATGTGCACAATCAG -3'

Posted On 2017-07-14