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 Dcytb, 2210407P13Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01303
Quality Score
Status
Chromosome 2
Chromosomal Location 70948398-70973270 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70960050 bp (GRCm39)
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

DomainStartEndE-ValueType
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
Adamts7 A C 9: 90,053,787 (GRCm39) I111L possibly damaging Het
Ankrd13a A T 5: 114,924,063 (GRCm39) H53L possibly damaging Het
Becn1 T C 11: 101,185,811 (GRCm39) D145G possibly damaging Het
Bod1l A G 5: 41,974,942 (GRCm39) V2124A probably benign Het
Cdcp3 A G 7: 130,796,060 (GRCm39) T72A possibly damaging Het
Celsr1 C T 15: 85,914,692 (GRCm39) A1094T probably damaging Het
Clstn2 A T 9: 97,365,128 (GRCm39) Y459* probably null Het
Cnksr3 A G 10: 7,104,281 (GRCm39) probably null Het
Cux2 A T 5: 122,003,991 (GRCm39) F1048L probably benign Het
Dpp8 A T 9: 64,962,294 (GRCm39) probably benign Het
Eef2 T A 10: 81,017,777 (GRCm39) V813E possibly damaging Het
Eef2 A T 10: 81,017,816 (GRCm39) probably null Het
Etnk1 T G 6: 143,126,392 (GRCm39) I79S probably damaging Het
Fam151a A G 4: 106,604,790 (GRCm39) N384S possibly damaging Het
Fam83c A G 2: 155,676,362 (GRCm39) L136P probably damaging Het
Gfra2 G A 14: 71,133,292 (GRCm39) V41I probably benign Het
Mroh9 A G 1: 162,908,144 (GRCm39) I2T probably benign Het
Muc2 A G 7: 141,306,132 (GRCm39) I274V probably benign Het
Nacad T G 11: 6,548,279 (GRCm39) E1456A possibly damaging Het
Npy4r T A 14: 33,868,614 (GRCm39) I225F possibly damaging Het
Or3a1b T G 11: 74,012,160 (GRCm39) F15C probably damaging Het
Pik3c2a T C 7: 115,973,038 (GRCm39) D719G possibly damaging Het
Pparg G T 6: 115,449,915 (GRCm39) V305L possibly damaging Het
Rictor A G 15: 6,738,119 (GRCm39) N19D probably benign Het
Slc4a1 T C 11: 102,248,790 (GRCm39) T292A probably benign Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Sorl1 A G 9: 41,935,774 (GRCm39) probably benign Het
Tal1 T C 4: 114,925,489 (GRCm39) V186A probably benign Het
Top6bl T C 19: 4,709,510 (GRCm39) T318A possibly damaging Het
Trpm1 T A 7: 63,860,578 (GRCm39) probably benign Het
Tyw5 A T 1: 57,427,712 (GRCm39) Y297* probably null Het
Unc79 C A 12: 103,128,126 (GRCm39) Q2131K possibly damaging Het
Other mutations in Cybrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02602:Cybrd1 APN 2 70,948,492 (GRCm39) missense probably damaging 1.00
FR4976:Cybrd1 UTSW 2 70,968,855 (GRCm39) small deletion probably benign
R0379:Cybrd1 UTSW 2 70,960,099 (GRCm39) missense probably benign 0.23
R1868:Cybrd1 UTSW 2 70,967,978 (GRCm39) missense possibly damaging 0.81
R1872:Cybrd1 UTSW 2 70,960,104 (GRCm39) missense probably benign 0.03
R3407:Cybrd1 UTSW 2 70,948,470 (GRCm39) missense probably damaging 1.00
R5388:Cybrd1 UTSW 2 70,967,989 (GRCm39) critical splice donor site probably null
R6164:Cybrd1 UTSW 2 70,948,618 (GRCm39) missense probably damaging 1.00
R6192:Cybrd1 UTSW 2 70,967,858 (GRCm39) missense probably null 1.00
R7023:Cybrd1 UTSW 2 70,968,922 (GRCm39) missense probably benign 0.01
R7237:Cybrd1 UTSW 2 70,948,553 (GRCm39) small deletion probably benign
R9022:Cybrd1 UTSW 2 70,967,904 (GRCm39) missense possibly damaging 0.49
R9195:Cybrd1 UTSW 2 70,968,742 (GRCm39) missense probably damaging 1.00
R9281:Cybrd1 UTSW 2 70,968,735 (GRCm39) missense probably benign 0.03
R9414:Cybrd1 UTSW 2 70,948,567 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07