Incidental Mutation 'R9195:Cybrd1'
ID 697892
Institutional Source Beutler Lab
Gene Symbol Cybrd1
Ensembl Gene ENSMUSG00000027015
Gene Name cytochrome b reductase 1
Synonyms Dcytb, 2210407P13Rik
MMRRC Submission 068954-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9195 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 70948398-70973270 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 70968742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 205 (G205D)
Ref Sequence ENSEMBL: ENSMUSP00000028403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028403]
AlphaFold Q925G2
Predicted Effect probably damaging
Transcript: ENSMUST00000028403
AA Change: G205D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028403
Gene: ENSMUSG00000027015
AA Change: G205D

DomainStartEndE-ValueType
B561 49 178 5.7e-47 SMART
low complexity region 259 274 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (39/39)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot10 G C 15: 20,665,517 (GRCm39) T408R probably damaging Het
Ak9 A G 10: 41,283,479 (GRCm39) Y1310C Het
Atp6v1c1 T A 15: 38,674,198 (GRCm39) F64I probably damaging Het
Bahcc1 A G 11: 120,167,337 (GRCm39) E1246G probably benign Het
Brca2 T A 5: 150,463,418 (GRCm39) S1061T possibly damaging Het
Brd10 A G 19: 29,763,703 (GRCm39) I124T Het
Cep83 A G 10: 94,604,801 (GRCm39) R505G possibly damaging Het
Clasp2 A G 9: 113,671,045 (GRCm39) E382G probably benign Het
Cnksr3 A T 10: 7,088,379 (GRCm39) H235Q probably damaging Het
Ctsh A T 9: 89,944,815 (GRCm39) H90L probably benign Het
Cyfip2 A T 11: 46,161,455 (GRCm39) I345N probably damaging Het
Ech1 T C 7: 28,525,446 (GRCm39) L67P probably damaging Het
Ect2l T C 10: 18,018,836 (GRCm39) N612S probably benign Het
Gm8186 T A 17: 26,318,092 (GRCm39) D35V probably damaging Het
Ighv1-15 T C 12: 114,621,139 (GRCm39) H62R probably benign Het
Kcns1 A T 2: 164,009,778 (GRCm39) L327Q probably damaging Het
Lbr T C 1: 181,663,837 (GRCm39) K61R probably benign Het
Mrpl36 G A 13: 73,479,498 (GRCm39) A3T unknown Het
Nectin3 G A 16: 46,279,259 (GRCm39) R240* probably null Het
Nek10 T C 14: 14,821,139 (GRCm38) L35P probably benign Het
Nr1d1 A G 11: 98,659,883 (GRCm39) V547A possibly damaging Het
Obscn A T 11: 58,942,040 (GRCm39) I4445N probably damaging Het
Or51i2 T C 7: 103,689,345 (GRCm39) I114T probably damaging Het
Pcdhgb1 T G 18: 37,814,157 (GRCm39) V216G probably damaging Het
Pklr T C 3: 89,048,636 (GRCm39) S100P probably damaging Het
R3hdm1 T A 1: 128,089,975 (GRCm39) S70T probably benign Het
Rec114 T G 9: 58,567,534 (GRCm39) T151P probably benign Het
Riok3 TTTCATT TTT 18: 12,282,642 (GRCm39) probably null Het
Slc33a1 A G 3: 63,871,188 (GRCm39) S142P probably damaging Het
Slc4a4 T A 5: 89,281,055 (GRCm39) N407K possibly damaging Het
Slc5a4b A G 10: 75,898,149 (GRCm39) C522R probably damaging Het
Tcim A T 8: 24,928,878 (GRCm39) M12K probably damaging Het
Tenm4 T A 7: 96,542,126 (GRCm39) Y1917N probably damaging Het
Ttll1 A G 15: 83,373,779 (GRCm39) Y345H probably benign Het
Urb1 A G 16: 90,589,638 (GRCm39) V381A probably benign Het
Wnt16 T C 6: 22,297,932 (GRCm39) M266T probably benign Het
Zfyve26 T C 12: 79,311,168 (GRCm39) I1562V 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
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
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'- TCAATGCTACGCTTTAAGGACG -3'
(R):5'- TTCACATGGTGGACCTCTGG -3'

Sequencing Primer
(F):5'- AGGACGTTTACCTTGAAGCTC -3'
(R):5'- TCTGGCCAGAGTCAGCAAG -3'
Posted On 2022-02-07