Incidental Mutation 'IGL02452:Blvrb'
ID293703
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Blvrb
Ensembl Gene ENSMUSG00000040466
Gene Namebiliverdin reductase B (flavin reductase (NADPH))
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02452
Quality Score
Status
Chromosome7
Chromosomal Location27447978-27466144 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 27459340 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 55 (V55A)
Ref Sequence ENSEMBL: ENSMUSP00000043092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037399] [ENSMUST00000108357] [ENSMUST00000108358] [ENSMUST00000133750]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037399
AA Change: V55A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043092
Gene: ENSMUSG00000040466
AA Change: V55A

DomainStartEndE-ValueType
Pfam:Epimerase 6 155 9.1e-9 PFAM
Pfam:NAD_binding_10 6 191 6e-33 PFAM
Pfam:NmrA 6 205 5.8e-12 PFAM
Pfam:3Beta_HSD 7 122 7.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108357
SMART Domains Protein: ENSMUSP00000103994
Gene: ENSMUSG00000040466

DomainStartEndE-ValueType
Pfam:NAD_binding_10 2 105 1.1e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000108358
AA Change: V55A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000103995
Gene: ENSMUSG00000040466
AA Change: V55A

DomainStartEndE-ValueType
Pfam:NmrA 6 84 1.1e-8 PFAM
low complexity region 85 119 N/A INTRINSIC
SCOP:d1hdoa_ 150 246 9e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000133750
AA Change: V55A

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153644
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The final step in heme metabolism in mammals is catalyzed by the cytosolic biliverdin reductase enzymes A and B (EC 1.3.1.24).[supplied by OMIM, Jul 2009]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm C A 3: 153,941,970 V11F probably damaging Het
Alk A T 17: 71,902,625 Y941* probably null Het
Armc4 C T 18: 7,129,461 E906K probably damaging Het
Blm A T 7: 80,503,377 probably null Het
Cdh23 T A 10: 60,317,942 T2288S probably damaging Het
Csnk1g1 T A 9: 66,007,785 M242K probably damaging Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Cyp2d26 T A 15: 82,792,626 H173L probably benign Het
Cyp2g1 T A 7: 26,811,446 S131T probably benign Het
Dupd1 G A 14: 21,702,922 T52I probably damaging Het
Dzip3 T A 16: 48,938,537 probably benign Het
Espl1 T C 15: 102,299,839 S427P probably damaging Het
Fasn A T 11: 120,808,180 D2424E probably benign Het
Flrt2 G A 12: 95,779,483 M198I probably benign Het
Gen1 A T 12: 11,242,575 S404R probably benign Het
Gm11596 A T 11: 99,792,980 C105S unknown Het
Gm8765 A T 13: 50,703,077 H917L probably damaging Het
Hdlbp A T 1: 93,417,511 V714D probably damaging Het
Igkv4-80 A G 6: 69,016,832 V25A probably benign Het
Igkv8-27 C T 6: 70,171,941 W76* probably null Het
Ikzf1 T C 11: 11,748,545 L132P probably damaging Het
Kcna6 C A 6: 126,738,480 C482F possibly damaging Het
Lhx9 A T 1: 138,841,842 L47Q probably damaging Het
Lrp4 T A 2: 91,474,002 D175E probably damaging Het
Lrrtm3 T C 10: 64,088,036 K451E probably damaging Het
Mcm9 C T 10: 53,541,557 V17M probably damaging Het
Mios T A 6: 8,222,492 S475R probably benign Het
Mmp24 C T 2: 155,815,788 R533C probably damaging Het
Moxd1 C T 10: 24,282,752 P435S probably damaging Het
Mta2 T A 19: 8,950,306 I497N probably benign Het
Mtus2 T C 5: 148,077,663 V422A probably benign Het
Ndufaf1 A T 2: 119,656,426 F260Y probably damaging Het
Nfasc C T 1: 132,620,924 probably null Het
Nid1 A T 13: 13,508,720 T1128S probably benign Het
Olfr583 A G 7: 103,051,931 D211G probably benign Het
Pcdh12 G A 18: 38,281,693 P793L probably benign Het
Pclo A T 5: 14,676,966 probably benign Het
Prpf31 T A 7: 3,634,186 N161K possibly damaging Het
Prpf6 T G 2: 181,649,085 N656K probably benign Het
Ptprn T A 1: 75,258,169 H258L probably benign Het
Rab19 A G 6: 39,389,798 T216A probably benign Het
Ryr3 A C 2: 112,833,990 L1652W probably damaging Het
Six2 A C 17: 85,685,378 S232R possibly damaging Het
Spag17 T C 3: 100,027,391 V663A probably benign Het
Spag5 A G 11: 78,304,623 N252S probably benign Het
Sptb C T 12: 76,609,036 probably null Het
Synj1 A G 16: 90,961,365 probably benign Het
Tekt2 T C 4: 126,324,852 H36R possibly damaging Het
Tjp1 A T 7: 65,312,655 M1258K probably damaging Het
Txnrd3 T C 6: 89,674,795 *502Q probably null Het
Other mutations in Blvrb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0729:Blvrb UTSW 7 27448130 missense possibly damaging 0.91
R2364:Blvrb UTSW 7 27448133 missense possibly damaging 0.68
R2377:Blvrb UTSW 7 27459599 missense probably damaging 1.00
R5021:Blvrb UTSW 7 27448118 start codon destroyed probably benign 0.11
R5374:Blvrb UTSW 7 27465846 missense possibly damaging 0.86
R5607:Blvrb UTSW 7 27459469 missense probably benign 0.01
R5608:Blvrb UTSW 7 27459469 missense probably benign 0.01
R6026:Blvrb UTSW 7 27462690 missense probably damaging 1.00
R6122:Blvrb UTSW 7 27459348 missense possibly damaging 0.90
R6523:Blvrb UTSW 7 27465717 splice site probably null
R7605:Blvrb UTSW 7 27465793 missense probably damaging 1.00
R7888:Blvrb UTSW 7 27465734 missense probably damaging 1.00
Posted On2015-04-16