Incidental Mutation 'R5835:Cyb5d2'
ID 449554
Institutional Source Beutler Lab
Gene Symbol Cyb5d2
Ensembl Gene ENSMUSG00000057778
Gene Name cytochrome b5 domain containing 2
Synonyms 9330151E16Rik, neuferricin
MMRRC Submission 044056-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5835 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 72668058-72686665 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72680036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 86 (D86E)
Ref Sequence ENSEMBL: ENSMUSP00000078623 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079681] [ENSMUST00000156294]
AlphaFold Q5SSH8
Predicted Effect probably damaging
Transcript: ENSMUST00000079681
AA Change: D86E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078623
Gene: ENSMUSG00000057778
AA Change: D86E

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Cyt-b5 38 134 5.75e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141141
Predicted Effect probably benign
Transcript: ENSMUST00000156294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169476
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
A2m A G 6: 121,616,295 (GRCm39) K141R probably damaging Het
Ablim3 T C 18: 61,956,993 (GRCm39) E278G probably damaging Het
Adam28 A G 14: 68,893,130 (GRCm39) W4R possibly damaging Het
Ahnak2 T C 12: 112,742,230 (GRCm39) N614S possibly damaging Het
Arfgef1 A G 1: 10,230,964 (GRCm39) S1182P probably damaging Het
Asb8 A T 15: 98,034,263 (GRCm39) D97E probably damaging Het
AU041133 T A 10: 81,987,046 (GRCm39) L232H probably damaging Het
Bmp2k T G 5: 97,204,841 (GRCm39) V392G possibly damaging Het
Capn12 C A 7: 28,581,383 (GRCm39) H79N probably benign Het
Casp2 C A 6: 42,244,520 (GRCm39) S54R possibly damaging Het
Ccdc18 T C 5: 108,288,740 (GRCm39) S163P possibly damaging Het
Ccdc92b A G 11: 74,528,838 (GRCm39) E114G probably benign Het
Cd209c C A 8: 3,995,699 (GRCm39) M34I probably benign Het
Ceacam18 A T 7: 43,286,382 (GRCm39) H85L probably benign Het
Cndp1 C A 18: 84,630,958 (GRCm39) A434S probably benign Het
Crybg1 T A 10: 43,851,129 (GRCm39) T1581S probably benign Het
Duox1 T G 2: 122,158,341 (GRCm39) V608G probably benign Het
Exosc10 A G 4: 148,649,844 (GRCm39) R425G probably damaging Het
Fat3 A T 9: 16,287,129 (GRCm39) I798N probably damaging Het
Habp2 T A 19: 56,295,218 (GRCm39) D36E probably benign Het
Herpud1 T C 8: 95,118,867 (GRCm39) V207A probably damaging Het
Htt A G 5: 34,970,534 (GRCm39) I561V probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Igkv18-36 A G 6: 69,969,512 (GRCm39) I93T probably damaging Het
Kalrn T G 16: 33,807,461 (GRCm39) E2636A probably benign Het
Kif27 A G 13: 58,460,960 (GRCm39) probably null Het
Mep1a G A 17: 43,789,055 (GRCm39) H574Y probably benign Het
Myh6 T C 14: 55,187,864 (GRCm39) K1197E probably damaging Het
Obscn T C 11: 58,892,907 (GRCm39) T6780A probably benign Het
Obscn C T 11: 58,932,953 (GRCm39) V4808M probably damaging Het
Or6c210 A G 10: 129,495,803 (GRCm39) I43V probably benign Het
Pkhd1 T C 1: 20,271,307 (GRCm39) D3082G probably benign Het
Plch1 T C 3: 63,604,943 (GRCm39) M1645V probably benign Het
Ppip5k1 A G 2: 121,168,380 (GRCm39) V674A probably benign Het
Prrc2b T A 2: 32,096,485 (GRCm39) S619T probably benign Het
Rab44 A T 17: 29,367,212 (GRCm39) H714L probably benign Het
Rybp A G 6: 100,210,151 (GRCm39) Y70H possibly damaging Het
Sfrp1 A G 8: 23,936,260 (GRCm39) K234R possibly damaging Het
Slc1a2 A G 2: 102,607,795 (GRCm39) N481S probably damaging Het
Slc44a3 T G 3: 121,320,849 (GRCm39) I51L probably benign Het
Slitrk1 A G 14: 109,149,004 (GRCm39) F569S possibly damaging Het
Smurf2 A T 11: 106,726,974 (GRCm39) N451K probably damaging Het
Sptbn2 T A 19: 4,788,247 (GRCm39) D1075E probably damaging Het
Syngap1 A T 17: 27,177,192 (GRCm39) H65L probably benign Het
Tdrd12 T C 7: 35,228,689 (GRCm39) D11G probably damaging Het
Tex2 C T 11: 106,410,739 (GRCm39) A926T unknown Het
Tm7sf2 A G 19: 6,113,914 (GRCm39) F209S probably damaging Het
Trbv12-2 G A 6: 41,095,774 (GRCm39) probably benign Het
Virma T A 4: 11,514,036 (GRCm39) L630H probably damaging Het
Vmn1r68 A G 7: 10,261,747 (GRCm39) I117T possibly damaging Het
Zan C A 5: 137,454,917 (GRCm39) R1373L unknown 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
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
R8774-TAIL: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 PCR Primer
(F):5'- CAACTGAAATCCATGGCAACG -3'
(R):5'- AATGAAGAATGGCCCATTTATTGG -3'

Sequencing Primer
(F):5'- CAACGGGTGAGGACTACATACC -3'
(R):5'- AGGAATGCTCAAGTGTAGCTCTCC -3'
Posted On 2016-12-20