Incidental Mutation 'IGL02351:Cyb5r3'
ID289486
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 #IGL02351
Quality Score
Status
Chromosome15
Chromosomal Location83153494-83172592 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 83160935 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 94 (T94A)
Ref Sequence ENSEMBL: ENSMUSP00000125636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018186] [ENSMUST00000162178] [ENSMUST00000162834]
Predicted Effect probably benign
Transcript: ENSMUST00000018186
AA Change: T117A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000018186
Gene: ENSMUSG00000018042
AA Change: T117A

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: T94A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000125636
Gene: ENSMUSG00000018042
AA Change: T94A

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: T94A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000124062
Gene: ENSMUSG00000018042
AA Change: T94A

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp A G 16: 56,654,055 T448A possibly damaging Het
Adamtsl1 T A 4: 86,156,873 probably null Het
Adgra3 A G 5: 50,058,558 V73A probably benign Het
Aggf1 T C 13: 95,352,850 probably benign Het
Aktip C T 8: 91,126,892 V96I possibly damaging Het
Atm A G 9: 53,522,176 I258T probably benign Het
Baz1b C T 5: 135,244,306 T1428I probably damaging Het
C3ar1 A T 6: 122,849,975 Y428N probably damaging Het
C87499 A T 4: 88,627,890 I405N probably damaging Het
Cadps A G 14: 12,597,380 S437P probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cbwd1 A T 19: 24,931,662 probably null Het
Cenpq A G 17: 40,924,332 L213P probably damaging Het
Cept1 A G 3: 106,539,188 probably null Het
Cln6 A G 9: 62,847,125 I150V probably benign Het
Cyp2c67 A G 19: 39,617,417 M345T probably damaging Het
Dapk2 T A 9: 66,246,523 I187N probably damaging Het
Dkk2 A G 3: 132,177,912 D191G probably benign Het
Dnah8 T A 17: 30,767,811 F3145I probably damaging Het
Dock1 A C 7: 135,108,819 D1190A possibly damaging Het
Ehhadh T A 16: 21,762,870 L457F probably damaging Het
Ercc6l2 T C 13: 63,853,683 L552P probably damaging Het
Ghrhr T G 6: 55,384,153 I284S probably damaging Het
Gm10288 A T 3: 146,839,199 noncoding transcript Het
Gp6 T G 7: 4,394,508 I19L probably benign Het
Gria4 G A 9: 4,456,206 S698L possibly damaging Het
Ifng A T 10: 118,442,505 I53F possibly damaging Het
Kazn A C 4: 142,147,016 probably null Het
Khk A T 5: 30,928,504 I136F probably damaging Het
Lnx1 T A 5: 74,627,366 N98Y probably damaging Het
Lsp1 T C 7: 142,488,942 probably null Het
Lta4h A T 10: 93,478,467 N467I probably benign Het
Mcmbp C A 7: 128,709,781 probably null Het
Me2 A T 18: 73,797,967 I85K probably benign Het
Muc4 C T 16: 32,750,986 T288I possibly damaging Het
Nadsyn1 A T 7: 143,799,912 Y525N probably damaging Het
Nt5e G A 9: 88,327,893 V70M probably damaging Het
Olfr677 G A 7: 105,056,975 G243D probably damaging Het
Olfr827 T G 10: 130,210,734 Y132S probably damaging Het
Olfr883 A T 9: 38,026,036 I77L possibly damaging Het
Pkd1l3 A G 8: 109,646,497 probably benign Het
Ppm1d A T 11: 85,345,715 E440V probably damaging Het
Ripor2 A T 13: 24,731,589 E1047D probably damaging Het
Rwdd2b G A 16: 87,437,448 A18V probably benign Het
Serpina5 G T 12: 104,102,125 K148N probably damaging Het
Setx A G 2: 29,146,964 K1154E probably benign Het
Skap1 T A 11: 96,708,556 probably null Het
Spcs2 T C 7: 99,849,034 K81R probably damaging Het
Stt3b T A 9: 115,250,907 M646L possibly damaging Het
Suco T C 1: 161,818,626 T1169A probably benign Het
Susd1 A T 4: 59,427,985 Y66* probably null Het
Trim34a T A 7: 104,261,234 C414* probably null Het
Trim58 G A 11: 58,651,350 G379S probably damaging Het
Vmn2r50 T A 7: 10,053,075 Q35L probably benign Het
Zfp418 T C 7: 7,174,691 probably benign Het
Zfp57 G A 17: 37,010,027 V258I probably benign Het
Other mutations in Cyb5r3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Cyb5r3 APN 15 83160404 missense probably benign
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 On2015-04-16