Incidental Mutation 'R8774-TAIL:Cyb5d2'
ID 667982
Institutional Source Beutler Lab
Gene Symbol Cyb5d2
Ensembl Gene ENSMUSG00000057778
Gene Name cytochrome b5 domain containing 2
Synonyms 9330151E16Rik, neuferricin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8774-TAIL
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 72668058-72686665 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 72679901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000078623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079681] [ENSMUST00000079681] [ENSMUST00000156294]
AlphaFold Q5SSH8
Predicted Effect probably null
Transcript: ENSMUST00000079681
SMART Domains Protein: ENSMUSP00000078623
Gene: ENSMUSG00000057778

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Cyt-b5 38 134 5.75e-20 SMART
Predicted Effect probably null
Transcript: ENSMUST00000079681
SMART Domains Protein: ENSMUSP00000078623
Gene: ENSMUSG00000057778

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Cyt-b5 38 134 5.75e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156294
Meta Mutation Damage Score 0.9496 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,090,358 (GRCm39) S364P possibly damaging Het
Abcc2 T A 19: 43,787,577 (GRCm39) Y208N probably damaging Het
Acy1 A T 9: 106,313,913 (GRCm39) D82E probably damaging Het
Ankub1 A G 3: 57,597,802 (GRCm39) L56P probably damaging Het
Aoc1 T A 6: 48,885,529 (GRCm39) F678Y probably damaging Het
Asxl3 C A 18: 22,657,101 (GRCm39) Q1704K probably damaging Het
Atg9b T C 5: 24,595,571 (GRCm39) D236G probably damaging Het
Auh A T 13: 52,993,631 (GRCm39) M261K probably benign Het
Blm TCC TCCGCC 7: 80,162,655 (GRCm39) probably benign Het
Blm TCC TCCGCC 7: 80,162,667 (GRCm39) probably benign Het
Blm CTC CTCATC 7: 80,162,666 (GRCm39) probably benign Het
C2cd6 A T 1: 59,099,825 (GRCm39) M372K possibly damaging Het
Ccdc88b A T 19: 6,825,090 (GRCm39) N1287K probably damaging Het
Cebpz A G 17: 79,229,073 (GRCm39) S958P probably benign Het
Cgn T A 3: 94,680,810 (GRCm39) Q576L probably damaging Het
Chd7 T A 4: 8,854,692 (GRCm39) M2011K probably damaging Het
Cntnap4 A G 8: 113,529,820 (GRCm39) E676G probably benign Het
Cspp1 A T 1: 10,183,139 (GRCm39) E781D possibly damaging Het
Epn3 G T 11: 94,383,220 (GRCm39) P335T possibly damaging Het
Far2 T A 6: 148,047,629 (GRCm39) S103T probably benign Het
Fhip1a G C 3: 85,580,097 (GRCm39) Q703E probably benign Het
Fhl2 A G 1: 43,162,751 (GRCm39) S255P probably damaging Het
Fmnl2 T A 2: 52,932,321 (GRCm39) V100D Het
Gabbr1 T C 17: 37,382,749 (GRCm39) L814P probably damaging Het
Gzmg C T 14: 56,394,193 (GRCm39) V234I probably benign Het
Ift172 A G 5: 31,415,207 (GRCm39) V1334A probably benign Het
Itga8 C G 2: 12,187,495 (GRCm39) G728A probably damaging Het
Klrg1 T C 6: 122,255,193 (GRCm39) T80A probably benign Het
Lrp4 A G 2: 91,308,043 (GRCm39) N496S probably benign Het
Lsmem1 G T 12: 40,227,145 (GRCm39) N113K probably damaging Het
Map3k2 G A 18: 32,345,117 (GRCm39) S314N probably damaging Het
Mtpap C T 18: 4,387,032 (GRCm39) R361* probably null Het
Muc5b T A 7: 141,418,831 (GRCm39) S3926T probably benign Het
Nat10 C A 2: 103,561,752 (GRCm39) R643L probably damaging Het
