Incidental Mutation 'R9195:Cybrd1'
ID 697892
Institutional Source Beutler Lab
Gene Symbol Cybrd1
Ensembl Gene ENSMUSG00000027015
Gene Name cytochrome b reductase 1
Synonyms 2210407P13Rik, Dcytb
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9195 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 71117923-71142926 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 71138398 bp (GRCm38)
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
9930021J03Rik A G 19: 29,786,303 I124T Het
Acot10 G C 15: 20,665,431 T408R probably damaging Het
Ak9 A G 10: 41,407,483 Y1310C Het
Atp6v1c1 T A 15: 38,673,954 F64I probably damaging Het
Bahcc1 A G 11: 120,276,511 E1246G probably benign Het
Brca2 T A 5: 150,539,953 S1061T possibly damaging Het
Cep83 A G 10: 94,768,939 R505G possibly damaging Het
Clasp2 A G 9: 113,841,977 E382G probably benign Het
Cnksr3 A T 10: 7,138,379 H235Q probably damaging Het
Ctsh A T 9: 90,062,762 H90L probably benign Het
Cyfip2 A T 11: 46,270,628 I345N probably damaging Het
Ech1 T C 7: 28,826,021 L67P probably damaging Het
Ect2l T C 10: 18,143,088 N612S probably benign Het
Gm8186 T A 17: 26,099,118 D35V probably damaging Het
Ighv1-15 T C 12: 114,657,519 H62R probably benign Het
Kcns1 A T 2: 164,167,858 L327Q probably damaging Het
Lbr T C 1: 181,836,272 K61R probably benign Het
Mrpl36 G A 13: 73,331,379 A3T unknown Het
Nectin3 G A 16: 46,458,896 R240* probably null Het
Nek10 T C 14: 14,821,139 L35P probably benign Het
Nr1d1 A G 11: 98,769,057 V547A possibly damaging Het
Obscn A T 11: 59,051,214 I4445N probably damaging Het
Olfr641 T C 7: 104,040,138 I114T probably damaging Het
Pcdhgb1 T G 18: 37,681,104 V216G probably damaging Het
Pklr T C 3: 89,141,329 S100P probably damaging Het
R3hdm1 T A 1: 128,162,238 S70T probably benign Het
Rec114 T G 9: 58,660,251 T151P probably benign Het
Riok3 TTTCATT TTT 18: 12,149,585 probably null Het
Slc33a1 A G 3: 63,963,767 S142P probably damaging Het
Slc4a4 T A 5: 89,133,196 N407K possibly damaging Het
Slc5a4b A G 10: 76,062,315 C522R probably damaging Het
Tcim A T 8: 24,438,862 M12K probably damaging Het
Tenm4 T A 7: 96,892,919 Y1917N probably damaging Het
Ttll1 A G 15: 83,489,578 Y345H probably benign Het
Urb1 A G 16: 90,792,750 V381A probably benign Het
Wnt16 T C 6: 22,297,933 M266T probably benign Het
Zfyve26 T C 12: 79,264,394 I1562V probably benign Het
Other mutations in Cybrd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01303:Cybrd1 APN 2 71129706 missense probably damaging 1.00
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
R9281:Cybrd1 UTSW 2 71138391 missense probably benign 0.03
R9414:Cybrd1 UTSW 2 71118223 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