Incidental Mutation 'IGL02666:Cyb5r3'
ID 302726
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyb5r3
Ensembl Gene ENSMUSG00000018042
Gene Name cytochrome b5 reductase 3
Synonyms Dia1, Dia-1, 0610016L08Rik, 2500002N19Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02666
Quality Score
Status
Chromosome 15
Chromosomal Location 83037695-83056793 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83044554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 155 (I155V)
Ref Sequence ENSEMBL: ENSMUSP00000125636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018186] [ENSMUST00000162178] [ENSMUST00000162834]
AlphaFold Q9DCN2
Predicted Effect possibly damaging
Transcript: ENSMUST00000018186
AA Change: I178V

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000018186
Gene: ENSMUSG00000018042
AA Change: I178V

DomainStartEndE-ValueType
Pfam:FAD_binding_6 44 151 7.1e-35 PFAM
Pfam:NAD_binding_6 172 262 3.2e-7 PFAM
Pfam:NAD_binding_1 177 285 1.1e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162178
AA Change: I155V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000125636
Gene: ENSMUSG00000018042
AA Change: I155V

DomainStartEndE-ValueType
Pfam:FAD_binding_6 21 128 6.3e-38 PFAM
Pfam:NAD_binding_6 149 240 5.9e-8 PFAM
Pfam:NAD_binding_1 154 242 4.5e-24 PFAM
low complexity region 290 303 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000162834
AA Change: I155V

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124062
Gene: ENSMUSG00000018042
AA Change: I155V

DomainStartEndE-ValueType
Pfam:FAD_binding_6 21 128 2.1e-36 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230109A22Rik T C 15: 25,138,944 (GRCm39) noncoding transcript Het
Abca15 G A 7: 119,934,431 (GRCm39) V136M probably damaging Het
Abhd3 A G 18: 10,645,148 (GRCm39) I382T probably benign Het
Cux1 C A 5: 136,304,169 (GRCm39) E1336* probably null Het
Ddx24 T C 12: 103,390,314 (GRCm39) T226A possibly damaging Het
Dld T C 12: 31,382,408 (GRCm39) N465S probably null Het
Dnmbp A G 19: 43,842,566 (GRCm39) probably benign Het
Dock9 T C 14: 121,818,111 (GRCm39) H1580R probably benign Het
Drd3 C A 16: 43,637,319 (GRCm39) probably benign Het
Gabrb2 G T 11: 42,420,322 (GRCm39) probably null Het
Gbp9 T C 5: 105,242,141 (GRCm39) probably null Het
Inhba A T 13: 16,201,664 (GRCm39) I409F possibly damaging Het
Iqgap2 T C 13: 95,764,564 (GRCm39) N1560S probably damaging Het
Itsn1 A G 16: 91,617,606 (GRCm39) probably benign Het
Kat6b T C 14: 21,678,938 (GRCm39) F434L probably damaging Het
Klra1 A G 6: 130,341,278 (GRCm39) C232R probably damaging Het
Krt18 T A 15: 101,938,302 (GRCm39) I175N probably damaging Het
Lck A G 4: 129,450,212 (GRCm39) V178A probably damaging Het
Mroh4 C A 15: 74,481,624 (GRCm39) G737V probably benign Het
Mug2 A C 6: 122,058,285 (GRCm39) L1282F probably damaging Het
Myo9a A G 9: 59,832,187 (GRCm39) N2572S probably benign Het
Nup88 G T 11: 70,834,695 (GRCm39) probably benign Het
Nxph3 G T 11: 95,401,834 (GRCm39) H193Q possibly damaging Het
Or5b97 G T 19: 12,878,221 (GRCm39) H308N probably benign Het
Orm2 A G 4: 63,283,970 (GRCm39) T198A possibly damaging Het
Pom121 T C 5: 135,415,686 (GRCm39) I397V unknown Het
Prex1 C A 2: 166,414,909 (GRCm39) E1313D probably benign Het
Prkg2 T A 5: 99,145,378 (GRCm39) probably benign Het
Prl2a1 A T 13: 27,990,310 (GRCm39) K86N possibly damaging Het
Ptpro G A 6: 137,355,057 (GRCm39) S188N probably damaging Het
Ptprz1 A T 6: 23,001,209 (GRCm39) I1100F probably benign Het
Ryr1 C A 7: 28,719,188 (GRCm39) M4406I unknown Het
Sdf4 T A 4: 156,093,281 (GRCm39) Y204* probably null Het
Serinc1 A T 10: 57,400,089 (GRCm39) probably null Het
Slc39a5 C T 10: 128,234,324 (GRCm39) R193H probably damaging Het
Smad9 A G 3: 54,689,888 (GRCm39) K36R probably damaging Het
Spam1 T A 6: 24,796,123 (GRCm39) L25I possibly damaging Het
Stab2 A T 10: 86,686,766 (GRCm39) S809R possibly damaging Het
Szt2 G A 4: 118,231,252 (GRCm39) R35C probably damaging Het
Tcaf2 C A 6: 42,606,058 (GRCm39) probably benign Het
Tfap2d A C 1: 19,174,979 (GRCm39) D144A probably benign Het
Tmprss11d A T 5: 86,479,052 (GRCm39) V117D probably damaging Het
Tnxb A G 17: 34,903,913 (GRCm39) D1141G probably benign Het
Traf6 A T 2: 101,527,512 (GRCm39) T421S possibly damaging Het
Txndc16 G A 14: 45,448,607 (GRCm39) probably benign Het
Utp25 G A 1: 192,789,904 (GRCm39) Q752* probably null Het
Vmn1r73 C A 7: 11,490,865 (GRCm39) P228T probably damaging Het
Vmn2r4 A G 3: 64,296,433 (GRCm39) I784T probably benign Het
Zfp420 A G 7: 29,573,795 (GRCm39) D5G probably benign Het
Other mutations in Cyb5r3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Cyb5r3 APN 15 83,044,605 (GRCm39) missense probably benign
IGL02351:Cyb5r3 APN 15 83,045,136 (GRCm39) missense probably benign 0.04
IGL02358:Cyb5r3 APN 15 83,045,136 (GRCm39) missense probably benign 0.04
PIT4466001:Cyb5r3 UTSW 15 83,046,064 (GRCm39) missense probably damaging 1.00
R0063:Cyb5r3 UTSW 15 83,046,137 (GRCm39) missense probably benign 0.00
R0063:Cyb5r3 UTSW 15 83,046,137 (GRCm39) missense probably benign 0.00
R0368:Cyb5r3 UTSW 15 83,042,993 (GRCm39) missense probably benign 0.01
R3976:Cyb5r3 UTSW 15 83,044,330 (GRCm39) missense possibly damaging 0.58
R4953:Cyb5r3 UTSW 15 83,042,822 (GRCm39) nonsense probably null
R5249:Cyb5r3 UTSW 15 83,042,836 (GRCm39) intron probably benign
R5665:Cyb5r3 UTSW 15 83,038,755 (GRCm39) missense probably damaging 1.00
R6251:Cyb5r3 UTSW 15 83,038,917 (GRCm39) missense probably benign 0.10
R6368:Cyb5r3 UTSW 15 83,044,325 (GRCm39) missense possibly damaging 0.59
R7255:Cyb5r3 UTSW 15 83,044,366 (GRCm39) missense probably damaging 1.00
R9559:Cyb5r3 UTSW 15 83,043,123 (GRCm39) nonsense probably null
Posted On 2015-04-16