Incidental Mutation 'R3407:Cybrd1'
ID 258297
Institutional Source Beutler Lab
Gene Symbol Cybrd1
Ensembl Gene ENSMUSG00000027015
Gene Name cytochrome b reductase 1
Synonyms Dcytb, 2210407P13Rik
MMRRC Submission 040625-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3407 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 70948398-70973270 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70948470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 3 (M3L)
Ref Sequence ENSEMBL: ENSMUSP00000028403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028403]
AlphaFold Q925G2
Predicted Effect probably damaging
Transcript: ENSMUST00000028403
AA Change: M3L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028403
Gene: ENSMUSG00000027015
AA Change: M3L

DomainStartEndE-ValueType
B561 49 178 5.7e-47 SMART
low complexity region 259 274 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.3%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg4 A T X: 56,013,487 (GRCm39) I2838F probably damaging Het
Agbl2 G A 2: 90,621,962 (GRCm39) V150I probably damaging Het
Ambra1 T C 2: 91,740,652 (GRCm39) S924P probably damaging Het
Arfgap3 T C 15: 83,206,808 (GRCm39) D260G probably benign Het
Bag3 AAAGG AAAGGAAGG 7: 128,147,493 (GRCm39) probably null Het
Bag3 TAAAG TAAAGAAAG 7: 128,147,492 (GRCm39) probably null Het
Cacnb3 T C 15: 98,539,068 (GRCm39) V167A probably benign Het
Carm1 C T 9: 21,497,478 (GRCm39) R347W probably damaging Het
Ccdc30 A T 4: 119,181,778 (GRCm39) F577I possibly damaging Het
Ces3a T A 8: 105,777,199 (GRCm39) V174E probably damaging Het
Cobl T C 11: 12,325,830 (GRCm39) Y215C probably damaging Het
Dis3 A G 14: 99,336,212 (GRCm39) V98A probably benign Het
Dsg1c G A 18: 20,415,115 (GRCm39) probably null Het
Eif4a1 A T 11: 69,561,089 (GRCm39) V72E probably damaging Het
Fmn1 A T 2: 113,195,400 (GRCm39) I367F unknown Het
Fnbp1l A C 3: 122,345,799 (GRCm39) W229G probably damaging Het
Inka1 C T 9: 107,862,253 (GRCm39) R23Q probably damaging Het
Ints6 A T 14: 62,934,386 (GRCm39) I707K probably benign Het
Ipo8 T C 6: 148,723,207 (GRCm39) D70G probably benign Het
Kif20b T C 19: 34,927,900 (GRCm39) L1014P probably damaging Het
Kif9 T C 9: 110,348,208 (GRCm39) L677P probably damaging Het
Mbd1 A G 18: 74,410,438 (GRCm39) K414E possibly damaging Het
Mfsd1 T A 3: 67,504,046 (GRCm39) M346K possibly damaging Het
Mthfr T C 4: 148,139,518 (GRCm39) I66T probably damaging Het
Myh10 T G 11: 68,681,037 (GRCm39) L989R possibly damaging Het
Ncan G A 8: 70,564,801 (GRCm39) T271I probably damaging Het
Or10ag53 A C 2: 87,083,243 (GRCm39) T321P probably benign Het
Or9s23 A G 1: 92,501,675 (GRCm39) T261A probably damaging Het
Pate2 C T 9: 35,582,262 (GRCm39) T80I probably damaging Het
Pcdhb15 A G 18: 37,607,442 (GRCm39) T225A possibly damaging Het
Pde4dip C A 3: 97,661,784 (GRCm39) L640F probably damaging Het
Plch1 A G 3: 63,606,768 (GRCm39) probably benign Het
Pus3 C T 9: 35,478,021 (GRCm39) R418C probably damaging Het
Sall2 G T 14: 52,565,561 (GRCm39) N24K probably benign Het
Sh3bp4 G T 1: 89,072,769 (GRCm39) C539F possibly damaging Het
Smco3 A G 6: 136,808,425 (GRCm39) S150P probably benign Het
Spag17 G T 3: 99,992,615 (GRCm39) A1704S probably benign Het
Tecta A T 9: 42,249,150 (GRCm39) I1904N probably damaging Het
Ttn T A 2: 76,536,281 (GRCm39) K33280* probably null Het
Uggt2 T C 14: 119,328,682 (GRCm39) D90G probably benign Het
Vmn1r21 C T 6: 57,820,877 (GRCm39) G189D probably damaging Het
Zbtb10 A G 3: 9,329,926 (GRCm39) N428S probably damaging Het
Zfp407 G A 18: 84,576,997 (GRCm39) A1372V probably benign Het
Other mutations in Cybrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Cybrd1 APN 2 70,960,050 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACTCAAGGAGGTTGGATGC -3'
(R):5'- ATGAAGACGAAGCCGGTCAC -3'

Sequencing Primer
(F):5'- CTCAAGGAGGTTGGATGCTTCTTC -3'
(R):5'- AAGCCGGTCACCGCGAG -3'
Posted On 2015-01-23