Incidental Mutation 'IGL01303:Cybrd1'
ID 73315
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cybrd1
Ensembl Gene ENSMUSG00000027015
Gene Name cytochrome b reductase 1
Synonyms 2210407P13Rik, Dcytb
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01303
Quality Score
Chromosome 2
Chromosomal Location 71117923-71142926 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71129706 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 83 (K83E)
Ref Sequence ENSEMBL: ENSMUSP00000028403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028403]
AlphaFold Q925G2
Predicted Effect probably damaging
Transcript: ENSMUST00000028403
AA Change: K83E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028403
Gene: ENSMUSG00000027015
AA Change: K83E

B561 49 178 5.7e-47 SMART
low complexity region 259 274 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show alterations in liver weight and liver iron content when fed an iron-deficient diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik A G 7: 131,194,331 T72A possibly damaging Het
Adamts7 A C 9: 90,171,734 I111L possibly damaging Het
Ankrd13a A T 5: 114,786,002 H53L possibly damaging Het
Becn1 T C 11: 101,294,985 D145G possibly damaging Het
Bod1l A G 5: 41,817,599 V2124A probably benign Het
Celsr1 C T 15: 86,030,491 A1094T probably damaging Het
Clstn2 A T 9: 97,483,075 Y459* probably null Het
Cnksr3 A G 10: 7,154,281 probably null Het
Cux2 A T 5: 121,865,928 F1048L probably benign Het
Dpp8 A T 9: 65,055,012 probably benign Het
Eef2 T A 10: 81,181,943 V813E possibly damaging Het
Eef2 A T 10: 81,181,982 probably null Het
Etnk1 T G 6: 143,180,666 I79S probably damaging Het
Fam151a A G 4: 106,747,593 N384S possibly damaging Het
Fam83c A G 2: 155,834,442 L136P probably damaging Het
Gfra2 G A 14: 70,895,852 V41I probably benign Het
Gm960 T C 19: 4,659,482 T318A possibly damaging Het
Mroh9 A G 1: 163,080,575 I2T probably benign Het
Muc2 A G 7: 141,752,395 I274V probably benign Het
Nacad T G 11: 6,598,279 E1456A possibly damaging Het
Npy4r T A 14: 34,146,657 I225F possibly damaging Het
Olfr401 T G 11: 74,121,334 F15C probably damaging Het
Pik3c2a T C 7: 116,373,803 D719G possibly damaging Het
Pparg G T 6: 115,472,954 V305L possibly damaging Het
Rictor A G 15: 6,708,638 N19D probably benign Het
Slc4a1 T C 11: 102,357,964 T292A probably benign Het
Slc6a11 C T 6: 114,134,665 T103M probably damaging Het
Sorl1 A G 9: 42,024,478 probably benign Het
Tal1 T C 4: 115,068,292 V186A probably benign Het
Trpm1 T A 7: 64,210,830 probably benign Het
Tyw5 A T 1: 57,388,553 Y297* probably null Het
Unc79 C A 12: 103,161,867 Q2131K possibly damaging Het
Other mutations in Cybrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02602:Cybrd1 APN 2 71118148 missense probably damaging 1.00
FR4976:Cybrd1 UTSW 2 71138511 small deletion probably benign
R0379:Cybrd1 UTSW 2 71129755 missense probably benign 0.23
R1868:Cybrd1 UTSW 2 71137634 missense possibly damaging 0.81
R1872:Cybrd1 UTSW 2 71129760 missense probably benign 0.03
R3407:Cybrd1 UTSW 2 71118126 missense probably damaging 1.00
R5388:Cybrd1 UTSW 2 71137645 critical splice donor site probably null
R6164:Cybrd1 UTSW 2 71118274 missense probably damaging 1.00
R6192:Cybrd1 UTSW 2 71137514 missense probably null 1.00
R7023:Cybrd1 UTSW 2 71138578 missense probably benign 0.01
R7237:Cybrd1 UTSW 2 71118209 small deletion probably benign
R9022:Cybrd1 UTSW 2 71137560 missense possibly damaging 0.49
R9195:Cybrd1 UTSW 2 71138398 missense probably damaging 1.00
R9281:Cybrd1 UTSW 2 71138391 missense probably benign 0.03
R9414:Cybrd1 UTSW 2 71118223 missense probably damaging 1.00
Posted On 2013-10-07