Ncbp3 T C 11: 72,938,808 (GRCm39) V28A probably benign Het
Nlrp9a T C 7: 26,257,984 (GRCm39) L534P possibly damaging Het
Nmi T C 2: 51,848,974 (GRCm39) K39E probably benign Het
Nxpe4 A G 9: 48,304,692 (GRCm39) N260D probably benign Het
Or4k38 T C 2: 111,166,318 (GRCm39) Y35C probably damaging Het
Or51aa2 C A 7: 103,187,965 (GRCm39) V159L probably benign Het
Or6c213 T A 10: 129,573,926 (GRCm39) I287F probably damaging Het
Or8c19-ps1 G A 9: 38,220,600 (GRCm39) A170T unknown Het
Pirb G T 7: 3,720,728 (GRCm39) L257M probably damaging Het
Plcg2 A T 8: 118,306,585 (GRCm39) D313V possibly damaging Het
Ppard G A 17: 28,517,864 (GRCm39) V311I possibly damaging Het
Ptcd1 A T 5: 145,092,175 (GRCm39) M308K probably damaging Het
Pygo1 A G 9: 72,852,436 (GRCm39) N208D possibly damaging Het
Robo1 T G 16: 72,832,719 (GRCm39) D1497E probably benign Het
Sdk2 T C 11: 113,730,169 (GRCm39) D1022G probably damaging Het
Shc3 G A 13: 51,615,475 (GRCm39) H161Y probably damaging Het
Slc15a1 G T 14: 121,724,423 (GRCm39) Q150K probably damaging Het
Sod1 T G 16: 90,023,039 (GRCm39) V120G probably damaging Het
Spata31g1 T C 4: 42,971,087 (GRCm39) L140P probably damaging Het
Sprr2f T A 3: 92,273,323 (GRCm39) C41S unknown Het
Svil A T 18: 5,049,068 (GRCm39) Y115F probably damaging Het
Tdp1 T C 12: 99,877,917 (GRCm39) S400P probably damaging Het
Thbs4 A T 13: 92,898,030 (GRCm39) D596E probably damaging Het
Tshz1 T A 18: 84,033,101 (GRCm39) M436L possibly damaging Het
Ube3c C T 5: 29,812,029 (GRCm39) T423I probably benign Het
Unc93a A T 17: 13,341,837 (GRCm39) I98N probably damaging Het
Usp33 T A 3: 152,085,213 (GRCm39) Y624* probably null Het
Vmn1r217 T A 13: 23,298,108 (GRCm39) M265L probably benign Het
Vmn1r222 A T 13: 23,416,418 (GRCm39) M265K probably benign Het
Vmn2r16 C T 5: 109,488,231 (GRCm39) T368M probably benign Het
Zfp867 A G 11: 59,354,837 (GRCm39) F164S probably damaging Het
Zswim1 C T 2: 164,668,062 (GRCm39) T438I probably benign Het
Other mutations in Cyb5d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3831:Cyb5d2 UTSW 11 72,686,349 (GRCm39) missense possibly damaging 0.82
R3832:Cyb5d2 UTSW 11 72,686,349 (GRCm39) missense possibly damaging 0.82
R3833:Cyb5d2 UTSW 11 72,686,349 (GRCm39) missense possibly damaging 0.82
R4063:Cyb5d2 UTSW 11 72,686,606 (GRCm39) unclassified probably benign
R4661:Cyb5d2 UTSW 11 72,669,771 (GRCm39) missense probably damaging 1.00
R5045:Cyb5d2 UTSW 11 72,686,401 (GRCm39) missense probably damaging 1.00
R5835:Cyb5d2 UTSW 11 72,680,036 (GRCm39) missense probably damaging 1.00
R6453:Cyb5d2 UTSW 11 72,673,586 (GRCm39) missense probably benign 0.29
R7743:Cyb5d2 UTSW 11 72,669,702 (GRCm39) missense probably damaging 1.00
R8297:Cyb5d2 UTSW 11 72,679,929 (GRCm39) missense probably damaging 1.00
R8325:Cyb5d2 UTSW 11 72,669,651 (GRCm39) missense possibly damaging 0.89
R8406:Cyb5d2 UTSW 11 72,679,959 (GRCm39) missense probably benign 0.38
R8774:Cyb5d2 UTSW 11 72,679,901 (GRCm39) critical splice donor site probably null
R8797:Cyb5d2 UTSW 11 72,669,662 (GRCm39) missense probably benign 0.01
R9057:Cyb5d2 UTSW 11 72,679,924 (GRCm39) missense probably benign 0.13
R9479:Cyb5d2 UTSW 11 72,669,702 (GRCm39) missense
Predicted Primers
Posted On 2021-03-08