Incidental Mutation 'IGL00334:Cyb5r3'
ID4062
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyb5r3
Ensembl Gene ENSMUSG00000018042
Gene Namecytochrome b5 reductase 3
SynonymsDia1, 2500002N19Rik, Dia-1, 0610016L08Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00334
Quality Score
Status
Chromosome15
Chromosomal Location83153494-83172592 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 83160404 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 138 (A138S)
Ref Sequence ENSEMBL: ENSMUSP00000124062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018186] [ENSMUST00000162178] [ENSMUST00000162834]
Predicted Effect probably benign
Transcript: ENSMUST00000018186
AA Change: A161S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018186
Gene: ENSMUSG00000018042
AA Change: A161S

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 benign
Transcript: ENSMUST00000162178
AA Change: A138S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125636
Gene: ENSMUSG00000018042
AA Change: A138S

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 probably benign
Transcript: ENSMUST00000162834
AA Change: A138S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124062
Gene: ENSMUSG00000018042
AA Change: A138S

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T A 11: 78,269,574 L620I possibly damaging Het
Arsb T G 13: 93,939,279 H423Q probably benign Het
Ces1f T C 8: 93,267,992 T264A probably benign Het
Clcn6 C A 4: 148,017,902 probably null Het
Cyp3a57 A T 5: 145,371,024 N197Y probably damaging Het
Dctn2 A G 10: 127,277,690 probably benign Het
Dnmt1 C T 9: 20,910,270 A1197T possibly damaging Het
Dock2 T C 11: 34,704,661 D436G probably damaging Het
Drd4 A G 7: 141,292,183 N49S probably damaging Het
Dst T A 1: 34,166,292 V521D probably damaging Het
Eif5b T C 1: 38,041,719 S714P probably damaging Het
Elmsan1 G A 12: 84,172,855 R442* probably null Het
Glis3 A G 19: 28,540,264 I178T probably damaging Het
Gm11565 T A 11: 99,915,195 C138S possibly damaging Het
H1foo T A 6: 115,947,627 probably benign Het
Hdx T A X: 111,582,881 I623F probably benign Het
Huwe1 T G X: 151,885,627 L843V probably damaging Het
Hyal2 T C 9: 107,570,405 Y86H probably damaging Het
Irf7 A T 7: 141,264,640 S157T probably benign Het
Jmjd4 T A 11: 59,455,314 M331K probably damaging Het
Kdelc2 C A 9: 53,398,028 probably benign Het
Kdelc2 T A 9: 53,398,030 probably benign Het
Kdm2a A T 19: 4,356,898 D112E possibly damaging Het
Mamdc2 A C 19: 23,378,774 Y103* probably null Het
Map2k3 T C 11: 60,943,215 V77A possibly damaging Het
Mprip T A 11: 59,748,591 D403E probably benign Het
Mutyh T A 4: 116,819,319 V496D possibly damaging Het
Nbeal1 T C 1: 60,328,103 L2575P probably damaging Het
Nbeal1 T C 1: 60,281,883 V2051A probably damaging Het
Olfr16 T G 1: 172,957,591 S265R possibly damaging Het
Olfr575 T C 7: 102,955,104 K173E probably benign Het
Pcdhb6 T A 18: 37,334,224 I66N probably damaging Het
Pck2 T C 14: 55,542,641 Y89H probably benign Het
Polr3e C T 7: 120,940,811 Q594* probably null Het
Ptpro T G 6: 137,394,909 probably null Het
Rfx4 A G 10: 84,780,053 K28E possibly damaging Het
Shox2 T C 3: 66,981,441 E39G possibly damaging Het
Slc22a16 A T 10: 40,573,934 D122V probably benign Het
Smr3a A C 5: 88,008,060 probably benign Het
Taf4 G T 2: 179,976,625 L8M unknown Het
Tbkbp1 T A 11: 97,137,648 probably benign Het
Tepp G A 8: 95,313,048 R31H probably damaging Het
Tmem120b G T 5: 123,115,167 E210D probably damaging Het
Tmem120b A T 5: 123,115,166 probably null Het
Trim21 C T 7: 102,559,598 V305M probably damaging Het
Ube4a A T 9: 44,948,141 L353Q probably damaging Het
Zfyve1 A T 12: 83,574,798 N274K probably benign Het
Other mutations in Cyb5r3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02351:Cyb5r3 APN 15 83160935 missense probably benign 0.04
IGL02358:Cyb5r3 APN 15 83160935 missense probably benign 0.04
IGL02666:Cyb5r3 APN 15 83160353 missense probably damaging 1.00
PIT4466001:Cyb5r3 UTSW 15 83161863 missense probably damaging 1.00
R0063:Cyb5r3 UTSW 15 83161936 missense probably benign 0.00
R0063:Cyb5r3 UTSW 15 83161936 missense probably benign 0.00
R0368:Cyb5r3 UTSW 15 83158792 missense probably benign 0.01
R3976:Cyb5r3 UTSW 15 83160129 missense possibly damaging 0.58
R4953:Cyb5r3 UTSW 15 83158621 nonsense probably null
R5249:Cyb5r3 UTSW 15 83158635 intron probably benign
R5665:Cyb5r3 UTSW 15 83154554 missense probably damaging 1.00
R6251:Cyb5r3 UTSW 15 83154716 missense probably benign 0.10
R6368:Cyb5r3 UTSW 15 83160124 missense possibly damaging 0.59
R7255:Cyb5r3 UTSW 15 83160165 missense probably damaging 1.00
Posted On2012-04-20