Incidental Mutation 'IGL02602:Cybrd1'
ID300114
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cybrd1
Ensembl Gene ENSMUSG00000027015
Gene Namecytochrome b reductase 1
Synonyms2210407P13Rik, Dcytb
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02602
Quality Score
Status
Chromosome2
Chromosomal Location71117923-71142926 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 71118148 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 10 (L10P)
Ref Sequence ENSEMBL: ENSMUSP00000028403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028403]
Predicted Effect probably damaging
Transcript: ENSMUST00000028403
AA Change: L10P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028403
Gene: ENSMUSG00000027015
AA Change: L10P

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf2 A G 11: 94,570,465 probably benign Het
Arhgap20 A T 9: 51,825,843 I148F probably damaging Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Cdk13 A G 13: 17,727,160 F997L probably damaging Het
Cep162 G A 9: 87,246,153 H170Y probably benign Het
Clasp1 T C 1: 118,471,785 F220L probably damaging Het
Clock C A 5: 76,254,426 G129V probably null Het
Clock C T 5: 76,254,427 G129R probably damaging Het
Cyp7a1 A G 4: 6,272,871 I114T possibly damaging Het
Epha7 T A 4: 28,871,877 V402D possibly damaging Het
Fam228a G A 12: 4,732,808 T95I probably benign Het
Gm7589 C T 9: 59,146,158 noncoding transcript Het
Klf4 C A 4: 55,530,595 R172L probably damaging Het
Macf1 A G 4: 123,355,163 S7190P probably damaging Het
Mga A G 2: 119,931,884 T1119A possibly damaging Het
Nmur2 T A 11: 56,027,063 T367S probably benign Het
Ogfr A G 2: 180,595,437 D605G possibly damaging Het
Olfr1314 A G 2: 112,092,561 F47L probably benign Het
Pcdhb1 A T 18: 37,266,796 N600I probably damaging Het
Pkhd1l1 T C 15: 44,557,931 S3032P probably damaging Het
Ppp2r5e A G 12: 75,493,439 L144P probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Ryr2 T C 13: 11,554,511 probably benign Het
Scarb2 A G 5: 92,448,556 Y410H probably benign Het
Slc12a1 A G 2: 125,154,242 Y105C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stt3b A T 9: 115,276,778 S210T probably damaging Het
Sulf2 T C 2: 166,081,300 H635R probably benign Het
Tmem167 C A 13: 90,104,380 R52S probably damaging Het
Tsga13 G A 6: 30,902,277 T167I possibly damaging Het
Txk T C 5: 72,707,720 R271G possibly damaging Het
Vmn1r191 T C 13: 22,179,465 K40E probably damaging Het
Vmn1r69 T A 7: 10,579,974 N277Y probably benign Het
Other mutations in Cybrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Cybrd1 APN 2 71129706 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
Posted On2015-04-16